ADHD

by Kenneth Lyen

Attention Deficit Hyperactivity Disorder (ADHD) (1,2)

The maddening thing about ADHD is that most of us have some of the symptoms ascribed to this diagnosis. If you cannot sit still, you keep fidgeting with your fingers, your mind wanders, and you cannot pay attention and finish what you’re doing, then you might have ADHD. Hands up those of you who have these symptoms!

Diagnosis

The problem with making a diagnosis of ADHD is that it is a spectrum, and the boundary between normal and abnormal is very blur. There are no laboratory or brain imaging studies that are diagnostic, although some EEG changes may be helpful. Therefore, we rely almost exclusively on a constellation of symptoms and signs.

Children who present only with inattention without physical hyperactivity, are often missed, or their diagnosis delayed. It is only when school exam results come back below expectations, or teachers complain to the parents that their child is daydreaming, that the problem surfaces.

In contrast, children who are physically hyperactive and impulsive, might also be missed especially in boys, because it is natural for them to be energetic, aggressive and talkative. It is only the extreme end of the spectrum where the student loses their temper, injures someone else, or is at risk of being expelled from the preschool or school, that parents seek medical or psychological help.

Unfortunately, there is no single diagnostic test that can accurately and unequivocally diagnose ADHD. Doctors and psychologists can use one of the following rating scales to help them diagnose and track ADHD symptoms. A few examples are:

• The American Psychiatric Association’s Diagnostic and Statistical Manual 5^th Edition (DSM-V) (3). See below for instructions on how to use it for diagnosis.
• The Test of Variables of Attention (TOVA) (4). This is a computerized, objective measure of attention and inhibitory control for 4 years old and above.
• The Vanderbilt Assessment Scale. This 55-question assessment tool reviews symptoms of ADHD. It also looks for other conditions such as conduct disorder, oppositional-defiant disorder, anxiety, and depression.
• The Child Attention Profile (CAP). This scale is generally filled out by teachers and tracks common ADHD symptoms.
• Behavior Assessment System for Children (BASC). This test looks for things like hyperactivity, aggression, and conduct problems. It also looks for anxiety, depression, attention and learning problems, and lack of certain essential skills.
• Child Behavior Checklist/Teacher Report Form (CBCL). Among other things, this scale looks at physical complaints, aggressive or delinquent behaviour, and withdrawal.
• Conners Rating Scale. This is a questionnaire that asks about things like behaviour, work or schoolwork, and social life. They can show how these symptoms affect things like grades, job, home life, and relationships.

The DSM-V Test (3)

The American Psychiatric Association, in their Diagnostic and Statistical Manual 5^th Edition (DSM-V) divides ADHD into two categories: a) Inattentive Type (used to be called Attention Deficit Disorder or ADD), and b) Hyperactivity and Impulsive Type.

a) Inattentive type

You need six (or five for people over 17 years) of the following symptoms that occur frequently, lasted for more than 6 months and found in at least two settings (eg school and home):

• Has problems staying focused on tasks or activities, such as during lectures, conversations or long reading.
• Doesn’t pay close attention to details or makes careless mistakes in school or job tasks.
• Does not seem to listen when spoken to (i.e., seems to be elsewhere).
• Does not follow through on instructions and doesn’t complete schoolwork, chores or job duties (may start tasks but quickly loses focus).
• Has problems organizing tasks and work (for instance, does not manage time well; has messy, disorganized work; misses deadlines).
• Avoids or dislikes tasks that require sustained mental effort, such as preparing reports and completing forms.
• Often loses things needed for tasks or daily life, such as school papers, books, keys, wallet, cell phone and eyeglasses.
• Is easily distracted.
• Forgets daily tasks, such as doing chores and running errands. Older teens and adults may forget to return phone calls, pay bills and keep appointments.

b) Hyperactive and Impulsive type

You need six (or five for people over 17 years) of the following symptoms that occur frequently, lasted for more than 6 months and found in at least two settings (eg school and home):

• Fidgets with or taps hands or feet, or squirms in seat.
• Not able to stay seated (in classroom, workplace).
• Runs about or climbs where it is inappropriate.
• Unable to play or do leisure activities quietly.
• Always “on the go,” as if driven by a motor.
• Talks too much.
• Blurts out an answer before a question has been finished (for instance may finish people’s sentences, can’t wait to speak in conversations).
• Has difficulty waiting his or her turn, such as while waiting in line.
• Interrupts or intrudes on others (for instance, cuts into conversations, games or activities, or starts using other people’s things without permission). Older teens and adults may take over what others are doing.

Differential Diagnosis

It is important to differentiate ADHD from conditions whose symptoms overlap. This includes thyrotoxicosis, where there can be inattention and hyperactivity. Another predisposition to inattention are some children who have dyslexia. When such children have difficulties reading and writing, they lose interest in their studies, and their mind wanders. It is important not to miss these diagnoses. There are comorbid conditions like autism spectrum disorder that one should be aware of.

Epidemiology (5)

Some 3% to 10% of the population have ADHD, making it one of the commonest neurodevelopmental disorders in the world. Because the diagnosis of ADHD is imprecise, the epidemiology can be quite variable. Take Singapore Institute of Mental Health study, for example (6). They quote a range of ADHD prevalence from 1.7% to 16%.

The ratio of males to females is just over 2:1 (7). The question is whether or not girls are underdiagnosed because they may be more equable less animated compared to boys?

Comparison of the epidemiology of ADHD in different countries are inconsistent. Some studies show now difference (8) between Asian compared to the Western countries. However, personal communications from many preschool and primary school teachers and principals observe that non-Asians tend to be more active in an Asian classroom.

Causes of ADHD

To explore the causes, one needs to define some of the components of ADHD. We need to ask many questions, including the following:

a) What is attention?

This is the ability to concentrate and maintain one’s attention. Looking at it from another point of view, it is the ability to filter out extraneous noise. Young children are more susceptible to inattention, and after a few years they can fix their attention quite well.

b) What is working memory?

Most people regard working memory synonymous with short term memory, but there is some debate about this. This is the ability to store an average of seven numbers, alphabets or words for 20-30 seconds. Recent studies have shown that working memory is stored in the prefrontal and parietal cortex.

c) What is executive function?

Executive function is a higher order ability for cognitive control, enabling one to reason, solve problems, organize, prioritize, and plan complex tasks. It involves the prefrontal cortex. The inability to take control of one’s activities and to prioritize, is one of the distinguishing features of loss of executive function. There is considerable overlap between this and ADHD. Most people with ADHD will have impaired executive function, although some people with loss of executive function do not have ADHD. However, understanding the relationship between the two can help in exploring the pathophysiology of ADHD.

Genetics (9,10)

Twin studies indicate that the hereditability of the disorder is between 60% to 80%. If a child has ADHD, the likelihood of one of the parents having the condition is 50%. And if the child is diagnosed with ADHD, the chances of a sibling also having the same diagnosis is 30%, which compares with a 3% to 10% risk in the general population.

To date there are no predominant gene mutations thought to cause ADHD. Large numbers of gene variations have been discovered to be associated with ADHD. Some are quite interesting, especially those that are involved in dopamine neurotransmission. Another interesting finding is that there seems to be an equal distribution of the gene mutations between males and females.

Brain Imaging (11)

Magnetic resonance imaging (MRI) and the more recent functional magnetic resonance imaging (fMRI) scans of the brain have helped delineate the anatomical and functional areas of the brain affected by ADHD. The following areas have been implicated:

a) Frontal cortex: this is involved in high level functions, including attention, and executive function.

b) Limbic System: this regulates emotions and attention.

c) Basal ganglia: deficiency of this area can cause inter-brain communication and information to short-circuit, and contribute towards ADHD.

d) Reticular activating system: this major relay system allows many pathways to enter and leave the brain; deficiency can cause inattention and hyperactivity.

Electroencephalogrphy (EEG) (12)

The EEG of ADHD shows an increase in theta slow wave in the fronto-central electrodes. It helps reinforce the clinical diagnosis of ADHD, but by themselves, the EEG is not sufficient to establish a definitive diagnosis.

Neurotransmitters (13)

Low levels of two neurotransmitters, noradrenaline and dopamine, have been found in some areas of the brain. Lack of these neurotransmitters can decrease conduction of neurones, and understanding the mechanism can help explain the drug treatment of ADHD.

Environmental Causes and Diets

Known factors predisposing to hyperactive behavior include genetic influences, or children who’s mothers drank alcohol heavily during their pregnancy, or were taking illicit or addictive drugs, or were heavy smokers.

Brain injury either from trauma, strokes, or meningoencephalitis (infections of the brain) are also associated with ADHD.

Intolerance or allergy to certain foods or drinks, such as milk, shellfish, sugar and wheat, are thought to produce hyperactivity in some children. There is anecdotal evidence that food additives, such as artificial coloring, preservatives and flavors, may contribute toward hyperactive behavior. However there is no good evidence that food or food additives can cause ADHD. Toxic pollutants such as lead, mercury, cadmium, insecticides, and herbicides, have also been postulated as potential causes, but they remain unproven. While we do not recommend any special diet to treat ADHD, and as long as the diet is safe, we do not stop parents trying out diets like avoiding sugars, or going on a gluten-free diet.

Comorbidities (14)

Because ADHD is so common, it would be expected that it might coexist with other conditions. There are quite a number of these comorbid conditions associated with ADHD, and they are listed here: anxiety, depression, autism, bipolar disorder, dyslexia, oppositional defiant disorder, obsessive compulsive and tic disorders. They often make the diagnosis of ADHD harder, especially if the comorbid symptoms are more apparent.

Treatment (15)

For mild ADHD, and for parents who refuse medications, the management of ADHD is behavioural therapy.

For more severe cases, there are several medicines available. The commonest medicine used is methylphenidate.

Methylphenidate is a stimulant drug that blocks the reuptake of dopamine and noradrenaline by neurons. The short-acting (Ritalin) is given orally and effects are noticeable within half an hour, and the effects last from 4 to 6 hours. The long-acting slow-release (Concerta) starts acting after 1 hour and it lasts from 8 to 12 hours. Side effects include loss of appetite, loss of sleep, anxiety, nervousness and nausea. When given with or after food, appetite is not affected. When administered in the daytime and avoiding giving it at night, there is no loss of sleep.

If teachers are not informed the student is taking methylphenidate and the parents quiz them to find if there are any changes in behaviour, most will answer positively. The students are often better behaved, less hyperactive, study longer, and exam results show significant improvements.

If a child is unable to take methylphenidate, the alternative is atomoxetine (Strattera). This is a noradrenaline reuptake inhibitor by neurons. It is better tolerated than methylphenidate, but it is less effective. Most of the side effects are gastrointestinal, including nausea, vomiting, heartburn, loss of appetite, and weight loss.

As a child gets older, the ADHD becomes less prominent, and some are able to stop medication. However, ADHD is a lifelong condition, and many continue taking medicines for quite a long time.

Strategies for the Home Management

Children with hyperactivity can learn to keep in check certain facets of their behavior. Parents need to draw up and implement a system of rules and rewards. They should also try to recognise their child’s strengths and weaknesses in order to help them build up their own self-regard and assurance. Try the following strategies:

Establish a few consistent rules of conduct. Phrase these rules positively in terms of what your child is expected to do. If these rules are broken, deal with them immediately with a set of actions that you have previously worked out. You should have a set of “deterrents” that you and your spouse have agreed upon, and you must not display disagreements on their imposition in front of your child.

Praise your child and reward them for good behavior. Hyperactive children tend to respond well to a structured system of rewards for good behavior. By awarding points for preferred behavior and subtracting points for undesirable conduct, this system encourages the child to earn privileges or rewards through better behavior. You can make charts or use stickers to demonstrate the results of good behavior. Try to concentrate on a few behaviors at a time. Additional behaviors can be tackled as others are controlled.

For the older child, draw up a written contract with your child whereby he promises to do their homework every day or exhibits certain desired behaviors. On completion of the task or adherence to the behavior, the child can choose certain privileges, such as the right to watch a particular television program. If your child fails to discharge their side of the contract, the promised privilege can be withdrawn.

Provide a time-out place for your child to go to when he or she is unmanageable. This should not be seen as a location for punishment, but rather as a place the child uses to cool off. The best place is probably the child’s bedroom. Just ensure that the place is safe for the child. Younger children may have to be instructed to go to the time-out location, but older children should realize themselves when they need to cool off and go on their own.

Create an area free from distractions and specify a time every day for your child to do homework. He should not be permitted to watch TV or listen to loud rock music while doing homework.

Keep a calendar of long-term plans and stick it on the refrigerator door or noticeboard.

Make your child write in a notebook what homework the teacher has set, and check it every night to ensure that it has been done.

In general, adopt positive strategies such as using praise and rewards. Do not expose or dwell upon your child’s weaknesses. Instead, you should help your child build their personal strengths. Avoid using sarcasm, mockery, or hostility. It only makes them feel dejected when told: “it’s so easy, anyone can do it.” Short, mild rebukes can help them focus their mind.

Prognosis

It used to be thought that children will totally grow out of their hyperactive behavior. Some symptoms, such as attention deficit, will improve with age. However, there is evidence that just over half the children with hyperactivity will continue to experience related problems as adults.

Many adolescents with hyperactivity lag behind their peers academically and are more prone to substance abuse and antisocial ats. Hence, psychological services and support should be provided throughout the entire period of the hyperactive child’s schooling. Smaller class sizes enabling teachers to give more individualized attention, discovering and encouraging special skills in art, music and sports, can also help the hyperactive child.

Any Advantages to Having Attention Deficit Hyperactivity?

According to Hallowell and Ratey, individuals with ADHD tend to be warm, creative, flexible, loyal, innovative and hard-working. Unfortunately, if their hyperactivity is too severe, they may not have the opportunity to express these positive qualities. An interesting observation is that many hyperactive individuals are creative and excel in the arts, entrepreneurship, entertainment, inventions, etc. Below is a picture of some famous people who are believed to have ADHD.

History of ADHD

Hyperactive behavior is a condition which can be traced back to ancient times. Research into this condition was first documented in the early 1900s by the English physician, George Still. He thought that hyperactive behavior was due to brain problems rather than moral failing, which was the prevailing attitude of that era. During the 20th century, many labels and definitions of the disorder have come and gone. These include “minimal brain damage, minimal brain dysfunction, hyperkinetic reaction of childhood, defect in moral control, post-encephalitic disorder, and hyperkinesis.” Current diagnostic changes have revolved around delineating the disorder according to whether the symptom of inattention exists with or without the symptom of hyperactivity.

