1
Q
Define: Global Developmental Delay (3)
A
- 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
2
Q
Describe epidemiology: Global Developmental Delay (2)
A
- 5-10% of children have neurodevelopmental delay
- careful evaluation can reveal a cause in 50-70% of cases
3
Q
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Prenatal Biological Factors (3)
A
- Genetic mutations
- Central nervous system deformities
- Metabolic issues
4
Q
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Prenatal Environmental Factors (2)
A
- Teratogens/toxins (substances of abuse, medications, etc.)
- Infections
5
Q
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Perinatal (3)
A
- Asphyxia
- Premature birth
- Neonatal complications
6
Q
Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Postnatal (4)
A
- Neglect/unhealthy psychosocial environment
- Infections
- Trauma
- Toxins
7
Q
Name clinical features: Global Developmental Delay (5)
A
- 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)
8
Q
Describe investigations: Global Developmental Delay (8)
A
- 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
9
Q
Describe management: Global Developmental Delay (2)
A
- 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)
10
Q
Describe: Classification of Intellectual Disability
A
11
Q
Define: Intellectual Disability (3)
A
- 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
12
Q
Describe epidemiology: Intellectual Disability (1)
A
- 1% of general population; M:F = 1.5:1
13
Q
Describe clinical features: Intellectual Disability (4)
A
- 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
14
Q
Describe investigations: Intellectual Disability (3)
A
- standardized psychology assessment (includes IQ test and measure of adaptive functioning)
- vision, hearing, and neurologic assessment
- genetic and metabolic testing as indicated
15
Q
Describe management: Intellectual Disability (6)
A
- 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
16
Q
Describe prognosis: Intellectual Disability (1)
A
- higher rates of sensory deficits, motor impairment, behavioural/emotional disorders, seizures, psychiatric illness
17
Q
Define: Language Delay (3)
A
- 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
18
Q
Describe epidemiology: Language Delay (3)
A
- 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)
19
Q
Describe etiology: Language Delay (9)
A
- 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
20
Q
Describe history: Language Delay (5)
A
- 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
21
Q
Describe physical exam: Language Delay (2)
A
- 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)
22
Q
A
23
Q
Describe investigations: Language Delay (5)
A
- 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
24
Q
Name: Risk Factors for Sensorineural Hearing Loss (7)
A
- Genetic syndromes/family history
- Congenital (TORCH) infections
- Craniofacial abnormalties
- <1500 g birthweight
- Hyperbilirubinemia/kernicterus
- Asphyxia/low APGAR scores
- Bacterial meningitis, viral encephalitis
25
True or false
Bilingual exposure generally does explain a frank delay in language development
False
## Footnote
Bilingual exposure generally does NOT explain a frank delay in language development
26
Describe management: Language Delay (3)
* specific to etiology
* referrals to: SLP, Otolaryngology Head and Neck Surgery (OHNS), and dental professionals, general support services
* prevention: parents can read aloud to their child, engage in dialogic reading, avoid baby talk, narrate daily activities, etc.
27
Describe prognosis: Language Delay (3)
* depends on etiology – best prognosis for developmental speech delay
* if language delay persists beyond 5 yr old, more likely to have difficulties in adulthood
* persistent language delay is associated with poor academic performance, behavioural problems, social isolation
28
Define: Specific Learning Disorder (3)
* specific and persistent failure to acquire academic skills despite conventional instruction, adequate intelligence, and sociocultural opportunity
* a significant discrepancy between a child’s intellectual ability and their academic performance
* types: reading (dyslexia), writing, mathematics (dyscalculia)
29
Describe epidemiology: Specific Learning Disorder (2)
* prevalence: 10%
* high incidence of psychiatric comorbidity: anxiety, dysthymia, conduct disorder, major depressive disorder, oppositional defiant disorder, ADHD
30
Describe etiology: Specific Learning Disorder (3)
* pathogenesis is unknown, likely genetic factors involved
* learning disabilities may be associated with a number of conditions:
* genetic/metabolic: Turner syndrome, Klinefelter syndrome
* perinatal: prematurity, low birth weight, birth trauma/hypoxia
* postnatal: CNS damage, hypoxia, environmental toxins, FAS, psychosocial deprivation (understimulation), malnutrition
* poor visual acuity is NOT a cause
31
Name risk factors: Specific Learning Disorder (5)
* positive family history
* prematurity
* other developmental and mental health conditions
* neurologic disorders (e.g. seizure disorders, neurofibromatosis)
* history of CNS infection/irradiation/traumatic injury
32
Describe history and physical exam: Specific Learning Disorder (4)
* school difficulties (academic achievement, behaviour, attention, social interaction, over-reliance on teacher)
* development of negative self-concept s reluctance to participate even in areas of strength
* social issues: overt hostility towards parents/teachers; difficulties making friends, bullying, and anxiety
* look for dysmorphisms, complete physical exam
33
Describe investigations: Specific Learning Disorder (3)
* psychoeducational assessment, educational history from school staff
* individual scores on achievement tests in reading, mathematics, or written expression (WISC III, WRAT) \>2 SD below that expected for age, education, and IQ
* evaluate attention, memory, expressive language, coordination skills
34
Describe management: Specific Learning Disorder (4)
* provide quality instruction for specific learning disability
* support student by modifying the curriculum and/or providing accommodations (e.g. scribe for writing, extra time for tests, photocopied notes, etc.)
