Neuro Peds - 03 - DS, MMC, DMD, PDD Flashcards
general definition of Down Syndrome:
leading chromosomal cause of mental retardation
most frequently reported birth defect
trisomy 21
extra chromosome
three causes of Down Syndrome are:
trisomy 21 - extra copy on 21
mosaicism - some trisomy 21, some regular
translocation - some bits of c21 are attached in wrong place
incidence of Down Syndrome
1 in 691
more than 400,000 in US
characteristics of Down Syndrome
head - small ears - small neck - extra fold eyes - upward slant, epicanthal folds face - flat joint laxity AAI - between C1 and C2 Congenital Heart Defects - no chambers Impaired Respiratory Functions - due to poor posture
developmental milestones of Down Syndrome
later than for typical developing child
example - walking at 30 months instead of 12
goals of PT for Down Syndrome
Balance Training Strength Training Endurance Training
Decrease the development of abnormal compensatory movement patterns that children with DS are likely to develop
attend to joint laxity
- which means attend to posture, gait
- which means attend to hip, patellar instability, decreased ROM
- which means attend to pes planus, genu recurvatum
What are common sitting postures for a child with Down Syndrome?
due to low tone, child will
- substitute positional stability for muscular stability
- W sit
- prop sit
- exhibit kyphosis, posterior pelvic tilt, head resting on shoulders
- avoid activating trunk to move from prone to sit by moving through widely abducted LE
what about standing postures in Down Syndrome?
due to low tone, child will exhibit
- pes planus
- genu recurvatum
- hip, patellar instability
what about gait patterns in Down Syndrome?
due to ligament laxity and low tone, ''Chaplinesque'' pattern with external rotation of the hips, increased knee flexion and valgus and external rotation of the tibia. flat feet contribute to deviations (vague, ugh) ROM is limited, apparently
what about learning styles of children with Down Syndrome?
takes longer to get it will do what everyone else is doing awesome mimic give them time to process be patient with repetition
general definition of Spina Bifida
the bony defect that occurs when the posterior vertebral arches fail to close in the midline to form a spinous process
three kinds of Spina Bifiida
Spina Bifida Occulta
Spina Bifida Cystica Meningocele
Spina Bifidia Cystica Myelomeningocele or MMC
describe Spina Bifida Occulta
vertebral defect in which posterior elements of the vertebral arch fail to close; no sac; vertebral defect usually not associated with an abnormality of the spinal cord; tuft of hair
describe Spina Bifidia Cystica Meningocele
vertebral defect with a protruding cyst of meninges
cyst containing cerebrospinal fluid and meninges and usually covered with epithelium
clinical symptoms variable
describe MMC (spina bifida cystica myelomeningocele)
- vertebral defect with a protruding cyst of spinal cord and meninges
- cyst containing cerebrospinal fluid, meninges, spinal cord, (and nerve roots)
- cord incompletely formed or malformed
- most common in lumbar area
- higher the lesion, the more deficits
incidence of MMC
1-2 in 1000 births in US
10 in 1000 births in China
if sibling had it, then 2-3% chance of recurrence
1 in 1000 all types neural tube defect
etiology of MMC
mostly don’t really know
genetic predisposition
exposure to alchohol
lack of folic acid
combination, genetic, environmental, nutritional
characteristics of MMC
hydrocephalus - shunts - be vigilant for malfunction Arnold Chiari Malformation scoliosis club foot leg paralysis/parasthesia tethering cord UTIs renal failure hip dislocations/sublux/dysplasia latex allergy - look for alert bracelet osteoporosis - not enough weight bearing obesity autonomic dysreflexia
describe Tethered Cord Syndrome
scarring from surgical repair of the lesion can produce adhesions which may anchor the spinal cord
as child grows, spinal cord is stuck
- This can cause progressive neurologic dysfunction such as motor and sensory function decline, pain, loss of bladder and bowel control, scoliosis, and changes in gait.
describe Arnold Chiari Malformation
- malformation of cerebellum, medulla, cervical bit of spinal cord
- CSF is obstructed, causing build up in the ventricles, leading to hydrocephalus
Spinal Cord Levels and Function
T6-9: Upper trunk functional, LE not functional
T9-T12: Abs + paraspinals, some pelvic control
L1: complete trunk function, weak hip flexors
L2: hip flexors, hip abductors
L3: knee extensors
L4: medial knee flexors, ankle dorsiflexors
L5: hip abductors (weak), lateral knee flexors, ankle invertors, long toe extensors
S1: hip abductors, weak hip extensors, weak plantar flexors
S2: hip extensors, plantar flexors, Toe flexors
general PT for MMC
ROM
Weight bearing
Gait training
note that while PT will seem similar to SCI, these patients are not relearning, they are learning for the first time. body is still developing
Three Stages
First Stage PT Goals for MMC
- birth to ambulation *
1. Prevent secondary complications - (Contractures, deformities, and skin breakdown)
2. Promote age appropriate sensorimotor development
3. Prepare child for ambulation
4. Educate the family about appropriate strategies to manage the child’s condition
What is the most important PT in stage one for MMC?
educate parent how to interact with the child!
First Stage PT for MMC
ROM - to prevent contractures
Casting to stretch foot soft tissues
Adduction Splint - hip dysplasia, legs to neutral
Upright weight bearing with weight shifting - for ambulate
Treadmill training
Skin maintenance
Sensory precautions - tickle to find dead spots
Prone positioning for facilitating head control
Prone on Therapy ball for weight shift and righting reactions
Quadruped for UE strength
Second Stage PT Goals for MMC
- toddler - school years *
1. Ambulation and independent mobility.
2. Continued improvements in flexibility, strength, and endurance.
3. Independence in pressure relief, self-care, and ADL’s.
4. Promotion of ongoing cognitive and social-emotional development.
5. Identification of perceptual problems that may interfere with learning.
6. Collaboration with family, school, and health care providers for total management.
Second Stage MMC PT interventions for Ambulation
12-18 months - parapodium for weight bearing/shifting, UE movement
24-36 months - RGO
36 months - school years - HKAFO and reverse walker