Famous People with ADHD (16,17)

It is impossible to prove whether whose people who are no longer with us, really had ADHD. Richard Branson, the founder of the Virgin Group, is a self-confessed ADHD, although it has not been officially diagnosed. It is postulated that when your mind is overactive, you tend to think of a wider range of topics. If you link disparate ideas together, you might stumble upon something truly original. Creativity is the hallmark of the above famous people, and we would not be surprised that they have exploited ADHD as a gift that leads them to become a genius.

A question you might ask, is whether or not treating these people’s ADHD might rob them of their achievements?

Conclusions

ADHD is one of the most fascinating conditions that nearly all of us will encounter in our lives. It can affect our friends, colleagues, families, and sometimes even ourselves! There are so many unknowns and unexplored paths. The diagnosis is nebulous, the causes are largely undetermined, how medicines exert their actions are controversial, and why do so many people with ADHD go on to achieve so much in their lives? The author proposes that one could borrow techniques used in computerized gait analysis and combine it with continuous video recording, to derive an index of motor hyperactivity. These data can then be added to results of psychological testing. A composite picture can then be derived which will not only assist in the diagnosis, but will also help in measuring the degree of hyperactivity. There is obviously a lot more work to do before we can understand more fully the cause and management of this challenging condition. For the curious-minded, ADHD is an ocean worth exploring for the hidden treasures scattered all over.

References

1 Medscape. ADHD
https://emedicine.medscape.com/article/289350-overview#showall

2 Wikipedia: ADHD
https://en.wikipedia.org/wiki/Attention_deficit_hyperactivity_disorder

3 CDC. American Psychiatric Association Diagnostic and Statistical Manual 5th edition (DSM-V) test for ADHD
https://www.cdc.gov/ncbddd/adhd/diagnosis.html

4 The Test of Variables of Attention (TOVA)
https://www.tovatest.com/

5 CHADD. General prevalence of ADHD.
https://chadd.org/about-adhd/general-prevalence/

6 Singapore Institute of Mental Health. Brain-computer interface study.
https://www.imh.com.sg/research/page.aspx?id=894

7 Ramdekkar UP et al. Sex and age differences in attention-deficit/hyperactivity disorder symptoms and diagnoses.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101894/

8 Liu A et al. The prevalence of attention deficit/hyperactivity disorder among Chinese children and adolescents
https://www.nature.com/articles/s41598-018-29488-2

9 Nichols H. Is ADHD genetic?
https://www.medicalnewstoday.com/articles/325594#is-adhd-genetic

10 Thapar A. Discoveries on the genetics of ADHD in the 21st century
https://ajp.psychiatryonline.org/doi/10.1176/appi.ajp.2018.18040383

11 Paloyelis Y et al. Functional magnetic resonance imaging in attention deficit hyperactivity disorder (ADHD).
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763932/

12 Lenartowitz K, Loo SK. Use of EEG to diagnose ADHD.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633088/

13 Silver L. ADHD Neuroscience 101.
https://www.additudemag.com/adhd-neuroscience-101/

14 ADDitude. When It’s Not Just ADHD: Symptoms of Comorbid Conditions
https://www.additudemag.com/when-its-not-just-adhd/

15 British National Health Service (NHS). Treatment attention deficit hyperactivity disorder.
https://www.nhs.uk/conditions/attention-deficit-hyperactivity-disorder-adhd/treatment/

16 Goodman DW. Famous people with ADHD.
https://addadult.com/add-education-center/famous-people-with-adhd/

17 Montijo S. 33 famous faces of ADHD
https://greatist.com/health/adhd-celebrities#historical-figures-with-adhd

Written by Kenneth Lyen
24 June 2021

Dyslexia

by Kenneth Lyen

Definition of Dyslexia

The International Dyslexia Association defines dyslexia as a condition marked by difficulties with accurate and/or fluent word recognition and by poor spelling and decoding abilities (1). It is the commonest neurodevelopmental disorder.

Dyslexia is a lifelong condition characterised by difficulties in reading, spelling and writing. It is a problem of understanding and working with language. Because reading and writing forms a major component of our educational system, children who are slow in learning to read are often labelled as having a learning disability. Dyslexics often jumble up their letters and have difficulty associating a sound with a letter, such that even familiar words are difficult to read. There is quite a wide spectrum of dyslexia, ranging from mild to severe difficulties in reading, listening to words, spelling and writing. Dyslexia is not linked to intelligence, but difficulty reading instructions can affect the intelligence testing.

Developmental Language Disorder (DLD) (Diagnostic and Statistical Manual 5^th Edition DSM-V) (2)

There is another condition with symptoms that overlap with dyslexia, but is now considered a separate entity. Known as Developmental Language Disorder (DLD), these children have no, or hardly any problems recognising words, but they cannot understand their meaning. DLD was previously known as Specific Language Impairment (SLI). Originally it was thought that DLD was part of dyslexia, but a less severe form, appearing in slightly older children.

The difference between these two conditions, is that the main problem of dyslexics is their inability to decipher the sounds of words and connect them with the visual written words. DLD, in contrast, can hear and see the words but cannot interpret what they mean. Thus they are thought to have problems with semantics (the meaning of words), syntax (the arrangements of words and phrases), and discourse (the formal orderly expression of thoughts delivered through speech or writing). DLD is therefore considered to be a higher level of processing deficit.

Dyslexia vs Developmental Language Disorder (DLD)?

In the past, it was thought that dyslexia and DLD were part and parcel of the same language disorder. Both conditions shared a core problem underlying the learning to read, which is phonology, or the ability to accurate hear phonemes (perceptually distinct units of speech sounds). Indeed both dyslexia and DLD do share difficulties with hearing these speech sounds. However, dyslexia was thought to be more severely affected in this area, and it was confirmed by testing using non-word sounds that the subject had to repeat. Dyslexics had greater difficulty repeating these sounds, and because they were unable to distinguish these phonemes, they would therefore have difficulty connecting sounds to the written language. And hence they would have difficulties reading and writing as a result.

In contrast, DLD individuals usually have less problems with phonology, and their predominant disability is in the comprehension of spoken or written language. To put it another way, their difficulty is in coping with broader oral language skills, including vocabulary and grammar, which are components of reading comprehension. Because learning to read tends to be later than learning to talk, DLD tends to be diagnosed later, when the children attend nursery class or kindergarten.

The distinction between dyslexia and DLD is depicted by the two-dimension model of Bishop and Snowling (3):

In the diagram above, dyslexics are shown lower down the phonology vertical, while DLD (“poor comprehenders”) are shown horizontally on the left of the language comprehension spectrum. The bottom left quadrant are the combined dyslexics with poor listening skills, and DLD with poor reading comprehension.

Recent studies have shown that dyslexia and DLD are indeed two distinct separate entities, but they frequently share comorbid impairments.

Epidemiology

The prevalence of dyslexia ranges from 7% to 15%, with an average of about 10%, while the prevalence of DMD is slightly lower at 7% (4). Dyslexia is the commonest learning problem.

Epidemiological studies (5) show a male predominance ranging from 1.5:1 to 3.3:1. There have been some comments that perhaps females are underdiagnosed because they are less frequently referred to diagnosticians. The reason why males are more frequently finger-pointed and referred, is because dyslexic males tend to have more unruly behaviour and express their frustrations more physically in class. This male-female inequality is still being studied and debated.

Early Diagnosis (6)

It is unusual to diagnose dyslexia under the age of 1 year. Most children are diagnosed after the age of 2 years. One suspects the diagnosis when the child learns new words slowly, takes longer learning how to speak, finds rhyming challenging, are unable to distinguish between different word sounds, reversing sounds in words, or confusing words that sound alike. At nursery school or kindergarten they may display difficulty spelling, avoid activities that involve reading, spend a long time to complete reading or writing-related tasks, read below the level expected of their age, have difficulty copying from a book or a board, have difficulty remembering or understanding what they hear, are unable to pronounce unfamiliar words, or have difficulty finding words to express their thoughts.

Let’s step back for a moment. Any child who is slow with language development must first have their hearing checked. It would be sad to miss the diagnosis of hearing impairment, as the treatment is totally different from that of dyslexia.

The British Dyslexia Association lists the following early signs that should raise your suspicion of the diagnosis of dyslexia (7):

• Difficulty learning nursery rhymes
• Difficulty paying attention, sitting still, listening to stories
• Likes listening to stories but shows no interest in letters or words
• Difficulty learning to sing or recite the alphabet
• A history of slow speech development
• Muddles words e.g. cubumber, flutterby
• Difficulty keeping simple rhythm
• Finds it hard to carry out two or more instructions at one time, (e.g. put the toys in the box, then put it on the shelf) but is fine if tasks are presented in smaller units
• Forgets names of friends, teacher, colours etc.
• Poor auditory discrimination
• Confusion between directional words e.g. up/down
• Family history of dyslexia/reading difficulties
• Difficulty with sequencing e.g. coloured beads, classroom routines
• Substitutes words e.g. “lampshade” for “lamppost”
• Appears not to be listening or paying attention
• Obvious ‘good’ and ‘bad’ days for no apparent reason

Genetic Causes (8,9)

Dyslexia often runs in families, suggesting that there is a genetic component, and indeed this is by far the commonest cause. However, some people develop dyslexia after a brain injury arising from infection, trauma, or a stroke. But these “environmental” causes are relatively rare.

Deletion of the DCDC2 gene is associated with difficulty detecting certain types of visual movements (1). Mutation in the ROBO1 gene link between auditory pathway to the brain is weakened (12). These, and many more gene mutations, are believed to converge to cause dyslexia.

The importance of studying genes is that they control protein synthesis and neural connections, among its many functions. Hence further research into this area can provide further insights into the pathophysiology of dyslexia.

Brain Imaging Studies (12,13)

Functional MRI Scans the whole brain and shows the connectivity between different regions. Weaker connections in certain parts of the brain correlate with dyslexia. Brain imaging studies have shown that there are differences in how the dyslexic brain is structured and how it functions.

There are no problems with vision, or motor coordination. (See the references for more detailed analyses).

Controversy: Phonological Deficit Hypothesis (14)

Is dyslexia a problem of hearing, reading, or understanding language? In other words is it an auditory problem, a visual problem, or a problem of making sense of words? One of the earlier theories of dyslexia is the Phonological Deficit Hypothesis.

The basis of this hypothesis is founded on the observation that reading is a complicated process and starts with recognizing individual words and sounds. Each word can be dissected into  smaller sound elements which are known as phonemes. For example the word “cat” can be broken down into 3 phonemes: “kuh”, “aah”, and “tuh”. Dyslexics have problems distinguishing the words into distinct phonemes elements. This makes it difficult for them to match specific sounds to specific letters. Difficulty distinguishing “volcano” to “tornado”. Inability to join sounds to letters results in dyslexia.

The Phonological Deficit Hypothesis has been challenged, and has currently fallen out of favour, However, it formed the basis of one of the therapies used in the management of dyslexia, the Orton-Gillingham Approach (15). This technique is to help break words down into their component sounds, match the sounds to the letters, and then blend those sounds together. This therapy employs a multi-sensory approach. For example, children might be asked to trace letters in sand, or clap out syllables in words. To date there is no convincing evidence that this technique improves dyslexia.

Problems Associated with Dyslexia (16)

Children who have dyslexia have difficulty reading and writing, and take a longer time  to understand what they are taught. They tend to do poorly in spelling tests and school exams, which will lower their self-esteem., and some may even become anxious and depressed They are also at increased risk of having impulsive behaviours, attention deficit hyperactivity disorder (ADHD).

The Mayo Clinic lists the following problems if dyslexia is untreated:

• Trouble learning. Because reading is a skill basic to most other school subjects, a child with dyslexia is at a disadvantage in most classes and may have trouble keeping up with peers.

• Social problems. Left untreated, dyslexia may lead to low self-esteem, behavior problems, anxiety, aggression, and withdrawal from friends, parents and teachers.

• Problems as adults. The inability to read and comprehend can prevent a child from reaching his or her potential as the child grows up. This can have long-term educational, social and economic consequences.

Tips for Parents on How to Manage Dyslexia

1. Start reading to your child from a young age. Interest them with picture books and use emotions to represent the different characters of the story. Point to words of interest in the book. Get your child to guess what happens next in the story. Make reading an enjoyable positive experience. 

2. In an older child, get them to read back parts of the story to you, gently giving corrective feedback.  You can also monitor how long it takes for your child to read a short passage. Children can enjoy being timed, and they take delight in seeing if they can improve their time. Repeating the reading of a passage can improve fluency. 

3. Build vocabulary. Ask your child to inform you of the new word they have learned every day. Talk about the word, its meaning, placing the word in a sentence, and checking on its meaning in a dictionary. Play word games where you try to insert the new word into a sentence at least twice that day, then again that week. Write down the daily list of new words and run through them weekly. 

4. Play games. Engage your child by playing fun word games. For example, clap with each syllable of a word spoken out loud. Separate the components of a multi-syllabic word, and them join them back together. Point out alliterations (sound duplications) in songs, poems, and nursery rhymes. 

5. Sing songs, learn to play music instruments. Many dyslexics display music, artistic, and other creative talents. Encourage them.

6. Go high-tech. Don’t be afraid to use computer resources, apps, digital learning games. Instruction must be explicit, motivating, systematic, and supportive. Be guided by what classroom is also teaching. But do not spend too much time on the computer at home in case your child becomes too addicted to it!

Practical Classroom Management

a) Students learn more effectively in small groups (preferably 1:3 to 1:6) but this may not always be possible to achieve in some schools. Ideally the teachers should have received training in the teaching of children on how to read.

b) Try introducing and talking around the subject matter before reading the text. Whenever possible, relate the text to real life experiences. Enhance the teaching with pictures, common household items, outdoor activities and field trips.

c) Increase vocabulary by selecting practical high-utility words. Apply the new words in conversation and in writing. Teach proper pronunciation by properly reading the words, and learn about word derivations and manipulations (roots, affixes). If the word has several meanings when used in different contexts, talk about them. Explore figures of speech, synonyms and homophones, and try to give concrete applications of these words.

d) Teach the rules of language, correct spelling and the exceptions where the rules are allowed to be broken.

e) Get the child to read texts pitched at their level. Use the same words in different contexts, and try fluency drills with repeat practising of these same words.

