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Supplement to Chapter 4:
Approach To Child WithGlobal Developmental Delay
Department of PaediatricsDepartment of Paediatrics
National University of SingaporeNational University of Singapore
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Developmental Delay
Limitation in the actual acquisition of skills or rate
of learning, when compared with children of the
same chronological age.
³Significant´ delay => performance or ability is 2
standard deviations or more below the mean on
accepted norm-referenced developmental
testing, e.g. Denver Developmental Screening
Test.
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Definition for Global
Developmental Delay
Global developmental delay is operationally
defined as significant delay in 2 or more
developmental domains:
� Gross motor / fine motor
� Speech / language
� Cognition
� Personal / social (including play & recreation)
� Skills for activities of daily living
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Definition for Other Forms of
Developmental DelayMotor delay is defined as significant delay in gross and/or fine
motor skills with appropriate performance in other
developmental domains.
In developmental language disorders, the significant delay is
restricted to speech and language skills with normal
performance in other developmental domains.
In autistic spectrum disorders, there are observed qualitative
defects in social skills, communication (verbal and non-
verbal) and restrictive/repetitive patterns of behaviour.
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Objectives of Assessment of Child
with Global Developmental Delay
1. Confirm the presence of developmental delay
2. Categorize the developmental domains affected
3. Establish aetiologic diagnosis for the delay
4. Manage any associated medical complications
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Work-up Towards Establishing the
Diagnosis
1. Detailed directed history
2. Physical examination
3. Ancillary evaluations
4. Laboratory investigations
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Detailed Directed HistoryFamily history
- consanguinity
- other affected
family
members
- early post-natal
deaths of other
sibs
Pregnancy (Prenatal events)
- intra-uterine difficulties
- use of drugs or alcohol
- toxin or infection
exposure
- previous miscarriage or
stillbirth
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Detailed Directed HistoryPerinatal events
- timing of delivery: prematurity
- obstetric complications
- birth weight: low BW, small for gestation
- APG AR scores
- signs of possible hypoxic-ischemic encephalopathy
e.g. poor sucking, irritability, obtundation, seizures.
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Detailed Directed History
Neonatal complications
- intra-ventricular hemorrhage
- sepsis / meningitis
- hypoxia from respiratory complications
- severe hyperbilirubinemia
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Detailed Directed History
Social history
- mentally retarded parents
- single parent
- teenage parent
- child abuse or neglect by parents / caregivers
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Detailed Directed History Details of developmental milestones in all
domains
Present developmental abilities
Any actual loss or regression of previously
acquired skills
If positive => progressive encephalopathy as
opposed to static encephalopthy
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Physical Examination
General examination:General examination:
-- major congenital anomalies (e.g. spina bifida,major congenital anomalies (e.g. spina bifida,
cardiac defects)cardiac defects)
-- dysmorphic features or minor congenital anomaliesdysmorphic features or minor congenital anomalies
-- failure to thrivefailure to thrive
-- neurocutaneous stigmata (e.g. caféneurocutaneous stigmata (e.g. café--auau--lait or lait or achromic macules)achromic macules)
-- visceral abnormalities (e.g. hepatosplenomegaly)visceral abnormalities (e.g. hepatosplenomegaly)
-- skeletal abnormalities (e.g. dwarfism)skeletal abnormalities (e.g. dwarfism)
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Physical Examination
Examination of the head:
- occipito-frontal circumference (microcephaly
or macrocephaly)
- comparison with previous head circumference
- head shape
- fontanelles and sutures
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Physical Examination
Neurological examination:
- neurological signs (e.g. hypotonia, hypertonia)- persistence of primitive reflexes or abnormal
postures
- focal motor findings
- involuntary movements
- encephalopathic states
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Ancillary Evaluations
1. Visual assessment
(a) vision screening
(b) full ophthalmologic examination
2. Audiometric assessment
(a) behavioral audiometry
(b) brainstem audiometry evoked response if (a) is not possible
3. Formal psychometric assessment (for IQ)
4. Psychological evaluation of patient and family
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Laboratory Investigations1. Cytogenetic analysis for chromosomal anomalies
- higher yield when there are dysmorphic features
- may need testing for subtelomeric rearrangements in the presence
of family history of developmental delay or mental retardation
2. Molecular analysis for fragile X syndrome
3. Neuroimaging (MRI preferable to CT scans)
- higher yield when there are asymmetric neurological findings or
abnormal OFC
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Laboratory Investigations
4. Screen for metabolic disorders
- higher yield in the presence of history of
a) parental consanguinity or affected sibling
b) multiple organ involvement
c) developmental regression
5. Thyroid function test- if not screened previously in the newborn period
- if clinically indicated
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Other Laboratory Investigations
To be Considered1. Electroencephalography
- for the diagnosis of treatable electroclinical syndromes such as:
(a) Landau-Kleffner syndrome (electrical status epilepticus duringslow-wave sleep)
(b) severe myoclonic epilepsy
2. Serum creatine phosphokinase
- if suspecting muscular dystrophy
3. Electromyography and nerve conduction studies
- if other neuromuscular disorders strongly suspected
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Laboratory Investigations
1. Other lab investigations need to be carefully selected withconsideration of the potential for diagnostic yield versusfactors such as invasiveness and cost .
