> Table of Contents > Autism Spectrum Disorders
Autism Spectrum Disorders
Macario C. Corpuz, MD, MBA, FAAFP
Jennifer Luo Powell, DO
image BASICS
DESCRIPTION
  • Group of neurodevelopmental disorders of early childhood: DSM-5 has included autism spectrum disorders (ASDs) to include autistic disorder, childhood disintegrative disorder, Asperger disorder, pervasive developmental disorder not otherwise specified (PDD-NOS); and now, it also encompasses early infantile autism, childhood autism, Kanner autism, high-functioning autism, and atypical autism (1)[A].
  • Two symptom clusters
  • Social/communication
  • Impairment of effective social skills and absent or impaired communication skills
  • Fixed interests/repetitive behaviors
  • Repetitive and/or stereotyped behaviors and interests, especially in inanimate objects (2)[A]
  • Severity levels
    • Level 1: requiring support
    • Level 2: requiring substantial support
    • Level 3: requiring very substantial support
  • Important to distinguish autism disorder from social (pragmatic) communication disorder. Separate DSM-5 criteria for individuals with social communication deficits but do not meet autism-spectrum criteria.
EPIDEMIOLOGY
  • Predominant age: onset in early childhood
  • Predominant sex: male > female (5:1)
Pediatric Considerations
Symptom onset seen in children <3 years of age (except for childhood disintegrative disorder)
Prevalence
  • According to the Centers for Disease Control and Prevention (CDC), an estimated 1/68 to 1/175 children, depending on the community
  • Among 6 to 17 years-aged children within the United States, in 2011 to 2012, there is found to be a 2% (1 in 50) parent-reported prevalence compared to 1.16% (1 in 86) as reported in 2007.
ETIOLOGY AND PATHOPHYSIOLOGY
  • No single cause has been identified.
  • General consensus: A genetic abnormality leads to altered neurologic development.
  • No scientific evidence relating vaccines, such as vaccines for measles, mumps, or rubella (MMR), or thimerosal causing ASDs (3)[C]
  • Pathophysiology is incompletely understood.
Genetics
  • High concordance in monozygotic twins
  • Increased recurrence risk (2-18%) in subsequent siblings
RISK FACTORS
Siblings of affected children have a five times greater risk of developing autism. Prevalence ranging from 2% to 8%
GENERAL PREVENTION
  • Early screening for early treatment means a better prognosis.
  • Some ASDs are caused by genetic or chromosomal disorders.
  • Economic costs
    • An additional $17,000 to $21,000 is an estimated cost for raising an ASD child.
    • Medical costs for those with ASD in 2011 were estimated to be 4 to 6 times, ranging from $2,191 to $11,590 per child (4)[B].
    • An estimated lifetime cost of services for an individual with ASD in 2011 is $3.8 million (5)[C].
    • Due to caretaker burden, family earnings are found to be 28% less among families with ASD compared to children without health conditions (6)[C].
COMMONLY ASSOCIATED CONDITIONS
  • Mental retardation, ADHD, anxiety, depression, or obsessive behavior
  • Phenylketonuria (PKU), tuberous sclerosis, fragile X syndrome, Angelman syndrome, and fetal alcohol syndrome (rare)
  • Seizures (increased risk if severe mental retardation)
  • Maternal use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy
image DIAGNOSIS
PHYSICAL EXAM
  • Macrocephaly in 25%; head circumference growth peaks at age 6 months and begins to decline by 1 year.
  • Dysmorphic features consistent with genetic disorder (fragile X syndrome)
  • Hypotonia occurs in autism but should prompt imaging.
  • Wood lamp skin exam to rule out tuberous sclerosis
DIFFERENTIAL DIAGNOSIS
  • Other mental and CNS disorders
  • Obsessive-compulsive disorder
  • Elective mutism
  • Language disorder/hearing impairment
  • Intellectual disability/global developmental delay
  • Stereotyped movement disorder
  • Severe early deprivation/reactive attachment disorder
  • Anxiety disorder
  • Social communication disorder
  • Developmental language disorder
DIAGNOSTIC TESTS & INTERPRETATION
  • Checklist for Autism in Toddlers (CHAT) to screen for ASDs at 18 months of age. (To order: http://www.autism.org.uk/working-with/health/screening-and-diagnosis/checklist-for-autism-in-toddlers-chat.aspx)
  • The Pervasive Developmental Disorders Screening Test-II (PDDST-II) to screen for ASDs beginning at 18 months
  • Modified Checklist for Autism in Toddlers (M-CHAT) to screen for ASDs at 16 to 30 months
  • Social Communication Questionnaire (SCQ) (formerly Autism Screening Questionnaire)—used with children age 4+ years—the gold standard diagnostic interview used in research studies
Initial Tests (lab, imaging)
  • Lead and PKU screening
  • Karyotype and DNA analysis (fragile X, PKU, tuberous sclerosis, and others)
  • Metabolic testing if signs of
    • Lethargy, limited endurance, unusual habits, hypotonia, recurrent vomiting and dehydration, developmental regression, or specific food intolerance
  • MRI is useful only if focal neurologic symptoms.
