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PT 641 Peds > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

what are the two main categories of genetic disorder

A

chromosomal abnormalities and gene defects

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2
Q

3 types of chromosomal abnormalities

A

nondisjunction, deletion, translocation

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3
Q

cell divide unequally

A

nondisjunction

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4
Q

part of a chromosome is lost

A

deletion

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5
Q

part of a chromosome becomes detached and reattaches to a completely different chromosome

A

translocation

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6
Q

3 types of gene defects

A

autosomal dominant, autosomal recessive, sex-linked

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7
Q

one parent is affected by the gene

A

autosomal dominant

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8
Q

either parents is a carrier for the disorder

A

autosomal recessive

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9
Q

abnormal gene is carried on the X chromosome

A

sex-linked

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10
Q

cri-du-chat is the deletion of the short arm of which chromosome

A

5

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11
Q

affects nervous system and affects intellect, can have cardiopulmonary components

A

cri-du-chat

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12
Q

what are the features of cri-du-chat syndrome

A

Cat-like cry
Microcephaly
Widely spaced eyes
Profound intellectual disability
Hypotonia
Developmental delay
Club feet
Hip dislocation
Joint hypermobility
Scoliosis

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13
Q

what is the cat cry caused by in cri-du-chat syndrome

A

laryngeal malformation

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14
Q

prader-willi syndrome is due to partial deletion of what

A

long arm of chromosome 15

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15
Q

prader-willi syndrome

A

obesity, underdeveloped gonads, short stature, hypotonia and mild/mod intellectual disability, respiratory compromise, gross motor delays

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16
Q

what disorder is characterized as children becoming obsessed with food at 2, even though they typically have feeding difficulties prior

A

prader-willi syndrome

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17
Q

partial deletion of long arm chromosome 15 inherited from dad

A

prader-willi syndrome (PWS)

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18
Q

partial deletion of long arm chromose 15 inherited from mother

A

angelman syndrome

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19
Q

features of angelman syndrome

A

developmental delays, intellectual disability, ataxia, speech impairments, progressive microencephaly

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20
Q

when do delays typically present for angelman syndrome

A

6-12 mo

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21
Q

characteristic of happy affect and flapping hand/arm movements, “happy puppet syndrome”

A

angelman syndrome

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22
Q

how many cases of arthogryposis multiplex congenita (AMC) are cased from a genetic cause

A

1/3

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23
Q

neuropathic AMC is caused by an abnormality on which chromosome

A

5

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24
Q

distal AMC is inherited as an autosomal dominant trait with abnormality on which chromosome

A

9

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25
Q

T/F: AMC is a non-progressive neuromuscular syndrome

A

T

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26
Q

features of arthrogryposis multiplex congenita (AMC)

A

multiple joint contractures, misaligned joints, clubfeet, hip dislocation often requiring surgical correction

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27
Q

autosomal dominant disorder of collagen synthesis that affects bone metabolism; brittle bone disease

A

osteogenesis imperfecta (OI)

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28
Q

a disorder of bone fragility chiefly caused by mutations in COL1A1 and COL1A2 genes that encode type I procollagen

A

osteogenesis imperfecta (OI)

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29
Q

features of osteogenesis imperfecta (OI)

A

short stature, bowing of long bones, ligamentous laxity, kyphoscoliosis, weakness, average or abive average intelligence

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30
Q

how many types of osteogenesis imperfecta (OI) are there, which are the most common and which are most severe

A

7, I and IV, II and III

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31
Q

what type of activities do you want to avoid with pts with osteogenesis imperfecta (OI)

A

pull to sit –> do ACTIVE exercises, not passive bc do not want to cause a fx

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32
Q

leading inherited cause of intellectual disability

A

fragile X syndrome (FXS)

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33
Q

how to manage OI

A

medical (fx mgnt, parent education), surgical (telescoping rods)

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34
Q

the fragile site for fragile X syndrome (FXS) is on the X chromosome which has a gene that encodes for a ______

A

fragile X mental redardation protein (FMRP)

35
Q

features of fragile X syndrome (FXS)

A

intellectual disability, hypotonia, characteristic long and narrow face with a prominent forehead, jaw and ears, joint hypermobility, flat feet, inguinal hernia, pectus excavatum, mitral valve prolapse

36
Q

as fragile X syndrome (FXS) passes through generation, does it disease worsen or get better

A

worsen as it is passed on

37
Q

behavior characteristics of fragile X syndrome (FXS)

A

short attention span, impulsivity, tactile defensiveness, perseveration of speech

38
Q

most common single gene defect associated with autism spectrum disorder

A

fragile X syndrome (FXS)

39
Q

a neurodevelopmental disorder that almost only affects females

A

rett syndrome

40
Q

features of rett syndrome

A

intellectural disability (severe to profound), ataxia, and growth retardation

41
Q

mutation to which gene is responsible for development of synaptic connections in the brain that causes problems in rett syndrome

A

MECP2

42
Q

what is william’s syndrome characterized by

A

cardiovascular disease, developmental delays, learning disabilities

43
Q

first 6 months, infant appears typically developing, followed by decline of skills loss of language and motor skills, loss of hand function, develop hand flapping and mouthing

A

rett syndrome

44
Q

see verbal abilities, highly social personalities, and affinity for music

A

williams syndrome

45
Q

facial characteristics of william’s syndrome

A

small upturned nose, long upper lip, wide mouth, small chin, puffy eyes

46
Q

features of williams syndrome

A

low birth weight, feeding intolerance, slow weight gain, sensitive hearing, lower muscle tone, joint laxity

