Clinical Evaluation of the Child with Developmental Delay · Clinical Evaluation of the Child with Developmental Delay-State of the Art ... – Vertex/Breech presentation ... Clinical

Clinical Evaluation of theClinical Evaluation of theChild with DevelopmentalChild with DevelopmentalDelayDelay--State of the ArtState of the Art

Michael Shevell MD CM FRCPMichael Shevell MD CM FRCPProfessorProfessorDepartments ofDepartments ofNeurology/NeurosurgeryNeurology/NeurosurgeryMcGill UniversityMcGill UniversityDivision of Pediatric NeurologyDivision of Pediatric NeurologyMontreal ChildrenMontreal Children’’s Hospitals HospitalMontreal, Quebec, CanadaMontreal, Quebec, Canada

Developmental DelayDevelopmental Delay

•• Chronic disordersChronic disorders•• Etiologically heterogeneousEtiologically heterogeneous•• Essential feature a recognized disturbanceEssential feature a recognized disturbance

or delay in one or more developmentalor delay in one or more developmentaldomainsdomains

•• Significant & continuing impact on a childSignificant & continuing impact on a child’’ssdevelopmental/functional progressdevelopmental/functional progress

•• Common pediatric problem affecting 5Common pediatric problem affecting 5--10%10%of the pediatric populationof the pediatric population

•• Recognition based on ongoing process ofRecognition based on ongoing process ofdevelopmental surveillance and possiblydevelopmental surveillance and possiblysystematic screeningsystematic screening

Developmental DelayDevelopmental Delay--SubtypesSubtypes•• Global Developmental Delay*Global Developmental Delay*•• Mental Retardation*Mental Retardation*•• Developmental Language DisordersDevelopmental Language Disorders

(Specific Language Impairment)(Specific Language Impairment)•• Gross Motor DelayGross Motor Delay

–– +/+/-- Cerebral PalsyCerebral Palsy•• Autistic Spectrum DisordersAutistic Spectrum Disorders•• Primary Sensory ImpairmentsPrimary Sensory Impairments

–– VisualVisual–– AuditoryAuditory

•• School RelatedSchool Related–– ADHDADHD–– Learning DisabilityLearning Disability

Global Developmental DelayGlobal Developmental Delay

•• Significant delay in two or moreSignificant delay in two or moredevelopmental domainsdevelopmental domains

–– Usually all domains affectedUsually all domains affected

•• Significant=performance two or moreSignificant=performance two or morestandard deviations below the meanstandard deviations below the meanon age appropriate standardizedon age appropriate standardizednorm referenced testsnorm referenced tests

•• Term usually applied to children lessTerm usually applied to children lessthan 5 years of agethan 5 years of age

•• Later diagnosis of mental retardationLater diagnosis of mental retardationfrequentfrequent

Mental RetardationMental Retardation•• Significant subSignificant sub--average general intellectualaverage general intellectual

functioning existing concurrently with deficitsfunctioning existing concurrently with deficitsin adaptive behaviourin adaptive behaviour

•• Limitations in at least two areas of adaptiveLimitations in at least two areas of adaptivebehaviour that reflect the degree to which anbehaviour that reflect the degree to which anindividual functions effectively within societyindividual functions effectively within society

•• Systems of support required across theSystems of support required across thelifespanlifespan

–– IndividualIndividual–– EducationalEducational–– VocationalVocational–– RecreationalRecreational

•• IQ scores < 70 (IQ normally distributedIQ scores < 70 (IQ normally distributed--meanmean=100, SD=15)=100, SD=15)--used to stratify severity of delayused to stratify severity of delay

•• Term usually applied to children older than 5Term usually applied to children older than 5

Global Developmental DelayGlobal Developmental Delay& Mental Retardation& Mental Retardation•• Related, complementary, nonRelated, complementary, non--synonymoussynonymous

termsterms•• Chronologically framed by what can be reliablyChronologically framed by what can be reliably

observed and measuredobserved and measured–– Many children with GDD will later be diagnosedMany children with GDD will later be diagnosed

as MRas MR–– Many children with MR originally diagnosed asMany children with MR originally diagnosed as