Bilingualism (17)

Many schools advise parents and caregivers of dyslexic children to avoid bilingual language use at home. Research evidence does not show any advantages or disadvantages of dyslexics from bilingual families. Certainly bilingualism is not a cause of dyslexia. Converting into monolingual conversations at home also shows no benefit. Some have suggested that bilingualism might even benefit dyslexics learning to read, but there is no evidence to support this claim either (17).

Different Languages and Different Countries (18,19)

What is fascinating is the comparison of the prevalence of dyslexia in different countries :

Fig 1. Percentage of dyslexics according to corresponding countries (Husni, Jamaluddin 2008) (18)

However, studies like this have been subject to criticisms. The different prevalence in different countries may be due to a combination of other factors, including different cultural and socioeconomic environments.

Another comparison (20) is showing that the prevalence of dyslexia in China is 3.9%, which is lower than the prevalence in western countries, which range from 5 to 17%. But before you draw the conclusion that pictographic languages like Chinese are less likely to result in dyslexia, studies of Japanese dyslexics come to the opposite conclusion. The difference between dyslexics in hiragana, the Japanese alphabet is very low, at 1%. In contrast, the prevalence of dyslexics using the kanji pictorgram is higher at 5-6%.

Below is a mouse, used in English, and a similar-sounding word in several European languages. The captions under the picture show how other languages write the equivalent of mouse in their own native writing. There must be a range of difficulty in reading and writing these different languages. Researching the mechanisms of language learning is important in getting into the fundamental understanding of brain function. Another area of suggested research is to see how different languages can affect the behaviours and personalities of the native speakers. And another area of research is to compare computer language with human language, and how artificial intelligence can merge the two together.

New Technology (21)

There are many new ways to help dyslexics, and the number of new devices and programs are increasing. Here are some that are currently available.

1 Dragon Naturally Speaking transcribes spoken into written words, and translate the words into other languages.

2 Natural Reader is the opposite of Dragon Naturally Speaking, in that it converts the written text into speech. It also has an inbuilt translator so that the speech can be delivered in another language.

3 Livescribe Smart Pen facilitates writing on a computer, and has other functions including audio recording.

4 New fonts with alphabets designed to be heavier at the bottom, so as to prevent readers turning the alphabet upside down.

5 Functional Magnetic Resonance Imaging (fMRI) can observe in real time which areas of the brain are used in speech and reading. This enables one to diagnose dyslexia, as well as to assess which therapy is most effective in training the dyslexic brain to speak, read and write.

Early History of Dyslexia (22)

Doctors and medical students will remember the name Adolph Kussmaul, who described the slow sighing breathing in diabetic ketoacidosis, and is now known as Kussmaul respiration. In 1877 he coined the term “word-blindness” to describe patients who had difficulty reading. Ten years later, in 1887, a German ophthalmologist, Rudolf Berlin, first used the term “dyslexia” to describe the patients who despite having good eyesight, was unable to read the written words. In 1896, the British physician first identified the condition in a child, and describedthe symptoms of dyslexia in greater detail.

Famous Dyslexics (23)

The list of famous dyslexics is very long. We suspect, but cannot prove whether those famous people who are no longer with us, really did have dyslexia. But we do have some reasons why we think Leonardo da Vinci had dyslexia. Although none of these findings are diagnostic by themselves, the combination leads one to think he was dyslexic. He drew and wrote with his left hand, he was able to write mirror image effortlessly (a feature of many dyslexics), and he frequently made spelling mistakes especially in homophonic words.

It is also interesting to note that 35% of entrepreneurs are dyslexic, compared to 10% of the general population. These dyslexic entrepreneurs appear to be good at creating new ideas, they are often good at speaking and delegating tasks.

The question all of us are asking is why so many world-famous brilliant people dyslexic? One would have thought that the inability to read and write fluently must be a handicap. So why have so many people accomplished such incredible strokes of genius?

One popular theory is that if you are handicapped in one area, you will overcome the difficulty by finding another area to excel in. For example, the blind can hear sounds and touch objects more sensitively, and the deaf and see more clearly. What seems quite counter-intuitive are the famous writers, some of them confessing that they do suffer from dyslexia.

Conclusions

Dyslexia is a common condition affecting around 10% of the general population. Early recognition can help the affected person become more fluent in reading, writing and understanding language. This will have psychological benefits. Researching into the mechanisms of dyslexia, an the different forms it takes in different languages and cultures can help deepen one’s understanding of how we acquire knowledge and communicate with one another. Hopefully we will gain insights into how we think, and how we develop our personality.

References

1 International Dyslexia Association. Definition of Dyslexia.
https://dyslexiaida.org/definition-of-dyslexia/

2 Catts HW et al. Are Specific Language Impairment and Dyslexia Distinct Disorders?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2853030/

3 Snowling M. Dyslexia and developmental language disorder: same or different?
https://www.acamh.org/blog/dyslexia-developmental-language-disorder-different/

4 Laasonen M et al. Understanding developmental language disorder
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963016/

5 Arnett AB et al. Explaining the Sex Difference in Dyslexia

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438271/

6 Yale Center for Dyslexia and Creativity. Suspect dyslexia? Act early.

https://dyslexia.yale.edu/resources/parents/what-parents-can-do/suspect-dyslexia-act-early/

7 British Dyslexia Association. Signs of dyslexia, early years.

https://www.bdadyslexia.org.uk/advice/children/is-my-child-dyslexic/signs-of-dyslexia-early-years

8 Hensler BS et al. Behavioral Genetic Approach to the Study of Dyslexia.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952936/

9 Schumacher J et al. Genetics of dyslexia: the evolving landscape.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597981a

10 Chen Y et al. DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5361510/

11 Hannula-Juppi K et al. The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1270007/

12 International Dyslexia Association. Dyslexia and the brain.

13 Elnakib A et al. Magnetic resonance imaging findings for dyslexia.

https://www.researchgate.net/publication/269993420_Magnetic_Resonance_Imaging_Findings_for_Dyslexia_A_Review

14 Wikipedia. Phonological deficit hypothesis

https://en.wikipedia.org/wiki/Phonological_deficit_hypothesis

15 Wikipedia. Orton-Gillingham.

https://en.wikipedia.org/wiki/Orton-Gillingham

16 Mayo Clinic. Dyslexia
https://www.mayoclinic.org/diseases-conditions/dyslexia/symptoms-causes/syc-20353552#

17 Rosen P. FAQs about bilingualism and dyslexia.
https://www.understood.org/en/learning-thinking-differences/child-learning-disabilities/dyslexia/faqs-about-bilingualism-and-dyslexia

18 Husni H, Jamaluddin Z. A retrospective and future look at speech recognition applications in assisting children with reading disabilities.

Click to access Husniza_husni_WCECS2008_pp555-558.pdf

19 Butterworth B, Tang J. Dyslexia has a language barrier.

https://www.theguardian.com/education/2004/sep/23/research.highereducation2

20 Sun Z et al. Prevalence and associated risk factors of dyslexic children in a middle-sized city of China.

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0056688

21 Nixon G. How technology Is changing treatments for dyslexia.
https://www.gemmlearning.com/blog/dyslexia/technology-is-changing-treatments-for-dyslexia/

22. The history of dyslexia.

https://dyslexiahistory.web.ox.ac.uk/brief-history-dyslexia

23. List of dyslexic achievers.

https://www.dyslexia.com/about-dyslexia/dyslexic-achievers/all-achiever

Written by Kenneth Lyen

22 June 2021

History of Autism in Singapore

Rainbow Centre, Yishun Park, Singapore

by Kenneth Lyen

Special Education

Upon returning to Singapore from his post-graduate studies in Philadelphia (1983), Dr Kenneth Lyen joined the Department of Paediatrics at the National University of Singapore. He was soon asked by Professor Freda Paul who was about to retire, to take over her Clinic for the Mentally Disabled, a clinic that took care of over 1,000 intellectually and physically challenged patients. When he took charge of this clinic he quickly realised that there was a gap in the services in Singapore. There were no educational or rehabilitation therapies for children under the age of 7 years which amounted to over a couple of hundred of his patients. “We better do something for them!” he told his colleagues.

A proposal was made in 1985 to Dr Ee Peng Liang, then President of the Singapore Council of Social Service and Community Chest, to start a special school for children under the age of 7 years, who were intellectually and physically challenged. Soon, a vacant school site at Margaret Drive was allocated by the Dr Tay Eng Soon, the Minister of State for Education, to establish special education at the Margaret Drive Special School (now known as Rainbow Centre Margaret Drive School). In 1987, the school was officially opened, launching the Programme for Children with Multiple Handicaps and the Early Intervention Programme for Infants and Young Children (EIPIC) which was started at the Singapore Association of Retarded Children (now renamed Movement for the Intellectually Disabled of Singapore (MINDS).

The First Programme for Children with Autism in Singapore

Over time, Dr Lyen noticed through his clinician practice that there was a special group of children who had socializing difficulties, speech problems and repetitive behaviours, all pointing toward Autism Spectrum Disorder (ASD). He consulted a psychiatrist who, to his surprise, remarked that there were no children with ASD in Singapore. “That can’t be so,”

He soon realized that the definition of autism used by some Singapore psychiatrist and paediatricians was based on Leo Kanner 1943 definition that required autistic children to have zero speech, no socializing abilities, and extremely obsessional repetitive behaviours. When Dr Lyen reviewed the children attending my Developmental Clinic, he noted that his patients had a milder form of autism, with some speech, some social impairments, and repetitive behaviours, more like the behavioural spectrum described in 1944 by Hans Asperger.

He was able to convince both the Ministry of Education as well as the Ministry of Community Development that to start a new special programme devoted to helping children on the autistic spectrum. This was approved in 1987, and once again Dr Lyen approached Dr Ee Peng Liang of the Community Chest to provide funding, which he gave unreservedly.

Structured Teaching for Exceptional Pupils and the TEACCH Programme

In a stroke of perfect timing, renowned clinical psychologist Dr Vera Bernard, who had a special interest in ASD visited Singapore. She approached Dr Lyen in 1988, wondering if she could help in any way. He accepted, and this eventually led to the launch of Rainbow Centre’s Structured Teaching for Exceptional Pupils (STEP) for children with autism ages 2 to 12, a first among Singapore special schools. This was officially started in 1989.

Dr Bernard was invited to the Margaret Drive Special School, and she explained that she would use behaviour modification as the mainstay of the program. She had worked under Professor Bernard Rimland at the University of California San Diego. The STEP program that Dr Bernard was introducing to Singapore was largely based on the Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH). This was developed at the University of North Carolina, originating in a child research project begun in 1964 by Eric Schopler  and Robert Reichler. 

The highlight of this program was that therapy was individualized, a philosophy which the Rainbow Centre had embraced when it started the Early Intervention Program.  Another aspect of the TEACCH program is that it has a structured format developing the child’s individual potential skills, including visual, auditory, physical, and other abilities. It also recruited parents or other caregivers to learn and become involved in  the training using positive behavioural reinforcements, and not aversives.

Over time, the students that attended TEACCH learnt to speak, socialize better, and their obsessional behaviors diminished, compared to those children on the waiting list.

Executive Director

An executive director was recruited to manage the school as well as the new STEP program. June Tham was head-hunted and invited to join the Margaret Drive Special School. Initially she did not want to leave her position in another special school, but in 1989 she agreed to become the executive director of the school.

The Rainbow Cenrtre

The STEP was started with 12 students. Since then the numbers has progressively increased to the current number of over 700. The Margaret Drive School was soon unable to cope with the increasing number of students, and a second school was started in 1992 which is now located at Yishun Park. Both schools took in younger children under the age of 12 years on the autism spectrum. To manage two schools, an umbrella body, the Rainbow Centre was officially established in 1992. In 2018, another school, the Woodlands Campus was started, making it the third school under the Rainbow Centre.

In 2004, some members of the Rainbow Centre were approached by the Ministry of Education to help start a school for autism spectrum children above the age of 7 years. Several Rainbow Centre board members volunteered to help start the Pathlight School, which was led by Denise Phua. This school served students who were capable of pursuing the Primary School Leaving Examinations (PSLE) and the General Certificate of Education (GCE) exams. An additional education track was started for those suitable for vocational skill certifications. Pathlight School launched the Satellite School Model in 2005 in which its secondary schools students were physically located with their teachers in several partner mainstream secondary schools such as Chong Boon Secondary School and Bishan Park Secondary School; for fuller social and academic integration.

Other Schools

There are now many more schools in Singapore handling children with autism spectrum disorders, including Grace Orchard, Eden School, St Andrew’s Autism Centre, and the older schools of MINDS and Association for Persons with Special Needs (APSN) also take in autistic students. There is now an autism resource centre, as well as several centres that organize co-curricular activities. As for the older persons with autism spectrum, there are now job-training programs, helping them find employment in the food and beverage industry, gardening, working in an office, and computing.

Mainstream Support

Singapore has recognized that there are children within main stream school settings whose special needs require additional support beyond what is usually available in schools. Services supporting such students, particularly those with mild dis abilities, have been steadily developing. However, the 21^st century has seen great leaps in services for children with special needs, in line with the government’s focus on making Singapore a more inclusive society.

In the sections that follow, we will describe two developments in mainstream schools since the 1970s, as well as other organisations supporting special needs students who are attending them.

Mainstream Schools

In 1970, the Ministry of Education established the Schools Social Work and School

Psychological Services, and this was later renamed as the Psychological Services Branch. Staffed by educational and associate psychologists, the aim was to provide support to students with special needs in mainstream primary schools. This branch also provides support to the Allied Educators (Learning and Behavioral Support) (AED [LBS]).

Another initiative to provide early intervention to students who required support in their acquisition of literacy skills was started under The Learning Support Programme (LSP) was introduced in 1992. This was subsequently expanded in 1999 to provide the same screening and support for students who are weak in mathematics.

Currently all trainee teachers must receive a 12 to 36-hour introductory course on special education to help accommodate and support students with learning difficulties.In addition, 10% of primary and 20% of secondary school teachers receive over 100 hours of training to further assist students with special needs in mainstream settings.

Fundraising

As the school population grew, the existing facilities were unable to support the students’ needs. When the time came for a new purpose-built building, the team embarked on fundraising initiatives. As a member of the Rotary Club of Singapore North, Dr Lyen took up the mantle for fundraising. Support was also given by other charity bodies like the Lions Club, The Lee Foundation, the Tsao Foundation, and many other bodies.

