Down syndrome Flashcards
(23 cards)
What is down syndrome
- most common and best known chromosomal disorder in humans
- the most common cause of intellectual disability
- caused by trisomy 21, translocation or mosaicism
incidence of down syndrome
- 1 in 800 live birth
- with 6,000 born each year
What is trisomy 21
- about 95% of the time downsyndrome is caused by this
- the child has 3 copies of chromosome 21 in all cells
- this is caused by abnomral cell division during the development of the sperm cell or the egg cell
What is the common appearance with down syndrome
- slanted eyes
- small ears
- mouth open and protruding tongue (decreased with early intervention)
- short broad hands and foot deformities
- simian crease in hand
susceptibale to ear infections due to small tubes
What is mosaic down syndrome
- rare form of down syndrome < 1%
- children have some cells with an extra copy of chromosome 21
- this mosaic of normal and abnormal cells is caused by abdnormal cell dividion after fertilization
may take a while to dx this
what is translocation down syndrome
- 4% of down syndrome population
- part of chromosome 21 becomes attached before or at conception
- these children have the usual two copies of chromosome 21 plus addditional material from chromosome 21 attached to the translocated chromosome
can be dx prior to birth
what are some common characteristics of down syndrome
Signs
- mild to moderative cognitive impairment
- lack of energy (decreased crying as an infant)
- overall brain weight decreased 76% of normal
- reduction in sulci and decreased myelination between 2months and 6 years
- flattened facial features
- small head
- short height
- tiny white sports on the colored part of the eye (brushfield spots) - some have
What are common comorbidities with down syndrome
- sleep apnea
- obesity
- GI blockage
- thryoid problems
- early menopause
- seizures
- ear infections
- hearing loss
- leukemia
- infectious diseases
- dementia premature (4-5th decade)
- skeletal problems
- poor vision
- skin problems
What are common impairments of down syndrome
- hypermobility
- hypotonia
- decrease strength esp. antigravity
- postural control
- ability to combine and respond to incoming sensory information is decreased impacts drawing copying, mimicking
- auditory processing is weak
- cardiopulmonary problems
what are common postural issues due to hypotonia and ligamentous laxity
- pes planus
- patellar instability
- scoliosis
- hip subluxation
- atlantoaxial instability
- turned out feet
- hyperextension of knees
- standing with pelvis dropped forward
- sitting with rounded back and pelvis
- tilted back
- walking with ER hips
common GI dysfunctions with down syndrome
- malformation of GI tract < 5%
- celiac 5-16%
- constipation is common
- GERD
true or false down syndrome kids have thier own growth chart to be compared to
true
Ophthalmologic dysfunction in children with down syndrome
- refractive errors (corrective lenses needed) 37%
- strabismus 25-57%
- nystagmus 18-22%
- cataracts 5% seen at birth
- occasional glaucoma in children
- first eye exam should be at 6 months then every 2 years
Audiologic impairments
- hearing impairments 38-78%
- most common conductive loss by some cases of sensorineural or mixed
- unilateral or bilateral
- otitis medius common 50-70% (ear infection)
cardiopulmonary defects in down syndrome
- congential heart defects in 35-40% ith AV canal and vetriculospetal defects the most common
- decreased lung volumes
- decreased ability to cough/clear airway
- decreased endurance
Obstructive sleep apnea signs in down syndrome
- 30-75%
- snoring
- apnea events
- test for sleep apnea - not good for development
What functional skills should definitly be worked on in children with down syndrome
- gait: studies involve treadmill
- posture
- intelligence/attention
- developmental delays
- memory
Atlantoaxial instability
down syndrome
- no restriction of activities is necessary
- parents should be counselled about sports, football soccer, and gymnastics
- advise the patient to exercise to maintain an appropriate weight
- children ith C1-C2 instability or subluxation may require specific preclearance to compete in the special olympics
Warning symptoms of AA instability
- pain anywhere along the neck
- a stiff neck which doesnt get better quickly
- usual head posture
- alteration in the way a person walks so they may appear unsteady
- deterioration in a person’s ability to manipulate things with his or her neck
Down syndrome and AA instability: signs of poor neck control
- difficulty holding the head up
- holding the head at an unusual angle
- difficulty nodding or looking up and down and or difficulty turning the head in certain directions
Suspected AA instability in down syndrome
what are the signs and symptoms?
- first motor symptomes or signs may be discovered in the legs
- babinski sign and clonus in the LE
- progressive spasticity in LE
- focal weakness might be an early sign of myelopathy
- torticollis may be a presenting sign
- pain in the Upper cervical spine and occipital area that can extend to the head, eyes, ears and or throat
- only a small percentage of children with radiologic evidence of AAI will become symptomatic
Down syndrome ith PT
- assess quality of movement
- strengthening
- treadmill training
- balance and coordination
- weight monitoring
- endurance training
music with down syndrome
- learns very well using music
- can help strengthen muscles
- develop proper movement patterns and posutre
- expose them to music and rhythm
- increase their endurance
