Term
| The most common chromosomal disorder, occurs 1 in 700 birth |
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Definition
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Term
| 95% of patients have a complete extra chromosome 21, termed trisomy 21, produced usually by maternal meiotic nondisjunction |
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Definition
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Term
| What are the clinical manifestations for a person with Down Syndrome |
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Definition
-Characteristic facial and extremeity profile (Flad and broad nasal bridge, wide spaced eyes, prominent epicanthic skin folds, small, slow-set ears ith prominent antihelix, fissured andd thickened tongue; broad hands and feet, stubby fingers, transverse palmar crease
-Growth and mental retardation
-Increased risk for infection
-Congenital heart defects are common (50%), including septal defects, responsible for the majority of deaths in infancy and childhood
-Ten to twenty fold increased risk of developing leukemia |
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Term
| What are some musculoskeletal or orthopedic problems seen with Down Syndrome? |
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Definition
-Acquired secondary to soft tissue laxity and muscle hypotonia
-Common findings in children: recurrent patellar dislocation, excessive foot pronation, scoliosis, slipped capital femoral epiphysis, and hip dislocation
-Antlantoaxial instability of the cervical spine. This is due to laxity in the transverse ligament of the atlas and/or odontoid maldevelopment. In these pts, activities involving cervical flexion and extension should be avoided
-Mild to moderate ms hypotonia
-Pelvic dysplasia
-Joint hyperextensibility (do to laxity of joint ligaments) |
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Term
| What can occur to ppl with Downs after age 35? |
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Definition
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Term
| What are some secondary disorder that can develop after age 30-35 in pts with Downs? |
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Definition
-Obesity, diabetes, CVD
-Osteoarthritic degeneration of the spine and osteoporosis with vertebral or long bone fractures |
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Term
| Abnormal lateral curvature of the vertebral column |
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Definition
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Term
| Up to 10% of children may present with some degree of scoliosis. Prevalence of adult scoliosis is about __ in US |
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Definition
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Term
| What 2 things is scoliosis often associated with? |
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Definition
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Term
| An anteriorly concave curvature of the vertebral column, such as occurs normally in the thoracic and sacral regions |
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Definition
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Term
| An abnormal convex curvature of the spine, usually lumbar |
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Definition
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Term
| This type of scoliosis is caused by factors other than vertebral involvement such as pain, poor posture, uneven leg length, or muscle spasm induced by a herniated disk or spondylolisthesis. The abnormal curve disappears when the cause is remedied. |
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Definition
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Term
| This type of scoliosis is a fixed curvature associated with vertebral rotation and asymmetry of hte ligamentous support structure. Cause may be ideopathic, congenital, musculoskeletal, neuromuscular, or trauma. |
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Definition
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Term
| How can scoliosis be caused by congenital? |
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Definition
Wedge vertebrae
Hemivertebrae |
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Term
| How can scoliosis be caused by musculoskeletal? |
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Definition
Osteoporosis
Spinal tuberculosis
Rheumatoid Arthritis |
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Term
| How can scoliosis be caused by neuromuscular? |
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Definition
CP
Polio
Myelomeningocele
Muscular Dystrophy |
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Term
| How can scoliosis be caused by trauma? |
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Definition
Fractures
Irradiation
Surgery |
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Term
| What are the clinical manifestations of scoliosis? |
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Definition
Uneven shoulders
Uneven waist
One hip higher than the other
Leaning to one side
One shoulder blade more prominent |
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Term
| How can scoliosis be diagnosed? |
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Definition
-Physical examination
-Scoliometer: device for screening scoliosis
-X-ray of spine: diagnosis, determine the curve angle, help monitor tx decisions |
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Term
| What are some intervention techniques for scoliosis? |
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Definition
-Prevention of postural or idiopathic structural scoliosis
-Screen for early detection and intervention
-PT and exercise
-Spinal bracing
-Surgery |
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Term
| Another term for Kyphoscoliosis? |
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Definition
| Scheuermann (juvenile kyphosis, vertebral epiphysitis) |
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Term
| A deformity in the thoracic or thoracolumbar spine in children. Patients have increased kyphosis in the thoracic or thoracolumbar spine; usually asymptomatic. |
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Definition
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Term
| May present with associated backache and localized changes in the vertebral bodies |
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Definition
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Term
| In the US, the prevalence rate of this is thought to be .4-8%. Boys are affected more often than girls. And it effects children aged 13-16 years, and the diagnosis is rarely made in patients younger than 10 years. |
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Definition
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Term
| What are the clinical manifestations for Kyphoscoliosis? |
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Definition
-Pts with upper thoracic Scheuermann dz present with a kyphotic deformity best demonstrated in the forward flexed position.
