Case 10: Down Syndrome (exam 2 - kaylee) Flashcards

1
Q

What is down syndrome?

A

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

  • causes intellectual disability
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2
Q

What is HYPOTHYROIDISM?

A

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

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3
Q

What is IDEA Part C?

A

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
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4
Q

What is thyroxine?

A

Synthetic thyroid hormone replacement use to treat hypothyroidism

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5
Q

What is Ranitidine?

A

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

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6
Q

ventricular Septal defect

A

hole in wall that separates the lower chambers of the heart

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7
Q

Precautions during PT for children with down syndrome

A
  • 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
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8
Q

Complications during PT

A
  • behavioral challenges d/t young age and intellectual disability
  • OA instability (potentially devastating if not identified and treated
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9
Q

PT POC and goals

A
  • 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
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10
Q

PT interventions

A
  • Caregiver education to create environment for ind. exploration and gross motor play
  • strengthening in the form of play
  • assisted ambulation
  • evaluation for orthoses
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11
Q

Down syndrome AKA

A

Trisomy 21

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12
Q

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

A

TRUE

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

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13
Q

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

A

True

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14
Q

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

A

smaller than normal cerebellum

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15
Q

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

A

treadmill training

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16
Q

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

A

hypothyroidism

17
Q

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

A

GROSS MOTOR FUNCTION MEASURE (GMFM)

18
Q

What are other standardized tests are appropriate for this population?

A
  • Peabody Developmental Motor Scales 2 ed. (PDMS-2)
  • Bayley Scales of Infant Development (this is the gold standard for this population)
19
Q

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

A

supramalleolar orthoses

20
Q

what are some possible comorbidities that can occur with DS?

A
  • 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
21
Q

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

A

ATLANTOAXIAL INSTABILITY