Evaluating for Developmental Delay Jimmy Treadway MD.

Evaluating for Developmental Evaluating for Developmental DelayDelay

Jimmy Treadway MDJimmy Treadway MD

IntroductionIntroduction

An estimated 12-16% of children have a An estimated 12-16% of children have a developmental and/or behavior disorderdevelopmental and/or behavior disorder

Only 30% are identified before school entranceOnly 30% are identified before school entrance Those detected after school entrance miss out Those detected after school entrance miss out

on early intervention services proven to have on early intervention services proven to have long term health benefitslong term health benefits

Pediatricians are the primary professional with Pediatricians are the primary professional with whom families have contact during a child’s whom families have contact during a child’s first five years of lifefirst five years of life

Early identification by primary care providers Early identification by primary care providers of developmental delays leads to early referral of developmental delays leads to early referral for evaluation and treatmentfor evaluation and treatment


The Individuals With Disabilities The Individuals With Disabilities Education Act (IDEA) Amendments of Education Act (IDEA) Amendments of 19971997 mandates early identification and mandates early identification and intervention for developmental intervention for developmental disabilities and requires clinicians to refer disabilities and requires clinicians to refer children with suspected developmental children with suspected developmental delays to the appropriate early delays to the appropriate early intervention system in a timely mannerintervention system in a timely manner

An established diagnosis of development An established diagnosis of development disability is not necessary for referral to disability is not necessary for referral to early intervention programs early intervention programs


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


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

Surveillance and Surveillance and ScreeningScreening

In any patient population, there are In any patient population, there are children with normal development, children with normal development, children with obvious abnormal children with obvious abnormal development and those in betweendevelopment and those in between

Pediatricians are in unique position to Pediatricians are in unique position to provide surveillance and screening due provide surveillance and screening due to their routine contact with children and to their routine contact with children and their familiestheir families

The American Academy of Pediatrics The American Academy of Pediatrics (AAP) recommends all infants and young (AAP) recommends all infants and young children have surveillance/screening for children have surveillance/screening for developmental delaysdevelopmental delays


Surveillance—the identification of risk Surveillance—the identification of risk factors for DD factors for DD – Should be performed at all well child visitsShould be performed at all well child visits

Includes:Includes:– Attending to parental concernsAttending to parental concerns– Obtaining relevant developmental historyObtaining relevant developmental history– Making accurate observations of the childMaking accurate observations of the child– Sharing concerns with other professionalsSharing concerns with other professionals– Maintaining record of findingsMaintaining record of findings– Provides the context for screening testsProvides the context for screening tests


Evidence based surveillance Evidence based surveillance – Psychosocial risks can be evaluated with Psychosocial risks can be evaluated with

measures such as the Family Psychosocial measures such as the Family Psychosocial Screen (FPS)Screen (FPS)

~15 minutes~15 minutes ≥≥4 risk factors are associated with DD4 risk factors are associated with DD

– Parental Concerns can be evaluated with Parental Concerns can be evaluated with measures such as the Parents’ Evaluation of measures such as the Parents’ Evaluation of Developmental Status (PEDS)Developmental Status (PEDS)

10 questions, ~2minutes10 questions, ~2minutes Scores indicate if a child is at high, moderate, or Scores indicate if a child is at high, moderate, or

low risk for DDlow risk for DD


Medical EvaluationMedical Evaluation– Presence of biologic risks or medical problems Presence of biologic risks or medical problems

associated with DDassociated with DD– Head circumferenceHead circumference for micro/macrocephaly for micro/macrocephaly– Weight and heightWeight and height for growth deficiency for growth deficiency– DysmorphologyDysmorphology (minor and major congenital (minor and major congenital

abnormalities) abnormalities) – Eye examEye exam for poor tracking, strabismus, etc for poor tracking, strabismus, etc– Ear examEar exam for recurrent/chronic OM for recurrent/chronic OM– AbdomenAbdomen for HSM (metabolic disease) for HSM (metabolic disease)– SkinSkin for neurocutaneous lesions for neurocutaneous lesions – Neurologic examNeurologic exam for reflexes, tone, symmetry, for reflexes, tone, symmetry,

strengthstrength


Screening—brief, formal, standardized Screening—brief, formal, standardized evaluation for early identification of evaluation for early identification of deviations from normal developmentdeviations from normal development– Determines if additional investigation Determines if additional investigation

warrantedwarranted– Not diagnosticNot diagnostic– Screening should have established Screening should have established

psychometric qualities (precision, accuracy, psychometric qualities (precision, accuracy, etc.)etc.)

