Case 10: Down Syndrome

Question 1

What is down syndrome?

Answer 1

Most common chromosomal abnormality characterized by three copies of the 21st chromosome

• causes intellectual disability

Question 2

What is HYPOTHYROIDISM?

Answer 2

Condition in which the thyroid gland does not produce enough thyroid hormone

Question 3

What is IDEA Part C?

Answer 3

Individuals with Disabilities Education Improvement Act Part C

• Federal law that provides financial aid to state for early intervention programs to meet developmental needs of children with disabilities

Question 4

What is thyroxine?

Answer 4

Synthetic thyroid hormone replacement use to treat hypothyroidism

Question 5

What is Ranitidine?

Answer 5

Histamine H2-receptor antagonist that inhibits stomach acid production and is commonly used to treat GERD.

Question 6

ventricular Septal defect

Answer 6

hole in wall that separates the lower chambers of the heart

Question 7

Precautions during PT for children with down syndrome

Answer 7

• protect joints form extreme ROM (d/t hypotonia and ligamentous laxity)
• observe for S&S of AA instability
• observe for signs of inadequate mgmt of thyroid & cardiopulmonary comorbidities

Question 8

Complications during PT

Answer 8

• behavioral challenges d/t young age and intellectual disability
• OA instability (potentially devastating if not identified and treated

Question 9

PT POC and goals

Answer 9

• improve motor control to achieve motor milestones
• focus on pulling to stand -> standing -> Independent ambulation
• caregiver education to facilitate motor development at home
• monitor LE alignment and need for orthoses

Question 10

PT interventions

Answer 10

• Caregiver education to create environment for ind. exploration and gross motor play
• strengthening in the form of play
• assisted ambulation
• evaluation for orthoses

Question 11

Down syndrome AKA

Answer 11

Trisomy 21

Question 12

t/f: incident of DS increases with increasing maternal age.

Answer 12

TRUE

(20 y.o. women - incidence is 1/2000 but
40 y.o. women - incidence is 1/100)

Question 13

t/f: the diagnosis of DS can be made prenatally as early as the first trimester.

Answer 13

True

Question 14

Children with DS show delayed development of postural control that is most affected by:

a. hydrocephalus
b. smaller than normal cerebellum
c. visual impairment
d. tendency toward obesity

Answer 14

smaller than normal cerebellum

Question 15

Which of the following has been shown to help a young child with DS learn to walk independently earlier?

a. supramalleolar orthoses
b. early intervention programming
c. treadmill training
d. aquatic therapy

Answer 15

treadmill training

Question 16

Poor activity tolerance, as evidenced by the child’s refusal to participate in active play for more than a few minutes, could be a symptom of inadequate management of:

a. hypothyroidism
b. visual deficits
c. gastroesophageal reflux
d. postural control deficits

Answer 16

hypothyroidism

Question 17

What standardized developmental assessment tool has been specifically validated for children with DS?

Answer 17

GROSS MOTOR FUNCTION MEASURE (GMFM)

Question 18

What are other standardized tests are appropriate for this population?

Answer 18

• Peabody Developmental Motor Scales 2 ed. (PDMS-2)
• Bayley Scales of Infant Development (this is the gold standard for this population)

Question 19

What orthoses helps children with DS to improve gait, balance, and gross motor skills?

Answer 19

supramalleolar orthoses

Question 20

what are some possible comorbidities that can occur with DS?

Answer 20

• MSK impairments (hypotonia and ligamentous laxity)
• neurological impairments (reduced brain volume, smaller frontal & temporal areas, smaller cerebellum and smaller hippocampus)
• hypothyroidism
• Congenital heart defects (septal defect)
• Gastrointestinal tract abnormalities
• Skin disorders (eczema, seborrheic dermatitis, hyperkeratosis, and more)
• Seizures
• obstructive sleep apnea
• Behavioral/Mental health disorders (ADHD, autism, oppositional disorder, aggressive behavior
• hearing and/ or visual impairments

Question 21

_______ instability is present in approximately 15% of this population.

Answer 21

ATLANTOAXIAL INSTABILITY