Genetic and Developmental Conditions Flashcards by Lena Walther

_______ = microscopic structures present in the nucleus of each cell which contain all of our genes

chromosomes

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_____ = one of the numbered chromosomes, arranged from largest to smallest

autosomes

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______ = a portion of a chromosome, too small to be seen under a microscope, which encodes a particular function

gene

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_______ = different versions of a gene, located at the same place on a chromosome

allele

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If two alleles are the same they are ______, if they are different they are _______

homozygous; heterozygous

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_______ inheritance = 2 carrier parents

recessive

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_______ inheritance = 1 affected parent, one normal

dominant

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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

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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

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Can boys be carriers if their mother is a carrier of a x - linked genetic abnormality?

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What are 5 specials s/s of those effected with chromosomal abnormalities?

dysmorphic features
growth restrictions
developmental delay
hypotonia
cardiac impairments

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Down syndrome = 3 copies of chromosome ___ in each cell

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What are the 2 possible causes of DS, at the chromosomal level?

nondisjunction

2. translocation

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Is nondisjunction or translocation more common?

nondisjunction (97% of cases)

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_______ = paired copy of a chromosome does not separate at cell division

nondisjunction

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______ = long arm of chr 15, 21, or 22 breaks off and reattaches

translocation

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__% of children with DS will have heart defects

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What 5 brain structures are especially smaller in those with DS?

cerebrum
cerebellum
hippocampus
pons
maxillary bodies

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Atlanto-axial stability should be checked at age ___ for those with DS.

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Prader-Willi syndrome = ______ of chr 15 or defect

deletion (70% of cases)

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Chr 15 genes code for ?

ribonucleoprotein N

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Prader-Willi syndrome may be related to a disturbance in the ________

hypothalamus

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DMD = __-linked disorder

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DMD = mutation of a single gene; ____ fails to produce dystrophin protein

Xp21

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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?

1. physical exam 2. CK levels 3. genetic testing

4 s/s of DMD?

1. calf pseudohypertrophy 2. Gower's sign 3. developmental signs 4. 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?

1. hypotonia | 2. weakness

Is the weakness seen in SMA asymmetric or symmetric? More proximal or distal?

symmetric; proximal

Treatment of SMA?

1. symptomatic/preventative 2. maintain skeletal strength, composition 3. 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

Hemophilia type __ = bleeding disorder characterized by a fact VIII deficiency, resp for approx 80% of cases

Hemophilia type __ = bleeding disorder characterized by factor IX deficiency, responsible for approx 20% of cases

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?

1. spina bifida occulta 2. lipomeningocele 3. meningocele 4. myelomeningocele

3 possible causes of neural tube deficits?

1. genetic predisposition 2. exposure to teratogens 3. 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

___ = a disorder of movement and posture

____ = most common cause of neurological related disability in children

CP: in children with normal birth weight, ___% of disability related to factors occurring BEFORE birth

CP: in children with normal birth weight, ___% of disability related to factors occurring AFTER birth

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

Before __ weeks brain blood flow in the fetus is dependent on peripheral pressure maintained by mothers circualation

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

In perinatal stroke, ______ is often the first sign

seizure

______ in 60% of perinatal strokes

hemiparesis

5 possible risk factors for perinatal stroke?

1. pre-eclampsia 2. intrauterine growth restricition 3. ruptured membranes 4. bleeding 5. diabetes

4 possible causes of perinatal stroke?

1. thrombi from placenta 2. hyper coagulation from genetic prothrombolitic disorder 3. congenital heart disease 4. 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?

1. chromosome abnormalities 2. single-gene disorders 3. multi-factorial disorders 4. mitochondrial disordes

What are 2 examples of chromosomal abnormalities?

1. DS | 2. prader-willi syndrome

What are 2 examples of single-gene disorders?

1. tay-sachs | 2. muscular dystrophy

What are 3 examples of multifactorial disorders?

1. cancer 2. spina bifida 3. 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