– Easy to perform and interpret, inexpensive, Easy to perform and interpret, inexpensive, and acceptable to child/parentsand acceptable to child/parents


AAP recommends AAP recommends formal formal screening at 9, 18, and 24 or screening at 9, 18, and 24 or 30 months, and if concerns 30 months, and if concerns raised by parent/physician raised by parent/physician during routine surveillanceduring routine surveillance

AAP also recommends AAP also recommends all 18 all 18 month olds be screened with month olds be screened with an autism-specific toolan autism-specific tool


Screening Tests:Screening Tests:– Parents’ Evaluation of Developmental Parents’ Evaluation of Developmental

Status (PEDS)Status (PEDS)– Ages and Stages Questionnaires (ASQ)Ages and Stages Questionnaires (ASQ)

~15 minutes, by the parent~15 minutes, by the parent Generates a pass/fail score in four development Generates a pass/fail score in four development

domainsdomains

– Infant-Toddler Checklist for Language Infant-Toddler Checklist for Language and Communicationand Communication

~5-10 minutes, by the parent~5-10 minutes, by the parent Identifies scores 1.25 SD below normalIdentifies scores 1.25 SD below normal

– Brigance Screens-IIBrigance Screens-II


Screening TestsScreening Tests– Bayley Infant Neurodevelopmental Screener Bayley Infant Neurodevelopmental Screener

TestTest Direct examinationDirect examination Scores identify high, moderate, and low risk for Scores identify high, moderate, and low risk for

DDDD

– Denver Developmental Screening Test-II Denver Developmental Screening Test-II (DDST-II)(DDST-II)

Direst examinationDirest examination Identifies risk category: normal, questionable, Identifies risk category: normal, questionable,

abnormalabnormal


Screening Tests (Behavioral)Screening Tests (Behavioral)– Children with undetected DD often present Children with undetected DD often present

with behavioral issueswith behavioral issues– Eyberg Child Behavior Inventory/Sutter-Eyberg Eyberg Child Behavior Inventory/Sutter-Eyberg

Student Behavior InventoryStudent Behavior Inventory– Pediatric Symptom Checklist (PSC)Pediatric Symptom Checklist (PSC)– Parents’ Evaluation of Developmental Status (PEDS)Parents’ Evaluation of Developmental Status (PEDS)– Ages and Stages Questionnaires: Social Emotional Ages and Stages Questionnaires: Social Emotional

(ASQ:SE)(ASQ:SE)– Brief Infant-Toddler Social-Emotional Assessment Brief Infant-Toddler Social-Emotional Assessment

(BITSEA)(BITSEA)– Conners Rating Scale-Revised Long Form (CRS-R)Conners Rating Scale-Revised Long Form (CRS-R)– Modified Checklist for Autism in Toddlers (M-CHAT)Modified Checklist for Autism in Toddlers (M-CHAT)– Vanderbilt ADHD Parent Rating Scale (VADPRS)Vanderbilt ADHD Parent Rating Scale (VADPRS)


Outcomes of screeningOutcomes of screening– Normal development and few psychosocial Normal development and few psychosocial

risks—continue routine carerisks—continue routine care– Low-Average development and psychosocial Low-Average development and psychosocial

risks , but pass screening—close risks , but pass screening—close surveillancesurveillance

– Failing a screening test—these children Failing a screening test—these children need additional assessment/evaluationneed additional assessment/evaluation

Referral for diagnostic evaluation/early Referral for diagnostic evaluation/early intervention servicesintervention services

Results of parent-completed tool are adequate Results of parent-completed tool are adequate for referralfor referral

Evaluation and DiagnosisEvaluation and Diagnosis

Developmental interventionDevelopmental intervention Children 0-36 months—agencies (usually Children 0-36 months—agencies (usually

state run, i.e. Early Steps) determine if state run, i.e. Early Steps) determine if children with suspected/diagnosed DD children with suspected/diagnosed DD qualify for servicesqualify for services

– MultidisciplinaryMultidisciplinary– Speech and Language PathologistSpeech and Language Pathologist– Occupational and Physical TherapyOccupational and Physical Therapy– Social WorkerSocial Worker– Psychological evaluation if neededPsychological evaluation if needed– Focus on need for services rather than Focus on need for services rather than

diagnosisdiagnosis


Developmental interventionDevelopmental intervention– Children 3-5 years—preschool special Children 3-5 years—preschool special

education services are available (i.e. education services are available (i.e. Headstart)Headstart)

Continued services—may be in or out of Continued services—may be in or out of classroomclassroom

