I was talking with a friend in the consulting room two weeks ago, who had unfortunately lost her sister to complications of autism spectrum disorder. I then took it unto myself to inform my wonderful readers on ASD, so help can be sought for these children and not just subjected to the wiles of witchcraft.
Normal parents would ask “why did my child develop autism?” A little boy who can rock himself in his chair up and down and actually get a knife to cut his head open when he is upset. This indicates how debilitating autism is. You could have a child who is very great at Math only or Science only but has difficulty in initiating conversations; this gives you a clue as to the likelihood of autism.
But bear in mind, Autism Spectrum Disorder is a spectrum of diseases consisting of
- Childhood autism
- Rett’s syndrome
- Other childhood disintegrative disorder
- Overactive disorder with mental retardation and stereotyped movements
- Asperger syndrome
- Atypical autism
- Pervasive developmental disorder not otherwise specified according to the international classification of diseases
This is not for the layman to try to wrap his mind around. Just for those really interested in psychiatry.
The prevalence rate for ASD is around 1% in high-income countries. This is relatively lower in low and middle-income countries as it has been reported in some systematic reviews. It is unclear if there has been a true increase in prevalence or if the increase in rates is as a result of recent increase in public awareness of ASD, broadening of the criteria for diagnosing autism, and more clinicians having a better understanding of the disorder. Autism Spectrum Disorder is used to denote impairments in mutual social communication, and a tendency to engage in repetitive stereotyped patterns of behaviors, interests and activities. A stereotypy is a frequent repetition of the same, typically purposeless movement, gesture, posture or vocal sounds or utterances.
ASD is a neurodevelopmental disorder that arises from atypical brain development, so core features are often present in early childhood, although they may not always be evident in childhood.
ASD consists of
- Abnormalities of social development
- Abnormalities of communication
- Restriction of interests and behaviors
The clinical presentation is remarkably diverse and is variable both between different individuals and even in the same individual at different ages.
In childhood, many individuals have an apparent history of early regression or lack of progress. Meaning they do not attain their required milestones or attain them at a late stage; such as walking and grasping pencils. Some of the earliest social communication symptoms are difficulties in joint attention (which is the shared focus of two individuals on an object; like a flying kite or an airplane), eye contact, lack of intention to communicate with others, lack of imitating plays by their parents and friends. Lastly, a lack of fascination with sensory stimuli.
The prevalence of ASD is much higher in boys than in girls, with a ratio as high as 5–6 to 1, but it is unclear if ASD is under recognized in higher functioning females.
RISK FACTORS AND AETIOLOGY
ASD has a strong genetic basis. The heritability of ASD in the population is around 90%. The rate of ASD is about 25 times higher in siblings of affected children than in the general population. The genetic architecture of ASD is complex. Like most psychiatric syndromes, the genetic predisposition in many cases results from the combination of multiple genes or just from a single gene. Sporadic cases could occur when they is a mutation in a single gene for an individual.
Neuroimaging studies have also provided useful insights into the neural substrates underlying ASD and the pathological changes that occur in the brain. They indicate that the brain matures along an atypical trajectory (growth). This leads to differences in neuroanatomy, functioning, and connectivity within the wider neural systems that probably mediate autistic symptoms and traits.
Exposure to drugs and toxins may increase autism risk. Exposure to valproate before pregnancy is a recognized risk factor for ASD, especially in the first trimester of pregnancy; children exposed in utero to valproate have an eightfold increased risk for ASD. Also, use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy used in treating depression, have also been suggested to modestly increase the risk of ASD, but data are weak. Lastly, exposure to toxins, especially pesticides, may increase ASD risk,
By the age of 4 years, normal children are able to form an idea of what others are thinking. As an example, consider a normal child who watches while another normal child is first shown the location of a hidden object and is then sent out of the room while the object is moved to a new hiding place. The child who has remained in the room will conclude that the child who left temporarily will expect the object to be in the original position when he returns to the room. A child with ASD tends to lack this appreciation of what another child is likely to be thinking. In the example, a child with ASD is likely to say that the child who left the room will think that the object has been moved to its new place. It is not certain how specific to ASD is this difficulty in appreciating what others know and expect, nor how central it is to the psychopathology. In any case, its cause is not known.