Future Challenges

The hopes for the future:

The first is to adopt a lifespan philosophy that  looks at the entire life of a person on the autism spectrum This requires more training, more jobs, more support. The next problem is to find ways of looking after those on the more severe end of the spectrum, especially when their parents and loved ones pass on. Who will look after them?

The second challenge is raised by the higher functioning autistic individuals. They do wished to be labelled “disabled”, but to be regarded as “differently abled”. In other words they do not want autism to be regarded as an abnormality or a pathological disease. They want to be seen as merely different. One repercussion of this is that mainstream schools need to be able to become inclusive and allow everyone of different abilities, to study together, to play together, and to be considered as part of humanity’s one big family. This is already taking place in nursery and kindergartens. Many of them are accommodating children on the autism spectrum. Hopefully this will extend to older agegroups.

Inclusive education: Different, not disabled. I do not believe in segregating children with differences into separate schools or institutions. Children have different abilities and interests, but we should not partition them into isolated schools. They can still join in other activities such as sports, art, music, dance, etc. We need to develop a mindset that we are all part of a family

Prevention is better than cure. If we can discover the causes of childhood developmental conditions, we may be able to prevent more of these states. Already the incidence of Down Syndrome and cerebral palsy has fallen. I hope that autism will follow suit.

New technologies. Creating new technologies to help the disabled should be given more funding. Enhancing communication, facilitating the integration of special children into society, allowing them to travel, shop, etc with ease can be developed further.

These are our hopes for the future.

Acknowledgment

The section on Mainstream Schools was written by Kenneth Poon

References

June Tham (ed) Rainbow Dreams

https://www.amazon.sg/Rainbow-Dreams-Kenneth-Pathnapuram-Tham-Toh/dp/9814413631

Parents Cope With Autism

Coping with Autism

by Kenneth Lyen

INTRODUCTION

Just as there is a spectrum of autistic individuals, there is also a spectrum of families into which they belong. Some families are thrown out of balance when they are challenged with a child who needs extra support and management. Others cope with the myriad of difficulties with self-assurance. Here we will focus on the more severe end of the autistic spectrum that poses stresses upon their families. What are the challenges facing them?

COPING WITH AN AUTISTIC FAMILY MEMBER

1. Challenge: How to come to terms with the diagnosis?

Approach: It can come as a shock to learn that your child has autism. None of us are prepared for this. And we will go through a wide range of emotions ranging from fear to anxiety and despair. We love our child so much, and we want to give them the very best in life, but now we fear the worst, our hearts suffering agonizing pain. Initially you may deny the diagnosis, and later you might become angry and even depressed, before finally you begin to accept the diagnosis. Some of your friends may try to convince you that autism is not a disease, but just a different condition, that will sort itself out in the end. But this will probably not help your grief.

It is important to try to obtain more information, either through online sites, books, or talking to recognized teachers, psychologists or medical specialists about the diagnosis. Given the characteristics of autism, it is important that you and your family seek professional advice early, as this can help you learn how to engage and connect with your child, and to become more flexible and understanding of your child’s behaviours, feelings, and development.

2. Challenge: How would you deal your other family members’ reactions to the diagnosis?

Approach: You may have begun to accept the diagnosis of your child, but then you have to inform other members of your family. Each one will probably respond differently. Perhaps you might want to talk to each member separately, including your spouse, your siblings, grandparents, and other caregivers. The reason is that autism is a lifelong condition that requires teamwork and long-term management. This can only come about when everybody accepts and understands the condition and learns how to work together to cope.

Having a child with autism can be very lonely for you. It is not uncommon for parents to keep the child’s diagnosis hidden from their immediate family and even their friends and colleagues. It is probably better not to conceal your child’s condition from others, because eventually you will need to enlist the help of your friends, neighbours and other members of the community.

3. Challenge: How should we accept our autistic child?

Approach: Accept your child as they are. Accept their idiosyncracies, their unusual mannerisms, their quirks.  There are times they will be exasperating, like crying for long periods, and nothing you do will stop the crying. Don’t give up. Engage with them, love them. Children will grow up and change with time. You too will learn to adapt.

4. Challenge: How should we change the physical environment of our home?

Approach: Autistic children are sensitive to the environment. First, the home environment should be safe. Avoid getting furniture with sharp corners. Keep dangerous implements away. Cover electric sockets with electric plug protectors. Construct window grills to prevent the child jumping out of the flat.

Reduce noise because many autistic individuals have sensitive hearing and cannot stand loud noise. This also applies to television, radio, and home cinemas. Same treatment with bright lights. Many autistic people do not tolerate lights that are too glaring.

Have a variety of safe toys. Some autistic children like to line up objects, like cars, so perhaps one should not buy too many similar vehicles.

5. Challenge: Should we set a timetable?

Approach: Yes, autistic children learn and develop better with a predictable programme. You should set up a detailed structured schedule that can be followed every day. This includes waking up at around the same time, brushing teeth, washing face, toileting, changing clothes, having breakfast, playtime, exercise time, etc, all the way to bedtime.

6. Challenge: How should we communicate with our child?

Approach: Some autistic children may have delayed speech, and some remain silent for much of their lives. Look out for nonverbal cues. Look at their facial expressions to determine their mood. Look out for body language, their gestures, their responses to food, toys, and other activities. If they are not looking at you, turn the head to look at your face. Use a combination of visual and auditory clues to communicate, supplemented by your supplying the words to describe the activities or objects.

Try not to spend too much time watching television, playing on the mobile phone, or laptop computer. Anecdotal evidence suggests that such activities do not stimulate communication or speech.

7. Challenge: How to optimize learning?

Approach: Find out their strengths and weaknesses. What do they enjoy? Do they enjoy certain activities like drawing, playing the piano, or constructing objects with Lego? Make playtime fun, but cap the time devoted to any particular activity, so it does not become obsessional.

8. Challenge: How to tackle undesired behaviours?

Approach: Some autistic children indulge in prolonged repetitive behaviours, like clapping, flapping hands, rocking, and even self-injurious activities. They may make unusually loud noises, or scream continuously. One approach is to distract them and try to persuade them to take part in another activity or play with another toy. Try to discover if there may be some recognizable triggers for these behaviours. For example, is it in response to your refusal to give them what they want? Maybe you do not realise what they really want, and they are unable to express themselves in words. So in frustration they start screaming.

In the case of self-injurious or dangerous behaviours like head-banging, biting, pushing, or scratching, you need to stop these activities immediately. If necessary, make an appointment to consult a doctor.

9. Challenge: Should we engage in special therapies

Approach: The special therapies referred to include speech and communication therapy, occupational therapy, physiotherapy, music and art therapy. Most special schools, nurseries and kindergartens with interest in autistic children, should be able to provide some of these therapies. When you have identified those areas that you think your child might need extra encouragement and help, then you might like to discuss if they are really beneficial, and where to find these therapies.

10. Challenge: A brief overview of the autistic child’s future.

Approach: Different stages of the autistic individual’s life will require different approaches. The young autistic child may need early intervention centres that may help in several ways, including giving family support, and providing speech therapy, occupational therapy, and special education. Opportunities for socializing needs to be organized, so the child can mix with other children, be given opportunities to engage in art, music, sports, and outdoor activities. The long-term future may require drawing up a will, and setting aside some funds in the event that the individuals are unable to take care of themselves, especially after the parents have passed on.

11. Challenge: How not to be overwhelmed by too much information on the internet.

Approach: It is a typical response for parents to be overenthusiastic in seeking (too much) information for the sake of their child on the world wide web.  The internet is a vast storehouse of information, but unfortunately not all the information is accurate. It is important to check the facts to verify whether they are reliable. Also discuss the data with other professionals to evaluate their accuracy and relevance.

12. Challenge: Strain on marriage

Approach: Looking after an autistic child can be a heavy strain on one’s marriage. Sometimes getting relatives and friends to help out can alleviate the problem. If not, one may have to look for marital or family counseling for help.

13. Challenge: Who would be best to confirm a diagnosis of autism?

Approach: The diagnosis of autism spectrum disorder should be an experienced paediatrician, psychiatrist, or psychologist familiar with autism. A teacher or a general practitioner, or another parent, should also be able to guide you. You can also search the internet for online websites that can lead you to resource centres, special schools, and government websites dealing with autism. These websites might be able to provide information, advice, and direct you to the appropriate psychologists and medical specialists to obtain a diagnosis.

The Autism Resource Centre (ARC) was set up specifically to focus on the education of autism for families and autistic individuals. ARC has also been running Certificate and Diploma in Autism courses for educators from both mainstream and special education institutions. They also run parent training workshops for parents and the public.

14. Challenge: Which pre-schools and schools to choose from?

Approach: There are several factors to consider. This includes which end of the autistic spectrum your child comes under. Are there any co-morbid problems, like attention deficit hyperactivity disorder, epilepsy, aggressive behaviours, etc? How far is the school from where you live, and is transport provided? Best to visit the schools and discuss your child with the teachers, principals and other parents.

15. Challenge: How to find help for low-income families?

Approach: Some children with autism require special education, early intervention, and other therapies, but these can be quite costly. What kind of help is available for low-income families who are raising children with autism? Fortunately, there are government organisations and charitable foundations that can give a helping hand.  See the list below.

CONCLUSIONS

Teamwork is the foundation of coping with autism. The good news is that there are now quite a number of organisations, schools, psychological and medical services that can help. The problem is trying to find what would be best for your child and for your family. The internet can overwhelm you with too much information, and the most attractive site may not offer the best advice or therapies. Discuss it with as many people as possible, including teachers, psychologists, doctors, and other parents.

Final advice: Love your child, and don’t give up!

RESOURCES

Singapore Autism Resource Centre. https://www.autism.org.sg/

Singapore Rainbow Centre. https://www.rainbowcentre.org.sg/

Singapore St Andrew’s Autism Centre. https://www.saac.org.sg/

Malaysia Autism Link. https://www.autism.my/

Malacca Malaysia. http://www.wingsmelaka.org.my/

UK National Autistic Society. https://www.autism.org.uk/
 
Free Online Courses:
http://www.autism-society.org/living-with-autism/how-the-autism-society-can-help/online-courses-and-tutorials/

Floortime DVD Autism Training: https://www.amazon.com/Floortime-DVD-Training-Basics-Communicating/dp/B0009XZITG

Online resources screening tools:

0-2 years – http://asdetect.org/

18 months – Checklist for Autism in Toddlers (CHAT)
https://www.rch.org.au/genmed/clinical_resources/CHecklist_for_Autism_in_Toddlers_CHAT/

4-11 years – childhood Asperger syndrome test (CAST) 
https://www.autismresearchcentre.com/project_9_cast

Myths About Autism

Autism Myths

by Kenneth LYen

INTRODUCTION

Autism awareness campaigns have been largely successful – more people know what it is, how to recognise the signs, and diagnosticians are better equipped to identify and properly diagnose the condition. With the worldwide connection on the internet, there is an increasing amount good reliable information. Unfortunately there is a burgeoning amount of false information or “fake news”. These often fuel some people’s strongheld distorted beliefs about autism. Trouble is that it is often difficult to separate truth from lies or partial truths. Below we will sift through some of the prevailing myths about autism, and try to determine which ones we think are true, partially true, or outright wrong.

MYTHS ABOUT AUTISM

1. Myth: People with autism don’t want to make friends. (1)

Answer: In most cases this is untrue. What is true is that they have difficulty making friends as they may not have the repertoire of social or communication skills to be able to do so. However, they can be taught to socialize and communicate. Most persons with autism do want to make friends and can love as deeply as any other person. They form close relationships with people who they are familiar with, such as relatives and caretakers. With time, they bond with their peers, teachers and therapists who they frequently interact with.

2. Myth: People with autism can’t feel or express any emotion—happy or sad. (2)

Answer: It is not that autistic individuals cannot feel or express emotions, but that they do so in a different or less expressive way. They do show a degree of empathy, and can recognize happy or sad faces. But when it comes to more subtle emotions, such as anger, fear or irony, they may have a harder time. Autistic people may have a more muted, less expressive way of displaying their emotions. Some get angry very quickly, while others may misread a situation and respond inappropriately; for example when they see someone fall down, they may laugh because they are not aware that the person may be hurt.

3. Myth: People with autism are intellectually disabled. (3)

Answer: Autistic individuals, like the rest of the general population, have a wide range of abilities. Many have difficulty with speech and language, and this may give the mistaken impression that they are intellectually challenged. When it comes to cognitive abilities, like any other person, there will be autistic subjects with intellectual disability. On the other hand, there are some who display outstanding prowess in mathematics, art, music, and other abilities.

4. Myth: Individuals with autism spectrum disorder cannot lead independent and successful lives. (4)

Answer: This is not necessarily true. Those who are more severely affected with limited language skills may have difficulty navigating our rather complex modern-day society without help. Those on the milder end of the spectrum can learn skills that enable them to get jobs, enter mainstream education, and lead independent lives. Training and special education can be very beneficial for autistic individuals, and this is highly encouraged.

5. Myth: Autism can be cured. (5)

Answer: The majority of autistic persons remain autistic all their life. They can make significant progress with early intervention, special education, and vocational training that has been specially tailored for the needs of each individual. At the moment many medicines have been tried to reduce the manifestations of autism, but to date, none of them are effective. With advances being rapidly made on the causes of autism, it is hoped that one day it may be possible to prevent or cure autism.

6.  Myth: Autism is caused by bad parenting. (6)

Answer: The theory that autism is caused by bad parenting, or mothers who lack emotional warmth (“refrigerator mothers”), has been disproven. When parents try to better understand and learn to connect with their children, they can help them flourish.

7. Myth: Autism is caused by vaccines. (7)

Answer: There have been many large-scale epidemiological studies that have shown conclusively that there is no scientific evidence to support any causal link between vaccination and autism.

8. Myth: Autism is caused by food allergies. (8)

Answer: To date, there are some isolated anecdotal evidence that some children’s autistic manifestations seem to worsen with certain foods, such as gluten (wheat), casein (milk), eggs, tomatoes, eggplant, avocado, red peppers, etc. However, there have been no large-scale studies to confirm these data. For the time being, one needs to maintain a healthy skepticism linking autism with food allergies. Thus at this stage, one should not restrict the autistic child’s diet.

