Autism Spectrum Disorder – causes, symptoms and diagnosis

Autism Spectrum Disorder is a neurodevelopmental disorder that is characterized by defects in social interaction and communication with restricted activities, behaviors and interests.


The global prevalence of ASD as per a systematic review is 7.6 per 1000 individuals. It is two to three times more common in males than in females.


It is a complex disorder with no single cause.

  1. Genetic: several genes and genetic changes are associated with ASD. Some genetic changes may be inherited while some others occur spontaneously.
  2. Environmental factors: many researchers are focusing on researches to test the influence of medications, viral infections and complications during pregnancy in triggering Autism Spectrum Disorder.

Associated conditions and syndromes

A number of neurodevelopmental disorders and conditions are associated with ASD.

  • 50 percent of patients have attention deficit hyperactivity disorder
  • 30 percent have epilepsy
  • 25 percent of patients with ASD have a clinically defined conditions like tuberous sclerosis complex, fragile X syndrome, Angelman syndrome and Rett syndrome

Clinical presentation

Majority of patients with ASD present a lack of communication skill before the age of two. They also have a lack of interest in activities with delayed verbal communication and altered empathy. Most patients have repetitive behavior.

Some patients have certain behavioral disturbances like difficulty in organization and over focus on preferred topics. Often develops specific routines and rituals. They lack typical social skills. Language skills are also apparent.

In children the spectrum of manifestations include:

  • Nonexistent communication
  • Fails to respond to own name
  • Resistant cuddling and holding
  • Communication with no eye contact and abnormal gestures
  • Delayed language development
  • Speaking short phrases and single words
  • Atypical tone and uneven pacing
  • Inability to understand normal questions and simple directions
  • Poor performance in group learning and non-preferred topics
  • Sleep disorders
  • Feeding problems

Special skills: some patients have special skills in music, arts, memory, puzzles, mathematics and calendar calculations.


Diagnostic and statistical manual of mental disorders DSM – 5 diagnosis is characterized by

  • Defects in social interaction and communication, nonverbal communicative errors, defective development and deficits in understanding relationships.
  • Repetitive and restricted pattern of activities and behaviors.

The 10 th version of international classification of disorders defines autism spectrum disorder as a pervasive developmental disorder.


Management should be individualized based on the patient. The goals are to maximize the functioning ability and to improve quality

Behavioral interventions: provide better educational support with individualized support.

Psychopharmacological interventions: like anxiety, sleep disorders, obsessive compulsive disorder, aggression, depression etc. should be treated with medications.


Jose J Kochuparambil

I love the quote -' be the change that you wanna see in others'

2 thoughts on “Autism Spectrum Disorder – causes, symptoms and diagnosis

  • April 2, 2019 at 4:57 pm

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