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22 Cards in this Set

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trisomy 21
Down Syndrome
Body characteristics:

diagnosed at time of birth

___ crease - all the way across the palm

___ nose/face, ___ eyes, little finger ___ toward other fingers

wide separation between great toe and fist lateral toe, more creases in sole of foot
Simian crease - all the way across the palm

flattened nose/face, upslanting eyes, little finger incurvation toward other fingers
hip subluxation or dislocation

high incidence of hip displasia
majority - low muscle tone (abnormal range) - splayed out, arms and legs feel squishy, not much muscular definition
not as much muscular support in joint, not have normal WB in joint (these form acetabulum - 3 bones come together, over period of time as bone matures - WB forms this)
as a result, acetabulum more flat - risk for subluxation (combined with weakness/low tone)
ok
metatarsus primus varus
no arch, flat foot,
pes planus

low tone
ligaments are lax, don't
pronated at subtalar joint
calcaneus - almost parallel with ground - hard to change this foot, we want inclination of calcaneous - this foot is painful (see radiograph)
can give them inserts, supramalleolar splints for children with low tone that help support position of calcaneus
ok
___ instability

low tone
patella could sublux or dislocate
hypermobility of joints - lax ligaments.

splits
patellar instability
___ scoliosis

more severely involved kids w/ down syndrome
active kids - don't have as much concern for this
thoracolumbar scoliosis
___ instability

can really be a problem
axis has dens
flexing head forward - transverse lig (low tone, ligament lax) that holds the dens = slipping forward of atlas and put pressure on spinal cord = bad

torticollis and downs - before agressive stretching - watch out for this instability

make sure this joint is table - may cause SCI
no tumbling/jumping/hippotherapy if they have this instability
atlanto-axial instability
duedenal stenosis
tissue that grows over the beginning of duodenum and compress it.

probably need surgical intervention

unrelated: acute lymphoblastic leukemia (common sign is bruising)
Clinical Features:

___ muscle tone throughout - affect when start walking

Shorter arms - protective ext, sitting with propped on arms forward (more flexed, less trunk ext) - adapt therapy give them something to prop arm on when sitting

Weakness of trunk musculature

Delayed development-all areas - fine motor, speech, social(not have language with socialization)

Cognitive concerns - can be some mental retardation (varies - able to hold a job, vs not be able to be out in community)

Orthopedic concerns

Self-stimulation - see a lot of this. moving/banging head, repetitive behaviors, swing necklace/keys in front of their face for hours. why? proprioceptive, vestibular, vision feedback

Fatigue/endurance issues - cardiac problems, low motivation to move, low tone
Low muscle tone throughout
Emphasis of Physical Therapy:

Postural stability

Weight bearing/weight shift - b/c they love wide BOS. must use trunk more when decrease BOS

Transitions

Balance reactions
-Righting
-Equilibrium
-Protective reactions (ext - strengthen shoulder girdle)
-Ankle, hip, staggering
ok
Etiology:

One of the most common causes of ___

1 in every 700-1000 live births, with increased incidence occurring with ___ age

91-95% if cases there is an ___ chromosome present on the 21st pair of chromosomes, called Trisomy 21
One of the most common causes of mental retardation

1 in every 700-1000 live births, with increased incidence occurring with advanced maternal age

91-95% if cases there is an extra chromosome present on the 21st pair of chromosomes, called Trisomy 21
Etiology:

3-4% have chromosomal abnormality known as ___ (breakage of 2 non-homologous chromosomes with subsequent reattachment of the broken pieces to other intact chromosome pair

1-4% represent ___ disorders in which some cells within the individual are normal and some are trisomy 21- this occurs after fertilization
Translocation

1-4% represent Mosaic disorders in which some cells within the individual are normal and some are trisomy 21- this occurs after fertilization
Pathology:

Brain weight is ___ than normal (76% smaller), brain stem and cerebellum even smaller (66% of normal)

