AUTISM SPECTRUM DISORDER

Autism Spectrum Disorders are developmental disorders characterised by 

• Persistent deficits in social communication and social interaction.
• Restrictive repetitive and stereotyped pattern of behaviour and interests.
• Abnormal development that is usually present before the age of 3 years , although children’s difficulties may become obvious at a later age.

ASD was once considered an uncommon disorder, but in the last 15 years high quality studies have demonstrated an increase in the detected prevalence. 1 in 68 children are diagnosed with autism spectrum disorder.

Many medical conditions like fragile X syndrome , Downs syndrome , Tuberous sclerosis, preterm birth may be associated with increased prevalence of ASD. There may be a 5-10% ASD recurrence rate in siblings of children with ASD. There has been a discovery of many genes however a genetic cause can only be identified in 10-20% of children with ASD. Many non-genetic factors and environmental factors may be important in ASD.

Early signs of ASD may be absence of babbling by 12 months , no gesturing ( eg pointing , waving bye bye ) by 12 months , no single words by 16 months , or loss of language and social skills at any age.

Child may have impairment in eye to eye contact, poor social interaction , no joint attention ( two people looking back and forth at an object and each other). In addition child may have body rocking , finger twirling , spinning , hand flapping and tiptoe walking. Children with ASD may not engage in cooperative play and may have stereotypes speech with unusual vocalisations.

ASD may be associated with Obsessive Compulsive Behaviour, intellectual disability, epilepsy, vision and hearing problems, abnormalities of mood , chronic constipation, gastro-oesophageal reflux and sleep problems.

Diagnosing ASD may be difficult as there is no single test like a blood test to diagnose the disorder. Doctors look at the child’s behaviour and development to make a diagnosis. MCHAT is a good questionnaire to gauge the children at risk of developing ASD in younger children. DSM criteria via INCLEN ( developed by AIIMS Delhi) can be used followed by CARS ( Childhood Autism Severity scale)can be done to ascertain the severity. ISAA ( Indian Scale Assessment for Autism) can also be used.

With respect to investigations genetic investigations Fragile X syndrome testing can be considered. Genetic testing may be offered for children with autism spectrum disorder.Sleep EEG can be considered if there is history of clinical seizures or history suggestive of regression in cognitive skills. MRI Brain is not routinely done however may be considered for children who have abnormal neurological  examination or abnormally large head or small head , in the evaluation of atypical regression, seizures, intracranial manifestations of genetic disorders, abnormal neurologic examination, or other clinical indications. It is always better to do MRSpectroscopy if doing MRI Brain. Some metabolic testing may be recommended based on the history , any regression or examination of the child.There is no evidence at this time for routine testing of hair, blood, or urine for environmental toxins or heavy metals outside of laboratory screening for lead exposure.

There is evidence that “early intervention” for children with ASD improve parent-child interaction , language outcomes and cognition. Professionals involved in managing a child with ASD include a developmental paediatrician/paediatric neurologist , speech therapist , occupational therapist and a clinical psychologist. Dimensions of management include structured individualised training programme and parental counselling and training.

There is no single drug which can cure or control ASD. However sleep problems may be treated with melatonin. In addition constipation and gastro-oesophageal reflux can be treated. Omega 3 fatty acids may be helpful in hyperactivity. Multivitamins may be considered in dietary deficiency. Methyphenidate may be given if associated ADHD is present.

ASD is a lifelong condition. It has a highly variable course throughout childhood and teenage years.

In recent times , there has been a lot of discussion on preventive strategies in ASD. Since ASD is multifactorial with multiple genes interacting with each other and environmental factors both prenatally and early postnatally, prevention seeks the optimal manipulation of these factors. Older fathers, older or very young mothers may increase the risk of ASD. The role of assisted reproductive technology in the risk of ASD is not clear. Testing for maternal hypothyroidism and congenital hypothyroidism is important. Higher prevalence is seen in children born prematurely. Maternal folic acid supplementation , vitamin d , iron ,omega 3 fatty acid supplementation in pregnancy may be considered. It is very important for all members of the family to play , communication and interact with the preschool child. Following WHO guidelines on NO screen time in all children less than 3 years of age may be useful.