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Autism Spectrum Disorders

- Impairment in social interaction - Impairment in nonverbal behaviors such as eye-to-eye gaze, facial expression - Unable to develop peer relationships - Does not smile nor share emotions - Loss of social or emotional reciprocity

- Communication impairment - Delay or lack of development in language skills - Inability to initiate or sustain conversation - Stereotyped and repetitive use of language - Preoccupation with parts of toys or body parts

- Repetitive and stereotyped patterns of behavior - Excessively lines up toys or other objects - Unusually attached to one particular toy or object - Repetitive odd movements (toe walking, hand flapping) - Adherence to specific routines or rituals

- 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

para>Symptom onset seen in children <3 years of age (except for childhood disintegrative disorder) ГЎ

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% ГЎ

GENERAL PREVENTION

  • Early screening for early treatment means a better prognosis.
  • Some ASDs are caused by genetic or chromosomal disorders.
  • Economic costsAn 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

DIAGNOSIS

HISTORY

  • Impairment in social interactionImpairment in nonverbal behaviors such as eye-to-eye gaze, facial expressionUnable to develop peer relationshipsDoes not smile nor share emotionsLoss of social or emotional reciprocity
  • Communication impairmentDelay or lack of development in language skillsInability to initiate or sustain conversationStereotyped and repetitive use of languagePreoccupation with parts of toys or body parts
  • Repetitive and stereotyped patterns of behaviorExcessively lines up toys or other objectsUnusually attached to one particular toy or objectRepetitive odd movements (toe walking, hand flapping)Adherence to specific routines or rituals
  • Prenatal, neonatal, and developmental history
  • Seizure disorder
  • Family history of autism, genetic disorders, learning disabilities, psychiatric illness, neurologic disorders, genetic disorders, or mental retardation
  • Commonly associated with sleep disorders

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 ofLethargy, 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 ГЎ

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 programHigh staff-student ratio 1:2, or lessIndividualized programmingSpecialized teacher training with ongoing evaluation of teachers and programs25 hours a week minimum of specialized servicesA structured routine environment that emphasizes attention, imitation, communication, socialization, and play interactions (7)[C]Functional analysis of behavioral problemsTransition 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

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 toEarly 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,"ЕЃ 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].

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.

COMPLICATIONS

  • Increasing incidents of seizure disorders in up to 1 in 4 children
  • Increased risk for physical and sexual abuse
  • With pica, increased risk of lead poisoning
  • Limited variety of food consumed due to dietary obsessions
  • Increased risk for GI symptoms, including weight abnormalities and abnormal stool patterns

REFERENCES

11 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):1-19.22 Blumberg ГЎSJ, Bramlett ГЎMD, Kogan ГЎMD, 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):1-11.33 Demicheli ГЎV, Rivetti ГЎA, Debalini ГЎMG, et al. Vaccines for measles, mumps and rubella in children. Cochrane Database Syst Rev. 2012;(2):CD004407.44 Lavelle ГЎTA, Weinstein ГЎMC, Newhouse ГЎJP, et al. Economic burden of childhood autism spectrum disorders. Pediatrics. 2014;133(3):e520-e529.55 Ganz ГЎML. The lifetime distribution of the incremental societal costs of autism. Arch Pediatr Adolesc Med. 2007;161(4):343-349.66 Cidav ГЎZ, Marcus ГЎSC, Mandell ГЎDS. Implications of childhood autism for parental employment and earnings. Pediatrics. 2012;129 (4):617-623.77 Cheuk ГЎDK, Wong ГЎV, Chen ГЎWX. Acupuncture for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2011;(9):CD007849.88 Williams ГЎK, Brignell ГЎA, Randall ГЎM, et al. Selective serotonin reuptake inhibitors (SSRIs) for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2013;(8):CD004677.99 Jesner ГЎOS, Aref-Adib ГЎM, Coren ГЎE. Risperidone for autism spectrum disorder. Cochrane Database Syst Rev. 2007;(1):CD005040.1010 Ching ГЎH, Pringsheim ГЎT. Aripiprazole for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(5):CD009043.1111 Nye ГЎC, Brice ГЎA. Combined vitamin B6-magnesium treatment in autism spectrum disorder. Cochrane Database Syst Rev. 2005;(4):CD003497.1212 Hurwitz ГЎR, Blackmore ГЎR, Hazell ГЎP, et al. Tricyclic antidepressants for autism spectrum disorders (ASD) in children and adolescents. Cochrane Database Syst Rev. 2012;(3):CD008372.1313 Reichow ГЎB, Steiner ГЎAM, Volkmar ГЎF. Social skills groups for people aged 6 to 21 with autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(7):CD008511.1414 Oono ГЎIP, Honey ГЎEJ, McConachie ГЎH. Parent-mediated early intervention for young children with autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2013;(4):CD009774.1515 Geretsegger ГЎM, Elefant ГЎC, M Г‚ssler ГЎKA, et al. Music therapy for people with autism spectrum disorder. Cochrane Database Syst Rev. 2014;(6):CD004381.1616 Fletcher-Watson ГЎS, McConnell ГЎF, Manola ГЎE, et al. Interventions based on the Theory of Mind cognitive model for autism spectrum disorder (ASD). Cochrane Database Syst Rev. 2014;(3):CD008785.1717 Sinha ГЎY, Silove ГЎN, Hayen ГЎA, et al. Auditory integration training and other sound therapies for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2011;(12):CD003681.1818 Williams ГЎK, Wray ГЎJA, Wheeler ГЎDM. Intravenous secretin for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(4):CD003495.1919 James ГЎS, Stevenson ГЎSW, Silove ГЎN, et al. Chelation for autism spectrum disorder (ASD). Cochrane Database of Syst Rev. 2015;(5):CD010766.2020 Millward ГЎC, Ferriter ГЎM, Calver ГЎS, et al. Gluten- and casein-free diets for autistic spectrum disorder. Cochrane Database Syst Rev. 2008;(2):CD003498.2121 James ГЎS, Montgomery ГЎP, Williams ГЎK. Omega-3 fatty acids supplementation for autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2011;(11):CD007992.

ADDITIONAL READING

  • Reichow ГЎB, Barton ГЎEE, Boyd ГЎBA, et al. Early intensive behavioral intervention (EIBI) for young children with autism spectrum disorders (ASD). Cochrane Database Syst Rev. 2012;(10):CD009260.
  • Vriend ГЎJL, Corkum ГЎPV, Moon ГЎEC, 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 ГЎ

CODES

ICD10

  • F84.0 Autistic disorder
  • F84.5 Asperger's syndrome
  • F84.3 Other childhood disintegrative disorder
  • F84.9 Pervasive developmental disorder, unspecified
  • F84.8 Other pervasive developmental disorders

ICD9

  • 299.00 Autistic disorder, current or active state
  • 299.80 Other specified pervasive developmental disorders, current or active state
  • 299.10 Childhood disintegrative disorder, current or active state
  • 299.90 Unspecified pervasive developmental disorder, current or active state
  • 299.91 Unspecified pervasive developmental disorder, residual state
  • 299.01 Autistic disorder, residual state
  • 299.81 Other specified pervasive developmental disorders, residual state
  • 299.11 Childhood disintegrative disorder, residual state
  • 299.81 Other specified pervasive developmental disorders, residual state

SNOMED

  • 408856003 autistic disorder (disorder)
  • 23560001 Asperger's disorder (disorder)
  • 71961003 Childhood disintegrative disorder
  • 35919005 pervasive developmental disorder (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.