Pediatric Genetic and Non-Genetic Conditions Flashcards
Fragile X syndrome
- Most common inherited
cognitive impairment - X-linked dominant
- mostly male
- Hypotonia, joint
hypermobility, delayed
motor milestones, poor
coordination and motor
planning, seizures,
autistic spectrum
disorder - Face characteristics: elongated facies, large ears, prominent mandible
Prader-Willi syndrome
Prader-Willi syndrome is a genetic disorder usually caused by deletion of a part of chromosome 15 passed down by the father.
- 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 with aging
Angelman syndrome
- Neurodevelopmental
disorder, overall delays - Ataxia, jerky movements,
puppet-like gait - Seizure disorder,
dysmorphic features with
pale blue eyes - Laughing behaviors,
wide, smiling mouth - Typically no expressive
speech
-FEATURES: wide mouth with widely spaced teeth, large tongue, small head, large lower jaw, short and broad skull
Rett syndrome
-males and females present differently
- Progressive
neurodevelopmental disorder - Often develop normally before 6-18 months
- Rapid decline in all areas, min
language, hand wringing and
decreased hand function - 4 stages – last stage in teens,
scoliosis, marked weakness and
decreased mobility - May live to 40’s 50’s
- Early breathing therapy, aquatic therapy, music
*more common in females
Cri-du-chat syndrome
-their cry sounds like a cat scream
- Deletion on chromosome 5
- Deletion paternally derived
- Low birth weight
- Hypotonia
- Low set ears, possible webbing
- Hypertelorism - increased distance between eyes
- Better receptive than expressive language
- May have congenital heart disease
- Cognitive delay
Neurofibromatosis
- Most often noncancerous tumors
(neurofibromas) grow on nerve tissue
(CNS, optic, peripheral nerve sheath)
also producing skin and bone
abnormalities - Multiple café au lait spots
- Skin neurofibromas beginning in puberty
- Verbal and nonverbal learning
disabilities - Deficits in IQ, attention, motor abilities, and executive function
- can be an aesthetic concern
*can be very debilitating depending on where the tumors end up
Williams syndrome
-chromosome 7 is affected - partial deletion of up to 28 genes on chromosome 7
-medical, social, and developmental issues
-low muscle tone, joint laxity
-learning challenges, ADD
-CV disease, CT abnormalities, hypotonia, facial differences
-FACIAL FEATURES: sunken nasal bridge, puffiness around eyes, can see eyelid, blue eyes, long upper lip length (philtrum), small and widely spaced teeth, wide mouth, prominent lower lip, small chin
Klinefelter syndrome
XXY (extra X chromosome)
-less body hair, breast enlargement, extra X chromosome
-high prevalence of heart and blood pressure disease
S/S in adulthood
-low sperm count, small testicles and penis, low sex drive, taller than average height, weak bones, decreased facial and body hair, less muscular compared to other males, enlarged breast tissue, increased belly fat
COMPLICATIONS
-osteoporosis
-heart and blood vessel disease
Example of chromosomal (sex-linked) genetic condition:
Turner syndrome
- 1 of the X chromosomes is missing or partially missing (a condition that affects only females)
SYMPTOMS:
Wide or weblike neck, low set ears,
broad chest with widely space nipples, short stature, slowed growth, cardiac defects
COMPLICATIONS:
* Skeletal problems: higher risk of
scoliosis and kyphosis; osteoporosis
* High BP
* Normal IQ, increased risk of learning disabilities (specifically involving spatial concepts, math, memory, & attention
List of non-genetic conditions affecting children
Fetal alcohol syndrome
Congenital cytomegalovirus
FAS characteristics
TRIAD OF SYMPTOMS
-growth deficiency
-cardiac defects
-CNS disturbance
CNS
-microcephaly
-mental retardation
-dysmorphology
-problems in all domains of adaptive functioning
-balance and coordination problems
FAS facial features- small heads, epicanthal folds, smooth philtrum, thin upper lip, low nasal bridge
PT:
-may require a space clear of auditory and visual clutter
Congenital cytomegalovirus characteristics
-common cause of prenatal infections (type of herpes virus)
-1 in 150 babies born with CMV
-presents like CP, seizure disorder, hearing problems, heart defects
-1/3 women 1st infected during pregnancy will pass to the fetus
-prevention- decrease exposure to the body fluids of a person with an active infection
Conditions associated with hypotonia
-fragile X
-prader willi
-Angelman (ataxia)
-cri du chat
-FAS (high or low tone)
-Williams syndrome
-down syndrome
-work on building innate strength to reduce the effects of hypotonia
PT interventions for many genetic conditions
-limited literature for each specific diagnosis
-follow pt management process to determine ICF level limitations
-consider the natural history of the condition to determine if focus is more on remediation or compensation
-major focus of PT related to hypotonia is gaining muscle stability
Interventions to address hypotonia
-decrease BOS
-progress for sagittal, frontal plane, and rotation
-weight shift to increase unilateral stability
-inc. proprioception with gentle downward sensory input
-2 points of control for posture
-multiple reps!!
