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RC Prep - Dev Peds > Genetic > Flashcards

Genetic Flashcards

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1
Q

Name 6 medical and 4 developmental characteristics to monitor in 22q11 syndrome

A

1) Epilepsy
2) Hypothyroid
3) Immune deficency
4) Obesity
5) T2DM
6) Hypocalcemia
7) Congenital heart disease
8) Hypertension
9) Hearing loss
10) scoliosis

1) IDD
2) Anxiety
3) ADHD
4) ASD

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2
Q

3 syndromes on ddx for facial features of FASD?

A

Prader Willi Syndrome
William syndrome
22q11

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3
Q

Risk of microarray to review with families

A

1) Incidental findings
2) Variants of uncertain significance
3) Psychosocial consequences (parental guilt, stress related to both positive or negative results)

In Canada, Bill S-201, The Genetic Non-Discrimination Act, passed in 2017, prevents employers and insurance companies from accessing genetic testing results or requesting an individual to undergo genetic testing

CPS Statement

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4
Q

NF1 developmental profile

A

-normal to low IQ –> 4-8% have ID
-poor visual-spatial perceptive skills
-LD in reading and spelling
-ADHD
- some studies suggest increased ASD

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5
Q

4 developmental and 4 medical characteristics of turners syndrome requring monitoring?

A

-ADHD
-anxiety
-LD - math
- ID (generally normal)
- spatial awareness/perception challenges
-mood

epilepsy
GI
sleep problems
congenital heart
delayed puberty

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6
Q

2 genetic syndromes in girls with mathematics learning disability

A

Fragile X
Turner syndrome

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7
Q

Down syndrome, asymptomatic, 3 strategies for management of atlantoaxial instability

A

parental education on the signs
avoiding contact sports
Importance of c-spine precautions

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8
Q

NF1 criteria and number needed for diagnosis

A

2/7:
- axillary freckling
- 2 or more neurofibromas or one plexiform neurofibroma
- 2 or more lisch nodules (iris hemartomas)
- optic glioma
- cafe-au-lait macules > or = 6 (>0.5 mm in pre-pubescent, >1.5 mm in post puberty)
- distinct osseos lesion
- family history or genetic mutation

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9
Q

5 features of fragile X premutation

A

fragile X associated tremor ataxia syntrome

  • intention tremor
  • cerebellar ataxia
  • cognitive impairment (later)

May also have
- parkinsonism
- short term memory impairment
- executive dysfunction
- neuropathy of lower extremities

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10
Q

3 developmental features of T21 that may suggest benefit of using/teaching ASL

A

receptive > expressive language skills
Strength in visuospatial skills
Impaired pronunciation

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11
Q

Physical features of angelman syndrome

A
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12
Q

Williams syndrome organ disorder and features associated with ELN gene deletion

A
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13
Q

Macrocephaly and GI polyps
DDx?
Ix?

A
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14
Q

Toddler, initially developing appropriately, then lost spoken language, new onset abnormal hand movements, cold hands and feet, what genetic test to do?

A

MECP2 mutation (Rett Syndrome)

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15
Q

Cognitive profile for Wiliams

A

mild IDD
Verbal > performance IQ
strength in expressive
visuospatial weakness
ASD symptoms
ADHD
Overly friendly (strength in expressive language and facial expression)

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16
Q

Child with polymicrogyria on MRI and bilateral spasticity. Top 3 differentials.

A

22q11.2
COL4A1
Congenital ZIka
Congenital CMV
Prenatal alcohol exposure

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17
Q

Child with cafe au lait macules and axillary freckling but has negative NF1 genetic testing. Name 3 DDx

A

Leigus syndrome (cafe au lait macules, freckling, no other features of NF1) - SPRED1 gene testing

Noonan syndrome

McCune-Albright Sydrome

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18
Q

William’s syndrome: cognitive profile. Name 3 relative strengths and 3 relative weaknesses. Name 3 behavioral challenges.

