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RC Prep - Dev Peds > Genetic > Flashcards

Genetic Flashcards

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
Q

Clinic criteria and exclusion for Rett

A

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
Q

Neurologic symptoms of premutation of Fragile X

A

FX- associated tremor/ataxia syndrome

Ataxic
Tremor
Parkinsonism
Neuropathy of lower extremities
Autonomic dysfunction
progressive cogntiive impairments
Executive function issues
Working memory

25
Q

Strategies to treat aggression in FX - non medication

A

Decrease overstimulation
Involve psychologist/BT

identify triggers
reduce reinforcing behaviors

26
Q

Medical and developmental issues to follow in 22q11.2 (Velocardiofacial syndrome)

A

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
Q

Medical complications of NF1

A

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
Q

Cognitive profile in Turner syndrome

A

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
Q

Physical findings of turner

A

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
Q

Clinical features (medical and developmental) of Smith Magenis

A

DDx for prader willi
chromosomal deletion

31
Q

Strategies for managing atlantoaxial instability

A
  • 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
Q

3 reasons why sign language is beneficial for children with Down Syndrome

A

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
Q

Two treatable reasons for cognitive impairment in T21

A

hearing loss
Cataracts/visual impairment
Hypothyroid
Seizures - 5-13%

34
Q

risk factors for lead exposure in child with T21

A

developmental delay - at higher risk of putting non-food items in their mouth
sensory seeking (IDD or ASD)

35
Q

List 4-6 physical features
in Klinefelters

A

gynecomastia
micro-orchidism and testis
tall stature
wide arm spam
intention tremor

most common genetic abnormality 1/600

36
Q

Physical Features of Noonan

A
37
Q

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.

A

Strength in short term verbal memory, visual spatial weakness, mild ID

Executive function/ADHD, overly friendly, non-social anxiety

ADHD, anxiety, mild ID

38
Q

4 red flags of IEM

A

regression
seizures
hypotonia
Movement disorders - lip smacking

39
Q

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.

A

Microarray
MECP2
WES

40
Q

Features of Tuberous sclerosis

A
41
Q

Long term consequences of NF1

A

Hypertension
Stroke (moyamoya)
increase malignancy risk
osteopenia/recurrent fractures
cardiac issues

42
Q

Klinefelters cognitive profile

A

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
Q

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

A

22q11.2
Microarray

High incidence on learning and behavior challenges

monitor & accommodate

ADHD
ASD
IDD
SLD
Speech
Schizophrenia

44
Q

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?

A

Angelman - maternal deletion of the UBE3A gene on chromosome 15
- tremulousness of the limbs

MECP2

45
Q

Sleep problems in Angelman

A
46
Q

First line test for PWS

A

Genetic testing through methylation study

47
Q

features of PWS by organ system

A

-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
Q

List 5 behavioural and psychiatric complications in PWS:

A

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
Q

4 strategies to help with hyperphagia and food seeking PWS

A

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
Q

What is the genetic test for myotonic dystrophy?

What is 2 DSM diagnosis in childhood onset myotonic dystrophy?

A

DMPK gene (type 1)- DM1

IDD
ADHD
Anxiety
Mood disorders

51
Q

NF 1. Long term complications

A
52
Q

Klinefeltders cognitive profile

A

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
Q

features of Smith-Magenis syndrome

A

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
Q

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.

A

Angelman syndrome (C15q11-13 maternal deletion) – DNA methylation analysis

55
Q

Characteristics of Cornelia de Lange

A

ASD

56
Q

cognitive profile of Williams syndrome?

A

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
Q

Physical and medical features angelmans

A

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
Q

angelmans developmental profile

A

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
Q

Williams syndrome genetic test & 4 physical features

A

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
Q

5 clinical features of angelman

A

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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