Autism

DR. PRANJAL PATEL (PT)

MPT NEUROSCIENCES
Introduction
Autism is a behavioral syndrome present from early life and defined by deficient social
interactions, language and communication and play
Autism belongs to the group of developmental disabilities that include mental retardation,
cerebral palsy, learning disability, communication disorders and attention deficit disorders
Autism was first described by Dr. Leo Kanner in 1943
At the time of its first description, autism was felt to be a condition caused by the family
psychodynamics
The concept changed in the 50’s when it was noted that seizures occurred much more
frequently in autistic children than in the normal population.
Etiology
Autism is not a disease
It is one of the developmental disorders of the brain function
Although it is a well defined behavioral syndrome
Its causes are not known in the majority of cases
Unlike other developmental disabilities, prenatal and perinatal factors do not play a major role
in the etiology of autism
Small number of children have a known association such as fragile X-syndrome, Tuberous
sclerosis, congenital rubella, infantile spasm, structural abnormalities and metabolic disease
Genetic Factors
Association of autism in general disorders such as tuberous sclerosis, phenylketonuria and
fragile X syndrome gives credence to genetic factors playing a role in autism
Pathophysiology
The occurrence of seizures more frequently in autistic children than in normal population, is an
indication of disturbances in the cerebral cortex
Few initial NMR spectroscopic studies, PET and neurophysiological studies have shown
abnormalities in parietal and frontal association cortex
Neuroimaging and neuropathologic studies have revealed lesions in the cerebellum such as:
1. Cerebellar hypoplasia
2. Purkinje neuronal loss
3. loss of cerebellar granule cells
Clinical Features
Children with autism are brought with some of the complaints like speech and language delay,
impairment of comprehension of language, fluent but unintelligible jargon, impairment of social
interaction, poor eye contact, gaze avoidance, lack of reciprocal social smile, hyperactivity
Flapping hands, toe walking, excessive water play are some of the odd behavioral manifestations
Many of the autistic children are irritable, chronically unhappy, making parent’s life absolutely
miserable and unbearable
Seizures are more common in autistic children than in general population
The incidence of seizures increases with age reaching 25% in adolescence
The majority of children with autism have retard range
But 30% have an IQ of 70 or more. Some autistic children have “ Islands of brilliance”.
Investigations
These include hearing, speech and languages, psychological, educational and psychiatric
evaluation
EEG when seizures are present
Neuroimaging-CT scan, MRI and PET
Management
Autism remains as the most difficult disability to manage and requires a multidisciplinary
approach
The team should include pediatrician, psychologist, psychiatrist, social worker, speech
pathologist, special education and teachers
Anticonvulsants and drugs used for hyperactivity
Parent counselling through pediatric psychiatrist is perhaps the most important part of the
management
Course and prognosis
Factors favorable to a good prognosis are normal intelligence, good communicative skills at the
onset and absence of seizures
Symptoms that can be improved by therapy are eye contact, cognitive skills and communication.
An attitude of hopefulness and continued effort is needed on the part of both doctor and the
parents.