Genetic Disorders (Down Syndrome, Fragile X, Autism)

Question 1

Down syndrome is pathologically caused by

Answer 1

Full or partial extra copy of Chromosome 21

Question 2

Life expectancy of Down Syndrome

Answer 2

60 y/o up from 25 y/o in 1983

Question 3

Incidence of Alzheimers in Down Syndrome

Answer 3

90%

Question 4

Musculoskeletal disorders associated w/ Downs Syndrome

Answer 4

diastasis recti, joint hypermobility, shallow acetabular angle (hip dislocation), atlantoaxial or atlanto-occipital instability, patellar instability, foot deformities (pes planus, hallux valgus), Scoliosis

Question 5

Eyes and ears effects of Down Syndrome

Answer 5

myopia (near sighted), nystagmus, strabismus(cross eyed or pointing in diff directions, tear duct blockage, conductive hearing loss

Question 6

Cardiovascular effects of Down Syndrome

Answer 6

Ventricular septal defects, patent ductus arteriosus, tetralogy of fallot

Question 7

Neurological effects of Down Syndrome

Answer 7

Microcephaly, hypotonia, cognitive disability, developmental delay, small cerebellum and brain stem

Question 8

Atlantoaxial instability signs and symptoms

Answer 8

2% symptomatic, 15% prevalence
Easy fatiguability, difficulty in walking, abnormal gait/gait change, neck pain, limited neck mobility, change in hand function, new onset urinary retention or incontinence, incoordination or clumsiness, sensory impairments, spasticity, positive Babinski

Question 9

Gait associated w/ Down Syndrome

Answer 9

Decreased velocity
Decreased Stride length
Increase in step width
Increased pronation

Question 10

Down Syndrome Delayed Milestones chart

Question 11

Common conditions of adult Down Syndrome
(Pick 6)

Answer 11

1 Early cataracts
2 Conductive hearing loss
3 Hypothyroidism
4 Obstructive Sleep Apnea
5Osteoarthritis and Osteoporosis
6Alzheimer’s Disease or Developmental Dementia

Question 12

Amyloid Precursor Protein Gene

Answer 12

Causes accelerated aging in those with Down Syndrome up to 20 years faster

Question 13

Fragile X syndrome
S and S pick 6

Answer 13

X linked dominant disease
1 Elongated face with large ears and prominent mandible
2 Hypermobile Elbow, wrist, and fingers
3 Abnormal Gaze/ Autistic behaviors
4 Autism
5 Hyperactive
6 Anxiety

Question 14

Other names of Autism Spectrum Disorders

Answer 14

Asperger
Rett syndrome
Childhood Disintegrative Disorder
Pervasive Developmental Disorder

Question 15

Causes of Autism pick 2

Answer 15

1 Idiopathic, 80% hereditary
2 Secondary
Genetic: Fragile X, Down Syndrome
Fetal Teratogens: Medications, alcohol,

Question 16

T or F
Females are more likely to be diagnosed with Autism

Answer 16

F: Males are 4-5x more likely to be diagnosed with Autism

Question 17

Autism vs ADHD similarities: Pick 5

Answer 17

Focus
Impulsive
Communication difficulties
School work difficulties
Relationship difficulties

Question 18

ADHD and ASD differences

Answer 18

ASD Hyperfocus, ADHD can’t focus
Less Social awareness w/ ASD
ADHD talks more
Repetition (ASD likes, ADHD dislikes)

Question 19

Anatomical(Brain) locations of abnormality in ASD

Answer 19

Less mirror neurons
Thalamus, Hypothalamus
Brainstem
Basal Ganglia
Cerebellum

Question 20

Red Flags for ASD

Answer 20

12 months: No response to name
14 months: Does not point to objects to show interest
18 months: Does not pretend play

Question 21

Head banging in Autism could indicate

Answer 21

Headache
Tooth ache
Sinus infection
Ear infection

Question 22

Eye Poking in ASD could indicate

Answer 22

Vision Loss
Eye Pain

Question 23

Gum or Tooth Banging ASD

Answer 23

Dental Pain

Question 24

Scratching/ Skin Picking
ASD

Answer 24

Allergy
Eczema
Drug Reaction
Skin infection

Question 25

Fingernail/Toenail Biting or Picking ASD

Answer 25

Pain

Question 26

Kicking/ Stomping ASD

Answer 26

Restless Leg Syndrome Leg Pain

Question 27

Medications prescribed to ASD

Answer 27

SSRIs for anxiety and depression Antipsychotics (May cause weight gain) Seizures Inattention and Hyperactivity- Ritalin, Valium, Lorazepam

Question 28

Age High School provides services until for ASD

Answer 28

22 y/o, after employment is limited...

Question 29

Four Key areas of Pivotal Response Teaching

Answer 29

Motivation Responsivity to multiple cues Self-initiations/social initiations Self- management/empathy

Question 30

Difference between Duchene Muscular Dystrophy and Becker Muscular Dystrophy

Answer 30

DMD is missing Dystrophin BMD is abnormal/misshapen Dystrophin

Question 31

Onset of symptoms for Duchene Muscular Dystrophy

Answer 31

3-5 years

Question 32

Onset of symptoms for BMD

Answer 32

11 years

Question 33

Secondary impairments of muscular dystrophy

Answer 33

Development of contractures Postural malalignment Development of scoliosis Decreased respiratory capacity Cardiac dysfunction Impaired GI motility

Question 34

10MWT and predictions for ambulation in muscular dystrophy

Answer 34

10 meter walk/run time > 9 seconds and inability to rise from floor predict loss of ambulation in 2 years. 10 meter walk/run time > 12 seconds predict loss of ambulation in 1 year.

Question 35

BMD loss of ability to ambulate when

Answer 35

~27 years

Question 36

Initial weakness pattern of muscular dystrophy

Answer 36

neck flexor, abdominal, interscapular, hip extensor, then more generalized weakness.

Question 37

What is Gowers sign? Implication?

Answer 37

Moving from prone to standing by walking hands up knees IMP: DMD age 5 and up

Question 38

Type of exercise to avoid with muscular dystrophy

Answer 38

Eccentric Strengthening

Question 39

Length of time walking/standing recommended for MD

Answer 39

2-3 hours per day

Question 40

DMD loss of ambulation age

Answer 40

10-12 y/o

Question 41

Loss of independent walking examination sign (Stair climbing)

Answer 41

Cessation of independent walking in 2.4 years when it took 5-12 seconds to climb 4 stairs.

Question 42

T or F: BMD cardiac involvement is correlated with loss of function

Answer 42

False, although routine cardiac screening is recommended

Question 43

Endurance training recommendations for MD

Answer 43

65% maximal HR 30 min/day 4x a week