A

Strengths
- expressive language
- facial recognition
- short term memory

Weakness
- visuospatial
- motor skills
- cognitive impairment

Behavior
- executive function
- adaptive skills
- sensory processing
- anxiety
- emotional regulation

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19
Q

What is the genetic defect in Turner’s syndrome? What area of functioning on an IQ test would be the weakest? What learning problem is the most common in girls with Turner’s?

A

Partial or full monosomy of the second sex chromosome (45X0)
· IQ test: Low Performance IQ. Areas of weakness: Visual spatial, executive function, social cognition, processing speed
· Learning disability: NVLD and math
Pediatrics in Review (Loscalzo, 2008)

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20
Q

What are the four first-line plasma investigations from the TIDE protocol?
What are the two first-line urine investigations?

A
  • Plasma amino acids
  • Total homocysteine (fasting, minimum 3-4 h)
  • Copper
  • Ceruloplasmin
    What are the two first-line urine investigations?
  • Organic acids
  • Purines/pyrimidines (includes creatine metabolites)
  • ?Glycosaminoglycans, oligosaccharides

Likely:
Amino acids
Urine organic acids
homocysteine
microarray

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20
Q

NDDs in NF1

A

ID
ADHD
SLD
ASD rates unknown but social difficulties common
Language disorders

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21
Q

why should you not do screening xray in trisomy 21 for screening

A

cervical instability
- not predictive of future symptomatic issues
- falsely reassure

inadequate mineralization prior to 3 years old - no use

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22
Q

2 genetic syndromes associated with math SLD

A

Turner Syndrome
Fragile X

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22
Q

major features of Rett

A

midline hand movements (stereotypic hand movements)
Regression in speech
Regression in fine motor
Stereotypic hand movements
Normal early development
cold hands and feet (poor circulation)

