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Autism Spectrum Disorder, Pediatric

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

- 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)

- 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/OfficialM-CHATWebsite.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

- 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

  • Neurodevelopmental disorder characterized by the following:Delays/impairments in development of social communication and social interactionRestricted, repetitive patterns of behavior, interests, or activitiesSymptoms present in early childhoodSignificant 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 femalesFemales 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 interactionDelayed language developmentImpairment in eye contact, facial expression, nonverbal social behaviors (pulling parents by hand but not looking at them)Lack of pointingImpaired social interactions and relationshipsLack of imaginary play appropriate to developmental levelDoes not include others in play
  • Stereotyped behaviors and restricted interestsStereotypies (e.g., rocking, hand flapping)EcholaliaRestricted range of interests/activitiesAttachment to unusual objects, fascination with parts of objectsBehavioral rigidity, distress with changes in routineHyper- 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, clonidineSleep disturbances: melatonin, clonidine, trazodoneSeizures: newer anticonvulsants, carbamazepine, phenytoin, valproate, barbiturates (may worsen hyperactivity/irritability)Hyperactivity/attention difficulties: psychostimulants, atomoxetine, bupropion, clonidine, guanfacineObsessive-compulsive disorder symptoms/perseveration: SSRIs, clomipramineTic disorders: guanfacine, clonidine, atypical/typical antipsychoticsDepression: SSRIs, bupropion, venlafaxineAnxiety: 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 yearsImportant to monitor baseline glucose and lipids as atypical antipsychotics are associated with metabolic syndromeUsed 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 assessmentCognitive ability and adaptive skillsSpeech language assessment with both receptive and expressive language measuresOccupational 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.