Basics
Description
- Neurodevelopmental disorder characterized by the following:
- Delays/impairments in development of social communication and social interaction
- Restricted, repetitive patterns of behavior, interests, or activities
- Symptoms present in early childhood
- Significant impairment in functioning
- Diagnostic criteria changes since 2013:
- The Diagnostic and Statistical Manual of Mental Disorders 4th edition (DSM-IV) previously included autistic disorder, Asperger disorder, Rett disorder, childhood disintegrative disorder, and pervasive developmental disorder, not otherwise specified within overall category.
- DSM-5 has eliminated these separate diagnoses due to insufficient evidence.
- DSM-5 added severity levels (1-3) based on the level of support required.
- Associated with specific and known genetic disorder (e.g., fragile X) in minority of cases
- Behaviors exist along continuum with unclear boundaries between trait and disorder.
Epidemiology
Prevalence
- Approximately 1% of population
- Rate rising over past decades
- 4 times more common in males than females
- Females are more severely impaired with intellectual disability.
Risk Factors
- Strong genetic influence
- Risk in 1st-degree relatives 2-10%
- Multiple genes involved
- Other risk factors: closer spacing of pregnancies, advanced maternal or paternal age, extreme premature birth (<26 weeks), possible maternal inflammation in utero
- Link to vaccinations not supported by scientific evidence
- Cause(s) unknown but may be associated with abnormalities in cortical laminar architecture during prenatal brain development
Commonly Associated Conditions
- Intellectual disabilities
- Gastrointestinal problems
- Seizure disorders
- Sleep disorders
- Attention problems, anxiety, depression, mood disturbances
- Aggression and self-injury
Diagnosis
Typically, pediatricians are the first point of contact and play an important role in screening and early recognition, followed by more in-depth evaluation with a developmental pediatrician, psychologist, child psychiatrist, or neurologist where assessment and treatment plans can be coordinated with the schools.
History
- A detailed prenatal, developmental, medical, family, and social history are essential.
- Delays/impairments in social communication and social interaction
- Delayed language development
- Impairment in eye contact, facial expression, nonverbal social behaviors (pulling parents by hand but not looking at them)
- Lack of pointing
- Impaired social interactions and relationships
- Lack of imaginary play appropriate to developmental level
- Does not include others in play
- Stereotyped behaviors and restricted interests
- Stereotypies (e.g., rocking, hand flapping)
- Echolalia
- Restricted range of interests/activities
- Attachment to unusual objects, fascination with parts of objects
- Behavioral rigidity, distress with changes in routine
- Hyper- or hyporeactivity to sensory input or unusual sensory interests in objects or persons (smelling, touching, sensitivity to clothing)
Physical Exam
- Evaluate for growth disturbance.
- 20-30% have macrocephaly: neurocutaneous disorder, storage disease, hydrocephalus, or no identifiable cause
- Signs of self-injurious behavior
- Stereotypical behavior, involuntary movements, motor coordination abnormalities, mirror/overflow movements
- Ophthalmologic/audiologic evaluations to rule out visual or hearing deficits
- Long, thin face; prominent ears: fragile X (macroorchidism may not be present until after puberty)
- Wood's lamp examination: Neurocutaneous syndromes and hypopigmented macules/fibromas suggest tuberous sclerosis.
- Microcephaly: toxoplasmosis, other viruses, rubella, cytomegalovirus, herpes virus (TORCH) infection; Angelman syndrome; Rett disorder
- Look for spasticity, visual loss, ataxia: leukodystrophy
Diagnostic Tests & Interpretation
Lab
- Electroencephalogram if epilepsy is suspected (~25%)
- Head MRI/CT: if intellectual or focal neurologic deficit is present or if suspected neurocutaneous disease
- Chromosome studies: if child is intellectually disabled
- Microarray analysis increasingly recommended
- Toxoplasma, other viruses, rubella, cytomegalovirus, herpes virus titers: setting of microcephaly
- CBC: evaluation of growth delay and/or pica
- Blood lead level: rule out lead intoxication
- Thyroid function tests: rule out hyper-/hypothyroidism
- Audiogram/brainstem auditory evoked response: for children with speech and language delay and to rule out hearing deficits
- Ophthalmologic evaluations to rule out visual deficits
Diagnostic Procedures/Other
- Screening tools
- Modified Checklist for Autism in Toddlers (M-CHAT) with new Revised with Follow-up Version downloadable at http://www2.gsu.edu/~psydlr/M-CHAT/Official_M-CHAT_Website.html
- Social Responsiveness Scale (SRS)
- Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview (ADI-R) are structured interviews and assessments usually performed by a psychologist, developmental pediatrician, psychiatrist, or neurologist: considered the gold standard
Differential Diagnosis
- Intellectual impairment: MAY not have autistic spectrum disorder if communication, behavior, play, and social skills appropriate to developmental age
- Social (pragmatic) communication disorder: lack of restricted, repetitive patterns of behavior or interests
- Rett syndrome: females; hand washing/hand-wringing movements, head growth deceleration before 48 months of age, MeCP2 gene
- Deafness: delayed/absent oral language acquisition; behavioral/social difficulties may relate to language delays.
- Language disorder: no deficits in social interactions or restricted range of interests
- Landau-Kleffner syndrome: distinct abnormal EEG, aphasia; children appear deaf
- Selective mutism: Early development is not disturbed.
- Anxiety, ADHD, obsessive-compulsive disorder, reactive attachment disorder or schizophrenia
Treatment
Medication
- Pharmacotherapy treats associated symptoms of autism.