Impairment of frontal lobe executive functions which are involved in planning and organization, and impaired ability to extract high-level meaning from diverse sources of information, has been hypothesized to contribute to the ASD profile,
Longitudinal studies have found ASD to be a stable diagnosis. There is wide variation in outcome, with between <5% and 25% having a very good outcome from childhood to adulthood. For example, around 10–20% of children with childhood autism begin to improve between the ages of about 4 and 6 years, and are eventually able to attend an ordinary school and obtain work. A further 10–20% can live at home, but cannot work and need to attend a special school or training centre, and remain very dependent on their families and/or support services. The remainder, at least 60%, improve a little and are unable to lead an independent life; of which many need long-term residential care.
Those who improve may continue to show language problems, emotional coldness, and odd behaviour. As noted already, a substantial minority develop epilepsy in adolescence.
Overall, for many individuals there is gradual reduction in autistic symptoms and improvement in adaptive ability over time but there is marked variability in individual outcomes. The major predictors of better outcomes are higher IQ and presence of useful speech at age 5 years. Periods of transition can be particularly difficult, such as becoming an adolescent and then becoming an adult, where at times functioning can be seen to deteriorate. This may coincide with development of comorbid anxiety and mood disorders.
To explain in details the symptoms of ASD
- Abnormalities of social development. The child is unable to form warm emotional relationships with people (autistic aloneness) and might not respond to the parent’s affectionate behaviour by smiling or cuddling. Instead, they dislike to be picked up or kissed. They are sometimes no more responsive to their parents than to strangers, and do not show interest in other children. There can be little difference in their behaviour towards people and inanimate objects. A characteristic sign is gaze avoidance—that is, the absence of eye-to-eye contact.
- Abnormalities of communication. Speech may develop late or never appear. Occasionally, it develops normally until about the age of 2 years and then disappears in part or completely. This lack of speech is a manifestation of a severe cognitive defect. As children with ASD grow up, about 50% acquire some useful speech, although serious impairments usually remain, such as the misuse of pronouns and the inappropriate repeating of words spoken by other people, known as (echolalia). Some children are talkative, but their speech can be repetitive monologue rather than a conversation with another person. The cognitive defect also affects non-verbal communication and play, as the child might not take part in the imitative games of the first year of life, and later they do not use toys in an appropriate way. They show little imagination or creative play.
- Restriction of interests and behaviour. Obsessive desire for sameness is a term often applied to children with ASD stereotyped behaviour and to their distress if there is a change in the environment. For example, some children insist on eating the same food repeatedly, on wearing the same clothes, or on engaging in repetitive games. Some are fascinated by spinning toys. Odd behaviour and mannerisms are common. Some children carry out odd motor behaviors such as whirling round and round, twiddling their fingers repeatedly, flapping their hands, or rocking. This however could be a symptom of Attention Deficit Hyperactivity Disorder. Others do not differ obviously in motor behaviour from normal children.
- Other features. Children with ASD may suddenly show anger or fear without apparent reason. They may be overactive and distractible, sleep badly, or soil or wet themselves. Some injure themselves deliberately. About 25% of autistic children develop seizures, usually about the time of adolescence.
With respect to their Intelligence level, Cognitive difficulties are very common, and some form of intellectual disability is identified in 25–50% of individuals with ASD, with the most common pattern being poor language and social comprehension but with relative strengths—‘splinter skills’—in visuospatial abilities. Visuospatial skills are very useful in everyday life. Thanks to them, we can estimate the distance between two objects, which can be helpful, for instance, when parking a car to monitor the space between the car and the surrounding obstacles. We also use visuospatial skills when imagining a place or address that someone mentions, or when we mentally rotate objects in order to visualize what they would look like before actually doing it.
Among high functioning individuals (those likely to fall under the ICD-10 Asperger’s syndrome), the opposite pattern may occur, or there may be pragmatic difficulties with the social use of communication. Some children show areas of ability despite impairment of other intellectual functions, and in some cases they have exceptional but restricted powers of memory or mathematical skill. Some children with higher functioning often develop intense circumscribed interests that can be seen in typically developing children but are pursued in a solitary, non-social manner.
Although there is a tendency for core behaviors to improve over time, however some may persist and cause difficulties in the long term. Those affected can have difficulties with independent living, motor coordination, sensory sensitivities, sleep and eating problems, mental health difficulties, and behaviors that place themselves and others at risk.
With this forehand knowledge, identify these symptoms early in your child and seek early treatment, to make this world a better place.
This post is dedicated to Edwina, who lost her little sister to ASD, May her soul rest in perfect peace.
Thanks for reading. Enjoy your day!