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Neurology PTA 210 > Neuro Final Genetic Disorders > Flashcards

Neuro Final Genetic Disorders Flashcards

1
Q

What is the life expectancy of DownSyndrome (DS)

A

60 (after 40 develop Alzheimer’s )

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2
Q

What are the impairments of Down Syndrome?

A

Hypotonicity
Delayed Developement
Impaired motor control
Poor postural tone
Ligamentous Laxity
Joint Hypermobility
Impaired respiratory system
Impaired exercise tolerance

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3
Q

What are musculoskeletal impairments of Down Syndrome?

A

Pes Planus
Scoliosis
Patellar Dislocation
Atlanto-Axial instability

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4
Q

Signs of Atlanto-Axial Instability

A

Clonus
Babinski
Torticollis
Strength Loss
Sensory Change
Loss of Bowel and Bladder
Decreased Motor Skills

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5
Q

What is Prader-Willi

A

Partial deletion of Chromosome 15 from DAD

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6
Q

What is Angelman Syndrome

A

Partial deletion of Chromosome 15 from MOM

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7
Q

What are the features for Prader-Willi?

A

obesity (hyperphagia)
underdeveloped testes
short stature
hypotonia
mild-mod intellectual disability
maladaptive behavior (temper tantrum, OCD, self harm)
Delayed Motor Milestones
Impaired Respiratory

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8
Q

What are the features of Angelman’s?

A

delayed development
intellectual disability
ataxia
severe speech problems
progressive microcephaly
Happy/Hand Flapping

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9
Q

What is the PT treatment for Angelmans?

A

Ataxia and achievement of motor milestones

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10
Q

What is Arthrogryposis Multiplex Congenita (AMC)

A

Defect of Chromosome 5 or 9
Cause is unknown and is associated with lack of fetal movement
Club foot is common

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11
Q

What is early PT for AMC

A

head and trunk control
functional movements and maintaining ROM

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12
Q

What does the stretching program for infants consist of?

A

Stretching each joint 3-5x, 30 seconds at end range, 3-5 times a day

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13
Q

What is oteogenesis imperfecta?

A

Autosomal dominant disorder effecting collagen synthesis and bone metabolism
“brittle bones”
Average to above average intelligence
Bones bow as child grows
Ligamentous Laxity
Kyphotiscoliosis
Impaired Respiratory

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14
Q

How to treat Osteogenesis Imperfecta?

A

Aquatics
Light strengthening
Padded Surfaces
Proper Alignment
NO PULL TO SIT

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15
Q

What is Cystic Fibrosis?

A

Most lethal genetic disease in caucasions
Defect on chromosome 7
Parents are carriers
Exocrine glands effected
Pancreas doesnt secrete enzymes to break down fat/protein
Respiratory compromise due to thick mucus

Life Expectancy 30-40

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16
Q

PT Treatment for CF?

A

Postural Drainage
Diaphragmatic Breathing
Aerobic exercise to improve lungs capacity

17
Q

Spinal Muscular Atrophy

A

second most fatal to CF
progressive disease of nervous system
autosomal recessive
gene mutation of 5
Progressive deterioration of anterior horn cell in SC
Hypotonia by PNS, Lower Motor Neurons (muscles have little to no innervation weakness and flaccidity)

18
Q

SMA TYPE I

A

leading cause of death in infants and toddlers

19
Q

SMA TYPE II

A

May survive to adolescence

20
Q

SMA TYPE III

A

Normal Expectancy
Motorized WC by adulthood

21
Q

What is the treament focus for SMA?

A

Positioning to promote breathing, posture, functional mobility

22
Q

What is duchennes

A

X linked only in boys
Death by 25
lack genes to produce proteins for muscles
Gower’s Sign
Issues with Cardimyopathy and Respiratory
False hypertrophy of muscle growth

23
Q

What is the treatment for Duchenne’s?

A

Proximal and functional muscle strengthening
AVOID FATIGUE

24
Q

Sensory Integration

A

can be its own disorder or assiciated with autism
May appear as sensory OVERLOAD or not enough sensory

25
Q

Children with sensory integration disorders often operate at what level of the brain?

A

Brainstem level

26
Q

What does histamine do?

A

alerts CNS for more efficient sensory processing

27
Q

What does proprioception do?

A

Wakes up the muscles increasing motor responsitivity, graded motor control, coordination and strength

28
Q

What does serotonin do?

A

Coping chemical that breaks up dopamine to prevent hyperactivity and overprocessing of information resulting in neutral state

29
Q

What does vestibular input do

A

releases histamine to alert cns, increase efficiency of sensory processing of the brain

30
Q

What does over-responsive to sensory info need?

A

predictable, rhythmic slow movement and sound and touch to calm the system

31
Q

What does under-responsive to sensory info need?

A

fast, unpredictable arrythmic and angular inputs

32
Q

What should sensory integration interventions include?

A

Vestibular, Proprioception, Tactile Inputs

33
Q

Tactile Input- Deep touch

A

Calming
Release of dopamine
Parasympathetic
Relaxed, Homeostatic state

34
Q

Tactile Input- Light Touch

A

Alerting
Releases cortisol/adrenaline
sympathetic, fight or flight

35
Q

What happens if there is too much dopamine?

A

may increase hyperactivity
Proprio can help by releasing serotonin to neutralize

Neurology PTA 210 (7 decks)

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