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P22 Pediatrics
Development Toronto Notes 2019 Development
Approach to Global Developmental Delay
• alsoknownasEarlyDevelopmentalImpairment
Definition
• performancesignificantlybelowaverageintwoormoredomainsofdevelopment(grossmotor,fine motor, speech/language, cognitive, social/personal, activities of daily living) in a child <5 yr of age
• predictadiagnosisofintellectualdisabilityinthefuture
Epidemiology
• 5-10%ofchildrenhaveneurodevelopmentaldelay
• carefulevaluationcanrevealacausein50-70%ofcases
Etiology
• CNSabnormalities(meningitis/encephalitis,brainmalformation,trauma,etc.)
• sensorydeficits(hearing,vision)
• environmental(psychosocialneglect,leadexposure,antenataldrugoralcoholexposure,etc.) • genetic/chromosomaldisorders(DS,FragileX,etc.)
• metabolicdisorders(inbornerrorsofmetabolism,hypothyroidism,irondeficiency,etc.)
• obstetrical(prematurity,HIE,TORCHinfections,etc.)
• sleepdisorders
• seizures
Clinical Presentation
• history
■ prenatal - intrauterine exposures (infections, alcohol), prenatal diagnosis,
■ obstetrical – complications, APGAR, infections, seizures, screening
■ pediatric - detailed developmental milestones: rate of acquisition, regression of skills
◆ associated problems: feeding, seizures, behaviour, sleep
◆ ototoxic antibiotics, frequenty ear infections ■ family history, consanguinity
■ social history
• physicalexam
■ micro/macrocephaly, dysmorphic features head-to-toe, hepatosplenomegaly, height and weight,
detailed neurological examination
• investigations(guidedbyhistoryandphysicalexamination)
■ neurodevelopmental assessment, neuroimaging, vision and hearing test, EEG, sleep study ■ OT, PT, and/or SLP assessments
■ psychosocial evaluation
■ blood work (lead, CBC, ferritin, TSH)
■ metabolic screening (glucose, electrolytes, lactate, ammonia, liver function, pyruvate, albumin, trigylcerides, uric acid, amino acids,urine organic acids, acylcarnitines, creatine phosphokinase)
■ neurologic – EEG or head CT
■ genetics consultation (microarray, Fragile X testing, testing for inborn errors of metabolism)
Management
• dependentonspecificareaofdelay
• therapyservices(e.g.speechandlanguagetherapyforlanguagedelay,OTand/orPTformotordelay),
early intervention services (e.g. infant development services, Ontario Early Years Centres)
Intellectual Disability
Definition
• stateoffunctioningthatbeginsinchildhoodandischaracterizedbylimitationsinbothintelligenceand adaptive skills
• historicallydefinedasanIQ<70
• oftenprecededbydiagnosisofglobaldevelopmentaldelay
Epidemiology
• 1%ofgeneralpopulation;M:F=1.5:1
Clinical Presentation
• history
■ earlier age of onset correlates with greater severity of ID
■ well below average general intellectual functioning
■ significant deficits in adaptive functioning in at least 2 of: communication, self-care, home-living,
social skills, self-direction, academic skills, work, leisure, health, safety • physicalexam
■ check growth, dysmorphic features, complete physical exam • investigations
Classification of Intellectual Disability
Severity
Mild Moderate Severe Profound
% Cases
85 10 3-4 1-2
IQ
50-70 35-49 20-34 <20
■ standardized psychology assessment (includes IQ test and measure of adaptive functioning)