Medical, Medical School, Notes

Autism: Disease or Development Idiosyncrasy!

What is Autism?

Autism is a neuro-developmental disorder of impaired social interaction and communication and of restricted and repetitive behavior of any age. Autism is not a disease but a syndrome. It’s also Defined behaviorally as a syndrome consisting of abnormal development of social skills,sensory motor deficits,and limitations in the use of interactive language.It is characterized by variable development,resulting in good skills in some areas and poor skills in others as well. No single cause has been linked to the development of autism.Studies have failed to show an association between any vaccine and this following disorder.

Like we said, Autism is not a disease but a syndrome with multiple non genetic and genetic causes.In 1979 Lorna Wing and Judy Gould developed a tripartite or three-way description of autism.This describes a cluster of features that continue to provide part of the diagnostic criteria for autism.They are referred to as impairments in social development, language and communication, thought & behaviour.They are now worldwide popularly referred to as Wing’s ‘Triad of Impairments in Autism’. Baron-Cohen (1985) concluded that, as the children with autism had scored 100% accuracy in both the reality and memory questions alongside their peers without autism. This signified that their inability to ‘put themselves into others shoes’ or ‘egocentrism’ (as it can be called) is conceptual rather than perceptual. In other words,whilst children with autism see the world as others see it, they apparently cannot appreciate what others are thinking or see the world from another’s perspective or thoughts. It is essential to note that children without autism begin to develop the ability to take on other people’s mental perspectives at a very young age. Some famous psychologists have suggested that this ability is known as ‘conceptual role-taking’, and may be possible as early as two years of age.


The identity and number of genes involved in autism remain still unknown. Literally Autism could result from more than one cause, with different manifestations in different individuals that share common symptoms. The Documented causes of autism include some factors like, genetic mutations and deletions, viral infections, and encephalitis following vaccination. Therefore, it is a fact that autism is the result of genetic defects and inflammation of the brain. These inflammations could be caused by a defective placenta, immature blood-brain barrier, the immune response of the mother to infection while pregnant, a premature birth, encephalitis in the child after birth, or even by a toxic environment.

Many years ago review of 2 major textbooks on autism of papers published convincing evidence for multiple interacting genetic factors as the main causative determinants of autism. Moreover, epidemiologic studies indicate that various environmental factors such as toxic exposures, perinatal insults,teratogens & pre-natal infections such as rubella and cytomegalovirus account for few cases. These studies are unable to confirm that immunizations with vaccines which are measles-mumps-rubella vaccine are responsible for the surge in autism. The medical condition most highly associated with autism which is Epilepsy, has equally complex genetic or can be non-genetic (though unknown) causes. Autism is more frequently seen in tuberous sclerosis complex and fragile X syndrome, on the contrary these 2 disorders account for a small minority of cases. A putative speech and language region at 7q31-q33 seems most strongly linked to autism, with linkages to multiple other loci under many investigations & researches. Cytogenetic abnormalities at the 15q11-q13 locus are more likely in people with autism and a “chromosome 15 phenotype” was described in individuals with chromosome 15 duplications. Among other candidates the genes are the FOXP2, RAY1/ST7, IMMP2L, and RELN genes at 7q22-q33 and the GABAA receptor subunit and UBE3A genes on chromosome 15q11-q13. Lastly, variant alleles of the serotonin transporter gene that is 5-HTT on 17q11-q12 are more frequent in individuals with autism than in nonautistic populations respectively.


Evidence-based pharmacology in autism as known here ASD is currently limited to the treatment of occurring behaviours or diagnoses, not ASD by itself. Risperidone and aripiprazole have improved symptoms of irritability or agitation in maximum children and also adolescents with ASD in randomised controlled trials. Overall, with use of these two medications, the majority of children show improvement in irritability and agitation, which includes aggression, self-injury, and other disruptive behaviours. Both drugs are mixed dopamine receptor and serotonin receptor antagonists or can be partial agonists as well and are in a class commonly termed atypical antipsychotics. Not all similar medications are helpful in ASD. Both drugs can also cause adverse events, including sedation ,weight gain, increasing risk of later more health problems. Metformin is helpful in ameliorating weight gain due to following medications in ASD. A few medications typically used to treat ADHD, including methylphenidate, atomoxetine,and guanfacine (also show benefit for ADHD symptoms in ASD, which occur in over a quarter of children). Each of these drugs yields less benefit and with more adverse effects in individuals with ASD. The available studies suggest that these three drugs should be limited to use in children with ASD who have co-occurring ADHD.

