supplement to chapter 4 - developmental problems

8/6/2019 Supplement to Chapter 4 - Developmental Problems

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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



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.



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



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.



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



Work-up Towards Establishing the

Diagnosis

1. Detailed directed history

2. Physical examination

3. Ancillary evaluations

4. Laboratory investigations



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



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.



Detailed Directed History

Neonatal complications

- intra-ventricular hemorrhage

- sepsis / meningitis

- hypoxia from respiratory complications

- severe hyperbilirubinemia



Detailed Directed History

Social history

- mentally retarded parents

- single parent

- teenage parent

- child abuse or neglect by parents / caregivers



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



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)




Examination of the head:

- occipito-frontal circumference (microcephaly

or macrocephaly)

- comparison with previous head circumference

- head shape

- fontanelles and sutures




Neurological examination:

- neurological signs (e.g. hypotonia, hypertonia)- persistence of primitive reflexes or abnormal

postures

- focal motor findings

- involuntary movements

- encephalopathic states



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



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



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



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



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.



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



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%)



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



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



Cerebral PalsyCerebral Palsy

Prof Low Poh SimProf Low Poh Sim

Department of Paediat ricsDepartment of Paediat ricsNational University of SingaporeNational University of Singapore



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



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



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



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



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



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

--



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



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



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



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



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



Dental ProblemsDental Problems

CariesCaries

Enamel hypoplasiaEnamel hypoplasia

Peridontal diseasePeridontal disease

MalocclusionMalocclusion



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



RehabilitationRehabilitation

PhysiotherapyPhysiotherapy

Occupational therapyOccupational therapy

Speech therapySpeech therapy

Behavioral therapyBehavioral therapy



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



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



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



Speech TherapySpeech Therapy

Stimulation of language development Stimulation of language development

Communication skillsCommunication skills

A rticulation A rticulation



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



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

supplement to chapter 4 - developmental problems

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