9. Myth: Autism is becoming epidemic. (9)

Answer: The prevalence of autism in Singapore is 1 in 150, which is close to the worldwide statistics given by the World Health Organisation. There has been an increase in the number of cases being referred with a diagnosis of autism in the past 30 years, leading to an increase in the numbers diagnosed. In the USA for the year 2000, the prevalence of autism was 1 in 150, but in 2017, the prevalence has more than doubled to 1 in 68. How much of this is a real increase in the number of new cases is controversial. Some experts claim that most of the increase of cases stems from a growing awareness of autism and changes to the diagnostic criteria, especially the Diagnostic and Statistical Manual 5^th Edition (DSM-V).

10. Myth: Most autistic individual have special gifts or savant abilities. (10)

Answer: The prevalence of special abilities or savant skills in autistic individuals ranges from 0.5% to 10%. Famous examples include Stephen Wiltshire who has a photographic memory and can draw a city like Singapore after flying over it just once. Temple Grandin is the professor of animal science and a famous author. Kim Peek who has read 12,000 books and remembers everything about them. Leslie Lemke can play the Tchaikovsky piano concerto just listening to it once only. It is postulated that if one has a disability in one area, then the body compensates by developing expertise in another area.

11. Myth: Autism is not a “disease”. (11)

Answer: Is autism a “disease”, a “disability”, a “disorder”, a “condition”, or just a “difference”? The difficulty in trying to see which one of these different terms best fits autism is due to the wide spectrum of this condition. If one takes the severest cases, where the child is profoundly speech delayed, is totally isolated and alone, and flaps their hands or rocks their body endlessly, and continuing intermittently over many years, then it would be amiss of us to downplay the condition by dismissing it being “different”. This does not help the child or family. But at the other end of the spectrum, where autistic individuals can lead a fairly normal life, then it would be fair to say that autism is not a disease. If the problem were purely that of labeling, then it would be politically correct to substitute the word “disease” and consider autism a “disability”, a “disorder”, or a “condition”. As long autism is recognized as a potential problem and that the child and their family gets the help and support they need, then it’s fine to choose whatever term one is comfortable with.

12 Myth: The goal of treatment is to make autistic children “indistinguishable from their peers”. (12)

Answer: Currently, most therapies aim to improve social and communication skills, and reduce the restrictive repetitive movements of autistic individuals. There is a school of thought that suggests that hand-flapping, verbal echoing, and not engaging in social interaction is not pathological, but an adaptive strategy for that person to cope with a world that feels confusing, disordered, uncertain, and overwhelming. The solution is to dig deeper into the reasons for the behaviours, and to modify the environment. For example, if the autistic person is hypersensitive to noise or buzzing fluorescent light, or uncomfortable clothing, then the intervention is to change these environmental factors. There are no right or wrong answers, and probably one can try both paths and see which one works best. Currently most parents choose to modify their autistic child to fit into conventional norms.

13 Myth: We’re just over-diagnosing quirky kids with a trendy disorder. (13)

Answer: When Elon Musk claims to be on the autistic spectrum, or we place the label on Steve Jobs or Woody Allen, many of us raise our eyebrows. Are we too trigger-happy and over-diagnosing autism? Most of us “normal” or “neurotypical” individuals probably have share some autistic symptoms, like having obsessional habits or hobbies, or we may sometimes withdraw into a world of our own, or we cannot tolerate certain people or foods or clothing. So are we over-diagnosing autism especially at the milder end of the spectrum? The problem is that there is no clear cut-off point between normal and mild autism. Until we find an objective blood test or brain scan to confirm the diagnosis, we are likely to over-diagnose mild autism.

14 Myth: Autism is caused entirely by genetics. (14)

Answer: There is certainly strong evidence of the role of genes as a contributing cause of autism. Identical twins have a 70% chance of both being diagnosed with autism. In contrast, non-identical twins only have a 30% chance, and the general population has a less than 2% probability. If genetics were the sole cause of autism, the concordance rate for identical twins should be 100%. The shortfall suggests that another factor must play a role, and the most likely candidate for that is environmental.

15 Myth: Autistics Won’t Get into Higher Education or Get a Good Job. (15)

Answer: At the mild end of the spectrum, some autistic people excel in their studies which qualifies them for higher education. Some of them, like Elon Musk or Satoshi Tajiri who created Pokemon, have succeeded in their enterprise. At the severe end of the autistic spectrum, the poorly communicating, handflapping noisy individual who does not conform to society’s behavioural norms, might well be discriminated against. Currently the unemployment rate of autistic individuals is between 50%-85%. It is hoped that employers will learn to understand and accept the differences of autistic applicants. Also it would be our future hope that society will create more jobs suitable for people on the spectrum.

16 Myth: Only Boys Get Autism (16)

Answer: The ratio of boys to girls on the autism spectrum is 3 to 1. Is it because girls are under-diagnosed? Or is there a real difference in the ratio? If so, the reasons are still unknown.

REFERENCES

1 Denworth L. How people with autism forge friendships.

2 Brewer R, Murphy J. People with autism can read emotions, feel empathy.

3 What are the extremes of intelligence seen on the autism spectrum?

https://www.appliedbehavioranalysisedu.org/what-are-the-extremes-of-intelligence-seen-on-the-autism-spectrum/

4 Can a person with autism spectrum disorder live an independent adult life?

Can a person with autism spectrum disorder live an independent adult life?

5 What are the treatments for autism?

https://www.webmd.com/brain/autism/understanding-autism-treatment

6 Crowell JA et al. Parenting behavior and the development of children with autism spectrum disorder.

https://www.sciencedirect.com/science/article/pii/S0010440X18301925

7 American Academy of Pediatrics.  Vaccine safety: Examine the evidence.  https://www.healthychildren.org/English/safety-prevention/immunizations/Pages/Vaccine-Studies-Examine-the-Evidence.aspx

8 Inserro A. Is There a Link Between Autism, Food Allergies? Study Offers Hint But No Answers. https://www.ajmc.com/view/is-there-a-link-between-autism-food-allergies-study-offers-hint-but-no-answers

9 Hess P. Apparent new rise in autism may not reflect true prevalence.

10 Treffert DA.  The savant syndrome: an extraordinary condition. A synopsis: past, present, future. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677584/

11 Stevenson N. Autism doesn’t have to be viewed as a disability or disorder.

https://www.theguardian.com/science/blog/2015/jul/16/autism-doesnt-have-to-be-viewed-as-a-disability-or-disorder

12 Brennan D. Parenting a child with autism.

https://www.webmd.com/brain/autism/children-with-autism-coping-skills-for-parents

13 Healthline. Are we overdiagnosing autism?

https://www.healthline.com/health-news/are-we-over-diagnosing-autism#Better-diagnosis-or-overdiagnosis?

14 Mundell EJ. Autism Largely Caused by Genetics, Not Environment.

https://www.webmd.com/brain/autism/news/20190717/autism-largely-caused-by-genetics-not-environment-study

15 Autism Recovery Network. Why is the autistic unemployment rate so high?

16 Loomes R et al. What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis

https://www.sciencedirect.com/science/article/abs/pii/S0890856717301521

17 American Psychiatric Association (2013).  Diagnostic and statistical manual of mental disorders (5th ed.)

Autistic Savants

Stephen Wiltshire drawing Singapore

by Kenneth Lyen

INTRODUCTION

The most amazing paradoxes associated with autism is the savant syndrome.

A savant is an outlier with an incredible ability to perform tasks far beyond what most of us can achieve. And this takes place despite having a mental disability such as autism, or other neurological deficits. Examples of extraordinary accomplishments include having a prodigious memory, brilliant mathematical calculations, phenomenal music, art or language abilities. Most savants are only able to display an outstanding skill in one major domain, but there are some exceptions (1).

There may be some restrictions in the savant’s abilities. For example, some of the them are excessively focused on one skillset only, while others may be prone to repetitive compulsive behaviours, and yet others may have a problem finding functional applications for their abilities (2).

The prevalence of savant syndrome is about 1 in one million, and the ratio of males to females is around 6 to 1. Up to 50% of savants are said to be autistic. Looking at it from another angle, the number of savants observed in autistic people ranges from 1 in 10 to 1 in 200.

It is very easy to point at famous historical figures designating them to be autistic savants. These might include Michelangelo, Isaac Newton, Charles Darwin, Albert Einstein and countless others. However, the burden of proof is diabolical. How can you diagnose autism centuries after the departure of these celebrities? You are definitely unable to verify their diagnosis of autism on the Diagnostic and Statistical Manual 5^th Edition (DSM-V). But even if they were alive today, you will still have difficulty diagnosing them!

It should be pointed out that many savants are not autistic, but have some other disabilities. For example there is Nobuyuki Sujii who was born blind, but won several international piano competitions (3). John Nash, featured in the movie “A Beautiful Mind”, suffered from schizophrenia, and won the Nobel Prize for his mathematical game theory (4). Vincent Van Gogh is said to have suffered bipolar disorder, and produced some really remarkable paintings (5).

SAVANT SKILLS

There are some contemporary autistic savants that we can explore and get a more accurate diagnosis of autism. In the film Rainman, Dustin Hoffman plays the role of an autistic savant showing his phenomenal memory and his amazing powers of calculation such that he keeps on winning at Las Vegas’ blackjack. His character is based on real life autistic savants, including Kim Peek (6).

Below are listed are some savant skills displayed by prominent autistic individuals:

a) Calculations

Daniel Tammet’s genius is his ability to figure out complex mathematical calculations quicker than a calculator. He can recall pi (π ) to 22,514 decimal places. When Tammet is multiplying large numbers with each other, he arrives at the answer almost instantaneously and effortlessly. After an epileptic fit, he suffered from synaesthesia,  and started to see numbers as shapes, colours and textures, and he sees the number two as a motion, and the number five as a clap of thunder. He said: “When I multiply numbers together, I see two shapes. The image starts to change and evolve, and a third shape emerges. That’s the answer. It’s mental imagery. It’s like maths without having to think.” (7)

b) Prodigious Memory

Kim Peek, featured in the movie “Rainman” has an elephantine memory. He was born with a large head, damaged cerebellum and agenesis of the corpus callosum. His motor development was delayed, and he did not walk until he was 4 years old, and he could not button up his shirts. However he could speed-read both pages of a book simultaneously, and remember the contents of at least 12,000 books that he has read (6).

c) Calendar Savant

In addition to having a prodigious memory, Kim Peek also possesses the ability to know the day of the week when given a date. This ability is probably the most common skill of autistic savants. They do so effortlessly (6,8).

d) Music

There appears to be quite a number of autistic music savants, some of them may even have another disability, such as blindness. Music savants have the ability of picking music, like learning to play the piano, at an extraordinary rate. The may have a brilliant memory and can play a piece of music when they have only heard it once. There is one other interesting observation, and that is many autistic music savants possess absolute or perfect pitch. Derek Paravicini is a blind autistic savant who has given many public concerts, and featured on several television programs (9).

e) Art

Artistic savants can often draw from memory extremely accurately. Stephen Wiltshire is an artistic savant who was diagnosed to have autism at the age of 3. He draws many cities, including Singapore, after flying over just once (10).

f) Hyperlexia

Hyperlexia are autistic people who read voraciously and they can remember everything they have read. Rainman’s Kim Peek also has this ability (6).

AUTISTIC COMORBIDITIES

Autism is often associated with several other conditions, such as those listed below:

Attention Deficit Hyperactivity Disorder

Some 30% of autistic individuals also display attention deficit hyperactivity disorder. Famous entertainers like Woody Allen and Johnny Depp have self-diagnosed themselves as mildly autistic plus attention deficit hyperactivity disorder. The hyperactive brain tends to skip around, thus more likely to encounter novel ideas. Autistic individuals are often obsessionally focused on a narrow range of interests. The correct balance of these two traits may enhance creativity.

Bipolar Disorder

A number of autistic people are also known to roller coaster from mania to depression, also known as bipolar disorder. These mood swings can engender creative thoughts during the manic phase. Famous people thought to have bipolar disorder, but probably not on the autism spectrum, include Edgar Allan Poe, Sylvia Plath, Robert Schumann, Vincent Van Gogh, Tim Burton and Francis Ford Coppola.

Obsessive-Compulsive Disorder

Autistic people may have obsessional repetitive behaviours. It is sometimes difficult to differentiate Obsessive-Compulsive Disorder (OCD), the psychiatric condition characterized by obsessive thoughts and compulsive behavior, from autism. Famous persons who have displayed obsessive-compulsive tendencies include inventor Nicola Tesla, film and airline magnate Howard Hughes, and entertainer Marc Summers.

Epilepsy

Many autistic persons are also epileptic. Some brilliant people have a history of epilepsy, and because it is a brain condition, it is relevant when discussing brain functioning and creativity. There are at least two theoretical possibilities why epilepsy may have a beneficial effect on one’s thinking. Firstly the electric discharges that occur during an epileptic fit may cause flashes of new ideas. Secondly, recurrent epilepsy or the transient hypoxia it can engender might fortuitously cause minor damage to those areas of the brain that inhibit thinking, and this disinhibition of thought processes may enhance creative thinking. Famous people who suffered from epilepsy include: Julius Caesar, Alexander the Great, Napoleon Bonaparte, Pyotr Tchaikovsky, Charles Dickens, George Handel and Hector Berlioz.

Schizophrenia

Autism and schizophrenia have a long and tangled history. In fact autism used to be called childhood schizophrenia, and indeed there are some overlapping symptoms. Schizophrenia is a severe psychiatric disorder characterized by hallucinations, delusions, blunted emotions, disordered thinking, detachment from reality and withdrawal into the self.  It affects males and females equally. There is a strong genetic component. While the etiology is still not fully established, the current favorite biochemical theory revolves around disordered dopamine metabolism affecting certain areas of the brain. The most prominent example of a genius affected by schizophrenia is John Nash. Interestingly, Nash is quoted by biographer Sylvia Nasar as saying that he often refused to take medication for schizophrenia because it blunted his creative thinking (11). This sentiment is reflected by a number of artists and scientists suffering from other psychological conditions, such as bipolar disorder. The medical profession is therefore faced with a dilemma of deciding whether or not to treat mild mental afflictions knowing that medical treatment may smother creativity.

HOW DOES AUTISM CREATE GENIUSES?

Compensatory Adaptation

Just as the blind have a heightened sense of hearing and touch, and the deaf have increased sharpness of vision, certain types of mental disability may cause compensatory adaptation. The best candidate for this is dyslexia. If a dyslexic has difficulty with language, then he compensates by increasing his powers of visual perception.

Neural Connections

Recent advances in the neurophysiology of the autistic brain have shown that long-distant nervous connections are reduced, while short-distance local connections are increased. This local concentration of nerve networks is hypothesized to correlate with the obsessional focus of thoughts, and because the connections are close to one another, the speed of thinking is accelerated.