47
Q

22 Q 11.2 deletion is a microdeletion of which chromosome

A

22

48
Q

also called digeorge syndrome, velocardiofacial syndrome, opitx G/BBB syndrome

A

22 Q 11.2 deletion

49
Q

features of 22 Q 11.2 deletion

A

heart abnormalities, cleft palate, distinctive facial features, kidney abnormalities, feeding difficulties, hearing loss, short stature

50
Q

what are kids with 22 Q 11.2 deletion at increased risk for developing

A

ADHD, ASD and later in life anxiety, depression, bipolar

51
Q

how many features do you need to have to be diagnosed with VACTERL/VATER Association

A

3

52
Q

features of VACTERL

A

Vertebral defects (misshapen, fused, missing or extra)
Anal atresia (narrowing or blockage of anus)
Cardiac defects (ventricular septal defect, atrial septal defect, tetralogy of fallot)
Tracheo-esophagel fistula
Renal anomalies (missing one or both kidneys)
Limb abnormalities (poorly developed or missing thumbs/radius)

53
Q

a chromosomal disorder resulting in 47 chromosomes instead of 46

A

down syndromes (T21)

54
Q

occurs due to failure of cell division at chromosome pair 21

A

down syndrome

55
Q

most to least common chromosome abnormality at 21

A

Nondisjunction (each cell in the body have 3 copies of chromosome 21)
Translocation (extra chromosome 21, but is is attached or translocated onto another chromosome)
Mosaic (some cells have 3 copies of chromosome 21, some have 2)

56
Q

what is the most common chromosomal disorder

A

T21

57
Q

what factors play a role in increase incidence of T21

A

maternal age

58
Q

neurpathology of T21

A

microcephaly, decreased diameter of head, reduction of secondary sulci, lack of small neurons, abnormalities to pyramidal tracts of motor cortex (difficulties with motor coordination), lack of and delay of myelination (up till age 6)

59
Q

physical characteristics of T21

A

brachycephaly, fontanels are large and take longer to close, face has flat contour (undeveloped bones), small nose, eyes appear narrow/slanted eyelids, small mouth, tongue sticking out of mouth, short neck/webbing, small ears, abdominal protuberance, small hands and feet, small pinky fingers that curve in, simian crease in hands, toes are small, wide space between 1st and 2nd toes, short in stature

60
Q

cardiopulmonary impairments of T21

A

congenital heart defect, atrioventricular septal defect (hole between pumping chambers or collecting chambers), tetralogy of fallot (VSD, narrowing of passage from R ventricle to lungs, enlarged R ventricle, enlarged aorta)

61
Q

flattening of the back of the head

A

brachycephaly

62
Q

visual deficits T21

A

myopia, cataracts, strabismus, nystagmus

63
Q

what percent of children with T21 present with mild to moderate hearing loss

A

60-80%

64
Q

MSK impairments T21

A

decreased growth/slow growth, decreased leg length, decreased metacarpal and metatarsal growth, hypotonia, decreased strength, lig laxity (due to collagen deficit, pes planus, patellar instability, scoliosis, atlantoaxial instability)

65
Q

what are two hallmarks of T21

A

hypotonia and ligament laxity

66
Q

neuromuscular impairments T21

A

hypotonia (low force production and poor cx of muscles), slow postural reactions (balance limitations, slow reaction time, decreased speed), joint hypermobility (instability, movement anxiety)

67
Q

other medical issues associated with T21

A

celiac disease, hypothyroidism, ear canal stenosis, frequent otitis media, airway obstruction/sleep (low tone and large tongue), transesophagela fistual (opening between esophagus and trachea allow fluid to pass into trachea/lungs, ASD

68
Q

hematologic concerns for T21

A

polycythemia, macrocytosis, thrombocytopenia, leukopenia

69
Q

elevated number of RBCs

A

polycythemia

70
Q

enlargement of RBCs, associated with hypothyroidism

A

macrocytosis

71
Q

decreased number of platelets, can be associated with congenital heart defects

A

thrombocytopenia

72
Q

low number of WBCs

A

leukopenia

73
Q

two oncological concerns in T21

A

myelodyplastic syndrome (MDS) and leukemia

74
Q

precancerous condition, originate in bone marrow, decreased platelet count, increased size RBC, decreased number of RBC

A

myelodysplastic syndrome (MDS)

75
Q

what can myelodysplastic syndrome progress to if left untreated

A

leukemia

76
Q

cancer of blood cells, blasts cells crowd out the normal bone marrow cells, diagnosis via bone marrow aspirate, can be treated with chemotherapy or bone marrow transplantation

A

leukemia

77
Q

how to evaluate cognitive deficits during eval for t21

A

repetition of instruction, use of visual cues/demonstration, repetition of practice of skills, hand over hand or hand over foot demonstration

78
Q

standardized test for T21

A

AIMS, PDMS-2, GMGFM 88, BOT 2

79
Q

gait of children with T21

A

wide base of support, toeing out and increased hip ER, increased knee hyperextension, excessive pronation

80
Q

best standardized test to help with prognosis of T21

A

GMFM

81
Q

intervention examples for T21

A

sensory/tactile input, postural alignment, core strengthening, WB activities to promote joint stability, facilitation of co-cx at joints, gross motor skills/transitions, gait training, orthotic management

82
Q

gait training with children with T21

A

increase stride length, weight shifting onto lateral border of feet, improve foot alignment, increase trunk rotation, eccentric control

83
Q

will excessive pronation in T21 be outgrown on its own

A

no - will most likely need orthotics

PT 641 Peds (16 decks)

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