Follow-Up Tests & Special Considerations
  • Hearing tests: audiometry and brainstem auditory evoked response (BAERS)
  • Comprehensive speech and language evaluation
  • Evaluation by multidisciplinary team: includes a psychiatrist, neurologist, psychologist, speech therapist, and other autism specialists
  • Intellectual level needs to be established and monitored, as it is one of the best measures of prognosis.
  • Test used to follow autism are the following:
    • Autism Behavior Checklist (ABC)
    • Gilliam Autism Rating Scale (GARS)
    • Childhood Autism Rating Scale (CARS)
    • Autism Diagnosis Interview-Revised (ADI-R)
    • Autism Diagnostic Observation Schedule-Generic (ADOS-G) Imaging
Diagnostic Procedures/Other
EEG if history of seizures or spells
image TREATMENT
GENERAL MEASURES
  • Comprehensive structured educational programming of a sustained and intensive design, most commonly applied behavioral analysis therapy
  • Core features of a successful education program
    • High staff-student ratio 1:2, or less
    • Individualized programming
    • Specialized teacher training with ongoing evaluation of teachers and programs
    • 25 hours a week minimum of specialized services
    • A structured routine environment that emphasizes attention, imitation, communication, socialization, and play interactions (7)[C]
    • Functional analysis of behavioral problems
    • Transition planning and involvement of the family
  • Currently no cure for ASDs. Early diagnosis and initiation of multidisciplinary intervention help enhance functioning in later life.
  • Early intensive behavioral intervention (EIBI) involving treatment for 20 to 40 hours per week is a well-established treatments for ASD.
  • School-based special education for older children
  • Some evidence indicates social skill groups can improve social competence for some children and adolescents with ASD.
  • Find alternative methods of communication: sign language; picture exchange communication system
P.101

MEDICATION
  • Autism behavior issues should be managed with maximal behavioral management prior to medication.
  • Medication directed at managing symptoms
First Line
  • No true first-line medical therapy; medications used to treat targeted symptoms
  • Stimulants (such as methylphenidate): Efficacious in treating concomitant symptoms of ADHD such as impulsiveness, hyperactivity, and inattention; however, the magnitude of response is less than in typically developing children and adverse effects are more frequent.
  • SSRIs have limited evidence for autism. It has shown help in reducing ritualistic behavior and improving mood and language skills. Initial choice for anxiety and depressive mood (8)[B]
  • Risperidone has shown short-term efficacy for treatment for irritability, repetitious behaviors, and social withdrawal (9)[B]. Aripiprazole has shown efficacy for treating short-term irritability, hyperactivity, and repetitive movements (10)[B].
  • Melatonin used for patients with concomitant sleep disorders
Second Line
  • Vitamin B6 and magnesium: inconclusive evidence in improving behavior, speech, and language of children with ASD (11)[C]
  • Tricyclic antidepressants have limited and conflicting evidence of effect (12)[B].
ISSUES FOR REFERRAL
  • Refer early to
    • Early learning for evaluation of behavior and language, genetic counseling, and audiology
  • Consider referrals to psychiatry, ophthalmology, otolaryngology, neurology, and nutrition (13).
  • Refer family members to parent support groups and respite programs.
COMPLEMENTARY & ALTERNATIVE MEDICINE
  • Parent-mediated early intervention for young children with autism spectrum has sufficient evidence of benefit in child outcomes related to language understanding and severity of autism characteristics (14)[A].
  • Music therapy has been shown to improve communication skills in autistic patients; however, more research is needed (15)[C].
  • “Theory of mind,” or related skills, can be taught to ASD patients, but further research is needed (16)[C].
  • No evidence to support use of auditory integration therapy or other sound therapies as an effective treatment for ASD (17)[B].
  • No evidence to support acupuncture for treatment of ASD (6)[C].
  • IV secretin and pharmaceutical chelation has shown no evidence of efficacy and is not currently recommended as a treatment for ASD (18,19)[C].
image ONGOING CARE
FOLLOW-UP RECOMMENDATIONS
Patient Monitoring
  • Constant monitoring by caregivers
  • Reevaluation every 6 to 12 months by physician for seizures, sleep and nutritional problems, and prescribed medical management
  • Intellectual and language testing every 2 years in childhood
DIET
  • Gluten- and casein-free diets: Current evidence for efficacy is poor (20)[C].