-Decreased flexibility of the spine is noted, indicating the structural nature of the kyphotic deformity, in contrast to pts with flexible postural kyphosis
-Pts may have tenderness to palpation above and below the apex of the kyphosis
-A high association exists between the scoliosis and Scheuermann dz. Patients also may have a hyperlordosis in the lumbar spine |
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Term
| This type of kyphosis is localized at the thoracolumbar junctions; in general, any kyphotic deformity present at this level must be considered abnormal |
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Definition
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Term
| Will patients with kyphoscoliosis have hamstring tightness? |
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Definition
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Term
| What type of examination is recommended, although neurologic deficits are extremely rare. |
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Definition
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Term
| How can kyphoscoliosis be diagnosed? |
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Definition
| Lateral radiograph of the spine |
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Term
| HOw can kyphoscoliosis be treated? |
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Definition
-Based on age, severity, and progression of the curve and symptoms
-NSAIDS for pain
-Bracing
-Surgery
-Temporary activity restriction when pain is aggravated |
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Term
| A congential neural tube defect caused by the failure of the fetus's neural tube and spine to close properly, "cleft spine" |
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Definition
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Term
| In what region does spina bifida usually occur? |
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Definition
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Term
| Name the types of spina bifida. |
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Definition
Spina Bifida Occulta
Spina Bifida Meningocele
Spina Bifida Myelomeningocele |
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Term
| Incomplete fusion of hte posterior vertebral arch. No extrusion of meninges. May never be found, or found by incident with x-ray. Dimple or tuft of hair at site may be present. Usually does not cause neurologic dysfunction |
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Definition
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Term
| Sac-like meningal cyst protrudes outside the spine thru the spine cleft. No spinal cord protrusion. Rarely causes neurologic dysfunction. |
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Definition
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Term
| Protrusion of both meninges and spinal cord thru the cleft. Causes permanent neurological impairment. Carries high infection risk. May be accompanied by hydrocephalus, flaccid or spastic paralysis, bowel and bladder incontinence, musculoskeletal deformities, and mental retardation |
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Definition
| Spina Bifida Myelomeningocele |
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Term
| What occurs in 90% of newborns with spina bifida myelomeningocele? |
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Definition
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Term
| What are some of the musculoskeletal deformities present in pts with spina bifida myelomeningocele? |
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Definition
| Scoliosis, hip dysplasia, hip dislocation, clubfoot, hip and knee contractures |
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Term
| An abnormal formation of the hip joint in which the femoral head is not properly positioned or stable in the joint socket (acetabulum). Also known as congenital hip dysplasia or dislocation |
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Definition
| Developmental Dysplasia of the hip (DDH) |
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Term
| What are some statistics for DDH? |
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Definition
-8.6-11.5 per live birth
-85% are females
-25% of cases affect both hips
-75% affects a single hip, of which 75% occurs on the left side |
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Term
| What are some risk factors DDH? |
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Definition
-Obstetric conditions, including breech delivery
-Family history
-Female
-Presence of musculoskeletal deformities such as scoliosis, spina bifida, torticollis
-Others: First pregnancies, multiple fetuses, oligohydramnios, and certain ethnic groups like Native Americans, Laplanders) |
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Term
| DDH occurs in three forms. Name them. |
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Definition
-Unstable hip dysplasia
-Subluxation (incomplete dislocation)
-Complete dislocation |
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Term
| Hip is positioned normally but can be dislocated by manipulation |
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Definition
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Term
| The femoral head remains in contact with the acetabulum, but hte femoral head is partially displaced or uncovered |
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Definition
| Subluxation (incomplete dislocation) |
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Term
| Femoral head is totally outside the acetabulum |
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Definition