___ reflex persists

Smaller ___ of brain and more ___ shape
Brain weight is lower than normal (76% smaller), brain stem and cerebellum even smaller (66% of normal)

Plamar grasp reflex persists

Smaller convolutions of brain and more round shape
Pathology:

Pyramidal system neurological abnormalities

Congenital hear defects are very common –AV canal defects and VS defects

___ loss is common (Otitis Media) – frequent ear infections, small ear canals
Hearing loss is common (Otitis Media) – frequent ear infections, small ear canals
Pathology:

___ defects are common (strabismus, nystagmus, cataracts, myopia) – seek stability with their eyes, may not be able to dissociate eyes and head

Higher incidence of ___

Palpebral fissures are characteristically slanted upward and outward and presence of ___ folds at the corners of the eyes
Visual defects are common (strabismus, nystagmus, cataracts, myopia) – seek stability with their eyes, may not be able to dissociate eyes and head

Higher incidence of dimentia

Palpebral fissures are characteristically slanted upward and outward and presence of epicantal folds at the corners of the eyes
Orthopedic problems usually due to ___ and ___ laxity:

Hip subluxation or dislocation
Metarsus primus varus
Pes planus
Patellar instability
Thoracolumbar scoliosis ___%
Atlantoaxial instability 12-30%
-Therapist – high risk of complication if present including dislocation
Orthopedic problems usually due to Hypotonia and ligamentous laxity:

Thoracolumbar scoliosis 52%
Other problems:

Sei___

___ stenosis - narrowing or partial blockage of a portion of the duodenum. This condition can be present at birth or develop later in childhood. Can cause loss of appetite, failure to gain weight, vomiting, a sensation of filling up quickly, or excessive hunger. The condition can also cause a swollen abdomen and colicky, crampy pain. Diagnosed using x-rays when a child presents with symptoms. Require surgery to allow food to pass through the small intestine. Following surgery children are monitored for early risk of leakage at the incision site or obstruction.

Once the risk of complications has passed, most children who have this are monitored less frequently and achieve normal digestive function.

Leukemia
Senile dementia – 25% males develop ___’s(smoother surfaces, fewer convolutions)
Seizures

Duodenal stenosis

Senile dementia – 25% males develop Alzheimer’s(smoother surfaces, fewer convolutions)
Common Findings:

___– major contributor to motor delay

Oral motor problems – looks like ___ is too big for mouth. Low tone – tongue is a muscle (spread out, take more room in mouth, small mandible – often seen out of the mouth)

Feeding problems – difficulty putting lips together

As get older – borderline obese to ___, not an active group
Hypotonia – major contributor to motor delay

Oral motor problems – looks like tongue is too big for mouth. Low tone – tongue is a muscle (spread out, take more room in mouth, small mandible – often seen out of the mouth)

As get older – borderline obese to obese, not an active group
Common Findings:

___ gag reflex may contribute to aspiration or choking
-Poor suck and swallow
-Drooling secondary poor tongue and lip control
-Presence of protrusion reflex of the tongue
-Chewing difficulties
-Xerostomia or fry mouth leading to swallowing difficulties

Feet – increased space between great toe and 1st toe with a crease on the sole of the foot running between them, short toes
Hypoactive gag reflex may contribute to aspiration or choking
Common Findings:

Upper extremity – ___ arms, simian crease (single crease in the palm)

Neck – instability of C-spine

Teeth- __, delayed development, ___mouth (tongue appears large)

90% ___ hernia

Underdeveloped facial bones, facial muscles and small nose

50% of children over 5 y/o have excessive caloric intake and resultant ___
Upper extremity – short arms, simian crease (single crease in the palm)

Teeth- small, delayed development, small mouth (tongue appears large)

90% umbilical hernia

50% of children over 5 y/o have excessive caloric intake and resultant obesity
Parent –client education
Diagnosis is made at birth and confirmed by chromosomal analysis
Parents are confronted early on with the realization that their child may be seriously impaired
They mourn the loss on an expected normal infant. Intervention may begin as early as 2-3 weeks of age
ok