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genetics / development Flashcards

1
Q

chromosome

A

in the nucleus of each cell of our genes

23 pairs

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2
Q

sex chromosome

A

X or Y

XX is female
XY is male

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3
Q

autosome

A

one of the numbered chromosomes
NOT a sex chromosome

Arranged largest to smallest, short to long

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4
Q

allele

A

different versions of a gene

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5
Q

Homozygous

A

two alleles are the same

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6
Q

heterozygous

A

two alleles are different

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7
Q

x linked genetics: fathers

A

Girls will be carriers

boys CANNOT have disease or be carriers

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8
Q

x linked genetics: mothers

A

50% girls will be carriers

50% of the boys having the DISEASE (cannot be carriers)

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9
Q

Chromosomal abnormalities signs and symptoms

A 
dysmorphic features
growth restrictions
developmental delay
hypotonia
cardiac impairment
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10
Q

Down syndrome due to

A

nondisjunction

translocation

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11
Q

nondisjunction

A

the paired copy of the chromosome does not separate at cell division

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12
Q

translocation

A

long arm chromosomes 15,21,22 breaks off and reattaches

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13
Q

Down syndrome

A

Trisomy 21 (3 copies of chromes 21 in each cell)

1/800 babies in BC

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14
Q

Children with DS tend to have:

A

identifiable facial features
hypotonia, dec strength, lig laxity

heart defects (40%)

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15
Q

Brain patho features of DS

A

reduced wt of brain
small convolutions
structural abnormalities in motor cortex

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16
Q

Orthopaedic impairments of DS

A

dec strength / lig laxity

i.e. Atlanta axial instability (check at 5yrs old, avoid somersaults / horseback riding until checked)

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17
Q

Prader WIlli Syndrome

A

deletion of chromosome

maybe related to disturbance in hypothalamus

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18
Q

Duchenne Muscular Dystrophy

A

mutation of single gene on X chromosome

usually in males from mother carriers

X21 fails to produce dystrophin protein

progression symmetric mm wasting

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19
Q

Duchenne muscular dystrophy progression

A

diagnosis at 4-5yrs old via physical exam, CK levels and genetic testing

Steady progression

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20
Q

S/S of Duchenne

A

calf pseudohypertrophy
gowers sign
developmental signs
gait

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21
Q

PT management Duchenne

A

Lifespan approach (early intervention, school age, adult)

Medical management

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22
Q

5 types of muscular dystrophy

A 
beckers
congential 
facioscapulohumeral 
myotonic
emery-dreifus
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23
Q