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Term
| What are the clinical manifestations for DDH? |
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Definition
-Asymmetries in ROM of hip, especially limitation of hip abduction
-Asymmetry in the buttock or gluteal fold
-Extra thigh skin folds
-Leg length discrepancy
-Ambulatory child may have Trendelenburg gait or waddle gait |
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Term
| A physical examination finding associated with various hip abnormalities (congenital dislocation, hip abductor weakness, rheaumatic arthritis, osteoarthritis) in which the pelvis sags on the side opposite the affected side during single-leg stance on the affected side; during gait, compensation occurs by leaning the torso toward the involved side during stance phase on the affected extremity |
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Definition
| Trendelenburg Gait or Sign |
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Term
| What are the treatment goals for DDH? |
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Definition
To ensure the stability of the femoral head in the acetabulum
-To encourage the development of a normally shaped socket and femoral head |
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Term
| Outcome directly relates to the child's age and initiation of the treatment; dysplasia is completely reversible if the dislocation is corrected in the first few weeks of life. |
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Definition
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Term
| The largest and most common grou of inherited progressive neuromuscular disorders of childhood. |
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Definition
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Term
| A genetic anomaly (mutation of dystrophin gene) results in the lack of or presence of abnormal dystrophin, a protein found in the sarcolemma of normal muscle |
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Definition
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Term
| What are the clinical manifestations for MD? |
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Definition
Muscular weakness
Muscular wasting
Hypotonia |
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Term
| There are 5 major types of MD, in which proximal and distal muscle groups are affected in varying ways. Name the 5. |
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Definition
Duchenne
Becker's
Facioscapulohumeral
Limb-gridle
Myotonic |
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Term
| The most common, severe form of MD |
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Definition
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Term
-X-linked; recessive (only boys will get the dz from a carrier mother)
-Incidence: 20-30 in 100,000 live male births; femal is a carrier (no dz)
-Onset: symptoms become apparent at age 2-4 years; difficulty getting up off the floor; fall frequently; waddling gait; pseudohypertrophy of the calves (fatty and connective tissue accumulate between damages muscle fibers)
-Prognosis: Rapidly progressive; loss of walking by age 9-10 years; death in 20s |
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Definition
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Term
-X-linked; recessive
-Incidence: 5 in 100,000 live male births; female carrier
-Onset: intitial dx at age 5-10
-Prognosis: Slowly progressive; walking maintained past early teens; lifespan until adulthood |
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Definition
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Term
-Autosomal dominant: affecting both genders
-Onset: adolescence
-Prognosis: Slowly progressive; severity varies from mild impairment to los sof walking in later life |
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Definition
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Term
-Autosomal recessive or dominant
-Onset: late adolescence
-Prognosis: slowly progressive; mild impairment |
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Definition
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Term
Autosomal dominant
Onset: variable ages
Prognosis: rate of progression dependent on age of onset |
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Definition
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Term
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Definition
| Clinical presentation; family history; EMG; muscle biopsy; serum enzymes |
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Term
| What is the treatment for MD? |
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Definition
| PT, surgery, assistive devices to prolong function |
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Term
| A neuromuscular dz of progressive weakness and wasting of skeletal muscles resulting from spinal anterior horn cell degeneration |
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Definition
| SMA (Spinal Muscular Atrophy) |
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Term
| Autosomal recessive disorder; Prevalence 1 in 20,000 live births; 1 in 50 for individuals carrying the genetic defect |
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Definition
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Term
| What are the clinical manifestations of SMA? |
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Definition
-Progressive atrophy of skeletal muscles
-Variable degrees of hypotonia
-Weakness and fatigue
-Respiratory problems are common due to intercostal ms weakness
-Feeding problems are common due to bulbar muscle weakness |
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Term
| How can SMA be diagnosed? |
