Genetics Flashcards

1
Q

Cerebral Palsy (CP)

A
  • Nonprogressive lesion of the brain occurring prior to 2 yrs of aging
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2
Q

CP may be accompanied by impairment of the:

A
  • MSK system, e.g., hip dislocation and scoliosis
  • Oral motor and GI function, e.g., speech, feeding
  • Sensory disturbances, e.g., vision and hearing
  • Many common comorbidities
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3
Q

Spastic CP

A
  • Most common
  • Velocity dependent resistance to passive stretch
  • Graded by use of the modified Ashworth scale
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4
Q

Forms of CP

A
  • Monoplegia
  • Hemiplegia
  • Diplegia
  • Quadriplegia (tetraplegia)
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5
Q

Ataxic CP

A
  • Incoordination of voluntary movements
  • Poor accuracy, targeting, and grading of movement
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6
Q

Modified Ashworth Scale 0

A

No increase in tone

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7
Q

Modified Ashworth Scale 1

A

slight increase in tone
catch/release at end ROM

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8
Q

Modified Ashworth Scale 1+

A

slight increase in tone
catch/release and resistance through rest ROM (1/2)

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9
Q

Modified Ashworth Scale 2

A

more marked increase in tone through ROM but effected part moved easily

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10
Q

Modified Ashworth Scale 3

A

considerable increase in tone, passive movement difficult

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11
Q

Modified Ashworth Scale 4

A

affected part in rigid flexion and extension

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12
Q

Dyskinetic (Athetoid, Choreoathetoid, and Dystonic)

A
  • Involuntary sustained or intermittent ms contractions resulting in sustained end range postures
  • Involuntary distal writhing movements (athetosis) and poorly graded proximally voluntary movements (chorea)
  • Intelligence rarely affected
  • Hyperactive facial muscles (drooling)
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13
Q

Rigidity

A

Lead-pipe quality to the resistance to passive stretch

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14
Q

5 level system

A

Child walk with no limitations
Child walk with limitations
Child walk using handheld mobility device
Self mobility with limitations
Transported in wheel chair

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15
Q

CP can be caused by

A
  • Exposure to radiation and infection during fetal development
  • Hypoxia
  • Head trauma or a period of O2 deprivation
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16
Q

CP
Abnormal head circumference Associated with

A

hydrocephalus and microcephaly

17
Q

CP
Associated abnormalities

A

Intellectual disability, learning disabilities, seizure disorders, sensory impairment, B&B, risk for UTI, orthopedic disabilities

18
Q

CP Treatment

A
  • Multidisciplinary
    • Family, PT, OT, ST, MD, RN, special educators, Psycho
  • Pharmaceuticals
    • Baclofen, diazepam, anti seizure
  • Neurosurgery
    • Motor point block, Botox, dorsal rhizotomy
  • Orthopedic surgery
    • E.g., Mm lengthening and bony procedures
19
Q

Mild CP Prognosis

A

Resolution with maturity and mild impairment

20
Q

Moderate CP Prognosis

A

limited mobility

21
Q

Severe CP Prognosis

22
Q
  • Ambulation Potential
    • Based on motor milestones
      • Independent sitting before 2
A

positive indicator of ambulation

23
Q

CP Ambulation Potential
If it is going to occur, ambulation takes place by age of

24
Q

Rehabilitation Implications

A
  • Hypotonia
    • Wide based sitting
    • Head lag
    • Decreased reaching and kicking

Postoperative care

Adaptive equipment

ROM

Orthoses

25
Spina Bifida Failure of neural tube closure produces defects
- Common in lumbosacral - Can occur in the sacral, thoracic, and cervical
26
What vitamin deficiency is involved in Spina Bifida?
Folic Acid (B9)
27
Spina Bifida Pathogenesis Day 20 after conception
neural groove is developed
28
Spina Bifida Pathogenesis Day 23
the tube is completely closed except for an opening at each end
29
Spina Bifida Pathogenesis Day 25
Upper end closes
30
Spina Bifida Pathogenesis Day 27
bottom end closes to form the spinal cord
31
When the posterior portion of the neural tube fails to close, lead to
- Cerebrospinal fluid, the meninges or the spinal cord, or both, to bulge out - Degree of dysfunction is related to the anatomic level of the defect
32
Spina Bifida Occulta
Incomplete fusion of the posterior vertebral arch. The spinal cord, meninges, and spinal fluid intact
33
Spina Bifida Occulta Does not protrude visibly but is often accompanied by:
- A depression or dimple in the skin A tuft of dark hair Soft fatty deposits Port‐wine nevi A combination of these abnormalities on the skin at the level of the underlying lesion Does not cause neurological dysfunction Rarely cause bowel and bladder disturbances or foot weakness
34
Myelomeningocele Protrusion of the
meninges and SC or cauda equina
35
Myelomeningocele Thoracic Deficit
- No LE movements, strong trunk - HKAFOs, RGO‐(reciprocal gait orthosis) - Wheelchair user, independent in transfer (may require sliding board) - Therapeutic standing and ambulation as children
36
Myelomeningocele High Lumbar Defects (L1-L2)
- Have some hip flexion - KAFOs - Independent in all transfers - Household ambulation with walkers or forearm crutches for short distance - W/C for most mobility
37
Myelomeningocele Low Lumbar Defect (L4-L5)
- KAFOs, crutches, or AFO - Household and community ambulator as children
38
Myelomeningocele Sacral Defects
- Foot and ankle weakness - Usually community ambulator (occasionally with some equipment, e.g., FO)
39
Myelomeningocele Characteristics
- Flaccid (commonly) or spastic paralysis - Delayed automatic (equilibrium) reactions - 90% have normal intelligence (IQ > 80) - Some may have learning disabilities - 90% present with hydrocephalus - Bowel and bladder incontinence - Sensory disturbances usually parallel motor dysfunction - MSK deformities - Scoliosis, hip dysplasia, hip dislocation, clubfoot (talipes equinovarus) - Hip and knee flexion contractures