Age 1-4 regression, recovery/stabilization by 5 years old

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23
Clinic criteria and exclusion for Rett
All 4 clinical criteria Atypical Rett 2/4 + 5/11 supportive Exclusion criteria - head trauma / severe infection - metabolic disorder - grossly abnormal development before 6 months MECP2 mutation can cause other NDDs that don't fit with classic Rett (or atypical) = MECP2 related disorder
24
Neurologic symptoms of premutation of Fragile X
FX- associated tremor/ataxia syndrome Ataxic Tremor Parkinsonism Neuropathy of lower extremities Autonomic dysfunction progressive cogntiive impairments Executive function issues Working memory
25
Strategies to treat aggression in FX - non medication
Decrease overstimulation Involve psychologist/BT identify triggers reduce reinforcing behaviors
26
Medical and developmental issues to follow in 22q11.2 (Velocardiofacial syndrome)
Cardiac - CHD Palate abnormalities Immune deficiency Calcium Seizure GI motility Growth cervical spine anomalies Learning disabilities, developmental delay (70-90%) 25% schizophrenia language 2' hearing ASD 20% ADHD Anxiety
27
Medical complications of NF1
CNS: Brain tumors Seizures/Epilepsy Impairment in coordination/balance/FM Polyneuropathy Headaches MSK: Dysplasia (long bone, sphenoid wing, vertebral) Scoliosis Osteoporosis Vascular: Arterial hypertension Pulmonary hypertension Stroke Cardiac Congenital anomalies pulmonary valve stenosis mitral valve anomalies hypertrophic cardiomyopathy Pulmonary Diffuse lung disease Endo Delayed puberty Growth restriction
28
Cognitive profile in Turner syndrome
Most have normal cognitive abilities May have decreased non-verbal abilities (compared to their verbal abilities) Difficulties with visual spatial skills, math Difficulties with executive functioning, processing speed Increased rates of ADHD exist in TS Motor deficits may exist Social learning may be a challenge - social immaturity, vulnerability
29
Physical findings of turner
Short stature Congenital lymphadema of hands/feet Webbed neck Nail dysplasia Narrow/high arched palate Short forth metacarpal or metatarsals Shield chest – widely spaced nipples Low hairline at neck base Cubitus valgus Madelung deformity of the forearm and wrist
30
Clinical features (medical and developmental) of Smith Magenis
DDx for prader willi chromosomal deletion
31
Strategies for managing atlantoaxial instability
- Annual surveillance for symptoms (history and neuro exam) - Caution regarding contact sports and trampoline use (no trampoline use before age 6 and then only supervised) - Cervical spine precautions during medical interventions - Counsel regarding warning signs of subluxation - Will need screening for special olympics (possibly other sport activities as well) If symptomatic: Cervical spine XR in neutral position Referral to pediatric neurosurgeon or orthopedic surgeon
32
3 reasons why sign language is beneficial for children with Down Syndrome
High risk of developing/worsening hearing loss Relative strength in visual spatial skills Relative strength early gesturing Weakness in expressive language vs. receptive language skills
33
Two treatable reasons for cognitive impairment in T21
hearing loss Cataracts/visual impairment Hypothyroid Seizures - 5-13%
34
risk factors for lead exposure in child with T21
developmental delay - at higher risk of putting non-food items in their mouth sensory seeking (IDD or ASD)
35
List 4-6 physical features in Klinefelters
gynecomastia micro-orchidism and testis tall stature wide arm spam intention tremor most common genetic abnormality 1/600
36
Physical Features of Noonan
37
You are seeing Jack, a 2-year-old boy with global developmental delay. On examination, he has hypotonia, lax joints, soft skin, and a cardiac murmur. He has dysmorphic facial features consisting of a broad forehead, a short nose, and a wide mouth with full lips. a) What syndrome does he have? b) What is his expected cognitive profile? c) What is the typical behavioural phenotype? d) List two common psychiatric co-morbidities.
Strength in short term verbal memory, visual spatial weakness, mild ID Executive function/ADHD, overly friendly, non-social anxiety ADHD, anxiety, mild ID
38
4 red flags of IEM
regression seizures hypotonia Movement disorders - lip smacking
39
19-month-old female child initially normal development, says “mama” at one year of age. Then loses all languages. History of seizures and fever. Significant hypotonia, no purposeful hand movements. Profound GDD. Lip smacking and tongue protruding.
Microarray MECP2 WES
40
Features of Tuberous sclerosis
41
Long term consequences of NF1
Hypertension Stroke (moyamoya) increase malignancy risk osteopenia/recurrent fractures cardiac issues
42
Klinefelters cognitive profile
IDD (slightly below average) Low verbal comprehension Deficit in language production SLD reading and writing Low gross and fine motor skills Difficulty with coordination, speed and dexterity Unclear profile given historical data bias
43