GDDGDD•• Diagnostic labelsDiagnostic labels

–– Clinically recognizable entitiesClinically recognizable entities–– Mandates a particular evaluation, management &Mandates a particular evaluation, management &

intervention approachintervention approach•• Children typically evaluated at less than 5Children typically evaluated at less than 5

years of age when GDD diagnosis moreyears of age when GDD diagnosis moreappropriateappropriate

Evaluation of ChildhoodEvaluation of ChildhoodDevelopmental DelayDevelopmental Delay•• Aims & ObjectivesAims & Objectives

1. Confirm the existence of a delay1. Confirm the existence of a delay2. Categorize and classify precisely the2. Categorize and classify precisely the

developmental delaydevelopmental delay3. Search for a possible underlying3. Search for a possible underlying

responsible etiology*responsible etiology*4. Referral to appropriate rehabilitation4. Referral to appropriate rehabilitation

servicesservices5. Inform & counsel family5. Inform & counsel family6. Manage associated medical/behavioural6. Manage associated medical/behavioural

conditionsconditions–– Spasticity, epilepsy, inattention, feeding, sleepSpasticity, epilepsy, inattention, feeding, sleep

disturbancesdisturbances–– Aggression, stereotypies, obsessions, oppositionAggression, stereotypies, obsessions, opposition–– Actualization of full developmental potentialActualization of full developmental potential

Developmental DelayDevelopmental Delay--Etiologic DeterminationEtiologic Determination

•• Etiology=Etiology=““specific diagnosis that canspecific diagnosis that canbe translated into useful clinicalbe translated into useful clinicalinformation for the family, includinginformation for the family, includingproviding information aboutproviding information aboutprognosis, recurrence risks andprognosis, recurrence risks andpreferred modes of availablepreferred modes of availabletherapytherapy””

•• Usually a question asked andUsually a question asked andanswered only by detailedanswered only by detailedassessmentassessment

Developmental DelayDevelopmental Delay--Etiologic DeterminationEtiologic Determination

•• ImportanceImportance–– Recurrence risks estimationRecurrence risks estimation–– PreventionPrevention–– Specific therapySpecific therapy–– Modify management (associatedModify management (associated

conditions, programmatic approach)conditions, programmatic approach)–– PrognosticationPrognostication–– Family empowermentFamily empowerment–– Limitation of further unnecessary testingLimitation of further unnecessary testing

Elements of EvaluationElements of Evaluation

•• HistoryHistory•• Physical ExaminationPhysical Examination

–– GeneralGeneral–– NeurologicalNeurological–– DevelopmentalDevelopmental

•• Laboratory InvestigationLaboratory Investigation•• ReferralReferral

–– ConsultationsConsultations–– Rehabilitation servicesRehabilitation services

HistoryHistory

•• Comprehensive Family HistoryComprehensive Family History–– Developmental, health, schoolDevelopmental, health, school

attainment status of siblings, parentsattainment status of siblings, parentsand other relativesand other relatives

–– Significant neurological impairmentsSignificant neurological impairments–– CP/GDD/ASD/MR/DLICP/GDD/ASD/MR/DLI–– Epilepsy (convulsive disorders)Epilepsy (convulsive disorders)–– Mental illnessMental illness–– Neuromuscular disordersNeuromuscular disorders

–– Parental consanguinityParental consanguinity–– EthnicityEthnicity

HistoryHistory

•• MotherMother’’s pregnancy/prenatal cares pregnancy/prenatal care–– PV bleedingPV bleeding–– Gestational diabetesGestational diabetes–– PrematurePremature labourlabour–– Medical conditions/medicationsMedical conditions/medications–– Toxin exposureToxin exposure -- alcohol, illicit drugsalcohol, illicit drugs–– Intrauterine infectionsIntrauterine infections–– IUGR/Antenatal anomaliesIUGR/Antenatal anomalies–– Foreign birthForeign birth

HistoryHistory•• Labour/DeliveryLabour/Delivery

–– TimingTiming–– Premature/TermPremature/Term

–– ModeMode–– Vaginal/Forceps/CVaginal/Forceps/C--S (indication)S (indication)–– Vertex/Breech presentationVertex/Breech presentation

–– Meconium /FHR changes/APGAR scores (1 & 5Meconium /FHR changes/APGAR scores (1 & 5minutes & beyond)minutes & beyond)

