Neuro Final Genetic Disorders Flashcards
What is the life expectancy of DownSyndrome (DS)
60 (after 40 develop Alzheimer’s )
What are the impairments of Down Syndrome?
Hypotonicity
Delayed Developement
Impaired motor control
Poor postural tone
Ligamentous Laxity
Joint Hypermobility
Impaired respiratory system
Impaired exercise tolerance
What are musculoskeletal impairments of Down Syndrome?
Pes Planus
Scoliosis
Patellar Dislocation
Atlanto-Axial instability
Signs of Atlanto-Axial Instability
Clonus
Babinski
Torticollis
Strength Loss
Sensory Change
Loss of Bowel and Bladder
Decreased Motor Skills
What is Prader-Willi
Partial deletion of Chromosome 15 from DAD
What is Angelman Syndrome
Partial deletion of Chromosome 15 from MOM
What are the features for Prader-Willi?
obesity (hyperphagia)
underdeveloped testes
short stature
hypotonia
mild-mod intellectual disability
maladaptive behavior (temper tantrum, OCD, self harm)
Delayed Motor Milestones
Impaired Respiratory
What are the features of Angelman’s?
delayed development
intellectual disability
ataxia
severe speech problems
progressive microcephaly
Happy/Hand Flapping
What is the PT treatment for Angelmans?
Ataxia and achievement of motor milestones
What is Arthrogryposis Multiplex Congenita (AMC)
Defect of Chromosome 5 or 9
Cause is unknown and is associated with lack of fetal movement
Club foot is common
What is early PT for AMC
head and trunk control
functional movements and maintaining ROM
What does the stretching program for infants consist of?
Stretching each joint 3-5x, 30 seconds at end range, 3-5 times a day
What is oteogenesis imperfecta?
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
How to treat Osteogenesis Imperfecta?
Aquatics
Light strengthening
Padded Surfaces
Proper Alignment
NO PULL TO SIT
What is Cystic Fibrosis?
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
PT Treatment for CF?
Postural Drainage
Diaphragmatic Breathing
Aerobic exercise to improve lungs capacity
Spinal Muscular Atrophy
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)
SMA TYPE I
leading cause of death in infants and toddlers
SMA TYPE II
May survive to adolescence
SMA TYPE III
Normal Expectancy
Motorized WC by adulthood
What is the treament focus for SMA?
Positioning to promote breathing, posture, functional mobility
What is duchennes
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
What is the treatment for Duchenne’s?
Proximal and functional muscle strengthening
AVOID FATIGUE
Sensory Integration
can be its own disorder or assiciated with autism
May appear as sensory OVERLOAD or not enough sensory
Children with sensory integration disorders often operate at what level of the brain?
Brainstem level
What does histamine do?
alerts CNS for more efficient sensory processing
What does proprioception do?
Wakes up the muscles increasing motor responsitivity, graded motor control, coordination and strength
What does serotonin do?
Coping chemical that breaks up dopamine to prevent hyperactivity and overprocessing of information resulting in neutral state
What does vestibular input do
releases histamine to alert cns, increase efficiency of sensory processing of the brain
What does over-responsive to sensory info need?
predictable, rhythmic slow movement and sound and touch to calm the system
What does under-responsive to sensory info need?
fast, unpredictable arrythmic and angular inputs
What should sensory integration interventions include?
Vestibular, Proprioception, Tactile Inputs
Tactile Input- Deep touch
Calming
Release of dopamine
Parasympathetic
Relaxed, Homeostatic state
Tactile Input- Light Touch
Alerting
Releases cortisol/adrenaline
sympathetic, fight or flight
What happens if there is too much dopamine?
may increase hyperactivity
Proprio can help by releasing serotonin to neutralize
