By | February 5, 2015

Description of Medical Condition

Autism is a pervasive developmental disorder of early childhood characterized by severe impairment in:

• Effective social skills

• Absent or impaired language development

• Repetitive and/or stereotyped activities and interests, especially inanimate objects

System(s) affected: Nervous

Genetics: High concordance in monozygotic twins; increased prevalence in siblings

Incidence/Prevalence in USA: About 7 in 10,000 persons

Predominant age: Onset prior to age 3, but generally abnormal development is apparent well before

Predominant sex: Male > Female (2-4:1)

Medical Symptoms and Signs of Disease

• Impairment in social interaction:

– Inadequate or lack of use of multiple non-verbal behaviors, such as postures and facial expression

– Failure to develop appropriate peer relationships

– Lack of sharing interests and achievements

– Lack of social and/or emotional reciprocity

• Communication impairment:

– Delay or lack of development of spoken language without accompanying alternative modes of communication

– Impairment in initiating and sustaining conversation

– Idiosyncratic language with stereotyped or repetitive usage

– Lack of developmentally appropriate play, especially imitative

• Repetitive and stereotyped patterns of behavior:

– Abnormal preoccupations either in intensity or focus

– Inflexibility to non-functional activities

– Stereotyped or repetitive motor mannerisms

– Preoccupation with inanimate objects and their parts

What Causes Disease?

No single cause has been identified. It is generally believed that it is caused by abnormalities in brain structure or function. Research continues to investigate the link between heredity, genetics and medical problems. Questions regarding immunizations causing autism and associated pervasive developmental disorders are being investigated but not yet substantiated.

Risk Factors

• Certain medical conditions, including fragile X syndrome, tuberous sclerosis, congenital rubella syndrome, and untreated phenylketonuria (PKU)

• Sibling with autism

Diagnosis of Disease

Differential Diagnosis

• Other mental and CNS disorders including:


– Elective mutism

– Language disorder

– Mental retardation

– Stereotyped movement disorder

• Other pervasive developmental disorders including

– Reft disorder

– Childhood disintegrative disorder

– Asperger disorder


N/A (other than to rule-out associated conditions)

Drugs that may alter lab results: N/A

Disorders that may alter lab results: N/A

Pathological Findings


Special Tests

• Parents’ Evaluation of Developmental Status (PEDS)

• Pervasive Developmental Disorders Screening Test-Stage I (PDDST).

• Childhood Autism Rating Scale (CARS) rating system

• Checklist for Autism in Toddlers (CHAT) is used to screen for autism at 18 months of age

• Autism Screening Questionnaire has been used with children four and older

• Intellectual level needs to be established and monitored, as it is one of the best measures of prognosis

• EEG as autistic children have a markedly higher incidence of epilepsy which increases with age


Could be useful in ruling out associated conditions

Diagnostic Procedures

• Developmental history

• Psychiatric examination

• Psychological testing

• Comprehensive language assessment

Treatment (Medical Therapy)

Appropriate Health Care

Comprehensive structured educational programming of a sustained and intensive design

General Measures

• There is currently no cure for autism. Early diagnosis and initiation of multiple disciplinary intervention will help enhance functioning in later life.

Treatment goals: to improve language and social skills, decrease problem behaviors, foster independence and provide support for parents

• Consider consults: ophthalmology, otolaryngology, lead screening and metabolic testing, genetic screening, skin testing (for tuberous sclerosis) and others as needed

• Parent support groups and respite programs


• As tolerated by the child

• Educational specialized programs developed through local school system


No special diet

Patient Education

• The Autism Society of America, 7910 Woodmont Ave, Bethesda, MD 20814-3007; 800-autism;

• Atwood T, Wing L. Asperger Syndrome: A Guide for Parents and Professionals, Jessica Kingsley Publisher. 1997

• Siegel B. The world of the autistic child: understanding and treating autistic spectrum disorders. Oxford. England, Oxford University Press

Medications (Drugs, Medicines)

Drug(s) of Choice


Contraindications: N/A

Precautions: Risperidone may be associated with hyperglycemia and ketoacidosis

Significant possible interactions: N/A

Alternative Drugs

• Stimulant medications may be used to address concomitant symptoms of attention deficit disorder, such as impulsiveness, hyperactivity and inattention

• SSRI antidepressants, such as fluoxetine and sertraline have shown some help in reducing ritualistic behavior and improving moods

Clomipramine (Anafranil), a tricydic antidepressant, has been reported to decrease some forms of self-injurious behavior, obsessive/compulsive symptoms and compulsive, aggressive behavior

Buspirone (BuSpar) has in some individuals reduced hyperactivity and stereotyped behavior

• Neuroleptics have been used with limited effectiveness

• Risperidone (Risperdal) in low doses has helped socialization in some case reports

Gabapentin (Neurontin) is being used but no studies exist

Patient Monitoring

• Constant by caregivers. As indicated by physician, prescribed medical management.

• Intellectual and language testing every two years in childhood

Prevention / Avoidance

None known

Possible Complications

• Increasing incidents of seizure disorders

• Increased risk for physical and sexual abuse in autistic children

Expected Course / Prognosis

• Those who begin treatment at a young age have significantly better outcomes

• Prognosis is closely related to initial intellectual abilities with only 20% functioning above the mentally retarded level

• Communicative language development before age five is also associated with a better outcome

• The general expected course is for a life-long need of supervised structured care. Only 1-2% become independent.


Associated Conditions

• Mental retardation

• Attention deficit/hyperactivity disorder

• Phenylketonuria, tuberous sclerosis, and fragile X syndrome

• Anxiety


• Obsessional behavior

• Seizures

Age-Related Factors

Pediatric: Onset seen only in children under three

Geriatric: N/A


May be increased risk of autism in complications of pregnancy, labor and delivery


• Early infantile autism

• Childhood autism

• Kanner autism

• Pervasive developmental disorder

International Classification of Diseases

299.0 Infantile autism

See Also

  • Attention deficit/Hyperactivity disorder
  • Mental retardation
  • Anxiety
  • Fragile X syndrome
  • Depression
  • Seizure disorders
  • Schizophrenia

Other Notes

Refer also to Asperger syndrome