Children with ASD and co-occurring epilepsy or other neurological disorders should be treated on the basis of evidence in children without ASD.It is reasonable to similarly adapt evidence from the general paediatric population for the treatment of mental illnesses that co-occur with ASD, such as anxiety and mood disorders & so on. Despite the frequent co-occurrence of epilepsy, anxiety disorders, and mood disorders with ASD, no randomised controlled trials have evaluated whether medications for these co-occurring disorders show sort of similar response rates or adverse events in maximum people with ASD. Caution should therefore be used, with preference for lower-risk treatments, including behavioural and psychosocial interventions. A few supplements, such as sulforaphane and folic acid have some biological plausibility and some pilot evidence, but more research is also needed. Lastly, care should be taken to avoid harm associated with non-evidence-based treatments, such as toxicity due to chelating agents or hyperbaric oxygen.


Autism is today seen as a spectrum that can range from mild to severe. The outlook for many individuals with autism spectrum disorder today is brighter than it was years ago which is autism spectrum disorder (ASD) has gone from a narrowly defined, rare disorder of childhood onset to a well publicised, advocated, and researched lifelong condition, recognised as fairly common and heterogeneous.

Although individuals with ASD are very different from one another, the following disorder is characterised by core features in two areas:- social communication and restricted, repetitive sensory-motor behaviours-irrespective of culture, race, ethnicity, or socioeconomic group. ASD is now an alarming topic which results from early altered brain development and neural reorganisation.

Now there is a single ASD spectrum situation based on the two domains (social communication and restricted, repetitive or even unusual sensory–motor behaviours). Asperger’s disorder and pervasive developmental disorder which are subtypes, not otherwise specified, which were unreliably used by physicians, are now consolidated under the single diagnosis of ASD

In Hong Kong, The following study has included 4,247,206 person-years from 1986 to 2005 for children less than 13 years old and 1,174,322 person-years for those less than 5 years old in Hong Kong. Altogether, 645 children 0 to 5 years old with diagnoses of autism spectrum disorder were identified from 1985 to 2005. The estimated incidence of autism spectrum disorder was 5.17 per 10,000. The prevalence was 16.1 per 10,000 for children less than 15 years old for the same period. The male to female ratio was 6.58:1. This is the first reported epidemiologic study of autism spectrum disorder in Chinese(Hong Kong) children. The incidence rate is similar to those reported in Australia and North America and is lower than Europeans even nowadays.

Cure & Awareness:

In the past there have been many physicians who proposed “cures” for autism. These have ranged from psychodynamic psychotherapy to operant conditioning (1987). Currently, we do not know the etiology of autism & it’s related diseases and cannot cure it. The neurological disorder affects the way the brain processes all information. Persons with autism who have the best outcomes are those that know they have autism and understand what that means like, “my brain works differently”.

Although many treatments have been proposed, there is only one treatment that has passed the test of time and is effective for all children whether autistic or normal, that is, structured educational programs geared to the person’s developmental level of functioning. Other treatments might be helpful at different points in an autistic person’s life. It is important to keep an open mind and educate ourselves regarding new treatments as they become available. However, the majority of other treatments proposed for autistic people have yet to be proven scientifically.

It is imperative that parents and professionals educate themselves before making a treatment decision, remembering that what is right for one child may not be right for another. Treatment decisions should always be made individually after an assessment and based on what is appropriate for that particular child and family at that point & in that time. Periodic re-evaluation is mandatory as it needs change as a person with autism develops and matures.The most important thing to remember when attempting to evaluate any treatment program for autism,is that every child with autism is an individual and what is appropriate for one child may or may not be appropriate for another. However we must approach any new treatment with hopeful skepticism. As yet, we do not know the specific cause of autism and therefore cannot cure it. The goal of any treatment must be to help a person with autism & become a fully functioning member of our society. Any treatment approach that does not aid in this long-term goal is not appropriate.

In addition, we must always beware of any program that claims to be appropriate for every individual with autism. Autism is a heterogeneous disorder and is present in many forms. Therefore, what may be appropriate for one autistic child at a given time may not be appropriate for another child or for the same child at a different time. As it is noted, each person with autism is a unique individual, so, we must beware of programs that do not consider this factor. This can often result in harmful programming decisions. The usefulness of a particular program or treatment must be evaluated for each autistic person individually. Periodic reassessments of a treatment plan need to be made to assure that individual needs are continuing to be met as the person with autism matures. Failure to consider each person as an individual can result in not providing that opportunity to learn the skills necessary to function in society.We must always be aware that still no one has the “magic bullet” that cures autism. Therefore, any treatment approach must be viewed as one of several options available. It is important to evaluate the pros and cons of each approach and examine how it would facilitate reaching the long-term goal of independent functioning properly.


Wonderful Sight of this fabulous children

So, we can see, autism is not a disease rather it is a matter of developmental process. An autism member can play a vital role in society or even in family if we all help & try to make him/her think that he/she can do it. As, Autism is unique in person to person it should be treated not as a disease but as development idiosyncrasy.