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22 Cards in this Set
- Front
- Back
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trisomy 21
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Down Syndrome
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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 |
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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) |
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metatarsus primus varus
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no arch, flat foot,
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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 |
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___ instability
low tone patella could sublux or dislocate hypermobility of joints - lax ligaments. splits |
patellar instability
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___ scoliosis
more severely involved kids w/ down syndrome active kids - don't have as much concern for this |
thoracolumbar scoliosis
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___ 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
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duedenal stenosis
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tissue that grows over the beginning of duodenum and compress it.
probably need surgical intervention unrelated: acute lymphoblastic leukemia (common sign is bruising) |
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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
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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 |
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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 |
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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 |
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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 |
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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
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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 |
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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% |
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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) |
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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 |
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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
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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 |
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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 |
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