Term
| prs of chromosomes in human somatic cell |
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Definition
23 prs (46 total)
(22 autosomal prs, 1 sex pr) |
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Term
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Definition
| specific length of DNA coding for specific protein |
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Term
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Definition
| gene's location on chromosome |
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Term
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Definition
| specific DNA sequences on a gene |
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Term
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Definition
| same allele on chromosome pr (e.g. BB) |
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Term
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Definition
| different alleles on chromosome pr (e.g. Bb) |
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Term
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Definition
| 2 alleles (in diploid humans) |
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Term
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Definition
| physical/physiological **manifestation** of genotype |
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Term
| Pediatric Genetic Disorders - categories (3) |
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Definition
genetic mutations
chromosomal disorders
single gene disorders |
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Term
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Definition
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Term
| Example of disorder involving duplication of a gene |
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Definition
| Charcot-Marie Tooth (weak wrists/ankles @ a young age) |
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Term
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Definition
| amino acid change, deletion, insertion |
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Term
| most cases of CF caused by... |
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Definition
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Term
| 50% of 1st trimester miscarriages caused by.. |
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Definition
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Term
| portion of live births involving chromosomal disorders |
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Definition
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Term
| Types of chromosomal disorders (2/4) |
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Definition
Numeric Chromosomal Disorders:
polyploidy
aneuploidy
Structural Chromosomal Disorders
deletion
translocation |
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Term
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Definition
multiple chromosomal SETs
(triploidy = 69 chromosomes; tetraploidy = 92 chromosomes) |
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Term
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Definition
absence/duplication of ONE chromosome
(monosomy, trisomy) |
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Term
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Definition
| form of aneuploidy involving trisomy in meiosis followed by loss of extra chromosome during mitosis |
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Term
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Definition
Edwards Syndrome (trisomy 18)
Patau Syndrome (trisomy 13)
Down Syndrome (trisomy 21) |
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Term
| Down Syndrome: caused by... |
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Definition
| nondisjunction during meiosis (oocytes 'waiting'...?) |
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Term
| Down Syndrome: features (4) |
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Definition
almond shaped eyes
flat facial profile
late fontanelle closure
simian crease |
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Term
| Down Syndrome: associated impairments - neuromuscular (2) |
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Definition
hypotonia
delayed postural rxns/rxn time |
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Term
| Down Syndrome: associated impairments - mmsk (3) |
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Definition
ligt laxity
foot deformities
AA instability |
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Term
| Down Syndrome: associated impairments - cardiopulmonary (1) |
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Definition
| congenital heart disease (e.g. septal defect) |
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Term
| Down Syndrome: PT intervention - infant (3) |
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Definition
positioning
carrying techniques
GMS (poor sucking) |
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Term
| Down Syndrome: PT intervention - child (3) |
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Definition
mm strengthening
incr/maintain respiratory fxn
group ex |
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Term
| Examples of Sex Chromosome Aneuploidy (2) |
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Definition
Turner syndrome
Kleinfelter Syndrome |
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Term
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Definition
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Term
| Turner Syndrome: characteristics (8) |
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Definition
wide neck
broad trunk
heart defects
dysplastic ovaries
**normal intelligence**
motor delay
short stature
osteoporosis (2º to decr estrogen) |
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Term
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Definition
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Term
| Kleinfelter Syndrome: characteristics (3) |
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Definition
(no impairments until puberty)
sterility
**reduced IQ**
learning disabilities |
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Term
| Cri-du-chat (chromosomal deletion): features (7) |
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Definition
low BW
hypotonia
failure to thrive
motor delays
low IQ
microcephaly
specific facial features |
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Term
| Examples of chromosomal micro-deletions (absence of isolated gene) (3) |
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Definition
Williams Syndrome
Angelman Syndrome
Prader-Willi |
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Term
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Definition
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Term
| Williams Syndrome: features (4) |
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Definition
wide grin
poor visuospatial skills
excellent social use of language
auditory memory |
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Term
| Williams Syndrome: PT goals (2) |
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Definition
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Term
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Definition
partial deletion on #15
inherited from mom |
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Term
| Angelman Syndrome: characteristics (8) |
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Definition
happy
hypotonia
pale blue eyes
pale skin
blonde hair
poor expressive speech
higher receptive language
seizures |
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Term
| Angelman Syndrome: PT goals (2) |
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Definition