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Definition
| Clinical presentation; EMG; muscle biopsy |
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Term
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Definition
-Symptom management and supportive
-Prevent infection of skin and pneumonia
-Treating orthopedic problems |
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Term
| A unilateral spasmodic contraction of the SCM muscle of the neck. Resulting in the head tilting to the affected side and rotated so that the chin points to the opposite side |
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Definition
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Term
| What are the clinical manifestations of torticollis? |
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Definition
-Lateral head tilt and rotation with chin pointing to the opposite side
-May or may not present a firm, nontender, palpable enlargement of the SCM, or may or may not have fibrotic or shortened SCM
-If the deformity is severe and untreated, the infant will develop cranial asymmetry - plagiocephaly resulting plagiocephaly-torticollis deformation - coexisting torticollis and plagiocephaly |
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Term
Oblique head
Face, ear, and head flatted from resting on affected side |
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Definition
|
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Term
| What are some treatment techniques for torticollis? |
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Definition
-A period of active observation for spontaneous resolution
-PT
-Cervical collar for children over 4 months with head tilt
-Special designed helmet for craniofacial asymmetry correction as needed
-Surgery |
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Term
| What can a PT do for a patient with torticollis? |
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Definition
-PT is a mainstay of tx for torticollis to correct the positional effect
-PROM: to twice daily stretch the shortened SCM; preceded by warm compresses, massage, and slight traction to relax the ms prior to stretching
-Stabilize proximal attachment of SCM and traps during PROM
-Erect and midline positioning
-Active and facilitated AROM |
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Term
| Surgery is rarely needed for torticollis, but if it is, what types of surgery occur? |
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Definition
| SCM tenotomy, plastic surgery for craniofacial asymmetry if patient does not responsd to PT and with continuation of significant motion restriction: >30 degress after 6 months of age |
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Term
| Paralysis of the upper limb resulting from a traction injury to the brachial plexus at birth, resulting from forced stretching of the brachial plexus |
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Definition
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Term
| Incidence: .5-2 per 1000 births; .1% in spontaneous birth; 1.2% in breech; 1.3% in forceps deliveries |
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Definition
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Term
| Name the 3 types of Erb's Palsy |
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Definition
Erb-Duchenne Palsy (95-99%); affecting C5-6 nerve roots
Whole-arm palsy: C5-T1
Klumpke's palsy: C8-T1 |
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Term
| Arm adduction; shoulder IR, lower arm pronation, and fingers flexed - "waiter's tip position"; difficulty with hand-to-mouth, hand-to-head, and hand-to-back-of-neck movements; normal control of wrist and fingers |
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Definition
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Term
| Small muscle paralysis of hand and wrist - claw hand; normal shoulder control |
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Definition
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Term
| Mixed presentation of both Erb's and Klumpke's palsy |
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Definition
|
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Term
| How can Erb's Palsy be diagnosed? |
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Definition
Clinical manifestations
MRI to detect lesion
EMG |
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Term
| How can Erb's palsy be treated? |
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Definition
-Early PT intervention
-Neonatal/pediatric neurosurgery is often required for avulsion repair
-Post-surgery PT |
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Term
| Another term for Osteogenesis imperfecta? |
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Definition
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Term
| Rare congenital disorder of collagen synthesis (mutation of gene coded for type I collagen); Affecting bones and connective tissue |
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Definition
|
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Term
| What are the clinical manifestations of Osteogenesis Imperfecta? |
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Definition
-Abnormal fragility and p lasticity of bone, with recurring fractures from trauma
-Variable associated features include: deformity of long bones, blueness of sclerae, laxity of ligaments |
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Term
| How can osteogenesis imperfecta be treated? |
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Definition
-Orthopedic management
-Fracture prevention
-Fracture care
-PT to prevent bone loss, build bone density, and strengthen muscles |
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