Developmental Delay and Autism

Evaluating for Developmental Delay

Jimmy Treadway MD

IntroductionAn estimated 12-16% of children have a developmental and/or behavior disorderOnly 30% are identified before school entranceThose detected after school entrance miss out on early intervention services proven to have long term health benefitsPediatricians are the primary professional with whom families have contact during a childs first five years of lifeEarly identification by primary care providers of developmental delays leads to early referral for evaluation and treatment

IntroductionThe Individuals With Disabilities Education Act (IDEA) Amendments of 1997 mandates early identification and intervention for developmental disabilities and requires clinicians to refer children with suspected developmental delays to the appropriate early intervention system in a timely manner An established diagnosis of development disability is not necessary for referral to early intervention programs

IntroductionDevelopmental Disability/Delay (DD) is present when functional aspects of a childs development in one or more domains (gross/fine motor, speech/language, cognition, social/personal, and activities of daily living) are significantly delayed compared to the expected level for age (25% from the expected rate or a discrepancy of 1.5 to 2 standard deviations from the norm)

IntroductionGlobal Developmental Delay (GDD) is a subset of DD defined as significant delay in two or more developmental domains (reserved for children less than 5 years old)

Surveillance and ScreeningIn any patient population, there are children with normal development, children with obvious abnormal development and those in betweenPediatricians are in unique position to provide surveillance and screening due to their routine contact with children and their familiesThe American Academy of Pediatrics (AAP) recommends all infants and young children have surveillance/screening for developmental delays

Surveillance and ScreeningSurveillancethe identification of risk factors for DD Should be performed at all well child visitsIncludes:Attending to parental concernsObtaining relevant developmental historyMaking accurate observations of the childSharing concerns with other professionalsMaintaining record of findingsProvides the context for screening tests

Surveillance and ScreeningEvidence based surveillance Psychosocial risks can be evaluated with measures such as the Family Psychosocial Screen (FPS)~15 minutes4 risk factors are associated with DDParental Concerns can be evaluated with measures such as the Parents Evaluation of Developmental Status (PEDS)10 questions, ~2minutesScores indicate if a child is at high, moderate, or low risk for DD

Surveillance and ScreeningMedical EvaluationPresence of biologic risks or medical problems associated with DDHead circumference for micro/macrocephalyWeight and height for growth deficiencyDysmorphology (minor and major congenital abnormalities) Eye exam for poor tracking, strabismus, etcEar exam for recurrent/chronic OMAbdomen for HSM (metabolic disease)Skin for neurocutaneous lesions Neurologic exam for reflexes, tone, symmetry, strength

Surveillance and ScreeningScreeningbrief, formal, standardized evaluation for early identification of deviations from normal developmentDetermines if additional investigation warrantedNot diagnosticScreening should have established psychometric qualities (precision, accuracy, etc.)Easy to perform and interpret, inexpensive, and acceptable to child/parents

Surveillance and ScreeningAAP recommends formal screening at 9, 18, and 24 or 30 months, and if concerns raised by parent/physician during routine surveillanceAAP also recommends all 18 month olds be screened with an autism-specific tool

Surveillance and ScreeningScreening Tests:Parents Evaluation of Developmental Status (PEDS)Ages and Stages Questionnaires (ASQ)~15 minutes, by the parentGenerates a pass/fail score in four development domainsInfant-Toddler Checklist for Language and Communication~5-10 minutes, by the parentIdentifies scores 1.25 SD below normalBrigance Screens-II

Surveillance and ScreeningScreening TestsBayley Infant Neurodevelopmental Screener TestDirect examinationScores identify high, moderate, and low risk for DDDenver Developmental Screening Test-II (DDST-II)Direst examinationIdentifies risk category: normal, questionable, abnormal

Surveillance and ScreeningScreening Tests (Behavioral)Children with undetected DD often present with behavioral issuesEyberg Child Behavior Inventory/Sutter-Eyberg Student Behavior InventoryPediatric Symptom Checklist (PSC)Parents Evaluation of Developmental Status (PEDS)Ages and Stages Questionnaires: Social Emotional (ASQ:SE)Brief Infant-Toddler Social-Emotional Assessment (BITSEA)Conners Rating Scale-Revised Long Form (CRS-R)Modified Checklist for Autism in Toddlers (M-CHAT)Vanderbilt ADHD Parent Rating Scale (VADPRS)

Surveillance and ScreeningOutcomes of screeningNormal development and few psychosocial riskscontinue routine careLow-Average development and psychosocial risks , but pass screeningclose surveillanceFailing a screening testthese children need additional assessment/evaluationReferral for diagnostic evaluation/early intervention services Results of parent-completed tool are adequate for referral

Evaluation and DiagnosisDevelopmental interventionChildren 0-36 monthsagencies (usually state run, i.e. Early Steps) determine if children with suspected/diagnosed DD qualify for servicesMultidisciplinarySpeech and Language PathologistOccupational and Physical TherapySocial WorkerPsychological evaluation if neededFocus on need for services rather than diagnosis

Evaluation and DiagnosisDevelopmental interventionChildren 3-5 yearspreschool special education services are available (i.e. Headstart)Continued servicesmay be in or out of classroomChildren older than 5 yearsreferrals usually made through public school systemPrivate evaluations/services are also available

Evaluation and DiagnosisChildren who fail developmental screening may need further medical evaluationEvaluation for iron deficiency anemiaEvaluation for lead poisoning (if risk factors for lead poisoning present)Formal hearing testing (BAER)Vision testing (full ophthalmologic exam)Thyroid function testing (if no NBS, or signs of thyroid disease)Metabolic screening (if abnormal or no NBS)Neuroimaging (MRI vs CT)