Direct Effects of Mood Swings

As mentioned above, autism may be comorbidly associated with bipolar disorder. Mild mania could have some benefits. It is associated with quicker thinking, greater verbal fluency, play on words, increased self-confidence, and greater optimism. Severe mania, on the other hand, can be counterproductive and may result in loss of concentration and wild behaviors. Mild depression can act as a sort of editor to prune the excesses of mania. But severe depression can dampen all activities and thinking. Once again, having an optimal balance of autism and manic-depression might lead to exceptional abilities.

Knight’s Move Thinking

Certain mental disorders like attention deficit hyperactivity disorder, bipolar disorder, and schizophrenia are characterized by sudden jumps in one’s thinking. These leaps from one idea to another can be quite unexpected and illogical, and are referred to as the chess “Knight’s Move” thinking. This way of thinking is important in creative thinking because it enables a person to make innovative leaps without being anchored by preconceived ideas or imprisoned by one’s sense of logic.

Famous People in History that may have Autism

Although unproven, it is always very tempting to try to diagnose autism in famous outstanding individuals. Here is a list of some of the more famous “savants”.

• Hans Christian Andersen – Children’s Author
• Lewis Carroll – Author of “Alice in Wonderland”
• Henry Cavendish – Scientist
• Charles Darwin – Naturalist, Geologist, and Biologist
• Emily Dickinson – Poet
• Paul Dirac – Physicist
• Albert Einstein – Scientist & Mathematician
• Bobby Fischer – Chess Grandmaster
• Bill Gates – Co-founder of the Microsoft Corporation
• Temple Grandin – Animal Scientist
• Steve Jobs – Former CEO of Apple
• James Joyce – Author of “Ulysses”
• Barbara McClintock – Scientist and Cytogeneticist
• Michelangelo – Sculptor, Painter, Architect, Poet
• Wolfgang Amadeus Mozart – Classical Composer
• Sir Isaac Newton – Mathematician, Astronomer, & Physicist
• Satoshi Tajiri – Creator of Nintendo’s Pokémon
• Nikola Tesla – Inventor
• Ludwig Wittgenstein – Philosopher
• William Butler Yeats – Poet

History’s 30 Most Famous People with Autism

FINAL THOUGHTS

Unanswered Questions

Several questions immediately pop up when probing autistic savants. First are we too restrictive in only looking out for a few talents, such as memory, mathematics, calendar calculations, music and art. What about other skills. What about cooking, gardening, architecture and fashion design? Recently entrepreneur Elon Musk claims that he has mild autism or Asperger Syndrome (12,13). Should he be considered a savant? What about cartoonists? Satoshi Tajiri, the creator of Pokemon, was diagnosed to have childhood autism (14). How wide should we expand our outstretched arms to embrace these other domains of achievements?

If you carried the conventional picture of an autistic person in your mind, perhaps someone with speech impairment, often isolated and not mixing with others, and obsessed by flapping or rocking motions, someone who usually requires special education, you would be surprised if you discovered that person has hidden talents. Not just a mild talent. But incredibly prodigiously ultra-talented. A person who is able to multiply large numbers faster than you can enter them into a calculator, or someone who on hearing a piece of music once can play it back flawlessly, or someone who can draw a major city with the number of windows of a multi-story building drawn absolutely correctly. You would be stupefied, your mouth wide open. And that’s the paradox of the autistic savant.

Yes, we know there is a link between genius and autism. But it is a complex one. It appears to be the result of a fortuitous convergence of a number of factors, including a minimum level of intelligence, the ability to join ideas from different domains, the skill in generating novel ideas, to be able to think independently and flexibly, to focus one’s mind, to apply self-discipline, perseverance, to establish the right social and cultural environment. All these factors need to converge to create a savant.

This raises that tantalizing question whether we can create that perfect physical, emotional and educational environment to produce a genius. By studying the mechanisms, both biochemical and educational, that link mental disorders and genius, one may gain insight into factors that can engender creativity and kindle future potential geniuses (15,16). 

In his book “Islands of Genius”, Daniel Treffert describes savants that sometimes appear unexpectedly after a head injury or a stroke. He asks the provocative question “Are all of us potential savants?” If we can wake up our dormant brains, perhaps all of us can become geniuses (17).

To sum up, here is a modified quote: “You don’t have to be mad to be a genius… but it helps.”

REFERENCES

1 Savant Syndrome. Wikipedia.

https://en.wikipedia.org/wiki/Savant_syndrome

2 Treffert DA. The savant syndrome: an extraordinary condition

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677584/

3 Nobuyuki Sujii: Wikipedia.

https://en.wikipedia.org/wiki/Nobuyuki_Tsujii

4 John Nash: How was schizophrenia portrayed in A Beautiful Mind?

https://www.banyanmentalhealth.com/2021/03/30/how-schizophrenia-was-portrayed-in-a-beautiful-mind/
 
5 Vincent Van Gogh: Nolens WA et al. New vision on the mental problems of Vincent Van Gogh.
https://journalbipolardisorders.springeropen.com/articles/10.1186/s40345-020-00196-z

6 Kim Peek: Wikipedia

https://en.wikipedia.org/wiki/Kim_Peek

7 Daniel Tammet: A genius explains.

https://www.theguardian.com/theguardian/2005/feb/12/weekend7.weekend2

8 Olson IR et al. A calendar savant.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917639/

9 Derek Paravicini. Wikipedia.

https://en.wikipedia.org/wiki/Derek_Paravicini

10 Stephen Wiltshire. Wikipedia.

https://en.wikipedia.org/wiki/Stephen_Wiltshire

11 Nasar S. A beautiful mind: the life of mathematical genius and Nobel laureate John Nash. Touchstone Books 2001.

12 Elon Musk reveals he has Asperger’s on Saturday Night Live.

https://www.bbc.com/news/world-us-canada-57045770

13 Elon Musk isn’t the first ‘SNL’ host with Asperger’s.

Elon Musk Isn’t the First ‘SNL’ Host With Asperger’s

14 Satoshi Tajiri: Famous people on the spectrum.

https://pubmed.ncbi.nlm.nih.gov/18646626/

16 Lyons V, Fitzgerald M. Critical evaluation of the concept of autistic creativity.

https://www.intechopen.com/books/recent-advances-in-autism-spectrum-disorders-volume-i/critical-evaluation-of-the-concept-of-autistic-creativity

17 Treffert DA. Islands of Genius. Jessica Kingsley Publishers 2011.

18 Rimland B & Fine D. Special talents of autistic savants. in The Exceptional Brain, New York, Guilford Press 1988.

19 Eysenck JJ.  Genius : The Natural History of Creativity. Cambridge Univ Press 1995

20 Howwe MJA. Genius Explained. Cambridge Univ Press 2001.

21 Fitzgerald M: Autism and Creativity. Routledge 2004.

22 Fitzgerald M: The Genesis Of Artistic Creativity: Asperger’s Syndrome and the Arts. Jessica Kingsley Publishers 2005.

Causes of Autism

by Kenneth Lyen

INTRODUCTION

Autism is a common but complex neurodevelopmental disorder characterized by early-onset difficulties in social communication and unusually restrictive repetitive behaviours and interests. It manifests as a wide spectrum, ranging from a mild hesitancy in communicating with others, to someone who barely talks to anyone else. It encompasses the person who physically displays obsessionally recurring movements, to the savant with exceptionally gifted mathematics or artistic talents.

Trying to discover the causes of autism is like finding one’s way through a dense forest with only the guide of a global positioning system, which sets the general direction you want to travel, but does not help you overcome the obstacles that can block your progress.

Because autism is a complex disorder, there are potentially many causes (1). We can stratify the causes into several layers. The basic layer will be the underlying genetic and environmental causes which will interact with each other. The genes will express themselves in many ways, including biochemically and neurodevelopmentally. The next layer to explore is the brain: how does the structure, neurocircuitry, and function of the brain modulate behaviour. Environmental influences are still pervasive, and can alter a child’s behaviour before or after birth. The factors potentially affecting foetal or child development are numerous, and may include food, infections, toxins, etc.

Diagnosis of Autism (2)

An important question that needs to be answered: “Is autism one condition, or is it several overlapping conditions?”  Is it a single diagnosis or is it a composite of several diagnoses. The clinical presentation of autism is variable with a diversity of expressions, and therefore the diagnosis can be challenged or refuted. Without a definitive diagnosis, how do we prove which cause is the right one? Could we have misdiagnosed autism in some cases?

Ideally autism is a single diagnosis which can be securely verified. Conventionally, the diagnosis of a disease is based on a reliable set of symptoms and signs, supported by clear investigation results. This is the problem with autism. As there is a spectrum of clinical symptoms, signs and investigation results, the diagnosis is often somewhat inconclusive. Thus, at the moment, we do not have a definitive clinical diagnosis for most individuals suspected of being on the autism spectrum.

If we can link relevant and replicable investigations to the clinical manifestations, we can formulate a hypothesis of cause and effect. Unfortunately, at the moment we have neither unarguable clinical findings nor clearcut investigatory findings.

Autism has a myriad of causes. This makes it difficult to pin down which aetiology is the dominant one. To date, there are no indisputable scientific experiments, no incontrovertible imaging or genetic findings that can pinpoint the main causes. For example, genetic probes which are the most promising research findings, have led to the discovery of hundreds of possible genes linked to autism. It is confusing. But complexity itself does not negate that one is on the right tract. It just makes it harder to prove the aetiology or aetiologies.

Associated Conditions (3)

Another confounding factor is that some autistic persons may have other associated conditions. Some 30% will have intellectual disability, and between 10-15% will have epilepsy. Other associated conditions include attention deficit hyperactivity disorder, epilepsy, large heads, obsessional compulsive behaviour, and gastrointestinal symptoms, etc. Each of these symptoms can be due to a separate diagnosis in its own right.  Clinically, it is important to decide whether or not these comorbidities should be viewed as part of the autistic diagnostic spectrum, or should they be disassociated into different categories? This will be explored later.

Epidemiology (4)

The prevalence of autism is between 0.6-2% of the population. Over the past few decades, the prevalence has been increasing.

This increased prevalence could be due to heightened public awareness, or the relaxation of the diagnostic criteria by the American Psychiatric Association in their Diagnostic and Statistical Manual 5^th edition (DSM-V). These two explanations have been questioned. If indeed there is a real increase in its prevalence, we need to explain why.

Another finding that also needs to be explained is the predominance of males diagnosed with autism. It is estimated that autism is between 3 to 4 times more common in males compared to females. Is this an artefact due to the underdiagnosis of autism in females? Or is it a real observation? If indeed there is a male predominance, can we explain it by attributing it to the influence of male hormones in antenatal brain development, or are there any other theories?

GENETIC CAUSES

Basic Chemistry

Currently, many significant advances in the causes of autism are found in genetic research. Autism can arise either from established inheritability from a parent, or it can be to the fresh de novo alteration of the genes before, during, or after birth.

The fundamental building blocks of genes are known as nucleotides and consist of nucleic acids. Chemically the nucleic acid is deoxyribonucleic acid or DNA. The DNA is encoded using four bases:  adenine (A), cytosine (C), guanine (G), and thymine (T).

Each human cell has 46 chromosomes. Each chromosome consists on average 660 million DNA base pairs, totaling 3 billion DNA base pairs per cell. Three base pairs code for one amino acid. When amino acids join up, they form polypeptides, which in turn becomes larger and become proteins. Genes can be of different sizes, ranging from a few hundred DNA bases to more than 2 million bases.

While we think of genes as responsible for the manufacture of proteins, we forget that most of our genes do not code for proteins. In humans only 20,000 genes code for proteins, and these are known as exomes or exons. They only comprise 1% of our genes. The other 99% are called introns, and because we still do not know what exactly they do, they are sometimes referred to as “dark matter”, not to be confused with the dark matter of our universe!

Why Are Genes Are Linked to Autism? (5)

It originates from the famous studies of identical and non-identical twins (6). When one twin has autism, then an identical twin has a 60% to 90% chance of developing it. In contrast, a nonidentical or fraternal twin of the same sex share the autistic diagnosis around 30% of the time, compared to boy-girl twin pairs that only share the diagnosis about 20% of the time. The concordance rate for different-aged siblings is about 10%, while the general population risk ranges from 0.5% to 1.8% depending on which country is surveyed.

The fact that the identical twin concordance rate is not 100% suggests that there must be other factors involved, most probably environmental.

Hunt for Variants or Mutations

Humans match each other quite closely, with 99.9% of the order of their base pair DNAs identical with one another. The non-identical 0.1% are known as variants and are either nonfunctional, or they may contribute to disease risk, or they may even protect one from diseases. Gene variants can arise from mutations. Nowadays the terms variants and mutations are used interchangeably.

Are variants or mutations inheritable? Yes and no. Some variants can cause inheritable diseases, like those associated with autism. Fortunately, they are relatively rare. Below are some of the inheritable causes of autism.

Inheritable Causes of Autism

How might genes give clues to understand the cause of autism? One way is to study inherited conditions that are associated with autism, like the ones below:

1. Fragile X Syndrome (7)

Inheritable forms of autism are relatively rare. For example, there is an abnormality of the X-chromosome, known as the Fragile-X Syndrome. This is a sex-linked (X-linked) dominant condition and 50% of the affected children will develop autism. Fragile X Syndrome is associated with the gene known as FMR1, and it causes multiple repeats of the base pairs. This results in hyperactivity of the glutamate receptor (mGluR5) in the brain.

Researchers developed a mutant mouse that lacked the FMR1 gene and reproduced the hyperactive glutamate receptor. When they reduced the glutamate receptor activity, it resulted in increased dendritic neuronal density and hippocampal protein synthesis. Another group increased Gamma-AminoButyric Acid (GABA) by giving an agonist, baclofen, it increased synaptic protein synthesis and increased neuronal density in the spinal cord.

2. Tuberous Sclerosis (8)

Tuberous sclerosis is an autosomal dominant disorder affecting one of two chromosomes. One has a variant called TSC1 which is located on chromosome 9q34.3 and the other is known as TSC2, which is found on chromosome 16p13.3. It causes a problem in the rapamycin MTOR signaling pathway in the hippocampus. A group of researchers looked at mice with deficits in one or two TSC1 genes in the cerebellum and the mice showed decreased neuronal activity, abnormal social interactions, and repetitive behaviours. Treating these mice with rapamycin improved neuronal activity and behavioural deficits.

