Prutha’ Case
Prutha, a 7-year-old girl, refuses to go to school, doesn’t like to make friends, cannot sit in one place for long, bangs her head repeatedly, and bites others sometimes. These increasing number of behavioural outbursts were beginning to worry her teachers and parents. At times she would harm them and other times she would seek a hug from them. She would over and again push her classmates, pull their hair and bite them occasionally. Her lack of focus did not allow Prutha to sit in one place and complete her school work. Her parents were also finding it difficult to manage her behavioural incidents at home. They decided to seek help and saw their paediatrician who referred them to a specialist. She was recently diagnosed with autistic disorder.
What is Autism?
Autism is not a single disorder but a gamut of disorders, hence it is preferably called autism spectrum disorder (ASD). It is a neurodevelopmental disorder influenced by both genetic and environmental factors affecting the developing brain. Deficits in social communication, presence of restricted interests and repetitive behaviours are the main characteristics of ASD.
ASD is more common in males. Other risk factors for ASD include increased parental age and prematurity. This could be due to the theory that older gametes have a higher probability of carrying mutations which could result in additional obstetrical complications, including prematurity. There is no evidence that vaccines, thimerosal, or mercury is associated with ASD, despite the much hyped Lancet article published in 1998. Also, no increased risk was observed after measles/mumps/rubella (MMR) vaccination.
What are the Different Levels of Autism?
There are three levels of ASD described in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) depending on how severe the disorder is and how much support is needed in their daily life.
|
Recent Classification |
Older Term |
Characteristics |
|
ASD Level 1 |
Autistic disorder |
1. Mildest 2. Able to speak in full sentences and communicate but have trouble engaging in back-and-forth conversation with others 3. May try to make friends, but not be very successful 4. May have trouble shifting between activities or trying new things 5. May have problems with organization and planning, which may prevent them from being as independent as other people their age |
|
ASD Level 2 |
Asperger’s syndrome |
1. Milder than level 3 2. More obvious problems with verbal and social communication than level 1 and also struggles with nonverbal forms of communication 3. Tend to have very narrow interests 4. Find it harder to change focus or move from one activity to the next 5. Engage in repetitive behaviours that can make it difficult for them to function in certain situations |
|
ASD Level 3 |
Pervasive developmental disorder not otherwise specified (PDD-NOS) |
1. Most severe 2. Problems expressing themselves both verbally and nonverbally can make it very hard to function, interact socially, and deal with a change in focus or location. 3. Very limited ability to speak clearly and will rarely start interactions with other people 4. Responds only to very direct social approaches from other people 5. Engages in repetitive behaviours |
How Does One Detect ASD?
Detecting ASD is no cakewalk. It can be a difficult task since there is no single medical test, like a blood test, to diagnose the disorder.
Specialists usually look at the child’s behaviour and developmental milestones to make an evaluation. ASD can sometimes be detected as early as 18 months of age or younger. However, many children do not receive a final diagnosis until they are much older, usually in adolescence or as adults. This delay in diagnosis may lead to people with ASD not getting the help they need, early in life.
Several societies recommend genetic testing for ASD, including the American Academy of Neurology, the AAP, ACMGG, and the American Academy of Child and Adolescent Psychiatry. The American College of Medical Genetics and Genomics (ACMGG) guidelines currently recommend chromosomal microarray for all children, fragile X testing in males, and additional gene sequencing, including PTEN and MECP2, in certain patients as first tier genetic testing in the work up of ASD. Studies indicate that whole exome sequencing may become the preferred method for clinical genetic testing in individuals with ASD.
Since every child with ASD is unique, further medical testing or subspecialist workups may be pursued based on specific characteristics of the patient.
Agilus Diagnostics, a subsidiary of Fortis Healthcare Limited