Evaluation and DiagnosisChildren who fail developmental screening may need further medical evaluationChromosomal/Cytogenetic Testing (if +family history) Down Syndrome (karyotype), Fragile X (FMR1), Rett Syndrome(MECP2), Prader-Willi/Angelman (FISH)EEG if suspected seizure activity/encephalopathy (Landau-Kleffner)CPK/Aldolase if abnormal muscle tone (Muscular dystrophy)

Other diagnosesAdaptive skillsskills of daily living needed to live, work, and play in the communityCommunication, social skills, self-care, home living, reading, writing, mathematics, work, leisure, health and safetyConsidered impaired when there is a deficit in two or more areasAmerican Association on Mental Retardation (AAMR) also has a similar definition of MR, but also describes supports needed (intermittent, limited, extensive, or pervasive)The terms GDD and MR are not interchangeable

Other diagnosesPrevalence of MR in general population is 1-3%Intellectual testingWeschler Preschool and Primary Scale of Intelligence (WPPSI)Weschler Intelligence Scales for Children (WISC-III)Stanford-Binet Intelligence ScaleKaufman Assessment Battery for ChildrenMcCarthy Scales of Childrens AbilitiesDifferential Ability ScalesLeiter International Performance Scales

Other diagnosesAdaptive TestingVineland Adaptive Behavior ScalesAAMR Adaptive Behavior ScalesWoodcock-Johnson Scales of Independent Behavior

Other diagnoses Prognosis for MRdependent on severity:Mildcan be taught to read/write, live independently and hold jobs as adultsModerateprobably will not learn to read/write, but may live/work in semi-independent supervised settingsSevere/profoundrequire substantial lifelong supportAlso dependent on etiology of MR and co-morbid conditions

Other diagnoses Autism Spectrum Disorders (ASD)Neurodevelopmental disorders characterized by impairments in three domains:

Socialization Communication Behavior

Includes:Autistic disorderAsperger disorderRhetts disorderChildhood Disintegrating disorderPervasive developmental disorder, not otherwise specified (PDD-NOS)

Other diagnoses Autism Spectrum Disorders Occurs in ~1 in 150 to 1 in 500 childrenIncreasing incidence since 1970sdue to increased awareness/changes in case definitionMR /seizures commonPathogenesis incompletely understoodOverwhelming evidence does not support association with immunizations and autism

Other diagnoses Autistic disorderDSM-IV Criteria:A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): Qualitative impairment in social interaction, as manifested by at least two of the following: Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction Failure to develop peer relationships appropriate to developmental level A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (eg, by a lack of showing, bringing, or pointing out objects of interest) Lack of social or emotional reciprocity

Other diagnoses

Qualitative impairments in communication as manifested by at least one of the following: Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others Stereotyped and repetitive use of language or idiosyncratic language Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

Other diagnoses

Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus Apparently inflexible adherence to specific, nonfunctional routines or rituals Stereotyped and repetitive motor mannerisms (eg, hand or finger flapping or twisting, or complex whole-body movements) Persistent preoccupation with parts of objects

Other diagnoses Delays or abnormal functioning in at least one of the following areas, with onset before 3 years old: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play. The disturbance is not better accounted for by Rett's Disorder or childhood disintegrative disorder.

Other diagnoses Diagnosis of Autism is a clinical oneUse DSM-IV CriteriaSometimes referral to ASD specialists for definitive diagnosisDiagnostic tools available:Autism Behavior Checklist (ABC)Gilliam Autism Rating Scale (GARS)Autism Diagnostic Interview-Revised (ADI-R)Childhood Autism Rating Scales (CARS)Autism Diagnostic Observation Schedule-Generic (ADOS-G)

Other diagnoses Asperger disordersimilar to autismNo clinical significant delays in languageHigher levels of cognitive functionGreater interest in interpersonal social activitySpecific DSM-IV Criteria for diagnosisPDD-NOSused for individuals with some, but not all, of the DSM-IV criteria for autistic disorder

Other diagnoses Rhett SyndromeAlmost exclusively femalesDevelop normally initially, then gradually loose speech, purposeful hand use after 18 months of ageDeceleration in head growthMutations in MECP2 geneChildhood disintegrating disorderRegression in multiple areas of functioning after two years of normal development

References

American Academy of Pediatrics, Committee on Children with Disabilities: Developmental Surveillance and Screening of Infants and Young Children. Pediatrics 2001; Vol 108: No.1: pp192-195.American Academy of Pediatrics , Committee on Children with Disabilities : Identification and Evaluation of Children with Autism Spectrum Disorders. Pediatrics 2007; Vol 120: No.5: pp1183-1215.Augustyn M., Clinical features of autism spectrum disorders. www.uptodate.com.Augustyn M., Diagnosis of autism spectrum disorders. www.uptodate.com.Feldman H., Developmental-Behavioral Pediatrics. Ed. Zitelli B., Atlas of Pediatric Physical Diagnosis. 2002: pp58-86.LaRosa A., Glascoe F., Developmental surveillance and screening in primary care www.uptoddate.com.LaRosa A., Glascoe F., Developmental and behavioral screening tests in primary care www.uptoddate.com.Shevell M, Ashwal S, Donley D, et al. Practice parameter: Evaluation of the child with global developmental delayreport of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2003;60 :367 380.