6. Development Flashcards
Define: Global Developmental Delay (3)
- significant delay (at least 2 SDs below the mean with standardized tests) in at least two developmental domains (gross motor, fine motor, speech/language, cognitive, social/personal, activities of daily living) in a child <5 yr of age
- predict a diagnosis of intellectual disability in the future
- after 5 years of age, intellectual and physical disabilities are described (no longer a development ‘delay’ as catch up is not expected
Describe epidemiology: Global Developmental Delay (2)
- 5-10% of children have neurodevelopmental delay
- careful evaluation can reveal a cause in 50-70% of cases
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Prenatal Biological Factors (3)
- Genetic mutations
- Central nervous system deformities
- Metabolic issues
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Prenatal Environmental Factors (2)
- Teratogens/toxins (substances of abuse, medications, etc.)
- Infections
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Perinatal (3)
- Asphyxia
- Premature birth
- Neonatal complications
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Postnatal (4)
- Neglect/unhealthy psychosocial environment
- Infections
- Trauma
- Toxins
Name clinical features: Global Developmental Delay (5)
- key questions in addition to standard pediatric history:
- detailed developmental milestones: rate of acquisition, regression of skills
- associated problems: feeding, seizures, behaviour, sleep
- ototoxic antibiotics, frequent ear infections
- physical exam
- micro/macrocephaly, dysmorphic features head-to-toe, hepatosplenomegaly, height and weight
- neurodevelopmental exam (neurological exam, congenital abnormalities, dysmorphic features, current developmental level)
Describe investigations: Global Developmental Delay (8)
- investigations (guided by history and physical examination); see CPS step-wise algorithm
- vision and hearing test
- EEG if suspected seizures
- chromosomal microarray, karyotype, Fragile X DNA testing,
- brain MRI if abnormal neuro exams, micro/macroecephalopathy
- MECP2 in girls with clinical course suggestive of Rett’s Syndrome
- metabolic screening (glucose, electrolytes, lactate, ammonia, liver function, pyruvate, albumin, trigylcerides, uric acid, amino acids, urine organic acids, acylcarnitine profile, carnitine (free and total), creatine phosphokinase, homocysteine, Biotinidase, copper, ceruloplasmin
- lead, CBC, blood gas, urea, creatitine, electrolytes with anion gap, ferritin, B12, TSH, CK
- OT, PT, and/or SLP assessments
Describe management: Global Developmental Delay (2)
- dependent on specific area of delay
- therapy services (e.g. speech and language therapy for language delay, OT and/or PT for motor delay), early intervention services (e.g. infant development services, Ontario Early Years Centres)
Describe: Classification of Intellectual Disability

Define: Intellectual Disability (3)
- state of functioning that begins in childhood and is characterized by limitations in both intelligence and adaptive skills
- historically defined as an IQ <70
- often preceded by diagnosis of global developmental delay
Describe epidemiology: Intellectual Disability (1)
- 1% of general population; M:F = 1.5:1
Describe clinical features: Intellectual Disability (4)
- 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
- physical exam
- check growth, dysmorphic features, complete physical exam
Describe investigations: Intellectual Disability (3)
- standardized psychology assessment (includes IQ test and measure of adaptive functioning)
- vision, hearing, and neurologic assessment
- genetic and metabolic testing as indicated
Describe management: Intellectual Disability (6)
- main objective: enhance adaptive functioning level
- requires an interprofessional team with strong case coordination
- emphasize community-based treatment and early intervention
- behaviour management services, therapy services (e.g. OT, SLP), medications for associated conditions
- education: life skills, vocational training, communication skills, family education
- psychosocial support for individual and family; respite care, individual/family therapy
Describe prognosis: Intellectual Disability (1)
- higher rates of sensory deficits, motor impairment, behavioural/emotional disorders, seizures, psychiatric illness
Define: Language Delay (3)
- no universally accepted definition, but often identified around 18 mo of age with enhanced well baby visit
- if formally tested, at least one standard deviation below mean of age on standardized testing
- can be expressive (ability to produce or use language), receptive (ability to understand language), or both
Describe epidemiology: Language Delay (3)
- M>F
- ~10-15% of 2 yr old children have a language delay, but only 4-5% remain delayed after 3 yr of age
- ~6-8% of school-aged children have specific language impairment (many of whom were not identified before school entry)
Describe etiology: Language Delay (9)
- intellectual disability
- developmental disorders: cerebral palsy, autism spectrum disorder, constitutional language delay
- constitutional language delay
- genetic/metabolic: DS, Fragile X syndrome, Williams syndrome, hypothyroidism, PKU, etc
- mechanical problems: cleft palate, cranial nerve palsy, hearing impairment
- medical condition: seizure disorder (includes acquired epileptic aphasia), CP, TORCH infection, iron deficiency, lead poisoning, etc.
- psychosocial: neglect or abuse
- selective mutism
- language specific learning disorder
- isolated language delay
Describe history: Language Delay (5)
- concerns about hearing, delay in language development or regression in previously normal language development
- delayed language milestones, presence of red flags, regression (see Table 6, Developmental Milestones, P6)
- must determine if language delay is expressive, receptive, or mixed
- determine differences in behaviour at home, school, other social environments
- risk factors: family history of speech and language delay, male, prematurity, low birth weight, hearing loss
Describe physical exam: Language Delay (2)
- guided by history: look for abnormal growth, dysmorphisms, unusual social interactions (lack of eye contact, not pointing)
- include full exam of the external/internal ear (e.g. TM scarring), oral pharynx (e.g. cleft palate), and neurologic system (including tone)
Describe investigations: Language Delay (5)
- use of language specific screens in primary care setting: The Early Language Milestone
- Clinical Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS), Modified Checklist for Autism in Toddlers (M-CHAT), etc.
- developmental evaluation
- hearing and vision screening (audiology and optometry referral)
- CBC (to rule out anemia), venous blood lead levels, genetic/metabolic workup as indicated
Name: Risk Factors for Sensorineural Hearing Loss (7)
- Genetic syndromes/family history
- Congenital (TORCH) infections
- Craniofacial abnormalties
- <1500 g birthweight
- Hyperbilirubinemia/kernicterus
- Asphyxia/low APGAR scores
- Bacterial meningitis, viral encephalitis