2. Routine metabolic screening is not indicated in the initialevaluation, in the absence of other clinical features that potentially increases the yield.
3. In the presence of clinical suspicion, specific diagnostictesting e.g. lysosomal enzyme analysis, urinemucopolysaccharides, and very-long-chain fatty acids may beneeded, especially if there exists potential t reatment or specific genetic counseling.
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Aetiologic Yield Following Evaluation of
Child with Global Developmental Delay
Aetiologic diagnosis is obtained in 41% to 63% of childrenwith global developmental delay.
Predictive factors that were significantly associated withidentification of an aetiology for the delay:
History - positive family history
- toxin exposure
- perinatal difficulties
Physical examination - dysmorphology
- microcephaly
- focal motor signs
- absence of autistic traits
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Common Diagnoses Following Evaluation
of Child with Global Developmental Delay
Cerebral dysgenesis (17%)
Hypoxic-ischemic encephalopathy (10%)
Chromosomal anomalies (10%)
Toxin exposure (alcohol or cocaine) (8%)
Metabolic disorders (5%)
Neuromuscular disorders (3%
) Neurocutaneous syndromes (3%)
Other genetic / dysmorphic syndromes (3%)
Epileptic syndromes (3%)
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Importance of Establishing
the Diagnosis
Specific therapeutic interventions if possible
(for some neurometabolic disorders)
General medical management
Prognosis and long term outcome
Genetic counseling for future risks
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Follow-Up1. Review results of previous investigations
2. Referral for appropriate rehabilitation services and/or
developmental programmes
3. If no diagnosis ascertained yet, to re-assess
developmental progress and consider
(a) further metabolic testing as the need arises
(b) the possibility of progressive encephalopathy
4. Sometimes diagnosis may become apparent with time
especially for dysmorphic syndromes
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Cerebral PalsyCerebral Palsy
Prof Low Poh SimProf Low Poh Sim
Department of Paediat ricsDepartment of Paediat ricsNational University of SingaporeNational University of Singapore
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Definition of CerebralDefinition of Cerebral
PalsyPalsy A group of A group of nonnon--progressiveprogressive motor motor
disorders of disorders of movement and posturemovement and posture
due to a defect or lesion of thedue to a defect or lesion of thedeveloping braindeveloping brain
PrevalencePrevalence
22--2.5 / 1000 live births2.5 / 1000 live births
88--10 % of very premature babies10 % of very premature babies
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Causes of Cerebral PalsyCauses of Cerebral Palsy
A ntenatal A ntenatal
Infection, genetic, developmental, vascularInfection, genetic, developmental, vascular
PerinatalPerinatal
Factors relating to difficulties in delivery,Factors relating to difficulties in delivery,int rapartum infectionint rapartum infection
PostnatalPostnatalInfections, seizures, cerebrovascular events,Infections, seizures, cerebrovascular events,hypoxic, toxic or metabolic encephalopathyhypoxic, toxic or metabolic encephalopathy
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Types of Cerebral PalsyTypes of Cerebral Palsy
SpasticSpastic (70%)(70%)
Quadriplegia, hemiplegia, diplegiaQuadriplegia, hemiplegia, diplegia
DyskineticDyskinetic (15%)(15%)Choreoathethoid, dystonicChoreoathethoid, dystonic
A taxic A taxic (5%)(5%)
MixedMixed (10%)(10%)
HypotonicHypotonic
early stages of the spastic, dyskinetic andearly stages of the spastic, dyskinetic andataxic formsataxic forms
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Spastic Cerebral PalsySpastic Cerebral Palsy
Most common type of CP Most common type of CP 70%70%
Clinical features are those of pyramidalClinical features are those of pyramidal
releasereleasePosturePosture
ToneTone
Deep tendon reflexesDeep tendon reflexes
Cont racturesCont ractures Pattern of involvement Pattern of involvement hemihemi--, di, di-- or or
quadriplegiaquadriplegia
Persistence of primitive reflexesPersistence of primitive reflexes
Pseudobulbar palsy, dysfunctionalPseudobulbar palsy, dysfunctional
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Spastic Diplegic Cerebral PalsySpastic Diplegic Cerebral Palsy
Spasticity LL >> ULSpasticity LL >> UL
Typical gait Typical gait
Hip & knee flexionHip & knee flexionHip adduction and inward rotation of legsHip adduction and inward rotation of legs
Equinovarus/valgus of feet Equinovarus/valgus of feet
Kyphosis of dorsal spineKyphosis of dorsal spine
Lordosis of lumbar spineLordosis of lumbar spine
Normal IQNormal IQ
Normal speechNormal speech
A ssociated with low birth weight and prematurity A ssociated with low birth weight and prematurity
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Dyskinetic Cerebral PalsyDyskinetic Cerebral Palsy
Signs of ext rapyramidal involvement Signs of ext rapyramidal involvement
Fluctuating muscle toneFluctuating muscle tone
(hypotonia in infancy(hypotonia in infancy --> dystonia,> dystonia,rigidity)rigidity)
Varying deep tendon reflexes Varying deep tendon reflexes
PosturingPosturing Involuntary movements (athetosis,Involuntary movements (athetosis,
chorea) accentuated by st ress, anxietychorea) accentuated by st ress, anxietyand handlingand handling
