Neuro Final Genetic Disorders

Question 1

What is the life expectancy of DownSyndrome (DS)

Answer 1

60 (after 40 develop Alzheimer’s )

Question 2

What are the impairments of Down Syndrome?

Answer 2

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

Question 3

What are musculoskeletal impairments of Down Syndrome?

Answer 3

Pes Planus
Scoliosis
Patellar Dislocation
Atlanto-Axial instability

Question 4

Signs of Atlanto-Axial Instability

Answer 4

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

Question 5

What is Prader-Willi

Answer 5

Partial deletion of Chromosome 15 from DAD

Question 6

What is Angelman Syndrome

Answer 6

Partial deletion of Chromosome 15 from MOM

Question 7

What are the features for Prader-Willi?

Answer 7

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

Question 8

What are the features of Angelman’s?

Answer 8

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

Question 9

What is the PT treatment for Angelmans?

Answer 9

Ataxia and achievement of motor milestones

Question 10

What is Arthrogryposis Multiplex Congenita (AMC)

Answer 10

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

Question 11

What is early PT for AMC

Answer 11

head and trunk control
functional movements and maintaining ROM

Question 12

What does the stretching program for infants consist of?

Answer 12

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

Question 13

What is oteogenesis imperfecta?

Answer 13

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

Question 14

How to treat Osteogenesis Imperfecta?

Answer 14

Aquatics
Light strengthening
Padded Surfaces
Proper Alignment
NO PULL TO SIT

Question 15

What is Cystic Fibrosis?

Answer 15

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

Question 16

PT Treatment for CF?

Answer 16

Postural Drainage
Diaphragmatic Breathing
Aerobic exercise to improve lungs capacity

Question 17

Spinal Muscular Atrophy

Answer 17

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)

Question 18

SMA TYPE I

Answer 18

leading cause of death in infants and toddlers

Question 19

SMA TYPE II

Answer 19

May survive to adolescence

Question 20

SMA TYPE III

Answer 20

Normal Expectancy
Motorized WC by adulthood

Question 21

What is the treament focus for SMA?

Answer 21

Positioning to promote breathing, posture, functional mobility

Question 22

What is duchennes

Answer 22

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

Question 23

What is the treatment for Duchenne’s?

Answer 23

Proximal and functional muscle strengthening
AVOID FATIGUE

Question 24

Sensory Integration

Answer 24

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

Question 25

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

Answer 25

Brainstem level

Question 26

What does histamine do?

Answer 26

alerts CNS for more efficient sensory processing

Question 27

What does proprioception do?

Answer 27

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

Question 28

What does serotonin do?

Answer 28

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

Question 29

What does vestibular input do

Answer 29

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

Question 30

What does over-responsive to sensory info need?

Answer 30

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

Question 31

What does under-responsive to sensory info need?

Answer 31

fast, unpredictable arrythmic and angular inputs

Question 32

What should sensory integration interventions include?

Answer 32

Vestibular, Proprioception, Tactile Inputs

Question 33

Tactile Input- Deep touch

Answer 33

Calming Release of dopamine Parasympathetic Relaxed, Homeostatic state

Question 34

Tactile Input- Light Touch

Answer 34

Alerting Releases cortisol/adrenaline sympathetic, fight or flight

Question 35

What happens if there is too much dopamine?

Answer 35

may increase hyperactivity Proprio can help by releasing serotonin to neutralize