–– BirthweightBirthweight•• NeonatalNeonatal

–– EncephalopathyEncephalopathy–– Invariably occurs if intraInvariably occurs if intra--partum difficultiespartum difficulties

are of neurologic relevanceare of neurologic relevance–– SeizuresSeizures–– Feeding difficultiesFeeding difficulties–– Associated conditionsAssociated conditions

HistoryHistory•• MedicalMedical

–– Chronic conditions, hospital admissions,Chronic conditions, hospital admissions,surgery, medications, vaccination statussurgery, medications, vaccination status

•• SocialSocial–– SES, marital/custodial status, child careSES, marital/custodial status, child care

arrangementsarrangements•• Special servicesSpecial services

–– RehabilitationRehabilitation–– Social supportsSocial supports

•• Family Centered CareFamily Centered Care–– What are the familyWhat are the family’’s major challenges?s major challenges?–– What shouldWhat should ““wewe”” focus on to providefocus on to provide

greatest benefit?greatest benefit?

HistoryHistory

•• DevelopmentalDevelopmental–– Age of initial concernAge of initial concern–– Domain(s) of concernDomain(s) of concern–– Progression in each domainProgression in each domain–– Current capability in each domainCurrent capability in each domain–– Activities of daily livingActivities of daily living–– Play skillsPlay skills–– Any loss or regression of skills ?Any loss or regression of skills ?

–– Possibility of a neurodegenerative conditionPossibility of a neurodegenerative condition

Physical ExaminationPhysical Examination

•• Fluid & adaptableFluid & adaptable•• Maintain childMaintain child’’s proximity to caregivers proximity to caregiver•• Tell child what to expect even if nonTell child what to expect even if non--

verbalverbal•• Leave intrusive (Leave intrusive (ieie handshands--on) aspects toon) aspects to

endend•• GeneralGeneral--special emphasis on:special emphasis on:

–– Height/WeightHeight/Weight–– DysmorphicDysmorphic features (look at parents!)features (look at parents!)–– HepatosplenomegalyHepatosplenomegaly–– CutaneousCutaneous markers ofmarkers of phakomatosisphakomatosis–– SpineSpine

Physical ExaminationPhysical Examination•• NeurologicalNeurological

–– Head circumferenceHead circumference--OFCOFC–– PercentilePercentile–– Measure parents if <3Measure parents if <3rdrd or > 98or > 98thth

–– Visual/auditory apparatus integrityVisual/auditory apparatus integrity–– Bulbar findingsBulbar findings–– MotorMotor

–– Focal findingsFocal findings–– DyskinesiasDyskinesias–– Dexterity/coDexterity/co--ordination/planningordination/planning–– Strength (Gower sign/up & down stairs)Strength (Gower sign/up & down stairs)

–– GaitGait--walking & runningwalking & running–– BalanceBalance

Physical ExaminationPhysical Examination•• DevelopmentalDevelopmental

–– In the preschool child developmentalIn the preschool child developmentalassessment is the bulk of theassessment is the bulk of the neurologicneurologicexaminationexamination

–– NonNon--invasive & noninvasive & non--intrusiveintrusive–– Observational, detached, nonObservational, detached, non--threateningthreatening–– Appropriate playthingsAppropriate playthings

–– Blocks, crayonBlocks, crayon & paper, balls, simple puzzles,& paper, balls, simple puzzles,stuffed animals/dolls etcstuffed animals/dolls etc

–– Supplemented by formal developmentalSupplemented by formal developmentalassessmentassessment–– Office basedOffice based–– OT/PT/SLP/Psychology assessmentsOT/PT/SLP/Psychology assessments

Physical ExaminationPhysical Examination

•• DevelopmentalDevelopmental–– Fine MotorFine Motor

–– BlocksBlocks–– Pencil/Paper skillsPencil/Paper skills--scribbling, copyingscribbling, copying–– Eating skills (report)Eating skills (report)

–– Gross MotorGross Motor–– Rolling, sitting, crawling, standing, cruising,Rolling, sitting, crawling, standing, cruising,

walking (gait), runningwalking (gait), running–– Ball playingBall playing–– StairsStairs–– Tricycle, bicycle (report)Tricycle, bicycle (report)