--
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Ataxic Cerebral Palsy Ataxic Cerebral Palsy
Rare form of CPRare form of CP
Hypotonic and hyporeflexic in infancyHypotonic and hyporeflexic in infancy
A taxic A taxic titubation, t runcal and gait titubation, t runcal and gait
Intention t remors and incoordinationIntention t remors and incoordination
Mental deficit is mildMental deficit is mild Nystagmus is uncommonNystagmus is uncommon
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Associated Medical Associated Medical
ProblemsProblems Seizure disorder Seizure disorder
commonest in spastic hemiplegics andcommonest in spastic hemiplegics and
quadriplegicsquadriplegics
Mental deficiencyMental deficiency
Mixed type of CPMixed type of CP
QuadriplegicsQuadriplegics
Speech retardationSpeech retardation
Dysarthria, expressive aphasia, mentalDysarthria, expressive aphasia, mentaldeficiencydeficiency
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Associated Medical Associated Medical
ProblemsProblems Visual disorder Visual disorder
st rabismusst rabismus
ref ractive errorref ractive error
visual field defectsvisual field defects
blindnessblindness cortical, retinal, cornealcortical, retinal, corneal
DeafnessDeafness Behavioral disordersBehavioral disorders
Learning disordersLearning disorders
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Aims in the Management Aims in the Management
To prevent the handicap f romTo prevent the handicap f romincreasingincreasing
To increase or improve functionTo increase or improve function
To provide suitable educationTo provide suitable education
To enhance recreationTo enhance recreation
To ensure the best possible emotionalTo ensure the best possible emotionallifelife
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Team Approach in theTeam Approach in the
ManagementManagement The parentsThe parents
The paediat rician / neurologist The paediat rician / neurologist
Orthopaedic surgeonOrthopaedic surgeon Ophthalmologist Ophthalmologist
ENT specialist ENT specialist
TherapistsTherapists physio, occupational andphysio, occupational and
speechspeech Medical social workerMedical social worker
Psychologist Psychologist
Educationist Educationist
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Dental ProblemsDental Problems
CariesCaries
Enamel hypoplasiaEnamel hypoplasia
Peridontal diseasePeridontal disease
MalocclusionMalocclusion
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Role of medicationRole of medication
Seizure cont rolSeizure cont rol
Muscle relaxationMuscle relaxation
Involuntary movementsInvoluntary movements
A ttention deficit and hyperactivity A ttention deficit and hyperactivity
Sleep disturbanceSleep disturbance
Dysfunctional bowel movementsDysfunctional bowel movements
A spiration pneumonia A spiration pneumonia
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RehabilitationRehabilitation
PhysiotherapyPhysiotherapy
Occupational therapyOccupational therapy
Speech therapySpeech therapy
Behavioral therapyBehavioral therapy
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Physical TherapyPhysical Therapy
Reduces the effect of abnormal muscleReduces the effect of abnormal musclehabitshabits
Encourages fundamental motions andEncourages fundamental motions andfunctions of the ext remitiesfunctions of the ext remities
Functional t raining in sitting, standingFunctional t raining in sitting, standing
and walkingand walking Gait t rainingGait t raining
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Physical TherapyPhysical Therapy
Mechanical aidsMechanical aids
to prevent and correct deformitiesto prevent and correct deformities
for support for support
to cont rol involuntary movementsto cont rol involuntary movements
to assist in wanted motionsto assist in wanted motions
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Occupational TherapyOccupational Therapy
Improves muscular coordinationImproves muscular coordination
Improves handImproves hand--eye coordinationeye coordination
Develops concept of motionDevelops concept of motion
Training in self Training in self--help skillshelp skills
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Speech TherapySpeech Therapy
Stimulation of language development Stimulation of language development
Communication skillsCommunication skills
A rticulation A rticulation
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Psychological AssessmentPsychological Assessment
Level and quality of mental functioningLevel and quality of mental functioning
Personality att ributesPersonality att ributes
A reas of st rength and weakness A reas of st rength and weakness
A bility to benefit f rom therapy and A bility to benefit f rom therapy andstimulationstimulation
Current performance level andCurrent performance level andmaturitymaturity
Predict ultimate capacity in the futurePredict ultimate capacity in the future
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Psychological AssessmentPsychological Assessment
Based on the evaluation, recommendBased on the evaluation, recommend
Type of t reatment and care most likelyType of t reatment and care most likelyto be practical and rewardingto be practical and rewarding
Educational placement and t raining inEducational placement and t raining inareas of special needareas of special need
Guidance to parents and teachers inGuidance to parents and teachers inhelping child to learn and adjust helping child to learn and adjust