- Symptoms/medications to consider:
- Self-injurious behavior: atypical/typical antipsychotics, guanfacine, clonidine
- Sleep disturbances: melatonin, clonidine, trazodone
- Seizures: newer anticonvulsants, carbamazepine, phenytoin, valproate, barbiturates (may worsen hyperactivity/irritability)
- Hyperactivity/attention difficulties: psychostimulants, atomoxetine, bupropion, clonidine, guanfacine
- Obsessive-compulsive disorder symptoms/perseveration: SSRIs, clomipramine
- Tic disorders: guanfacine, clonidine, atypical/typical antipsychotics
- Depression: SSRIs, bupropion, venlafaxine
- Anxiety: SSRIs, buspirone, venlafaxine, benzodiazepines (may increase disorganization and agitation)
- Aggression: atypical antipsychotics, SSRIs, anticonvulsants, guanfacine
- U.S. Food and Drug Administration (FDA)- approved medications include aripiprazole for ages 6-17 years and risperidone for ages 5-16 years
- Important to monitor baseline glucose and lipids as atypical antipsychotics are associated with metabolic syndrome
- Used for associated aggression and irritability
Alert
- Autism spectrum disorders vary greatly in symptom presentation. Discordancy among clinicians' diagnoses and under- and overdiagnosis of these disorders are common.
- Symptom presentation differs at different stages of development.
- Medication often not helpful for core autistic features and patients often develop side effects
- Subclinical seizure types may be detected only on electroencephalogram.
Additional Treatment
General Measures
Nonpharmacologic
- Psychoeducational assessment
- Cognitive ability and adaptive skills
- Speech language assessment with both receptive and expressive language measures
- Occupational therapy may be needed for sensory or motor difficulties
- Early sustained structured behavioral intervention using applied behavior analysis (ABA) and behavior modification highly beneficial in many children
- Vocational training important for some adolescents and adults
- Social skills training especially for higher functioning patients is essential.
- Education and support for parents and siblings integral to treatment
- Conventional psychotherapy not indicated to address core features of autism and pervasive developmental disorder
Complementary & Alternative Therapies
- Almost 1/3 of children with ASD have received some form of complementary and alternative medicine (CAM).
- Important to ask and understand what is being used
Ongoing Care
Follow-up Recommendations
Patient Monitoring
- Prognosis linked to cognitive ability and acquisition of social/communication skills
- Early intervention and provision of services can improve prognosis.
- If no language by 5 years of age, substantial language development is unlikely.
- Children with autism/pervasive developmental disorder often require lifelong treatment and support.
- Physician should remain active in long-term treatment planning and individual and family support.
Diet
Little systematic evidence to support that gluten-free diets are helpful, but there are many claims of their effectiveness
Additional Reading
- Committee on Children with Disabilities. Technical report: the pediatrician's role in the diagnosis and management of autistic spectrum disorder in children. Pediatrics. 2001;107(5):E85. [View Abstract]
- Greenspan SI, Brazelton TB, Cordero J, et al. Guidelines for early identification, screening, and clinical management of children with autism spectrum disorders. Pediatrics. 2008;121(4):828-830. [View Abstract]
- Gutstein S, Sheely R. Relationship Development Intervention Activities For Young Children. London, United Kingdom: Jessica Kingsley Publications; 2002.
- Johnson CP, Myers SM; American Academy of Pediatrics Council on Children with Disabilities. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120(5):1183-1215. [View Abstract]
- Meyers MM, Johnson CP; American Academy of Pediatrics Council on Children with Disabilities. Clinical report: management of children with autism spectrum disorders. Pediatrics. 2007;120(5):1162-1182. [View Abstract]
- Moeschler JB, Shevell M; American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117(6):2304-2316. [View Abstract]
- Rogers SJ, Vismara LA. Evidence-based comprehensive treatments for early autism. J Clin Child Adolesc Psychol. 2008;37(1):8-38. [View Abstract]
- Scahill L, Martin A. Psychopharmacology. In: Volkmarr FR, Klin A, Paul R, et al, eds. Handbook of Autism and Pervasive Developmental Disorders. Hoboken, NJ: Wiley; 2005:1102-1122.
- Stoner R, Chow ML, Boyle MP, et al. Patches of disorganization in the neocortex of children with autism. New Engl J Med. 2014;370(13):1209-1219. [View Abstract]
- Volkmar F, Siegel M, Wodbury-Smith M, et al. Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorders. Am Acad Child Adolesc Psychiatry. 2013;53(2):237-257. www.aacap.org. Accessed November 30, 2014.
Codes
ICD09
- 299 Autistic disorder, current or active state
- 330.8 Other specified cerebral degenerations in childhood
- 299.8 Other specified pervasive developmental disorders, current or active state
- 299.9 Unspecified pervasive developmental disorder, current or active state
- 299.1 Childhood disintegrative disorder, current or active state
ICD10
- F84.0 Autistic disorder
- F84.2 Rett's syndrome
- F84.5 Asperger's syndrome
- F84.8 Other pervasive developmental disorders
- F84.9 Pervasive developmental disorder, unspecified
- F84.3 Other childhood disintegrative disorder
SNOMED
- 35919005 pervasive developmental disorder (disorder)
- 68618008 Rett's disorder (disorder)
- 23560001 Asperger's disorder (disorder)
- 408856003 autistic disorder (disorder)
FAQ
- Q: What are the chances of having a 2nd child with autism?
- A: In families with 1 child with autism, the recurrence risk for subsequent children is 3-7%. This is in contrast to the risk in the general population, which is 0.1-0.2%.
- Q: What is the value of brain imaging in autism?
- A: MRI may help diagnose a heritable syndrome with genetic counseling implications (e.g., leukodystrophy, tuberous sclerosis) but is usually unhelpful in high-functioning cases without severe intellectual impairment and focal neurologic findings.
- Q: Does the MMR vaccine cause autism?
- A: There is no causal association between the MMR vaccine and autism.