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TN Pédiatrie > 6. Development > Flashcards

6. Development Flashcards

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
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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
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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
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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
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5
Q

Regarding factors of Global Developmental Delay, name possible causes of this category of etiology: Perinatal (3)

A
  • Asphyxia
  • Premature birth
  • Neonatal complications
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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
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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)
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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
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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)
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10
Q

Describe: Classification of Intellectual Disability

A
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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
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12
Q

Describe epidemiology: Intellectual Disability (1)

A
  • 1% of general population; M:F = 1.5:1
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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
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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
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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
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16
Q

Describe prognosis: Intellectual Disability (1)

A
  • higher rates of sensory deficits, motor impairment, behavioural/emotional disorders, seizures, psychiatric illness
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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
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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
Q

True or false

Bilingual exposure generally does explain a frank delay in language development

A

False

Bilingual exposure generally does NOT explain a frank delay in language development

26
Q

Describe management: Language Delay (3)

A
  • 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
Q

Describe prognosis: Language Delay (3)

A
  • 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
Q

Define: Specific Learning Disorder (3)

A
  • 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
Q

Describe epidemiology: Specific Learning Disorder (2)

A
  • prevalence: 10%
  • high incidence of psychiatric comorbidity: anxiety, dysthymia, conduct disorder, major depressive disorder, oppositional defiant disorder, ADHD
30
Q

Describe etiology: Specific Learning Disorder (3)

A
  • 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
Q

Name risk factors: Specific Learning Disorder (5)

A
  • 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
Q

Describe history and physical exam: Specific Learning Disorder (4)

A
  • 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
Q

Describe investigations: Specific Learning Disorder (3)

A
  • 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
Q

Describe management: Specific Learning Disorder (4)

A
  • 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
Q

Describe prognosis: Specific Learning Disorder (2)

A
  • limited information available about persistence of learning disabilities over time
  • low self-esteem, poor social skills, 40% school drop-out rate
36
Q

Define: Fetal Alcohol Spectrum Disorder (3)

A
  • 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
Q

Describe etiology: Fetal Alcohol Spectrum Disorder (2)

A
  • prevalence of FAS and FASD is 0.1% and 1.0%, respectively
  • most common preventable cause of intellectual disability
38
Q

Describe pathogenesis: Fetal Alcohol Spectrum Disorder (5)

A
  • 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
Q

Describe diagnosis: Fetal Alcohol Spectrum Disorder (2)

A
  • 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
Q

Name the criteria for diagnosis of alcohol-related birth defects (1)

A
  • congenital anomalies, including
    • malformations and dysplasias of the cardiac, skeletal, renal, ocular, and auditory systems
41
Q

Name the criteria for diagnosis of fetal alcohol syndrome (3)

A
  • 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
Q

Name the criteria for diagnosis of alcohol-related neurodevelopmental disorder (2)

A
  • 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
Q

Describe management: Fetal Alcohol Spectrum Disorder (2)

A
  • 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
Q

Describe prognosis: Fetal Alcohol Spectrum Disorder (6)

A
  • secondary disabilities include
    • unemployment
    • mental health problems
    • difficulties with the law
    • inappropriate sexual behaviour
    • disrupted school experience
    • peer problems

TN Pédiatrie (14 decks)

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