Autism Spectrum Disorder

DSM-5 Criteria for Autism Spectrum Disorder

Persistent deficits in social communication and social interactions across multiple contexts

1. Deficits in social reciprocity (reduced sharing and conversation)
2. Deficits in non-verbal communication (abnormal eye contact, body language)
3. Deficits in developing, maintaining, and understanding relationships

Restricted, repetitive patterns of behaviour, interests – at least 2 of these:

1. Stereotyped or repetitive motor movements of speech (motor stereotypies, echolalia)
2. Insistence on sameness, inflexible adherence to routine (change causes distress)
3. Highly restricted, fixated interests of abnormal intensity and focus
4. Hyper- or hypo-reactivity to sensory input (indifference to pain, fascination with lights or movement)

Pervasive Developmental Disorders

• Disorders under the Autism spectrum as of DSM V
  • Early infantile autism
  • Childhood autism
  • Pervasive developmental disorder NOS
  • Childhood disintegrative disorder
  • Asperger’s disorder

Autism Spectrum Disorder

Autism is derived from the Greek word “autos”, meaning self. It reflects the fact that autistic children seem to lack interest in other people. It was first described by Dr Leo Kanner (1943). It manifests as markedly abnormal social interactions and the ability to communicate, abnormal patterns of interest and patterns of behaviour. Children usually have severely blunted social interaction, problems with language acquisition or development, preoccupations, and ritualistic behaviours. Symptoms are usually recognised between 12 and 24 months of age. The diagnosis is clinical. Autism must be diagnosed before age 3. The cause is idiopathic (it is not associated with vaccines!).

Autism is a chronic condition, and the prognosis is variable.

The two most important predictors of adult outcome are intellectual functioning and language impairment.

Affects 1% of the population – there has been a recent increase in prevalence, probably related to expansion of the diagnostic classification, or increased awareness. Affects males more than females (4:1 ratio)

Autistic Savants (derogatory): People with autism who have extraordinary talent in certain areas.

• Theory
  • Children with autism have been described as lacking the “theory of mind”
  • They are unable to understand the world from the perspective of others
  • Thus, they are unable to read social cues and understand the reactions of others
  • They also prefer objects to faces and avoid eye contact. This makes it difficult to learn to engage in social interactions
• Etiology
  • Prenatal neurological insults, e.g., infections and drugs
  • Advanced paternal age
  • Low birth weight
  • Genetic causes: Fragile X syndrome, Down syndrome, Rett syndrome, Tuberous sclerosis
• Associations
  • Intellectual Disability
  • Epilepsy
• Red flag symptoms for autism spectrum disorder
  • Rapid deterioration of social and/or language skills during the first 2 years of life
• Signs and symptoms
  • Persistent impairment in reciprocal social communication and social interaction. This impairment is pervasive and sustained
    • Deficient socio-economic reciprocity
    • Difficulty processing and responding to complex social cues
    • Deficits in non-verbal communication, e.g. absent or atypical use of eye contact, gestures, facial expressions, body orientation, or speech intonation
  • Restricted, repetitive patterns of behaviour, interests, or activities
    • Simple motor stereotypies
    • Repetitive use of objects
    • Repetitive speech
    • Excessive adherence to routine
    • Highly restricted, fixated interests that are abnormal in intensity and focus
    • Apparent hyper or hypoactivity to sensory input
  • Language deficit ranging from delays, poor speech comprehension, echoed speech or stilted and overly literal language
• Differentials
  • Hearing impairment: will enjoy social interaction
  • Selective mutism: the child will be talkative in some settings
  • Asperger’s syndrome: ALWAYS have normal language functioning
  • Rett’s syndrome: will also have motor abnormalities, e.g. hand flapping. Affects girls only
• Treatment
  • Family counselling/Psychoeducation
  • Cognitive Behavioural Therapy
  • Individualised education plan
  • Low-dose atypical antipsychotics (risperidone, aripiprazole): supportive care for disruptive behaviour, aggression and irritability

Asperger’s Syndrome

Asperger’s syndrome is characterised by normal or above average intelligence, but poorly developed or delayed development of social skills. Similarities with autism include social difficulties and stereotyped behaviour. However, language is not delayed or deviant (linguistic skills are preserved). Patients usually have an ‘unusual prosody’ – use a pedantic manner of speech (using language in a more formal and structured way).

Asperger’s syndrome is commonly referred to as ‘high-functioning autism’ – most people with Asperger’s syndrome learn to cope with their condition.

Prevalence is 0.04% of the population. There is an increased risk of depression and poverty among members of the general population.

• Differentials
  • Schizoid personality disorder: similar to the fact that they have deficits in social interaction. Schizoid personality will, however, be emotionally blunted and indifferent to praise/criticism.
• Treatment
  • Social skills training

Childhood Disintegrative Disorder

Childhood disintegrative disorder is characterised by normal development through at least age 3, followed by significant/ complete deterioration in social interaction, language skills, control over bowel and bladder, and the development of autism-like behaviours, e.g. preoccupations and ritualistic behaviours. Patients will also have some degree of motor deterioration.

• Treatment
  • Behavioral therapy
  • Long-term assisted care
  • Atypical antipsychotics for behavioural disturbances

Rett’s syndrome

Rett syndrome is characterised by normal development before 18 months of age, followed by symptoms characteristic of autism and motor disturbances. It only affects girls. Diagnosis is clinical, but a definitive diagnosis is made if the MECP2 gene is mutated.

• Differentials
  • Autism: will not have motor abnormalities
• Treatment
  • Occupational therapy
  • Physical therapy
  • Speech therapy
  • Atypical antipsychotics for severe behavioural disturbances
  • Parental counselling