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49 Cards in this Set
- Front
- Back
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maternal factors on the risk of disability |
-alcohol related birth defects (fetal alcohol syndrome) -intrauterine infections (STORCH) |
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STORCH |
maternal factors related to disability S: sylphilis T: toxoplasmosis O: other infections R: rubella C: cytomegalovirus infection H: herpes simplex |
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fetal factors at risk of developmental disabilities |
-inborn error of metabolism -chromosomal abnormalities (Down Syndrome) -CHARGE syndrome |
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inborn errors of metabolism |
-tay-sachs -mucopolysaccharidoses 1: hurler syndrome -mucopolysaccaridoses 2: hunter syndrome -sanfilippo syndrome -krabbe disease -lesch-nyhan disease -phenylketonuria (PKU) |
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mucopolysaccharidoses |
error in enzymatic gene that affects multiple systems |
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CHARGE syndrome |
C: coloboma in the eye (hole in eye); CNS abnormailites H: heart defects A: atresia of the chonae R: retardation of growth/development G:genital or urinary defects E: ear anomalies and/or deafness |
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atresia of the chonae |
bilateral chonae atresia is life threatening as babies are obligate nasal breathers |
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tay sachs |
-jewish -progressive results in early death
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krabbe: |
-progressive and terminal life disease, affects multiple systems -intractable seizures which cause further disability |
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phenylketonuria |
inability to break down phenylalaine, build up of this enzyme over time causes problems. should be identified at birth to prevent cognitive disability |
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sanfillipo |
bony protrusions = deformaties |
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hurler syndrome |
one of the few disorders that can be tx; tx is haempoetic cells; kids have CV and respiratory problems as well as a gibbous (thoracolumbar scoliosis) |
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hunter's syndrome |
similar to hurlers, but less severe and no gibbous |
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lesch-nyhan |
self mutilation is hallmark of syndrome; behavior typically displays at 10yo |
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cytomegalo virus |
due to scorch - avoid cat tray for T |
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fetal alcohol syndrome |
most common preventable fetal disorder |
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angelman |
-both are from chromosome 15, if mutation comes from mom you get Angelman. -have a high steppage gait and mild mental retardation |
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Prader will |
from chromosome 15, mutation on the fathers side; hyperphasia |
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Rett syndrome |
-MECP2 gene is responsible; this a disease where the child develops normally, then development plateaus and regresses; -hallmark symptom is that child is saying words and then stops -other s/s include apraxia, seizures which have additional disabling neurological effects, mainly effects women |
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Williams |
-elfin facial features -benefits from early intervention -spinal deformities, scoliosis common |
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autosomal |
non-sex chromosome |
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dominant |
only one gene is needed to cause syndrome |
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recessice |
2 genes needed to cause syndrome |
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x-linked |
recessive disease usually occur in makes; makes have only one x chromosome, a single recessive gene on that chromosome will cause the disease |
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array CGH |
comparative genomic hybridization is used more commonly now than FISH to identify genetic abnormalities, particularly those associated with intellectual impairment |
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genetics of DS |
-occurs when there are 2 copies of 21st choromo -most commonly occuring chromosomal condition -> 400,000 people with DS in US -inc w/ age of mother 80 of kids with DS born to women under 35 years of age |
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DS inc child for what medical conditions |
-congenital heart defects -AAI (kids should be screen 3yr before participating in athletics) -respiratory problems -hearing problems -alzheimers (early onset dementia 40s) -childhood leukemia -thyroid conditions -visual deficits -obesity -small incidence of seizure disorder |
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all children with DS experience _________________ |
cognitive delays, severity of delays ranges |
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common physical traits of DS |
-low muscle tone & hyper flexibity -small stature -delay of motor milestones -upward slant to the eyes - a single deep crease across the center of the palm -reduced strength -slower rxn times with movement - oral and motor feeding delays -gross motor development tends to level off after age 3 |
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life expectancy of DS |
60 years over double since early 1980s |
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language development DS |
-usually poor and below other areas of development when compared with typically developing kids or kids with other causes for intellectual disabilities of the same mental age -impairment of verbal memory skills and other verbal processing abilities -language comprehension is less impaired than expressive language |
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PT for kids w/ DS birth to 3 |
-promote motor and function development -arrange support for parents -prevent compensatory movements -treadmill training at 10mo -promote communication- signing -facil parent child interaction -adapt environments to inc participation -promote early perceptual motor and social skills (eye gaze, jt attention) -coord care with daycare/preschool - |
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PT for kids w/ DS in preschool |
-consult with teachers on integration -consult with parents on the child's rights to be included -need for orthosis? -manual signs? |
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PT for kids with DS school age |
-prevention of problems assoc with aging -coor and consult PE teachers and parents to promote: physical fitness, inclusive activity and social events, life long activities, rules of games and sportsmanship |
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malformation |
a structural defect in an organ or body part b/c of an abnormal develmental process. example: cleft lip, polydacty |
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dysplasia |
the abnormal organization of cells into tissues and the structural consequences. e.g. hemangioma or limb defect |
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deformation |
the alternation in the form shape or position of a normally formed body part by mechanical forces (eg plagiocephally, internal tibial torsion) this typically occurs during the fetal period and not during embryogenesis. this cause can be intrinsic such as weakness associated with muscle disease or extrinsic such as intrauterine constraint |
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syndrome pattern |
patern of mult deformation due to single cause eg DS |
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lissencephally |
smooth cortex |
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dysmorphlogy |
includes: malformation, dysplagia, syndrome and deformation |
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MELAs |
-mitochondiral -encephalomyopathy -lactic -acidosis -stroke
-a progressive neurogenic disorder |
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the BDI is based on |
the concept of developmental milestones of typically developing children
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BDI age range |
birth thru 7years |
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domains and subdomains of the BDI |
-adaptive: self-care, personal responsibility -personal-socail: adult interaction, peer interaction, self concept and social role -communication: receptive communication, expressive communication motor: GM, FM and perceptual motor cognitive: attention and memory, reasoning and academic skills, perception and concepts |
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BDI item scoring |
2= milestone acheived 1=milestone emerging 0= milestone not yet evident |
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BDI basals and ceilings |
-basals are start pt, need 3 twos if can't get them going forward get them going backward. child gets full credit for all items below basal -ceilings test fwd until kid gets 3 zeros |
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Peabody Developmental Motor Scales |
-only assesses motor development -birth to 5yr -norm referenced -45-60 minutes needed for assessment - number of items? -6 subtests divided into 2 quotionts: FM and GM |
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GM quotient (PDMS2) |
-reflexes (0-11mo) -stationary -locomotion -obj manipulation - sn peabody has more depth and detail for gross moter than BDI |
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FM quotient (PDMS2) |
-grasping -visual motor integration |