– Children older than 5 years—referrals Children older than 5 years—referrals usually made through public school usually made through public school systemsystem

– Private evaluations/services are also Private evaluations/services are also availableavailable


Children who fail developmental Children who fail developmental screening may need further medical screening may need further medical evaluationevaluation– Evaluation for iron deficiency anemiaEvaluation for iron deficiency anemia– Evaluation for lead poisoning (if risk factors Evaluation for lead poisoning (if risk factors

for lead poisoning present)for lead poisoning present)– Formal hearing testing (BAER)Formal hearing testing (BAER)– Vision testing (full ophthalmologic exam)Vision testing (full ophthalmologic exam)– Thyroid function testing (if no NBS, or signs of Thyroid function testing (if no NBS, or signs of

thyroid disease)thyroid disease)– Metabolic screening (if abnormal or no NBS)Metabolic screening (if abnormal or no NBS)– Neuroimaging (MRI vs CT)Neuroimaging (MRI vs CT)


Children who fail developmental Children who fail developmental screening may need further medical screening may need further medical evaluationevaluation– Chromosomal/Cytogenetic Testing (if +family Chromosomal/Cytogenetic Testing (if +family

history) history) Down Syndrome (karyotype), Fragile X (FMR1), Rett Down Syndrome (karyotype), Fragile X (FMR1), Rett

Syndrome(MECP2), Prader-Willi/Angelman (FISH)Syndrome(MECP2), Prader-Willi/Angelman (FISH)

– EEG if suspected seizure EEG if suspected seizure activity/encephalopathy (Landau-Kleffner)activity/encephalopathy (Landau-Kleffner)

– CPK/Aldolase if abnormal muscle tone CPK/Aldolase if abnormal muscle tone (Muscular dystrophy)(Muscular dystrophy)

Other diagnosesOther diagnoses

MentalMental Retardation (MR)Retardation (MR)—a state of —a state of functioning beginning in childhood functioning beginning in childhood characterized by limitations in intelligence and characterized by limitations in intelligence and adaptive skillsadaptive skills

DSM-IV Criteria for MR:DSM-IV Criteria for MR:– Significant sub-average intellectual functioning Significant sub-average intellectual functioning – Adaptive functioning deficit or impairmentAdaptive functioning deficit or impairment– Onset before 18 years of ageOnset before 18 years of age

Cognitive impairment requires IQ testing Cognitive impairment requires IQ testing (accurate for ages (accurate for ages ≥5 years)≥5 years)– Mild—50 to 70 IQ ( 70 is 2 SD from normal—100)Mild—50 to 70 IQ ( 70 is 2 SD from normal—100)– Moderate—40 to 50Moderate—40 to 50– Severe—20 to 40Severe—20 to 40– Profound—<20 Profound—<20


Adaptive skills—skills of daily living needed to Adaptive skills—skills of daily living needed to live, work, and play in the communitylive, work, and play in the community– Communication, social skills, self-care, home living, Communication, social skills, self-care, home living,

reading, writing, mathematics, work, leisure, health reading, writing, mathematics, work, leisure, health and safetyand safety

– Considered impaired when there is a deficit in two or Considered impaired when there is a deficit in two or more areasmore areas

American Association on Mental Retardation American Association on Mental Retardation (AAMR) also has a similar definition of MR, but (AAMR) also has a similar definition of MR, but also describes supports needed (intermittent, also describes supports needed (intermittent, limited, extensive, or pervasive)limited, extensive, or pervasive)

The terms GDD and MR are not The terms GDD and MR are not interchangeableinterchangeable


Prevalence of MR in general population Prevalence of MR in general population is 1-3%is 1-3%

Intellectual testingIntellectual testing– Weschler Preschool and Primary Scale of Weschler Preschool and Primary Scale of

Intelligence (WPPSI)Intelligence (WPPSI)– Weschler Intelligence Scales for Children Weschler Intelligence Scales for Children

(WISC-III)(WISC-III)– Stanford-Binet Intelligence ScaleStanford-Binet Intelligence Scale– Kaufman Assessment Battery for ChildrenKaufman Assessment Battery for Children– McCarthy Scales of Children’s AbilitiesMcCarthy Scales of Children’s Abilities– Differential Ability ScalesDifferential Ability Scales– Leiter International Performance ScalesLeiter International Performance Scales


Adaptive TestingAdaptive Testing– Vineland Adaptive Behavior ScalesVineland Adaptive Behavior Scales– AAMR Adaptive Behavior ScalesAAMR Adaptive Behavior Scales– Woodcock-Johnson Scales of Woodcock-Johnson Scales of

