Genetic Disorders (Down Syndrome, Fragile X, Autism) Flashcards
Down syndrome is pathologically caused by
Full or partial extra copy of Chromosome 21
Life expectancy of Down Syndrome
60 y/o up from 25 y/o in 1983
Incidence of Alzheimers in Down Syndrome
90%
Musculoskeletal disorders associated w/ Downs Syndrome
diastasis recti, joint hypermobility, shallow acetabular angle (hip dislocation), atlantoaxial or atlanto-occipital instability, patellar instability, foot deformities (pes planus, hallux valgus), Scoliosis
Eyes and ears effects of Down Syndrome
myopia (near sighted), nystagmus, strabismus(cross eyed or pointing in diff directions, tear duct blockage, conductive hearing loss
Cardiovascular effects of Down Syndrome
Ventricular septal defects, patent ductus arteriosus, tetralogy of fallot
Neurological effects of Down Syndrome
Microcephaly, hypotonia, cognitive disability, developmental delay, small cerebellum and brain stem
Atlantoaxial instability signs and symptoms
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
Gait associated w/ Down Syndrome
Decreased velocity
Decreased Stride length
Increase in step width
Increased pronation
Down Syndrome Delayed Milestones chart
Common conditions of adult Down Syndrome
(Pick 6)
1 Early cataracts
2 Conductive hearing loss
3 Hypothyroidism
4 Obstructive Sleep Apnea
5Osteoarthritis and Osteoporosis
6Alzheimer’s Disease or Developmental Dementia
Amyloid Precursor Protein Gene
Causes accelerated aging in those with Down Syndrome up to 20 years faster
Fragile X syndrome
S and S pick 6
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
Other names of Autism Spectrum Disorders
Asperger
Rett syndrome
Childhood Disintegrative Disorder
Pervasive Developmental Disorder
Causes of Autism pick 2
1 Idiopathic, 80% hereditary
2 Secondary
Genetic: Fragile X, Down Syndrome
Fetal Teratogens: Medications, alcohol,
T or F
Females are more likely to be diagnosed with Autism
F: Males are 4-5x more likely to be diagnosed with Autism
Autism vs ADHD similarities: Pick 5
Focus
Impulsive
Communication difficulties
School work difficulties
Relationship difficulties
ADHD and ASD differences
ASD Hyperfocus, ADHD can’t focus
Less Social awareness w/ ASD
ADHD talks more
Repetition (ASD likes, ADHD dislikes)
Anatomical(Brain) locations of abnormality in ASD
Less mirror neurons
Thalamus, Hypothalamus
Brainstem
Basal Ganglia
Cerebellum
Red Flags for ASD
12 months: No response to name
14 months: Does not point to objects to show interest
18 months: Does not pretend play
Head banging in Autism could indicate
Headache
Tooth ache
Sinus infection
Ear infection
Eye Poking in ASD could indicate
Vision Loss
Eye Pain
Gum or Tooth Banging ASD
Dental Pain
Scratching/ Skin Picking
ASD
Allergy
Eczema
Drug Reaction
Skin infection
Fingernail/Toenail Biting or Picking ASD
Pain
Kicking/ Stomping ASD
Restless Leg Syndrome
Leg Pain
Medications prescribed to ASD
SSRIs for anxiety and depression
Antipsychotics (May cause weight gain)
Seizures
Inattention and Hyperactivity- Ritalin, Valium, Lorazepam
Age High School provides services until for ASD
22 y/o, after employment is limited…
Four Key areas of Pivotal Response Teaching
Motivation
Responsivity to multiple cues
Self-initiations/social initiations
Self- management/empathy
Difference between Duchene Muscular Dystrophy and Becker Muscular Dystrophy
DMD is missing Dystrophin
BMD is abnormal/misshapen Dystrophin
Onset of symptoms for Duchene Muscular Dystrophy
3-5 years
Onset of symptoms for BMD
11 years
Secondary impairments of muscular dystrophy
Development of contractures
Postural malalignment
Development of scoliosis
Decreased respiratory capacity
Cardiac dysfunction
Impaired GI motility
10MWT and predictions for ambulation in muscular dystrophy
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.
BMD loss of ability to ambulate when
~27 years
Initial weakness pattern of muscular dystrophy
neck flexor, abdominal, interscapular, hip extensor, then more generalized weakness.
What is Gowers sign? Implication?
Moving from prone to standing by walking hands up knees
IMP: DMD age 5 and up
Type of exercise to avoid with muscular dystrophy
Eccentric Strengthening
Length of time walking/standing recommended for MD
2-3 hours per day
DMD loss of ambulation age
10-12 y/o
Loss of independent walking examination sign (Stair climbing)
Cessation of independent walking in 2.4 years when it took 5-12 seconds to climb 4 stairs.
T or F: BMD cardiac involvement is correlated with loss of function
False, although routine cardiac screening is recommended
Endurance training recommendations for MD
65% maximal HR
30 min/day
4x a week