2 year old Rafael is referred to you for work of global developmental delay. On history, you find that he has had frequent illnesses requiring antibiotics and he has had a ventricular septal defect repair as well as repair of a bilateral cleft palate. On physical examination, you note posteriorly rotated ears and a slightly small chin. (a) What is the most likely diagnosis? (b) What one test would you order to confirm the diagnosis? (c) guidance for school entry (d) risk factor for neuropsychiatric disorders
22q11.2 Microarray High incidence on learning and behavior challenges monitor & accommodate ADHD ASD IDD SLD Speech Schizophrenia
44
Your next patient is Reena, a 3-year-old girl with cognitive impairment, severe speech delay, epilepsy, microcephaly, unusual hand movements, and ataxia. a) What are the top two genetic conditions on your differential diagnosis?
Angelman - maternal deletion of the UBE3A gene on chromosome 15 - tremulousness of the limbs MECP2
45
Sleep problems in Angelman
46
First line test for PWS
Genetic testing through methylation study
47
features of PWS by organ system
-Growth - initial FTT, short stature when older, obesity in childhood, hyperphagia -Head and neck - strabismus, difficulty feeding as infant -GU - undescended testis, hypogonadism, small phallus in males, hypoplasia of clitoris in females -MSK - small hands and feet, osteopenia/osteoporosis, scoliosis, kyphosis -Endo - GH deficiency, thyroid issues, adrenal dysfunction -Neuro/cognitive - low tone, seizures, IDD (mild), severe SLD -Sleep - OSA
48
List 5 behavioural and psychiatric complications in PWS:
Food seeking behavior, hyperphagia, food hoarding, stealing food Eating non-food items Rigidity (especially around food) Skin picking, rectal picking perseverative behaviors OCD, psychosis, anxiety, ADHD
49
4 strategies to help with hyperphagia and food seeking PWS
Putting food away (avoiding commercials, putting food away) Educating family about food habits and avoiding providing as reward Routine and structure around food Locking up foods Dietician to support balance diet
50
What is the genetic test for myotonic dystrophy? What is 2 DSM diagnosis in childhood onset myotonic dystrophy?
DMPK gene (type 1)- DM1 IDD ADHD Anxiety Mood disorders
51
NF 1. Long term complications
52
Klinefeltders cognitive profile
mean intelligence slightly below controls (broad range of IQ) verbal IQ lower than performance IQ language deficits = lower academic performance and social withdrawal expressive language more affected than comprehension neuromaturational delays with reductions in gross and fine motor skills, coordination, speed, dexterity, strength - may effect writing skills, speed on timed activities, athletic activities with peers
53
features of Smith-Magenis syndrome
Facial features Mild to moderate infant hypotonia/feeding problems/FTT Developmental delay, IDD, or speech delays Stereotypies, maladaptive beahviors Sleep disturbances Short stature obesity brachydactyly peripheral neuropathy optho or otolaryngological abnormalities
54
You have recently made the diagnosis of ASD in a young boy. His history and clinical evaluation is remarkable for language and intellectual deficits, seizures, hypermotoric and ataxic movements, paroxysms of laughter, and happy disposition. List one genetic syndrome you would consider in this patient. What is the associated gene? What testing would you consider for this patient.
Angelman syndrome (C15q11-13 maternal deletion) – DNA methylation analysis
55
Characteristics of Cornelia de Lange
ASD
56
cognitive profile of Williams syndrome?
Cognitive: Usually MID, difficulty with relational vocab and pragmatics, visual spatial/construction (block design); Good at concrete verbal skills, non-verbal reasoning typical behavioural phenotype: Indiscriminately social, trouble with social cues, making/keeping friends
57
Physical and medical features angelmans
Physical Exam: Microcephaly, brachycephaly Excessive tongue protrusion Light-coloured eyes and hair Dark eye lashes Hypotonia Hyperreflexia Tremor Ataxia Dysmorphic features - deep set eyes, prominent chin, macrostomia, small and wide-spaced teeth Seizures Motor stereotypies
58
angelmans developmental profile
Developmental & Cognitive Features GDD/IDD (severe/profound predominates) ASD Language disorder Impaired information processing Motor deficits **Visual impairment d/t poorly developed choroid & optic disk; strabismus; hyperopia Behavioural phenotype Compulsive laughter Happy disposition Hyperactivity Peculiar communication - Mouthing objects Motor stereotypies
59
Williams syndrome genetic test & 4 physical features
Features of William’s that are due to ELN gene deletion: Peripheral pulmonary artery stenosis Supravalvular aortic stenosis **Blood vessels are thicker and less resilient than normal d/t loss of elastin Short stature Hyperflexible joints Soft skin → premature skin wrinkling Lung problems Abnormalities of GI tract
60
5 clinical features of angelman
GDD/IDD Language disorder/language delay Happy disposition Compulsive bouts of laughter Ophthalmological problems and visual perception deficits Hypotonia, ataxia, motor delays Self injurious behavior

RC Prep - Dev Peds (12 decks)

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