  • Omega-3 fatty acids supplementation has not been found to improve outcomes (21)[C].
PROGNOSIS
  • Beginning treatment at a young age (2 to 4 years) results in better outcomes.
  • Prognosis is closely related to initial intellectual abilities, with only 20% functioning above the mentally retarded level.
  • Communicative language development before 5 years is also associated with a better outcome.
  • The general expected course is for a lifelong need for supervised structured care.
REFERENCES
1. Autism and Developmental Disabilities Monitoring Network Surveillance Year 2008 Principal Investigators; Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders— Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. 2012;61(3):1-19.
2. Blumberg SJ, Bramlett MD, Kogan MD, et al. Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011-2012. Natl Health Stat Report. 2013;(65):1-11.
3. Demicheli V, Rivetti A, Debalini MG, et al. Vaccines for measles, mumps and rubella in children. Cochrane Database Syst Rev. 2012;(2):CD004407.
4. Lavelle TA, Weinstein MC, Newhouse JP, et al. Economic burden of childhood autism spectrum disorders. Pediatrics. 2014;133(3):e520-e529.
5. Ganz ML. The lifetime distribution of the incremental societal costs of autism. Arch Pediatr Adolesc Med. 2007;161(4):343-349.
6. Cidav Z, Marcus SC, Mandell DS. Implications of childhood autism for parental employment and earnings. Pediatrics. 2012;129(4):617-623.
7. Cheuk DK, Wong V, Chen WX. Acupuncture for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2011;(9):CD007849.
8. Williams K, Brignell A, Randall M, et al. Selective serotonin reuptake inhibitors (SSRIs) for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2013;(8):CD004677.
9. Jesner OS, Aref-Adib M, Coren E. Risperidone for autism spectrum disorder. Cochrane Database Syst Rev. 2007;(1):CD005040.
10. Ching H, Pringsheim T. Aripiprazole for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(5):CD009043.
11. Nye C, Brice A. Combined vitamin B6-magnesium treatment in autism spectrum disorder. Cochrane Database Syst Rev. 2005;(4):CD003497.
12. Hurwitz R, Blackmore R, Hazell P, et al. Tricyclic antidepressants for autism spectrum disorders (ASD) in children and adolescents. Cochrane Database Syst Rev. 2012;(3):CD008372.
13. Reichow B, Steiner AM, Volkmar F. Social skills groups for people aged 6 to 21 with autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(7):CD008511.
14. Oono IP, Honey EJ, McConachie H. Parent-mediated early intervention for young children with autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2013;(4):CD009774.
15. Geretsegger M, Elefant C, Mössler KA, et al. Music therapy for people with autism spectrum disorder. Cochrane Database Syst Rev. 2014;(6):CD004381.
16. Fletcher-Watson S, McConnell F, Manola E, et al. Interventions based on the Theory of Mind cognitive model for autism spectrum disorder (ASD). Cochrane Database Syst Rev. 2014;(3):CD008785.
17. Sinha Y, Silove N, Hayen A, et al. Auditory integration training and other sound therapies for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2011;(12):CD003681.
18. Williams K, Wray JA, Wheeler DM. Intravenous secretin for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(4):CD003495.
19. James S, Stevenson SW, Silove N, et al. Chelation for autism spectrum disorder (ASD). Cochrane Database of Syst Rev. 2015;(5):CD010766.
20. Millward C, Ferriter M, Calver S, et al. Gluten- and casein-free diets for autistic spectrum disorder. Cochrane Database Syst Rev. 2008;(2):CD003498.
21. James S, Montgomery P, Williams K. Omega-3 fatty acids supplementation for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2011;(11):CD007992.
Additional Reading
  • Reichow B, Barton EE, Boyd BA, et al. Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(10):CD009260.
  • Vriend JL, Corkum PV, Moon EC, et al. Behavioral interventions for sleep problems in children with autism spectrum disorders: current findings and future directions. J Pediatr Psychol. 2011;36(9):1017-1029.
See Also
Algorithm: Intellectual Disability
Codes
ICD10
  • F84.0 Autistic disorder
  • F84.5 Asperger's syndrome
  • F84.3 Other childhood disintegrative disorder
Clinical Pearls
  • ALARM mnemonic from the American Academy of Pediatrics (AAP)
  • ASD is prevalent (screen ALL children between 18 and 24 months).
  • Listen to parents when they feel something is wrong.
  • Act early: Screen all children who fall behind in language and social developmental milestones (use early learning to help with evaluation).
  • Refer to multidisciplinary teams (speech and language evaluation, genetic screening, social support groups).
  • Monitor support for patient and families.