Another group of scientists developed mutant mice missing one copy of TSC2 resulting in cognitive deficits, and they could treat adult mice with rapamycin which improved synaptic plasticity and behavioural deficits.

3. Rett Syndrome (9)

Another condition also involving the X-chromosome is Rett Syndrome. The gene affected is known as MECP2, and only girls are affected. A unique feature of this syndrome is the obsessional hand-washing motions. They have an awkward gait, and the condition worsens progressively. The mutations of the MECP2 gene results in abnormal neurons.

A mutant mouse lacking the MECP2 gene was developed, and these mice displayed some symptoms resembling Rett Syndrome. When they reactivated the MECP2 gene back to normal in adult mice, these mice regained some normal functioning including normalizing neuronal signaling in the hippocampus, which is found in autism.

4. Phelan-McDermid Syndrome (10)

Deletion of part of chromosome 22 in the region of 22q13.3 which is known as the Shank3 gene causes a disease known as Phelan-McDermid Syndrome. This is inherited as an autosomal dominant, and is associated with autism.

5. Chromosome 16

Chromosome 16 is interesting because not only is it associated with tuberous sclerosis (see above), but other parts of this chromosome, such as the regions 16p11.2 and 16p12.1 are associated with autism, delayed development and recurrent seizures.

The syndromes listed in Table 1 are frequently associated with autism, and they are inherited in an autosomal or sex-linked dominant manner. But they are relatively rare. By understanding the pathophysiology of these genetic disorders linked to autism, we can gain deeper understanding into the causes and potential treatment of autism.

The majority of persons with autism do not have any family history. They arise discontinuously, and therefore they are most likely due to new impromptu mutations, also known as de novo variants.

De Novo Variants (11)

De novo variations of the genes are usually thought to arise spontaneously and quite passively. Most do not cause any problems. But sometimes they can result in serious diseases, including autism. Spontaneous mutations may occur in either the sperm or the ovum before fertilization, or after fertilization. They are not inherited from earlier generations as they arise unexpectedly, but they will affect the offspring.

Genome-Wide Linkage Studies

To link genetic causes to autism, one of the methods is to do a genome-wide linkage study. This is achieved by trying to identify chromosome regions or loci that are inherited by affected individuals more frequently than expected by chance. But the scope was widened to search for all DNA variations in all families, whether several members are involved, or if only one member has autism.

Copy Number Variations (CNV) (12-14)

Early studies aimed to identify multiple copies of new variants. These copies range from 50 to thousands of DNA sequences. Most of these base pairs are duplicated, but some are deleted. Detection of these CNVs was originally done by inserting a fluorescent probe by in situ hybridization (FISH) that detects by binding to the genomes.

To discover which genetic mutation is responsible for autism, researchers compared the DNA of an autistic child with their parents and unaffected normal siblings. Early findings showed 65 genes that had strong correlation with autism, and an additional 170 genes with weaker association with autism. The interesting results show that many of these genes affect nerve transmission in the brain, and others affect the chromatin or DNA wrapped in a protein called histones. Chromatins are important because they modulate the function of DNA replication, and therefore they can be controlled by other proteins. This phenomenon is known as epigenetics.

One can line up these CNV mutations along one of the chromosomes. Take for example, chromosome 7q11.23. There are 5 mutations that cluster along this chromosome. This has created a lot of excitement because it has long been known that this particular chromosomal disorder has a missing section or deletion, found in a condition called William Syndrome. This condition is characterized by heart failure, a typical facial appearance, intellectual disability, and incredibly by an extremely sociable personality. This is the opposite of autism where there are duplications of the genes in this neighbourhood. It appears that deletion of part of the 7q11.23 chromosome results in hyper-sociability, while duplication of this area leads to reduced sociability found in autism.

So, historically, CNV analysis of genes was the first step that helped identify variants associated with autism. But it was quite soon after that another more precise technique became available.

Using new microarray technology, one could detect single gene errors, referred to as Single Nucleotide Polymorphisms (SNPs) Some of these SNPs are found in families with autism, and so one would then look for a particular area of the chromosomal region that they might be clustered.

Most autistic persons do not have other family members who are affected. Therefore to look for variants, scientists began to compare the genes of autistic persons with their non-affected parents and sibling. Realising that there are thousands if not millions of potential mutations, scientists began narrowing their attention at genes that only code for proteins, known as exomes. The exomes comprise just 1% of all our genes. Hence by limiting the search, it accelerated the identification of mutations that lead to errors in protein manufacture. In other words, the mistakes made by wrong coding can potentially result in making the wrong proteins, which can have many repercussions in altering structure and function.

Single Nucleotide Variant (SNV), Single Nucleotide Polymorphisms (SNP), Insertion/Deletion (Indel), and Copy Number Variations (CNV) (15)

Technology went a step further. One can now look at each individual base pair or genome. Several types of misreading errors were discovered. They include:

1 Misplacing a single base pair known as a Single Nucleotide Variant (SNV). The Single Nucleotide Variant (SNV) has the largest impact, but it is the rarest of the variants, occurring in once out of 3 million replications, and one base pair is affected. If more than 1% of the population has SNVs, we rename them Single Nucleotide Polymorphisms (SNPs) (15).

2 There may be either an accidental insertion of an extra base pair, or a deletion of the nucleotide, collectively referred to as “Indel” The Indel variant is second most common, occurring once every 250,000 replications, and can affect less than 1,000 base pairs.

3 The copying of a rather large stretch of the chromosome, known as Copy Number Variation (CNV). The commonest variant involving only one nucleotide is the Copy Number Variation (CNV), occurring once every 2,000 replications, and this can involve well over 1,000 base pairs.

Linkage Studies (16)

The first set of results were from studies of families with autism, and noting which chromosomes had more Single Nucleotide Polymorphisms (SNPs). The results are interesting, because nearly every chromosome of these families has clusters of SNPs. However, by looking at subsets of these families, including those where the autistic individual were more severely speech delayed or were males, they noted greater clustering of these SNPs. This made one more curious to try to delineate which genes have such effects on autistic people.

Whole Exome Sequencing (WES) (17)

Thanks to the human genome project, an international scientific research project that identified and mapped out all the base pairs or genes that make up human DNA. The project was started in 1990, and completed in 2003. The technology allowed one to sequence extraordinarily large numbers of Single Nucleotide Polymorphisms (SNPs).

Concentrating on those nucleotides that are tied to amino acid and hence protein synthesis, one could look at de novo variants of these SNPs. These nucleotides are known as exomes (also known as “exons”).

The search for the entire protein-manufacturing exomes is known as Whole Exome Sequencing (WES). This procedure has revolutionized the study of genes in autism. Using this new technology, scientists can look at all 21,000 genes comprising 180,000 exome nucleotides, which constitute about 0.6% of the 30 million base pairs of the entire human genome.

Although several hundreds of gene variations are found in autistic subjects, when they looked at the function of these genes, they were able to group them into their functions. One group of variants were involved in the neurons, influencing the neuronal cell adhesion molecules, and thereby affecting the function of nerves, while another group affected a ubiquitin pathway, which helps in the synthesis of new proteins, and the destruction of defective proteins.

With current whole exome sequencing, we can explore all the exome genes at the same time, which not only widens the search, but simultaneously cuts down the time taken for research.

Other Genetic Challenges

There are still several challenging problems that waiting for clarification:

Firstly, there are hundreds of genes associated with autism, some of them affecting nerve cell development and function, others affecting gene expression, a phenomenon known as epigenetics. Looking at the wide spectrum of autism, it seems quite likely that these different genes interact with one another and converge in producing the clinical picture of autism.

Secondly, the genes are expressed at different times of development. Some of them are active in early embryonic life, others later, and some after birth.

Thirdly, genes can affect different organs differently, and each organ can in turn interact with one another, perhaps altering their functions.

Overall, between 10-20% of people with autism have a de novo genetic mutation.

NEUROLOGICAL CAUSES

Brain Pathophysiology (18)

Exploring the genetics is only the first step in our attempts to understand the causes of autism. The next step is to understand the neuroanatomy and the neurophysiology, of the autistic brain and how it differs from the non-autistic brain. Fortunately, recently there have been major advances in mapping out the form and function of the brain and the nerve connections.

The brain has billions of nerve cells or neurons. However, in autism, these neurons are not communicating with each other appropriately. Researchers are trying to pinpoint which parts of the brain are affected, and what are the mechanisms of the problems found in autism.

Functional Magnetic Resonance Imaging (fMRI) (19,20)

One major advance in understanding the function of the brain is the development of functional magnetic resonance imaging (fMRI). This detects increased oxygen that is supplied to active brain nerve cells.

There have been many studies using fMRI to see how the brains of autistic individuals differ from neurotypical brains. For example. Autistic persons are said to be less sociable compared to non-autistic people.

The areas of the brain believed to be linked to sociable behaviour include the superior temporal gyrus and the amygdala. The test subject is asked to view a photo of a human’s eyes and then chose which of two adjectives better describes the person’s mental state. The non-autistic person shows activity in orbitofrontal cortex, superior temporal sulcus (STS), and amygdala in normal subjects. In contrast, autistic subjects were found to have no amygdala activation and abnormal STS activation. The reduced activity in these brain areas are thought to be due to reduced neuronal connectivity.

Diffusion Tensor Imaging MRI (21)

Diffusion tensor imaging is a form of magnetic resonance imaging (MRI) that detects the flow of water along the white matter of the brain. In so doing it shows the white matter connections in the brain.

Children with autism have increased connections of the shorter nerve fibres close to one another, and decreased connections with distant parts of the brain.

Magnetic Resonance Spectroscopy (22)

Another new development in magnetic resonance imaging is modifying conventional magnetic resonance imaging (MRI) to see a specific set of brain chemicals. For example one can now measure Gamma-AminoBenzoic Acid (GABA) which is an inhibitory transmitter, as well as glutamate, which is an excitatory transmitter. Autistic children had a higher glutamate concentration, and a lower GABA concentrations in their occipital cortex, suggesting that there is imbalance with increased excitation and decreased inhibition.

It is postulated that the ability to excite and inhibit brain function can be used to filter sensory information. Failure to dampen down excitatory stimuli can, for example enhance loud sounds or visual stimulation, which many autistic individuals do not tolerate well.

Knowing the neurotransmitters involved, adults with autism have undergone a trial where they were treated with riluzole, which blocks the pre-synaptic release of glutamate and facilitates GABA activity, and preliminary data are encouraging.

Electroencephalography (EEG) (23-26)

Epilepsy occurs in 1-2% of the general population but in 20-40% of those with autism. An abnormal EEG occurs in about 2-4% of the general population but in 50-80% of those with autism. These statistics suggest that the autistic brain may harbour some underlying disorder.

The use of simple resting state EEG has inconsistent results. But when combined with eye-tracking manoeuvres, the results correlate significantly with autistic subjects.

CONCLUSIONS

Finding the causes of such a complex condition as autism is highly challenging. Advances in genetics have uncovered hundreds of genes linked to autism. The precise mechanisms by which the genes lead to autism are still being explored. The other major areas of research are in the area of brain imaging, using functional MRI, diffusion tensor MRI, and magnetic resonance spectroscopy (MRS). They have also unraveled geographic areas and the function of these brain regions in relation to autism. These investigations have also been used to determine the efficacy of the treatment of autism.

FUTURE CHALLENGES

Hopes for the future include the following:

a) Prevention

Prevention is better than cure. If we can discover the causes of childhood developmental conditions, we may be able to prevent more of these states. Already the incidence of Down Syndrome and cerebral palsy has fallen. I hope that autism will follow suit. Whole genome sequencing during pregnancy or at birth may lead to earlier identification of autism before or shortly after birth can potentially lead to some form of intervention or therapy to correct biochemical deficiencies. Advances in gene therapy or genome editing (CRISPR) can one day correct mutations for many genes.

b) Inclusive Education

Different, not disabled. I do not believe in segregating children with differences into separate schools or institutions. Children have different abilities and interests, but we should not partition them into isolated schools. They can still join in other activities such as sports, art, music, dance, etc. We need to develop a mindset that we are all part of a family.

Better understanding of the neurophysiology of autism can help us better understand human neurodiversity, how each individual have their own unique brain connectivity and function.

c) New Technologies

Creating new technologies to help the disabled should be given more funding. Enhancing communication, facilitating the integration of special children into society, them to travel, shop, etc with ease can be developed further.

d) Stem Cells

Stem cells may one day be developed to produce different types of cells, either to replace neurons affected by autism, or to do research into which drugs or toxins can influence these stem cell neurons.

e) Dark Matter

We are currently looking at the protein-related exome genes which comprises only 1% of all our genes. We have barely started looking at the “dark matter” non-protein related intron genes. Like the Dark Matter in the universe, we have a long way to go, but we may be surprised by what this research might lead to.

f) Infant Brain Imaging Study (IBIS)

Ongoing studies using conventional magnetic resonance imaging scans (MRI Scan) coupled with electroencephalography (EEG) and eye tracking (ET) tests, applied to children between 6 months and 2 years old. These children are followed up with repeated MRI scans and psychological tests to detect early autism. The objective is to see if there are any early structural changes in the brain of children that can predict autism, which hopefully can lead to earlier intervention.