Physical ExaminationPhysical Examination

•• LanguageLanguage–– Identification of body parts, pictures,Identification of body parts, pictures,

colourscolours, shapes, shapes–– Spontaneous/story tellingSpontaneous/story telling–– Plurals, pronouns, sentence structurePlurals, pronouns, sentence structure–– Following commandsFollowing commands

•• CognitionCognition–– Puzzles, concepts (numbers, big/small,Puzzles, concepts (numbers, big/small,

on/under, long/shorton/under, long/short, open/close), open/close)–– AnalogiesAnalogies–– CategoriesCategories

Physical ExaminationPhysical Examination

•• Activities of Daily LivingActivities of Daily Living–– FeedingFeeding–– DressingDressing–– ToiletingToileting–– SleepSleep

•• SocialSocial–– PlayPlay--Key discriminator betweenKey discriminator between

GDD/DLI/ASD subGDD/DLI/ASD sub--typestypes–– SelfSelf–– Other childrenOther children

–– InteractionInteraction–– ParentsParents–– ExaminerExaminer

History & Physical Examination:History & Physical Examination:What We Should KnowWhat We Should Know

1. Static vs Progressive encephalopathy1. Static vs Progressive encephalopathy2. Sub2. Sub--type of developmental delaytype of developmental delay

–– Frames etiologic assessment & rehabilitationFrames etiologic assessment & rehabilitationreferralsreferrals

3. Current developmental level (functional3. Current developmental level (functionalskills)skills)

4. Possible suspected underlying etiology4. Possible suspected underlying etiology–– Directs targeted evaluationDirects targeted evaluation

5. Suspected timing (prenatal vs perinatal vs5. Suspected timing (prenatal vs perinatal vspostnatal)postnatal)

6. Current rehabilitation and social service6. Current rehabilitation and social serviceprovisionprovision–– Identification of needsIdentification of needs

Laboratory InvestigationLaboratory Investigation

•• Selective and rationalSelective and rational•• Determined by history & physicalDetermined by history & physical

examination & subexamination & sub--type oftype ofdevelopmental delaydevelopmental delay

•• Not determined by severity of delayNot determined by severity of delay•• Controversy regarding extentControversy regarding extent•• Recent advancesRecent advances

–– GeneticsGenetics–– Molecular biologyMolecular biology–– NeuroimagingNeuroimaging

Laboratory InvestigationLaboratory Investigation

•• CK (muscle weakness)CK (muscle weakness)•• ToxinsToxins

–– Thyroid (absent neonatal screening)Thyroid (absent neonatal screening)–– Lead (psychosocial impoverishment/CDCLead (psychosocial impoverishment/CDC

guidelines)guidelines)•• Metabolic ScreeningMetabolic Screening

–– CBG/lactate/pyruvate/ammonia/LFTs/aminoCBG/lactate/pyruvate/ammonia/LFTs/aminoacids/organic acids/VLCFA/carnitineacids/organic acids/VLCFA/carnitine

–– Absent neonatal screening, consanguinity,Absent neonatal screening, consanguinity,episodic decompensation, prior affected child,episodic decompensation, prior affected child,multiple nonmultiple non--ectodermal organs affected,ectodermal organs affected,imaging changesimaging changes

•• RadiologicRadiologic–– Bone age (macrosomia)Bone age (macrosomia)–– Skeletal survey (dysmorphology/storage)Skeletal survey (dysmorphology/storage)

Laboratory InvestigationLaboratory Investigation

•• GeneticGenetic–– Karyotype (high resolution)Karyotype (high resolution)–– FISH specific syndromes (e.g.FISH specific syndromes (e.g.