* consider grade retention in certain students (no guidelines exist, very rare in Ontario)
* specialized education placements that can provide educational remediation
35
Describe prognosis: Specific Learning Disorder (2)
* limited information available about persistence of learning disabilities over time
* low self-esteem, poor social skills, 40% school drop-out rate
36
Define: Fetal Alcohol Spectrum Disorder (3)
* term describing the range of effects of prenatal exposure to alcohol, including physical, mental, behavioural, and learning disabilities
* abstinence from alcohol during pregnancy is recommended
* spectrum includes: FAS, partial FAS, ARBD (alcohol related brain damage) and ARND (alcohol related neurodevelopmental disorder)
37
Describe etiology: Fetal Alcohol Spectrum Disorder (2)
* prevalence of FAS and FASD is 0.1% and 1.0%, respectively
* most common preventable cause of intellectual disability
38
Describe pathogenesis: Fetal Alcohol Spectrum Disorder (5)
* specific mechanism of FASD is unknown, but hypotheses include
* nutritional deficits
* toxic effects of acetaldehyde
* alteration of placental transport
* abnormal protein synthesis
* and altered cerebral neurotransmission
39
Describe diagnosis: Fetal Alcohol Spectrum Disorder (2)
* often misdiagnosed or missed entirely
* diagnosis of fetal alcohol syndrome (FAS), alcohol-related birth defects (ARBD), and alcohol-related neurodevelopmental disorder (ARND) all require evidence of maternal drinking during pregnancy
40
Name the criteria for diagnosis of alcohol-related birth defects (1)
* congenital anomalies, including
* malformations and dysplasias of the cardiac, skeletal, renal, ocular, and auditory systems
41
Name the criteria for diagnosis of fetal alcohol syndrome (3)
* **growth deficiency**: low birth weight and/or decelerating weight over time not due to nutrition
* **characteristic pattern** **of facial anomalies**: short palpebral fissures (\<2 SD below mean), flattened philtrum, thin upper lip (having all 3 features is highly specific for alcohol exposure, don’t need maternal history to confirm)
* **CNS dysfunction (need ≥3)**: motor skills; neuroanatomy/neurophysiology; cognition; language; academic achievement; memory; attention; executive function (impulse control and hyperactivity); affect regulation; adaptive behaviour, social skills or social communication OR microcephaly in infant and young children
42
Name the criteria for diagnosis of alcohol-related neurodevelopmental disorder (2)
* CNS dysfunction (similar to FAS)
* complex pattern of behavioural or cognitive abnormalities inconsistent with developmental level that cannot be explained by familial background or environment alone
43
Describe management: Fetal Alcohol Spectrum Disorder (2)
* early diagnosis is essential to prevent secondary disabilities
* no cure, but individuals with FASD and their families should be linked to community resources and services to improve outcome
44
Describe prognosis: Fetal Alcohol Spectrum Disorder (6)
* secondary disabilities include
* unemployment
* mental health problems
* difficulties with the law
* inappropriate sexual behaviour
* disrupted school experience
* peer problems
TN Pédiatrie
flashcards
Decks in class (14)
# Cards
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1. Primary care52
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2. Common Complaints90
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3. Adolescent Medecine9
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4. Child Abuse and Neglect17
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5. Cardiology81
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6. Development44
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8. Fluids and electrolytes12
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10. Hematology21
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12. Infectious Diseases160
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13. Neonatology122
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14. Nephrology57
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16. Respirology63
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17. Rheumatology37
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18. Common medications9
