How to diagnose Autism?
How common is Autism?
Autistic Spectrum disorder was first described in 1943 by Kanner. It is not a rare condition. It is more prevalent than cancer or diabetes in children, with current incidence of 1:500 children.
Why should Autism be diagnosed early?
Autism is a treatable disorder. Early screening and identification are crucial for improving the outcomes of children with autism. Accurate diagnosis leads to improved functioning and reduces the severity of symptoms.
When do the symptoms present?
The improved understanding of this medical disorder has emerged over the past 2 decades only though symptoms are present in 1st year the children usually diagnosed between 2-3 years.
Can Autism be diagnosed by a blood test?
There is no biological marker or laboratory test for the diagnosis of autism. History remains the most important tool used to screen.
Who can Diagnose?
The diagnosis of autism requires a comprehensive multidisciplinary approach. Diagnosis and evaluation should be performed by professionals who specialise in the treatment of children with autism like child psychiatrists, psychologists, neurologist etc. The doctor should co-ordinate the work of the other service providers to avoid duplication of the work.
A thorough medical and neurological evaluation should be performed to look for any medical explanation of the symptoms
Then the diagnosis is confirmed by formal evaluation by at least 2 trained professionals independently.
What are co-morbidities with Autism?
Co morbidities are prevalent and difficult to diagnose in children with autisms because of communication problems. They are usually under diagnosed.
All children with Autism should be screened regularly for Sleep difficulties, eating problems, pica, ADHD, Seizures, aggression, anxiety, depression, learning difficulties etc.
What investigations are needed?
Investigations vary and need to be individualised.
EEG should not be done routinely. Performed only if clinical seizures or history of regression.
MRI brain or Neuro Imaging is not to be done routinely. It is performed if any neurological features are there which are not explained by autism. Functional imaging modalities (MRI, SPECT and PET) are considered for research purposes only
Metabolic screening should be done if only clinically indicated.
Genetic testing if clinically indicated, for Fragile X, Karyotype, Rett Syndrome etc.
Should they be evaluated for Allergies?
Allergy testing, hair analysis for trace elements, micronutrients such as vitamin levels are not recommended.
What are the available treatment modalities?
Behavioural modification and applied behavioural analysis (ABA) are the main stay of treatment.
Dietary modification does not have scientific evidence. The dietary restrictions if at all are to be prescribed, have to be done under supervision of trained medical doctor. Adequate supplementations should be prescribed as children are grown and lack of essential nutrients can be detrimental.
Management of Co- morbidities is important as they are chronic and not transient. They tend to persist and impair the quality of life of the child.
Can this condition occur again in the next pregnancy?
Almost 50-fold increased risk of having a second child on the autistic spectrum (1 in 20 to 1 in 10, as compared with 1 in 1,000 to 1 in 500 for the general population)
Autism is a treatable condition with a wide range of outcomes. Information about the benefits of early intervention for children with autism needs to be widely disseminated to health care professionals and others working with young children and families. Health care providers and others need to increase their comfort level in talking with families about autism, which is a treatable disorder.
Paediatricians can and should play an important role in raising a suspicion of autism, paving the way to appropriate referral to professionals knowledgeable about autism.
Dr. Pranathi Gutta, MBBS ; MRCPCH(UK)
Consultant Paediatric Neurologist,
Apollo Health City, Jubliee Hills, Hyderabad