beckers MD

A

slowly progressive, has some dystrophin

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24
Q

congenital MD

A

diagnosed after birth, variable prognosis

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25
facioscapulohumeral MD
rare and affects male/females equally
26
myotonic MD
most common after DMD, least severe
27
emery-dreifus MD
humeral, perineal, some facial involvement
28
T/F spinal muscular atrophy is autosomal recessive disorder
T
29
spinal muscular atrophy
anterior horn degeneration (LMN disease) Gene deletion, extension of deletion =severity
30
Types of spinal muscular atrophy
Type 1: wergnig Hoffman (most severe) Type 2: intermediate form Type 3: kugelberg Type 4: adult onset
31
pathogenesis of spinal muscular atrophy
continuous apopotsis of anterior horn cells loss of survival motor neurons
32
impairments of spinal muscular atrophy
hypotonia (dec in function NOT strength) weakness /fatigue (symmetrical and proximal)
33
treatment of spinal muscular atrophy
preventative maintain strength, posture, resp, cardio function
34
Hemophilia
x linked recessive | severe bleeding disorder
35
Genetics of hemophilia
if mother is a carrier, boy will have it 50%, and girl will be carrier 50%
36
T/F if mother is not carrier of hemophilia, but previous child had it, the 2nd child will definitely have it
NO, the chances are extremely LOW
37
primary hemostasis
immediate response to vascular injury platelet clot at site
38
secondary hemostasis
delayed
39
T/f the defining abnormality of hemophilia is impairment of secondary hemostasis
T
40
hemophilia Type A
factor VIII deficiency (responsible for 80% of hemophilia)
41
Hemophilia Type B
factor IX deficiency (responsible for 20% of hemophilia)
42
Severe hemophilia major issues
+++ venous access, need for prophylaxis, risk of inhibitor 10-20 bleeds/year
43
moderate hemophilia major issues
+ venous access, need for prophylaxis, risk of inhibitor 1-3 bleeds/year
44
mild hemophilia major issues
DDAVPchallenge for hemophilia A <1 bleed/year
45
can hemophilia patient exercise
yes, we educate, assess over time, and exercise once bleed is stable
46
can kids w hemophilia do sports
yes low risk sports (swimming, golf, tennis, biking) moderate (soccer, hockey, volleyball) are permitted High risk (ice hockey, martial arts, football) should be avoided
47
marfan syndrome is an autosomal dominant disorder T/F
T
48
marfan syndrome
``` connective tissue disorder Chromosome 15 (fibrillar) is suppose to form elastic fibres and theres a lack of them ```
49
Greatest implication of Marfan syndrome
aortic aneurysm
50
PT management for Marfan syndrome
Strength | exercise prescription and close monitoring
51
neural tube deficits is multifactorial inheritance T/F
T
52
neural tube deficits
failure of neural tube to close | i.e. spina bifida
53
where is neural tube deficit most common
lumbar and low thoracic region
54
what helps neural tube deficit rate decline
folic acid and pre natal screening
55
ethology of neural tube deficit
genetic exposure to teratogens folic acid deficiency
56
Myelomeningocele is AKA
spina bifida
57
impairments of myelomeningocele
``` flacid or spastic paralysis mm weakness/wasting contractures dec/absent reflexes dec/absent proprioception ``` vert column (kyphosis, scolioses, lordosis, osteoporosis) rectal/bladder incontinence
58
T/F spina bifida can lead to chiari malformation
T
59
T/F cerebral palsy is a progressive lesion of the brain that occurs before age of 2
F - its NON progressive
60
Cerebral palsy
disorder of movement and posture
61
5 co morbidies of Cerebral palsy
``` hearing/speech deficit seizures scoliosis hip dislocation mental retardation ```
62
why has CP increased
inc in pre mature birth survival advancing maternal age more vitro fertilization
63
causes of CP
normal birth weight children: 80% because of factors before birth low birth weight children: don't know when the brain damage occurs
64
T/F any prenatal, perinatal or post natal condition that results in anoxia hemorrhage or brain damage is diagnosed as CP
T
65
diagnosis of CP
registry | hip surveillance
66
Risk factors associated with Cp pre natal
maternal: infection, diabetes, malnutrition, thyroid, seizures abnormal placental attachment
67
risk factors associated with CP perinatal
prematurity low birth weight low Apgar score prolapsed umbilical cord
68
risk factors with post natal CP
``` neonatal infection brain tumour CVA anoxia environmental toxis ```
69
does having multiple risk factors lead to CP
no
70
Prenatal causes Cp first/second trimester
brain development disorder
71
prenatal causes CP early third trimester
peri-ventricular leukomalacia intraventricular hemorrhage
72
prenatal causes CP late third trimester
basal ganglia / thalamic lesions infarcts in middle cerebral artery
73
perinatal causes of CP
birth asphyxia | birth trauma
74
post natal causes of CP
stroke meningitis /encephalitis brain tumours near drowning
75
periventricular leukomalacia
small holes in brain around ventricles due to death of small areas of brain tissue
76
most common ischemic brain injury in pre mature infants:
periventricular leukomalacia
77
increased risk for periventricular leukomalacia if:
26-34 weeks gestation small for gestational age (<3.3lbs) rupture of membranes, preterm labour
78
can PVL happen to term babies
yes, could have severe quadriplegia /learning difficulties / epilepsy
79
PVL diagnosis
ultrasound | cystic changes
80
when do paediatric strokes occur
90% happen in first week of life
81
T/F first week of life is your highest risk for stroke across lifespan
T
82
perinatal stroke sign
seizure
83
perinatal stroke which after involved
middle cerebral
84
risk factors perinatal stroke
pre-eclampsia ruptured membranes bleeding diabetes
85
perinatal stroke possible causes
thormbi from placenta congenital heart disease dehydration
86
do adult strokes or perinatal strokes have better outcome
perinatal
87
Gross motor function classification system | 1-5
1 - speed, balance impaired 2 - railing for stairs, uneven surfaces and crowds are hard 3 - assistive mobility device but could be out of chair 4 - wheeled mobility 5- all areas motor function limited. not independent

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