REFERENCES

1 Causes of autism. Wikipedia: https://en.wikipedia.org/wiki/Causes_of_autism

2 Diagnosis of autism. Wikipedia: https://en.wikipedia.org/wiki/Autism

3 Furfaro H. Conditions that accompany autism, explained. https://www.spectrumnews.org/news/conditions-accompany-autism-explained/

4 Epidemiology of autism. Wikipedia: https://en.wikipedia.org/wiki/Epidemiology_of_autism

5 Genetics of autism spectrum disorders. eMedicine:

https://emedicine.medscape.com/article/2024885-overview#showall

6 Marina Sarris. Twins study finds large genetic influence in autism.

https://iancommunity.org/autism-twins-study

7 Fragile-X and autism. https://fragilex.org/understanding-fragile-x/fragile-x-syndrome/autism/

9 Deweerdt S. Rett Syndrome’s link to autism, explained.

https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0323-9

11 De novo mutations in autism spectrum disorder

https://www.frontiersin.org/articles/10.3389/fgene.2018.00406/full

12 Zeliadt M. Autism genetics, explained.

https://www.frontiersin.org/articles/10.3389/fncel.2019.00057/full

15 Weiss LA. Autism genetics

https://www.medscape.com/viewarticle/713222_3

16 Holt R et al. Linkage and candidate gene studies in autism spectrum disorders

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987412/

17 Yu TW et al. Using whole exome sequencing to identify the causes of autism

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694430/

18 Brasic JR. Pathophysiology of autism spectrum disorder

https://emedicine.medscape.com/article/912781-overview#a3

19 Gabrielsen TP et al. Functional MRI (fMRI) connectivity in children with autism

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-018-0248-y

20 Way KW. Resting state (fMRI) abnormalities in autism spectrum disorders

https://www.nature.com/articles/s41598-019-40427-7

21 Solso S. Diffusion tensor imaging MRI in autism spectrum disorder toddlers

https://www.sciencedirect.com/science/article/pii/S0006322315005697

22 Ford TC, Crewther DP. Magnetic resonance spectroscopy (MRS) in autism spectrum disorder

https://www.frontiersin.org/articles/10.3389/fnmol.2016.00014/full

23  Bosl WJ et al. EEG analytics for early detection of autism spectrum disorder

https://www.nature.com/articles/s41598-018-24318-x

24 EEG in Children with Autism

https://www.corticacare.com/care-notes/why-and-when-are-eegs-recommended-for-children-with-autism

25 Zhang S, et al. Children ASD Evaluation Through Joint Analysis of EEG and Eye-Tracking Recordings With Graph Convolution Network

https://media.proquest.com/media/hms/PFT/1/azDMJ?_s=eVqI7gF2oCNAy1sS6k6UdXR8eTA%3D

26 Vettori S, et al. Combined frequency-tagging EEG and eye tracking reveal reduced social bias in boys with autism spectrum disorder
https://lirias.kuleuven.be/2911569?limo=0

Pharmacotherapy of Autism

by Kenneth Lyen

INTRODUCTION

Currently, no medicines have been proven to significantly improve the core symptoms of autism, namely the communication socialising difficulties, and the restrictive repetitive movements. Medicines can help with some of the associated manifestations  of autism, which include attention deficit hyperactivity disorder, obsessional compulsive behaviour, epilepsy, aggressive and self-injurious behaviour, anxiety, and abdominal symptoms.

What are the Main Targets for Therapy?

The main targets for therapy are to improve communication and social skills, to promote academic functioning, decrease negative behaviour, and ultimately to improve the quality of life of the autistic individual.

The proven ways of achieving most of these goals are through special education with trained teachers and therapists in a small class, preferably started early in the child’s life. The interventions include occupational therapy, physiotherapy, social skills training, speech and language therapy, and the use of music, art and sports to enhance all the therapies.

Is there a dichotomy between medical and non-medical therapies? Meaning, should medical therapy be relegated only to comorbid conditions associated with autism? Or should we combine special education and behavioural intervention strategies with medicines?

The answer must be, yes, one can indeed combine the different therapy modalities. Ideally all intervention strategies should be evidence-based. Therefore one needs to be careful in selecting the therapies and medicines. Trials are still ongoing comparing the different treatments of autism, and in reality many parents one cannot wait, and will embark on different therapies in the hope that some will be of benefit.

CONDITIONS ASSOCIATED WITH AUTISM

Attention Deficit Hyperactivity Disorder (ADHD)

About 30% of children on the autism spectrum have attention deficit hyperactivity disorder. This means they are easily distracted, and have difficulty focusing on a given task. Some of them cannot keep still and wander around aimlessly others have intermittent impulsivity in which they suddenly do things unexpectedly.

Examples of lack of impulse control seen in autistic children include disruptive behaviours when they interrupt you when you are in the middle of doing something, or when others are playing together they may intrude. Some may blurt out an answer even before you have finished asking the question, and others may have difficulty controlling their emotions and suddenly become angry.

Although there are several medicines available for managing ADHD, I shall focus only on two more commonly used:

a) Methylphenidate (1)

The first is methylphenidate, which is an amphetamine derivative without the addictive side effects of amphetamine. This works in about 50% of autistic individuals with ADHD, compared to those who do not have autism where the percentage of efficacy can be over 70%. We sometimes observe that one of the side effects of methylphenidate used in autistic ADHD is worsening of their social withdrawal. Their irritability is not worsened, and if they have tics, these also do not get worse.

There are two preparations commonly available, both containing methylphenidate. Ritalin is quick-release and therefore shorter-acting, lasting 4-8 hours, and Concerta which slow-releasing and lasts 10-12 hours. Ritalin can be given twice or three times a day, while Concerta is usually given only once daily. The latter is more convenient for children who may be spending an entire day at school.

b) Atomoxetine (2,3)

Atomoxetine is a selective noradrenaline reuptake inhibitor. It is effective in about 20-50% of autistic subjects with ADHD. Side effects are common, and include restlessness, depression and abdominal discomfort. It is usually given to those children who have side effects with methylphenidate.

Irritability, Aggressive Behaviour, Temper Tantrums, Self-Injuries

Many autistic children have a variety of behavioural issues. They range from irritability, aggression, temper tantrums and self-injurious behaviour. The initial management is to calm the person down, isolating them in a safe quiet room where there are no sharp or potentially dangerous furniture or instruments. If this type of therapy is ineffective or the person is at risk of harming either other people or themselves, then medical treatment may have to be considered. These include the following:

a) Risperidone (4)

Risperidone is an antipsychotic that blocks the dopamine and serotonin receptors in the brain. Both dopamine and serotonin are neurotransmitters that regulate one’s moods, especially the pleasurable sensations. It is therefore paradoxical why it is effective in irritable and aggressive behaviours because blocking happy and good feelings should worsen these behaviours.

Risperidone is given to children 5 years and older. It is effective in over 50% of cases, reducing irritability, aggressive behaviour, temper tantrums and self-injurious behaviours. It can be used for long-term. Side-effects are mainly sleepiness, increase in appetite leading to weight gain, drooling from the mouth, and rarely, it may cause involuntary movements, affect the heart, and induce suicidal thoughts. Giving the lowest dose that is effective, is advised. It may take up to 6 weeks before the full effects are seen.

The aggressive self-injurious behaviours often do not respond to risperidone. One can try some alternative medicines, including aripiprazole, clozapine, olanzapine, or ziprasidone, with careful monitoring for adverse effects.

b) Aripiprazole (5)

Aripiprazole is a tranquiliser, but its mode of action is complex. It is a partial agonist at the dopamine D2 and the serotonin 5-HT1A receptors, but it is an antagonist at serotonin 5-HT2A receptor. Exactly how does it exert its action in autism is still  unknown.

Aripiprazole is used in children aged 6 years and above. It is useful for severe tantrums, when a child might lash out at others, or when they might injure themselves. The dose should start small, and be gradually increased.

One of the side effects is known as akathisia, or restlessness, the feeling of “ants in the pants”. Other side effects are stiff jerky involuntary movements, muscle spasms, and slight weight gain.

Anxiety, Depression

Anxiety and depression are more prominent in older autistic individuals. Triggers for anxiety and depression may be being bullied at school or not getting their own way. These symptoms are often missed because many autistic people tend to be withdrawn and not very sociable in the first place. The depression can sometimes be quite profound and they may have suicidal thoughts. Warning signs of depression include increased sleepiness, becoming more on edge, more anxious, feeling sad, inattentive, and loss of appetite.

Cognitive behavioural therapy sometimes help reduce anxiety and depression. If non-medical therapies are  ineffective, it may be necessary to add an antidepressant to the management.

a) Selective Serotonin Reuptake Inhiibitors (SSRI): Fluoxetine (6)

The American Food and Drug Administration (FDA) approved the use of fluoxetine for children aged 8 years old and above, in 2017. There is some controversy concerning the use of selective serotonin reuptake inhibitors (SSRI) in autistic children.

The onset of fluoxetine is rather slow. There may be some improvement in symptoms after 1-2 weeks, but the full effect may take 4-6 weeks to reach full effect. The half-life is long, and when you stop taking, its effects will last at least 4 weeks. It is therefore advisable to slowly taper off the medicine over one month and not to stop it suddenly. Another important advice is that you should not mix two antidepressants together.

The side effects of fluoxetine increased impulsivity, insomnia. Occasionally, there are a few more serious side effects, known as the serotonin syndrome. These children experience sweatiness, muscle rigidity and a fast heart rate. Therefore, children who are treated with serotonergic agents should be evaluated at baseline before beginning treatment and then regularly evaluated for symptoms of a serotonin syndrome.

b) Benzodiazepine: Diazepam, Clonazepam

Benzodiazepines are tranquilizers that act by raising the level of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) in the brain. GABA weakens or slows down anxiety-inducing signals; low levels are associated with anxiety, and higher levels reduce anxiety. Benzodiazepines also have antidepressant effects, and they are also used to treat epilepsy.

They can help reduce anxiety in autistic individuals. However, it is not recommended for long-term use. The commonest side effect is drowsiness.

Epilepsy, Abnormal EEG and Repetitive Behaviour

Epilepsy occurs in around 12.5% of children from 2 to 17 years old. This compares to 1-2% of the general population that have epilepsy.

Some of children on the autism spectrum have repetitive movements such as hand flapping, clapping, running up and down, rocking two and fro, etc. It is hypothesized that the purpose of these behaviours is to enable the autistic person to cope with an unpredictable and slightly threatening environment. The repetitive movements are occasionally misdiagnosed as epilepsy or obsessive compulsive disorder (OCD). There is a distinction between diagnosis of OCD and autism; while both will exhibit repetitive behaviours, people with OCD are fully conscious of their repetitive behaviours, while autistic individuals do them without self-awareness. The treatment for OCD may not work for autism.

Valproic Acid (7-9)

Valproic acid is an anti-epileptic drug which surprisingly has shown to be effective for some children with repetitive behaviours. It is more effective in the children who also have abnormal electroencephalographic (EEG) findings. Side effects include drowsiness and hair loss.

Cognitive Enhancers

The use of cholinergic enhancing medicines to help autistic individual’s cognitive function is controversial, but some people believe that they improve memory, attention, the ability to interact with others, speak, think clearly, and perform regular daily activities.

Donepezil (10,11)

Donepezil binds reversibly to acetylcholinesterase and inhibits the hydrolysis of acetylcholine, thus increasing the availability of acetylcholine at the synapses, enhancing cholinergic transmission. Side effects include nausea, vomiting, diarrhoea, loss of appetite and frequent urination.

Social Responsiveness

Autism is characterised by poor social communication. Not surprisingly, there have been some attempts to enhance socialising.

Oxytocin (12,13)

Oxytocin is a peptide hormone produced in the base of the brain, a region known as the hypothalamus and promotes positive pro-social warn feeling. It plays a role in social bonding. There have been some studies that have shown oxytocin improves socialising in autistic people. The medicine is administered intra-nasally.

Sleep Disturbances

Autistic people may have difficulty falling asleep, and they wake up several times in the middle of the night.

Melatonin (14)

Melatonin is a hormone released by the pineal gland, released at night-time. It is associated  with the control of the sleep–wake cycle. It is quite widely used by the general public for treating insomnia and jet-lag. Studies have shown that melatonin can sometimes help autistic people who have sleep disturbances.

MEDICINES AND DIETS THAT DO NOT WORK

There are no large double-blind placebo-controlled trials for the treatments and medicines listed below. However, many parents believe that they work. Provided they do not do any harm, and are not prohibitively expensive or time-consuming, and if they do not displace therapies that are proven to work, then it is probably all right for  parents and patients to continue with the therapies below.

• Anti-Fungal and Anti-Yeast Medication
  • Anti-Yeast Medication
  • Flagyl (metronidazole)
  • Diflucan (fluconazole)
  • Nystatin
• Cannabis and Marijuana
• Chelation Therapy
• Complementary Alternative Medicine
• Transcraniosacral Magnetic Stimulation
• Essential Oils
• Fecal Microbial Transplantation
• Herbs and Homeopathic Treatments
• Hyperbaric Oxygen Therapy
• Iridology
• Magnets
• Marijuana
• Neurofeedback Therapy
• Secretin
• Special Diets
  • Gluten-free (wheat)
  • Casein-Free (dairy)
  • Gluten-Free plus Casein-Free Diet (GfCf Diet)
  • Sugar free
  • Removal of food dyes
• Vitamin and Supplement Therapy
  • Vitamin A
  • Vitamin B6
  • Vitamin B12
  • Vitamin C
  • Vitamin D
  • Magnesium
  • Dimethylglycerine (DMG)
  • Calcium
  • Omega 3 Fatty Acids

REFERENCES

1 Sturman N et al. Methylphenidate for children and adolescents with autism spectrum disorder. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486133/

2 Ghanizadeh A. Atomoxetine for treating ADHD symptoms in autism.

https://citeseerx.ist.psu.edu/viewdoc/download?doi=10.1.1.884.3461&rep=rep1&type=pdf

3 Eslamzadeh M. Assessment the efficacy of atomoxetine in autism spectrum disorders. https://sites.kowsarpub.com/ijpbs/articles/10596.html

4 Canitano R, Scandurra V. Risperidone in the treatment of behavioral disorders associated with autism in children and adolescents.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2536539/

5 Blankenship K et al. Aripiprazole for irritability associated with autistic disorder in children and adolescents aged 6–17 years. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3043611/

6 Nadeau J et al. Treatment of comorbid anxiety and autism spectrum disorders. SSRI. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809000/

7 Viscidi EW et al. Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701630/

8 Smith P. Understanding the Relationship Between Autism, OCD, and Repetitive Behaviors. https://autismspectrumnews.org/understanding-the-relationship-between-autism-ocd-and-repetitive-behaviors/

9 Carrasco M et al. Pharmacologic treatment of repetitive behaviors in autism spectrum disorders. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340598/

10 Eack SM et al. Cognitive enhancement therapy for adult autism spectrum disorder. https://pubmed.ncbi.nlm.nih.gov/29286586/

11 Srivastava RK et al. Role of Donepezil in Autism: Its Conduciveness in Psychopharmacotherapy. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420777/

12 Bernaerts S et al. Oxytocin treatment attenuates amygdala activity in autism: a treatment-mechanism study with long-term follow-up. https://www.nature.com/articles/s41398-020-01069-w

13 Wright J. Oxytocin spray boosts social skills in children with autism. https://www.spectrumnews.org/news/oxytocin-spray-boosts-social-skills-children-autism/

14 Gagnon K, Godbout R. Melatonin and Comorbidities in Children with Autism Spectrum Disorder. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6096870/

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