Genetic and Developmental Conditions Flashcards
_______ = microscopic structures present in the nucleus of each cell which contain all of our genes
chromosomes
_____ = one of the numbered chromosomes, arranged from largest to smallest
autosomes
______ = a portion of a chromosome, too small to be seen under a microscope, which encodes a particular function
gene
_______ = different versions of a gene, located at the same place on a chromosome
allele
If two alleles are the same they are ______, if they are different they are _______
homozygous; heterozygous
_______ inheritance = 2 carrier parents
recessive
_______ inheritance = 1 affected parent, one normal
dominant
X - linked genetics: if father is affected, how will this effect the children?
girls will be carriers; boys will not have the disease or be carriers
X - linked genetics: if mother is the carrier, how will this effect the children?
50% change of girls being carriers; 50% change of boys having the disease
Can boys be carriers if their mother is a carrier of a x - linked genetic abnormality?
NO
What are 5 specials s/s of those effected with chromosomal abnormalities?
- dysmorphic features
- growth restrictions
- developmental delay
- hypotonia
- cardiac impairments
Down syndrome = 3 copies of chromosome ___ in each cell
21
What are the 2 possible causes of DS, at the chromosomal level?
- nondisjunction
2. translocation
Is nondisjunction or translocation more common?
nondisjunction (97% of cases)
_______ = paired copy of a chromosome does not separate at cell division
nondisjunction
______ = long arm of chr 15, 21, or 22 breaks off and reattaches
translocation
__% of children with DS will have heart defects
40
What 5 brain structures are especially smaller in those with DS?
- cerebrum
- cerebellum
- hippocampus
- pons
- maxillary bodies
Atlanto-axial stability should be checked at age ___ for those with DS.
5
Prader-Willi syndrome = ______ of chr 15 or defect
deletion (70% of cases)
Chr 15 genes code for ?
ribonucleoprotein N
Prader-Willi syndrome may be related to a disturbance in the ________
hypothalamus
DMD = __-linked disorder
X
DMD = mutation of a single gene; ____ fails to produce dystrophin protein
Xp21
Dystrophin links sarcolemma to _______; without dystrophin, sarcolemma is susceptible to damage/necrosis
actin
In DMD, muscle cells are replaced by ___ and ____ = contractors develop
fat; CT
DMD = progressive, (asymmetrical/symmetrical) muscle wasting
symmetric
How is DMD Dx?
- physical exam
- CK levels
- genetic testing
4 s/s of DMD?
- calf pseudohypertrophy
- Gower’s sign
- developmental signs
- gait
Pt’s with DMD should avoid (concentric/eccentric) exercises.
eccentric
Early PT intervention for pt’s with DMD should focus on ______ development and ______ training
motor; functional
_____ MD = more slowly progressive variant of DMD, have some dystrophin
Beckers
_____ MD = diagnosed shortly after birth, variable prognosis
congenital
_________ MD = rare and affects males and females equally
facioscapulohumeral
________ MD = most common after DMD, least severe
myotonic
______-_____ MD = humeral, peroneal and some facial involvement
Emery-Dreifus
_____ = anterior horn degeneration
SMA
Is SMA a LMN disease or UMN disease?
LMN
With SMA, the extent of the ______ = severity of the disease
lesion
Type 1 SMA?
Wergnig-Hoffman disease
Type 2 SMA?
Intermediate form
Type 3 SMA?
Kugelberg-Welander disease
Type 4 SMA?
Adult onset
2 impairments seen in SMA?
- hypotonia
2. weakness
Is the weakness seen in SMA asymmetric or symmetric? More proximal or distal?
symmetric; proximal
Treatment of SMA?
- symptomatic/preventative
- maintain skeletal strength, composition
- posture, respiratory/CV function
Hemophilia = X-linked
________
recessive
If a mother is a known carrier of hemophilia, there is a ___% chance that a baby boy will have hemophilia and a ___% chance that a baby girl will be a carrier
50
Hemophilia type __ = bleeding disorder characterized by a fact VIII deficiency, resp for approx 80% of cases
A
Hemophilia type __ = bleeding disorder characterized by factor IX deficiency, responsible for approx 20% of cases
B
What is the defining abnormality of hemophilia?
impairment of secondary hemostasis
Acronym for care after pt with hemophilia has a fall?