PWS/Angelman 15qPWS/Angelman 15q--))–– SubSub--telomeric probestelomeric probes–– Array Comparative GenomicArray Comparative Genomic

HybridizationHybridization–– Molecular (e.g. Fragile XMolecular (e.g. Fragile X--Triplet repeatTriplet repeat

expansion FMR1, Rett syndromeexpansion FMR1, Rett syndrome--MECP2)MECP2)–– Specific enzymatic analysisSpecific enzymatic analysis

Laboratory InvestigationLaboratory Investigation•• ElectrophysiologicElectrophysiologic

–– EEGEEG--if paroxysmal eventsif paroxysmal events–– EMG/NCSEMG/NCS--if peripheral involvementif peripheral involvement

suggestedsuggested–– Evoked PotentialsEvoked Potentials--if hearing or visionif hearing or vision

suspectsuspect•• NeuroimagingNeuroimaging

–– CTCT–– MRIMRI

–– Newer techniquesNewer techniques--not yet generallynot yet generallyrecommendedrecommended

–– VolumetricVolumetric–– DWIDWI–– fMRIfMRI–– MRSMRS

ReferralReferral

•• ConsultationsConsultations–– GeneticsGenetics--syndromic diagnosis, testingsyndromic diagnosis, testing–– OphthalmologyOphthalmology--visual integrityvisual integrity–– AudiologyAudiology--hearing screenhearing screen–– PsychiatryPsychiatry--behavioural issuesbehavioural issues–– NursingNursing--specific care needs, feeding,familyspecific care needs, feeding,family

supportsupport–– Social servicesSocial services--financial, respitefinancial, respite

•• Rehabilitation Services/CommunityRehabilitation Services/CommunityResourcesResources–– Occupational therapyOccupational therapy--fine motor, ADL, feedingfine motor, ADL, feeding–– PhysiotherapyPhysiotherapy--gross motorgross motor–– SpeechSpeech--language pathologylanguage pathology--languagelanguage–– PsychologyPsychology--cognition, behaviourcognition, behaviour

Recommended TestingRecommended Testing

•• American Academy ofAmerican Academy ofNeurology/Child Neurology SocietyNeurology/Child Neurology Society–– Practice ParametersPractice Parameters

–– Guidelines for diagnostic evaluations based onGuidelines for diagnostic evaluations based onavailable evidenceavailable evidence

–– Best practice given a particular situationBest practice given a particular situation–– Global Developmental DelayGlobal Developmental Delay–– Cerebral PalsyCerebral Palsy–– AutismAutism

–– Algorithms developed yet individual latitudeAlgorithms developed yet individual latitudegiven needs and uniqueness of particulargiven needs and uniqueness of particularclinical situationclinical situation

Recommended TestingRecommended Testing

•• Global Developmental DelayGlobal Developmental Delay–– LeadLead

–– Targeted to those with identifiable risk factorsTargeted to those with identifiable risk factors–– ThyroidThyroid

–– Targeted to those without newborn screening orTargeted to those without newborn screening orspecific systemic features of hypothroidismspecific systemic features of hypothroidism

–– MetabolicMetabolic–– Indicated if no newborn universal screeningIndicated if no newborn universal screening–– Historical or physical examination findingsHistorical or physical examination findings

suggestive of possible metabolic etiologysuggestive of possible metabolic etiology–– Parental consanguinityParental consanguinity–– Prior lossPrior loss–– Episodic decompensationEpisodic decompensation–– RegressionRegression–– Dysmorphic features/hepatosplenomegalyDysmorphic features/hepatosplenomegaly

Recommended TestingRecommended Testing

•• Global Developmental DelayGlobal Developmental Delay--Parameter RecommendationsParameter Recommendations–– GeneticGenetic

–– Karyotype routinely even if no dysmorphic featuresKaryotype routinely even if no dysmorphic features–– FMR1 molecular genotypingFMR1 molecular genotyping–– FISH if delay unexplained or specific syndromeFISH if delay unexplained or specific syndrome

suggestedsuggested–– EEGEEG

–– Only if suggestion of seizures or an epilepsyOnly if suggestion of seizures or an epilepsysyndromesyndrome

–– NeuroimagingNeuroimaging–– Routine with MRI preferable to CT especially in theRoutine with MRI preferable to CT especially in the

context of physical findingscontext of physical findings–– Hearing/Vision screeningHearing/Vision screening

–– ObligatoryObligatory

Recommended TestingRecommended Testing

•• Global Developmental DelayGlobal Developmental Delay–– Additional considerationsAdditional considerations

–– Bone age if macrosomic (Soto syndrome)Bone age if macrosomic (Soto syndrome)–– SubSub--telomeric probestelomeric probes–– Array CGHArray CGH