motor skills
gait training |
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Term
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Definition
| partial deletion of #15; inherited from dad |
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Term
| Prader-Willi: characteristics (6) |
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Definition
feeding difficulties in infancy (unsatiable)
hypotonia
globally delayed
short stature
small hands/feet
early childhood obesity 2º to hyperphagia |
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Term
| Common types of Autosomal DOMINANT disorders (6) |
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Definition
tuberous sclerosis
achondroplasia
osteogenesis imperfecta
Marfan's Syndrome
Huntington disease
myotonic dystrophy |
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Term
| Myotonic dystrophy: types |
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Definition
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Term
| Myotonic dystrophy: Dm1 (5) |
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Definition
early onset
disabling distal weakness
severe cognitive probs
hypotonia
developmental delay |
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Term
| Myotonic dystrophy: Dm2 (7) |
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Definition
childhood or later onset
mm pain
stiffness
fatigue
prox weakness
mm atrophy
GI disorders |
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Term
| Examples of Autosomal RECESSIVE disorders (3) |
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Definition
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Term
| X-linked recessive disorders (2) |
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Definition
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Term
| X-linked dominant disorders (2) |
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Definition
fragile X syndrome
Rett syndrome |
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Term
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Definition
girls only
progressive neurodevelopmental disorder
nml development 6-18m >> rapid regression in motor, language, psychosocial fxn
purposeful hand mvmt replaced with wringing of hands (repetitive mvmt)
infant: hypotonia, poor suck, weak cry |
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Term
| Lissencephaly (sex-linked disorder) = |
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Definition
| "smooth brain" - Ø gyri/sulci |
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Term
| Lissencephaly: characteristics (6) |
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Definition
12-24th wk of gestation
fetal death is common
extremely low tone
failure to hrive
microcephaly
little developmental progress past 3-5m |
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Term
| Autism Spectrum Disorders = |
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Definition
psychological conditions involving abnormalities in
social interactions
communication
specific areas of interest,
highly repetitive behavior |
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Term
| Autism Spectrum Disorders include... (5) |
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Definition
autism
pervasive developmental disorder - not otherwise specified (PDD-NOS)
Asperger's Syndrome
childhood disintegrative disorder
Rett syndrome |
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Term
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Definition
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Term
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Definition
| before 2yo (usually 15-18m dx) |
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Term
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Definition
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Term
| Autism: main characteristics (3) |
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Definition
social ability delay
communication delay
repetitive delay |
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Term
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Definition
| need ≥6 points of delay in three DSM-IV categories (≥2 pts in each category) |
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Term
| Autism DSM-IV: social impairment |
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Definition
- marked impairment in use of nonverbal behavior (no eye contact)
- failure to develop peer relationships at appropriate level
- lack of spontaneous seeking to share enjoyment, interests
- lack of social/emotional reciprocity |
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Term
| Autism DSM-IV: communication impairment |
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Definition
- delay or total lack of spoken language
- inability to sustain conversation with others
- repetitive use of language
- lack of make-believe |
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Term
| Autism DSM-IV: restricted repetitive mvmts, behavior, interests |
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Definition
- encompassing preoccupation c 1+ restricted pattern of interest
- inability to change routine
- repetitive motor manners (flapping)
- preoccupation c parts of objects |
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Term
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Definition
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Term
| Asperger's Syndrome: dx age |
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Definition
4-11 yo
(20% undx in adulthood) |
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Term
| Asperger's Syndrome: characteristics (5) |
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Definition
social delays
repetitive behavior
physical clumsiness
atypical use of language
no language/cognitive delay |
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Term
| Asperger's Syndrome: DSM-V |
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Definition
social interaction impairment
repetitive mvmt |
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Term
| Childhood disintegration disorder: onset |
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Definition
late; >3yo (range 2-10yo)
onset of developmental delays and social regression
apparent NORMAL fxn before regression in skills (children describe hallucinations during regression) |
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Term
| Childhood disintegration disorder: characteristics |
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Definition
decr language skills (expressive/receptive)
decr social/play skills
decr self-care skills (incl bowel/bladder)
decr motor skills
repetitive behavior/interest patterns |
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Term
| Childhood disintegration disorder: PT |
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Definition
motor skills
self care
motor planning |
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Term
| Autism Spectrum Disorder: PT Rx |
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Definition
sensory integration
motor skills
applied behavior analysis (**reward-based** training) |
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Term
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Definition
| rare genetic disease (single point mutation >> unstable point in nuclear envelope) |
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Term
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Definition
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Term
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Definition
limited growth
alopecia
fragile bodies
cardiovascular problems
wrinkling skin
arthritis
loss of body fat |
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