RRIICE
What outcome measure should you use to track and evaluate change over time in knee, elbow and ankle joints of pt’s with hemophilia?
hemophilia joint health score
Marfan syndrome = ________ dominant disorder
autosomal
Marfan’s is a ______ tissue disorder caused by defects on chromosome ___
connective; 15
Chromosome 15 encodes for ______, and lack of this = weakened CT
fibrillin
Greatest implication of Marfan syndrome?
aortic aneurysm
4 types of neural tube deficits?
- spina bifida occulta
- lipomeningocele
- meningocele
- myelomeningocele
3 possible causes of neural tube deficits?
- genetic predisposition
- exposure to teratogens
- folic acid deficiency or disorder
Spina bifida is also known as?
myelomeningocele
_____ ________ = decreased size of the cerebellum, which could result in slipping into foramen magnum
chiari malformation
Would a pt with spina bifida have increased or decreased reflexes?
decreased (or absent!)
____ = non-progressive lesion of the brain that occurs before the age of 2 years
CP
___ = a disorder of movement and posture
CP
____ = most common cause of neurological related disability in children
CP
CP: in children with normal birth weight, ___% of disability related to factors occurring BEFORE birth
80
CP: in children with normal birth weight, ___% of disability related to factors occurring AFTER birth
20
CP: in children with low birth weight, it is ______ when brain damage occurred
unclear
Risk factors associated with CP: __% are prenatal, __% are perinatal, and __% are post-natal
80; 15; 5
_______ _______ = most common ischemic brain injury in premature infants
periventricular leukomalacia
periventricular leukomalacia = small holes in the brain surrounding _______ due to the death of small areas of the brain
ventricles
During preterm period infants are at risk for ischemia in the _________ areas, results from the need for passive pressure circulation in infants
periventricular
Auto-regulation of brain blood flow is absent until approx __ weeks
36
Before __ weeks brain blood flow in the fetus is dependent on peripheral pressure maintained by mothers circualation
36
Periventricular ____ matter is easily damaged by altered blood flow until it begins to myelinate at about __ weeks gestiation
white; 32
PVL: lesions typically affect structures within ____-____ of brain, descending _______ tracts, and visual and acoustic _______
sub-cortex; corticospinal; radiations
Typically PVL = ______, but if it occurs in term babies = ______
diplegia; severe quadriplegia
For PVL Dx the lesions must be evident and persist for __-__ days
7-10
___ % of pediatric strokes occur in the first week of life
90
In perinatal stroke, ______ is often the first sign
seizure
______ in 60% of perinatal strokes
hemiparesis
5 possible risk factors for perinatal stroke?
- pre-eclampsia
- intrauterine growth restricition
- ruptured membranes
- bleeding
- diabetes
4 possible causes of perinatal stroke?
- thrombi from placenta
- hyper coagulation from genetic prothrombolitic disorder
- congenital heart disease
- dehydration
Perinatal stroke: ___-__ % have persistent neurological deficients or epilepsy
50-70
_______ hemiplegia is most common neurological outcome post perinatal stroke
sensorimotor
How many levels are there in the gross motor functional classification system? Are lower numbers higher function or lower?
5; higher
Genetic disorders can fall under what 4 categories?
- chromosome abnormalities
- single-gene disorders
- multi-factorial disorders
- mitochondrial disordes
What are 2 examples of chromosomal abnormalities?
- DS
2. prader-willi syndrome
What are 2 examples of single-gene disorders?
- tay-sachs
2. muscular dystrophy
What are 3 examples of multifactorial disorders?
- cancer
- spina bifida
- heart disease
Marfans and OI are examples of autosomal ________ single-gene disorders.
dominant
SMA and cystic fibrosis are examples of autosomal _______ single-gene disorders.
recessive
Muscular dystrophy is an example of a ___-______ single-gene disorder
sex-linked
Prader-Willi syndrome is a ______ _____ chromosomal abnormality.
partial deletion