Peds I: Final: Low Tone

Front 1

Tone

Back 1

Resistance to movt in a mm

Front 2

Causes of low tone

Back 2

Trauma (birth, in utero, after delivery)
Env factors (drugs)
Genetic (chromosomal disorders)
CNS disorders

Front 3

Other symptoms of hypotonia

Back 3

Mobilty and posture
breathing and speech difficulties
Lethargy
ligament and joint laxity
Poor reflexes

Front 4

Does hypotonia affet intellect?

Back 4

No, but it doesn't mean there can't be a cognitive component

Front 5

How may hypotonia present

Back 5

mms feel soft and doughy
Ability to extend limb beyone normal limits
Failure to acquire certain mo. milestones (ie. head control)
Problems feeding (oral control and swallowing)
Shallow breathing (Decreased chest excursion)
Mouth hang open with tongue protruding (under-active gag)

Front 6

Conditions with hypotonia

Back 6

Down syndrome
Spinal muscular atrophy (SMA)
Muscular dystrophy
-Genetic issue that normally presents later in development
Myasthenia Gravis
Congenital cerebellar ataxia

Front 7

Cause of down syndrome
AKA?

Back 7

Extra set of genes leads to overexpressoin (3rd chromosome on 21st gene)
Trisomy 21

No gene has been fully linked with any specific feature of Down Syndrome

Front 8

3 common impairments of Down Syndrome. What gene?

Back 8

MR
Heart defects
Skeletal abnormalities
Each of these are linked to a specific gene, but no gene has been fully linked to nay feature associated with Down Syndrome

Front 9

What is the mosaic expression of Down's?

Back 9

Milder symptoms due to not every cell having the 3rd chromosome
Much higher fxt
2-4% of individuals with Downs

Front 10

Features associated with the Phenotypic features of Downs?

Back 10

Craniofascial shit
Atlanto-axial instability
Diastasis neck
Conductive hearing loss (80%) or sensorineural/mixed hearing loss (20%)
CV (ventricular septal defect, tetralogy of fallot, patent ductus arteriosus)

Front 11

Main systems affected by Downs

Back 11

Craniofacial
MSK/connective tissue
Vision and hearing
CV
GI
Neurologic
Immunologic

Front 12

What is SMA and what causes it?

Back 12

Spinal Muscular Atrophy
Autosomal recessive: gene-survival mo. neuron responsible for protein SMN--SMN protein is impaired d/t problem with SMN gene
Abnormality of ANT horn cells (ALS in adults)
Cell number is reduced and progressive degeneraion of remaining cells = loss of fxt
2nd most common fatal recessive dx after CF

Front 13

4 types of SMA

Back 13

Type I: ACUTE, child-onset. Rapidly progressive & severe hypotonia, supposely death in first year, may be dxed in utero (if dxed in utero than a c-section is indicated)

Type II: CHRONIC, child-onset. Onset 3 mo to 4 years, shortened life span
Type III: JUVENILE. Onset 5-10 yo, slowly progressive with mild imairment
Type IV: ADULT. Few require w/c

Front 14

Nemoline Myopathy

Back 14

MD family (one of 40)
White bars in mm (nemoline rods) are deposited where proteins should be, impairing fxt
Results in low tone

Front 15

Other chromosomal diseases causing low tone

Back 15

Tetrasomy 18p (4 instead of 2 chromosomes on 18th gene)
-Cleft Pallate
-Hypotonia
Chromosome 5 (Same impairments as above)

Front 16

4 general tx categories for low tone children

Back 16

Developmental considerations
Protective considerations (postioning, support)
Education
Mobility

Front 17

What are some developmental considerations to keep in mind with low tone children?

Back 17

Downs and often SMA (especially infant onset) common to have delay
Head control, rolling, sitting improatn
Strengthening befre, during,and after milestones b/c need strength for development (careful of overwork weakness)

Front 18

Protective considerations for Downs

Back 18

Atlantoaxial instabilty
Joint hypermobility (Orthotics are extremely common for DS pts)
Cardiac defects

Front 19

Protective considerations for SMA

Back 19

Respiratory compromise
Scoliosis
Contractures

Front 20

Recommendaions for position and support in Downs

Back 20

Avoid WB head, hyperflex or ext due to instability
Prevent hyperextensibility
Positioning considerations with cardiac issues
Compression good (benik-shorts or theratogs)

Front 21

Recommnedations for position and support for SMA

Back 21

Avoid prone in types I and II (asphyx)
Avoid supine, resp challenge (use sidelying for fxt bc it works on midline training early in development)
Sitting support, customseating, jacket
STander frames
Prevent contractures, splinting

Front 22

What positions to be careful of wth downs and SMA

Back 22

Prolonged spine or prone due to ht defects and respiratory issues
SMA > Downs

Front 23

What should you educate families and caregivers on?

Back 23

General low tone
Prevention injury
Protect joints
Protect respiration (belly binder)
Development and milestones
Enrichment

Front 24

Mobility wiht Downs and SMA

Back 24

Walking common with Downs (maybe not til 2 yo)
Type I never walks, type II rare to walk
ADs, supportive equipment, and w/c often necessary for SMA

Front 25

Equipment ideas for SMA and downs

Back 25

Prone stander
Side-lyer positioner
Tilt in space w/c
supne stander
aye walker

Front 26

What can theratogs help with

Back 26

Core stability
Postural control assistance
Control hip alignment with straps