–– FISH study spanning entire genomeFISH study spanning entire genome–– 55--10% yield being reported10% yield being reported

–– MECP2MECP2–– Severe unexplained delay in both females andSevere unexplained delay in both females and

malesmales

Global Developmental DelayGlobal Developmental Delay--EtiologyEtiology

•• Main etiologic categoriesMain etiologic categories—— Intrapartum asphyxia (22%)Intrapartum asphyxia (22%)—— Cerebral dysgenesis (16%)Cerebral dysgenesis (16%)—— Chromosomal abnormality (13%)Chromosomal abnormality (13%)—— Genetic syndromes (10%)Genetic syndromes (10%)—— Psychosocial deprivation (10%)Psychosocial deprivation (10%)

•• Top 5 categories account for 80% ofTop 5 categories account for 80% ofetiologic diagnoses madeetiologic diagnoses made

•• OthersOthers--term PVL, toxins, metabolic,term PVL, toxins, metabolic,infectiousinfectious

Global Developmental DelayGlobal Developmental Delay--EtiologyEtiology

•• Factors predictive of etiologic yieldFactors predictive of etiologic yield–– Female gender (2x greater frequency of yield)Female gender (2x greater frequency of yield)–– Abnormal pre/perinatal historyAbnormal pre/perinatal history–– Absence of any autistic featuresAbsence of any autistic features–– MicrocephalyMicrocephaly–– Abnormal neurologic examAbnormal neurologic exam–– Dysmorphic featuresDysmorphic features

•• FactorsFactors notnot predictive of etiologicpredictive of etiologicyieldyield

—— Family history of GDD/MRFamily history of GDD/MR—— Severity of GDDSeverity of GDD—— CoCo--existing seizure disorderexisting seizure disorder—— MacrocephalyMacrocephaly

Global Developmental DelayGlobal Developmental Delay--EtiologyEtiology

•• In the absence of any abnormalIn the absence of any abnormalfeatures on history or physicalfeatures on history or physicalexamination, screeningexamination, screeninginvestigations (karyotype, FMR1investigations (karyotype, FMR1molecular genotyping &molecular genotyping &neuroimaging) revealed an underlyingneuroimaging) revealed an underlyingpreviously unsuspected etiology inpreviously unsuspected etiology inan additional onean additional one--sixth (16%) ofsixth (16%) ofchildren with a global developmentalchildren with a global developmentaldelaydelay

Global Developmental DelayGlobal Developmental Delay--EtiologyEtiology

•• Autistic features negative predictorAutistic features negative predictor—— Parallels poor etiologic yield in children withParallels poor etiologic yield in children with

diagnosed ASD (PDD & PDDdiagnosed ASD (PDD & PDD--NOS)NOS)

•• Severity of delaySeverity of delay notnot a predictor ofa predictor ofetiologic yieldetiologic yield—— Vigor of etiologic search not predicated onVigor of etiologic search not predicated on

how severely affected the child may behow severely affected the child may be—— Severity should not be a factor influencingSeverity should not be a factor influencing

referral for subreferral for sub--specialist evaluationspecialist evaluation

Global Developmental DelayGlobal Developmental Delay--EtiologyEtiology

•• Over a third (42%) of etiologicOver a third (42%) of etiologicdiagnoses potentially preventablediagnoses potentially preventable(intrapartum asphyxia, psychosocial(intrapartum asphyxia, psychosocialdeprivation, toxin exposure) at adeprivation, toxin exposure) at atheoretical leveltheoretical level

•• A third of etiologic diagnoses haveA third of etiologic diagnoses haveimplications regarding recurrenceimplications regarding recurrencerisk estimation and modifications inrisk estimation and modifications inmedical managementmedical management

Key PointsKey Points

•• Recognition of subRecognition of sub--types of globaltypes of globaldevelopmental delay & mentaldevelopmental delay & mentalretardationretardation

•• Overview of comprehensiveOverview of comprehensiveneurodevelopmental assessmentneurodevelopmental assessment

•• Aspects of specialty evaluation &Aspects of specialty evaluation &managementmanagement

•• Importance of etiologicImportance of etiologicdeterminationdetermination

•• Targeted evaluation & investigationTargeted evaluation & investigation