Down Syndrome (Walton)

What is DS?

-genetic disorder that causes lifelong cognitive and developmental delays, other ortho and neuro issues

-moderate to severe problems

-most common genetic cause of learning disabilities

What is the incidence of DS babies in the US?

1 in 700 babies born with DS

Why has there been an increase in babies with DS from 1979 to 2003?

older mothers giving birth

How is COVID and DS related?

increased susceptibility to getting COVID and having lasting respiratory / cardiac problems

-increased cytokine

T or F: Older age in moms and dads is what leads to down syndrome

True

What is the chance of a mom birthing a kid with DS at 35, 40, and 45 yo?

35 = 1/350

40 = 1/100

45 = 1/30

T or F: There is an increased chance of having a baby with DS after having a first one with DS

True

What is the etiology of DS? What causes it?

trisomy of chromosome 21 either inherited from father or mother; 3 chromosomes of 21 instead of just 2

What are the 3 types of down syndrome? What is the percentage of that type?

1. Trisomy 21 nondisjunction (95%)

2. Mosaic Down syndome (1%)

3. Translocation down syndrome (4%)

What are the risk factors for DS?

-advanced maternal and paternal age (mom>35 and dad>40 or <20)

-already had 1 child with DS

-being carriers of genetic translocation for Down syndrome

Which of the following is NOT a risk for DS?

a. mother's advanced age

b. dad's advanced age.

c. having previous kid with DS

d. being carrier for translocation

e. having a fever during pregnancy

f. all the above

e. having fever

How is DS screened / diagnosed before birth?

-blood tests

-sonogram (view of cardiac system can detect a defet in the heart)

-CVS sampling and amniocentesis

What test is almost 100% accurate at determining DS? What is the drawback?

amniocentesis; 1% risk of miscarriage with procedure

How is DS diagnosed at birth?

-variety of gene sequencing tests

-chromosomal test called "karyotype"

--> blood sample from baby

-->trisomy of Hsa21 protein causes dementia & cognitive decline

--> SYRKIA, synapto-janini I & SIM2 causes learning and memory deficits

What are common features of kid with DS?

-facial features (flattened face, small head, short neck, protruding tongue, upward eyes, epicanthal folds corners of eyes, unusually small eyes, flattened nose)

-poor muscle tone

-broad, short hands with single crease in palm

-short fingers, limb

-large space between 1st and 2nd toe

-excessive flexibility

-shorter statue

Developmental milestones occur when in children with DS comparison to others?

they occur at about 2x the age of children without impairment

What are complications with DS?

-congenital cardiac defects

-leukemia

-infectious diseases

-hematologic disorders

Describe how congenital cardiac defects are a complication of DS

-life threatening heart problem

-AVSD 40% of DS

-VSD in 32% of DS

-and others

Young children with DS are how much more likely to develop leukemia?

10x

Why are DS kids more susceptible to infectious diseases?

due to abnormalities in theirr immune system

What hematologic disorders might kids with DS have?

-neutrophilia

-thrombocytopenia

-polycythemia

(lots of bruising, bleeding, clotting issues)

How is dementia related to DS?

-people with DS are likely to develop dementia and early onset alzheimers by age 50-60

-some sx may appear before age 40

-may also have higher rate of seizures

Why do kids with DS have more sleep apnea?

-due to ST and skeletal alterations

-leads to obstruction of airways

T or F: Down syndrome kids are more likely to be obese

True

What type of diet is often recommended for DS kids?

gluten free diet

What GI issues might a DS kid have?

-obstruction

-GERD

-chronic constipation

-diarrhea

-celiac disease

What are neurological issues with DS?

-reduced hippocampus & cerebellum

-decreased gait stability

-increased energy requirement

-new learning & new memory difficulties

-seizures

What are musculoskeletal problems with DS?

-reduced muscle mass

-increased laxity of joints

-delayed and reduced gross motor skills

-decreased bone mass & fx

T or F: The hippocampus, cerebellum, and basal ganglia are affected in DS

False; not the basal ganglia

What are common impairments with DS?

-excessive hypotonia

-gait instability

-laxity

-hyperflexibility

-poor oral motor control (drooling)

-side BOS

-decreased WB overall

-decreased eccentric control

-decreased body awareness

-global delay in motor skills

What are the initial means of communication with DS kids?

sign language

What is the goal of PT for pts with DS?

-develop crucial components necessary for gross motor skills

-develop skills to refine walking in the pre & post walking periods

What should take place during PT exam of DS kid?

-musculoskeletal

--strength, ROM, endurance, posture/structural alignment

--AA and AO joint instability

--scoliosis

--hip

-neuro

--tone, balance, coordination, sensory

-cardiovascular

--CHD, respiratory conditions

-integumentary is usually good

What can be used to assess ROM in DS?

Beighton score of hypermobility

With kids that have AA or AO joint instability, what should be avoided?

-contact sports

-trampoline

-rough play

-diving

-stretching of c/s (torticollis)

What are s&s of an AA or AO instability of slippage? What is treatment?

-hyperreflexia

-muscle weakness

-abnormal gait

-c/o neck pain

-limited neck ROM

tx = spinal fusion

T or F: Kids with DS have more risk for SCFE

True (slipped capitol femoral epiphysis)

What are the knee/LE malalignments that are common in DS?

-genu valgum

-increased lateral tibial torsion

-metatarsus adductus

-pes plano valgus

How is pes planovalgus treated in kids with DS?

-orthotics like SMOs or FOs

-not usually AFOS

What is the most common alignment deficits in children with DS?

pes planovalgus

-severe flat foot

What are PT treatments for pts with DS?

-core control

-proximal stability = distal mobility

-promote active WB and foot orientation (orthotic work)

-include "heavy work" --> pushing & pulling

-strengthen thru play

-treadmill training for gait training

-spio vests, theratogs, knee immobilization, hip helpers, (for increased stability)

-aquatic therapy, hippotherapy

-progress motor skills ASAP