genetic medical conditions

Question 1

what is fragile x syndrome

Answer 1

-most common inheried cognitive impairment
-X linked dominant, mostly male
-hypotonia, joint hypermobility
-delayed motor milestones, poor coordination and motor planning
-seizures
-autistic spectrum disorder

elongated face, large ears, prominent mandible

Question 2

describe prader-willi syndrome

Answer 2

-early failure to thrive
-hypotonia
-delayed milestones
-short stature, small hands and feet
-leading genetic cause of obesity
-hypothalamic disturbance in satiety center
-excessive eating unless externally controlled
-low normal to moderate MR
-high incidence of scoliosis w aging

Question 3

describe angelman syndrome

Answer 3

-neurodevelopmental disorder, overall delays
-ataxia, jerky movements, puppet like gait
-seizure disorder
-laughing behaviors
-typically no expressive speech

Question 4

describe rett syndrome

Answer 4

-progressive neurodevelopmental disorder
-normal before 6-18 mo
-rapid decline in all areas, min lagnguage, hand wrining and decreased hand function
-4 stages: last stage in teens, scoliosis, marked weakness and decreased mobility

may live to 40s-50s
early breathing therapy, aquatic therapy, music

Question 5

define cri-du-chat syndrome

Answer 5

deletion of chromosome 5
deletetion paternally derived

-low birth weight
-hypotonia
-low set ears, possible webbing
-hypertelorism
-better receptive than expressive language
-may have congential heart disease
-cog delay

Question 6

define neurofibromatosis

Answer 6

-most often noncancerous tumor grow on nerve tissue also producing skin and bone abnormalities
-multiple cafe au lait spots
-skin neurofibromas begin in puberty
-verbal and nonverbal learning disabilities
-deficits in IQ, attentino, motor ability and exec function

Question 7

define williams syndrome

Answer 7

chromosome 7
-many medical, social, develpomental issues
-low muscle tone, joint laxity
-developmental delay, learning challenges, ADD

Question 8

describe fetal alcohol syndrome

Answer 8

symptoms:
1. growth deficiency
2. cardiac defects
3. CNS disturbance

CNS:
1. microcephaly
2. mental retardation
3. problems in all domains of adaptive functionining
4. balance and coordination problems

Question 9

what are the physical characteristics of FAS

Answer 9

-small head
-epicantal folds, small eyes openings
-smooth philtrum, thin upper lip
-low nasal bridge

Question 10

describe congenital cytomegalovirus

Answer 10

not genetic
-common cause of prenatal infections, a herpes virus
-1 in 150 babies born with it
-present like CP, seizure disorder, heaing problems heart defects
-prevent by decrease exposure to body fluids of person with infection
-1/3 women 1st infected during pregnancy wil pass to fetus

Question 11

which conditions are associated with hypotonia?

Answer 11

1. fragile X
2. prader-willi
3. angelman
4. cri du chat
5. fetal alcohol
6. williams
7. down

Question 12

how can we address hypotonia?

Answer 12

-decrease base of support
-progress for sagittal, front plane and rotation
-weight shift to increase stability
-increase proprioception with sensory input
-use 2 points of control for posture
-lots of reps

Question 13

what are seizures vagus nerve stimulator

Answer 13

-implanted under skin near clavical, activated with handheld magnetic device
-reduces frequency of partial seizures, after 12 months decrease 1/2
-most often used with antipileptic medications

Question 14

what can keto be used to treat

Answer 14

refractory epilepsy in kids

if followed stricly, may prevent seizures in 1/3 kids