Independent BehaviorIndependent Behavior

Other diagnoses Other diagnoses

Prognosis for MR—dependent on Prognosis for MR—dependent on severity:severity:– MildMild—can be taught to read/write, live —can be taught to read/write, live

independently and hold jobs as adultsindependently and hold jobs as adults– ModerateModerate—probably will not learn to —probably will not learn to

read/write, but may live/work in semi-read/write, but may live/work in semi-independent supervised settingsindependent supervised settings

– Severe/profoundSevere/profound—require substantial —require substantial lifelong supportlifelong support

– Also dependent on etiology of MR and co-Also dependent on etiology of MR and co-morbid conditionsmorbid conditions


Autism Spectrum Autism Spectrum Disorders (ASD)Disorders (ASD)– Neurodevelopmental Neurodevelopmental

disorders disorders characterized by characterized by impairments in three impairments in three domains: domains:

• SocializationSocialization • CommunicationCommunication • BehaviorBehavior

Includes:Includes:– Autistic disorderAutistic disorder– Asperger Asperger

disorderdisorder– Rhett’s disorderRhett’s disorder– Childhood Childhood

Disintegrating Disintegrating disorderdisorder

– Pervasive Pervasive developmental developmental disorder, not disorder, not otherwise otherwise specified (PDD-specified (PDD-NOS)NOS)


Autism Spectrum Disorders Autism Spectrum Disorders – Occurs in ~1 in 150 to 1 in 500 childrenOccurs in ~1 in 150 to 1 in 500 children– Increasing incidence since 1970s—due Increasing incidence since 1970s—due

to increased awareness/changes in case to increased awareness/changes in case definitiondefinition

– MR /seizures commonMR /seizures common– Pathogenesis incompletely understoodPathogenesis incompletely understood– Overwhelming evidence does not Overwhelming evidence does not

support association with immunizations support association with immunizations and autismand autism


Autistic disorder—DSM-IV Criteria:Autistic disorder—DSM-IV Criteria: A total of six (or more) items from (1), (2), and A total of six (or more) items from (1), (2), and

(3), with at least two from (1), and one each from (3), with at least two from (1), and one each from (2) and (3): (2) and (3):

1.1. Qualitative impairment in social interaction, as Qualitative impairment in social interaction, as manifested by at least two of the following: manifested by at least two of the following:

Marked impairment in the use of multiple nonverbal Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social body postures, and gestures to regulate social interactioninteraction

Failure to develop peer relationships appropriate to Failure to develop peer relationships appropriate to developmental leveldevelopmental level

A lack of spontaneous seeking to share enjoyment, A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (eg, by a interests, or achievements with other people (eg, by a lack of showing, bringing, or pointing out objects of lack of showing, bringing, or pointing out objects of interest)interest)

Lack of social or emotional reciprocityLack of social or emotional reciprocity


2.2. Qualitative impairments in communication as Qualitative impairments in communication as manifested by at least one of the following: manifested by at least one of the following:

Delay in, or total lack of, the development of spoken Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to language (not accompanied by an attempt to compensate through alternative modes of compensate through alternative modes of communication such as gesture or mime)communication such as gesture or mime)

In individuals with adequate speech, marked In individuals with adequate speech, marked impairment in the ability to initiate or sustain a impairment in the ability to initiate or sustain a conversation with othersconversation with others

Stereotyped and repetitive use of language or Stereotyped and repetitive use of language or idiosyncratic languageidiosyncratic language

Lack of varied, spontaneous make-believe play or Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental social imitative play appropriate to developmental levellevel


3.3. Restricted repetitive and stereotyped patterns Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as of behavior, interests, and activities, as manifested by manifested by at least one of the following: at least one of the following:

Encompassing preoccupation with one or more Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is stereotyped and restricted patterns of interest that is abnormal either in intensity or focusabnormal either in intensity or focus

Apparently inflexible adherence to specific, Apparently inflexible adherence to specific, nonfunctional routines or ritualsnonfunctional routines or rituals

Stereotyped and repetitive motor mannerisms (eg, Stereotyped and repetitive motor mannerisms (eg, hand or finger flapping or twisting, or complex whole-hand or finger flapping or twisting, or complex whole-body movements)body movements)

Persistent preoccupation with parts of objectsPersistent preoccupation with parts of objects


Delays or abnormal functioning in Delays or abnormal functioning in at least one of the following areas, at least one of the following areas, with onset before 3 years old: (1) with onset before 3 years old: (1) social interaction, (2) language as social interaction, (2) language as used in social communication, or used in social communication, or (3) symbolic or imaginative play.(3) symbolic or imaginative play.

The disturbance is not better The disturbance is not better accounted for by Rett's Disorder or accounted for by Rett's Disorder or childhood disintegrative disorder.childhood disintegrative disorder.


Diagnosis of Autism is a clinical oneDiagnosis of Autism is a clinical one– Use DSM-IV CriteriaUse DSM-IV Criteria– Sometimes referral to ASD specialists for Sometimes referral to ASD specialists for

definitive diagnosisdefinitive diagnosis Diagnostic tools available:Diagnostic tools available:

– Autism Behavior Checklist (ABC)Autism Behavior Checklist (ABC)– Gilliam Autism Rating Scale (GARS)Gilliam Autism Rating Scale (GARS)– Autism Diagnostic Interview-Revised (ADI-R)Autism Diagnostic Interview-Revised (ADI-R)– Childhood Autism Rating Scales (CARS)Childhood Autism Rating Scales (CARS)– Autism Diagnostic Observation Schedule-Autism Diagnostic Observation Schedule-

Generic (ADOS-G)Generic (ADOS-G)


AspergerAsperger disorderdisorder—similar to autism—similar to autism– No clinical significant delays in languageNo clinical significant delays in language– Higher levels of cognitive functionHigher levels of cognitive function– Greater interest in interpersonal social Greater interest in interpersonal social

activityactivity– Specific DSM-IV Criteria for diagnosisSpecific DSM-IV Criteria for diagnosis

PDD-NOSPDD-NOS—used for individuals with —used for individuals with some, but not all, of the DSM-IV some, but not all, of the DSM-IV criteria for autistic disordercriteria for autistic disorder


Rhett SyndromeRhett Syndrome– Almost exclusively femalesAlmost exclusively females– Develop normally initially, then gradually Develop normally initially, then gradually

loose speech, purposeful hand use after loose speech, purposeful hand use after 18 months of age18 months of age

– Deceleration in head growthDeceleration in head growth– Mutations in MECP2 geneMutations in MECP2 gene

Childhood disintegrating disorderChildhood disintegrating disorder– Regression in multiple areas of functioning Regression in multiple areas of functioning

after two years of normal developmentafter two years of normal development

ReferencesReferences

American Academy of Pediatrics, Committee on Children with Disabilities: American Academy of Pediatrics, Committee on Children with Disabilities: Developmental Surveillance and Screening of Infants and Young Children. Developmental Surveillance and Screening of Infants and Young Children. Pediatrics 2001; Vol 108: No.1: pp192-195.Pediatrics 2001; Vol 108: No.1: pp192-195.

American Academy of Pediatrics , Committee on Children with Disabilities : American Academy of Pediatrics , Committee on Children with Disabilities : Identification and Evaluation of Children with Autism Spectrum Disorders. Identification and Evaluation of Children with Autism Spectrum Disorders. Pediatrics 2007; Vol 120: No.5: pp1183-1215.Pediatrics 2007; Vol 120: No.5: pp1183-1215.

Augustyn M., Clinical features of autism spectrum disorders. Augustyn M., Clinical features of autism spectrum disorders. www.uptodate.comwww.uptodate.com..Augustyn M., Diagnosis of autism spectrum disorders. Augustyn M., Diagnosis of autism spectrum disorders. www.uptodate.comwww.uptodate.com..Feldman H., Developmental-Behavioral Pediatrics. Ed. Zitelli B., Atlas of Pediatric Feldman H., Developmental-Behavioral Pediatrics. Ed. Zitelli B., Atlas of Pediatric

Physical Diagnosis. 2002: pp58-86.Physical Diagnosis. 2002: pp58-86.LaRosa A., Glascoe F., Developmental surveillance and screening in primary care LaRosa A., Glascoe F., Developmental surveillance and screening in primary care

www.uptoddate.comwww.uptoddate.com..LaRosa A., Glascoe F., Developmental and behavioral screening tests in primary LaRosa A., Glascoe F., Developmental and behavioral screening tests in primary

care care www.uptoddate.comwww.uptoddate.com..Shevell M, Ashwal S, Donley D, et al. Practice parameter: Evaluation of the child Shevell M, Ashwal S, Donley D, et al. Practice parameter: Evaluation of the child

with global developmental delay—report of the Quality Standards Subcommittee with global developmental delay—report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology Society. Neurology.Neurology. 2003;60 :367 –380. 2003;60 :367 –380.

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Evaluating for Developmental Delay Jimmy Treadway MD.

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