Peds 4.5 - Pediatric Diagnosis

what is the most common chromosomal cause of intellectual disability?

down syndrome

down syndrome may cause . . .

developmental delays, delayed gross motor milestones

hypotonia, ligamentous laxity, decreased strength and endurance, are all signs of what diagnosis?

down syndrome

down syndrome PT treatment will have what kind of goals?

strengthening, balance/posture, gross motor skill, gait and mobility training

what issue is common in individuals with down syndrome?

atlantoaxial instability

T/F: Passive stretching in a down syndrome patient is ideal for most situations.

F: pts with DS are already hypermobile, so you should avoid reliance on passive stretching

What is juvenile idiopathic arthritis (JIA)?

chronic inflammatory arthritis beginning before the age of 16 with symptoms persisting for equal to or over 6 weeks

joint pain, swelling, decreased ROM, morning stiffness are all signs of what diagnosis?

Juvenile Idiopathic Arthritis

describe the importance of knowing a pt’s flare ups and remissions in JIA

you will need to modify activity based on disease activity

name 2 precautions/special considerations for patients with JAI

avoid aggressive exercise of acutely inflamed joints, what for systematic complications like uveitis

uveitis

eye inflammation

osteogenesis impefecta

genetic disorder affecting type 1 collage, that leads to bone fragility and increased fracture risk

frequent fractures, bone deformities, joint hypermobility and brittle teeth are signs of what diagnosis?

osteogenesis imperfecta

what is a precaution/special consideration for patients with osteogenesis imperfecta?

high fracture risk

what is developmental coordination disorder?

a neurodevelopmental disorder affecting acquisition and excursion of coordinated motor skills

clumsy/awkward movement, poor balance and coordination, difficulty learning new skills, and difficulty with gross motor skills, are all indicative of what diagnosis?

developmental coordination disorder

pt treatment for someone with developmental coordination disorder should include

task specific motor practice, functional skills

developmental coordination disorder often coexists with what other diagnoses?

ADHD, learning disorders, ASD,

What is autism spectrum disorder?

neurodevelopmental condition characterized by differences in social communication/interaction and restricted or repetitive behaviors/interests

sensory considerations, predictable routines, and adaptive communication are all precautions and considerations to take when working with someone with what disorder?

Autism Spectrum Disorder

What is duchenne muscular dystrophy?

X-Linked genetic disorder primarily affecting boys, that causes absence/severe deficiency of dystrophin, which causes progressive mm degeneration and weakness

Gowers Sign, proximal weakness, frequent falls, waddling gait, and calf pseudo hypertrophy are things you might see in a pt with what disease?

duchenne muscular dystrophy

With what disease should you avoid high-resistance and eccentric exercise, or overwork?

duchenne muscular dystrophy

What is Spina Bifida?

neural tube defect resulting from incomplete closure of the spinal cord

spina bifida occulta

small gap in the vertebrae, mild, patch of hair at vertebral level, normally asymptomatic

meningocele

meninges protrude through the vertebral defect forming a sac, but the spinal cord remains in the spinal canal. minimal neurologic impairment

myelomeningocele

the most significant form of spina bifida where the spinal cord leaks into the protruding sack. the functional impairment depends largely on neurologic level

LE weakness/paralysis below lesion, sensory loss, mm imbalance, contractures are all symptoms of what disease?

spina bifida

individuals with spina bifida commonly have a ____ allergy

latex

what are some precautions to take when working with an individual with spina bifida?

skin breakdown (due to impaired sensation), hydrocephalus/chiari II malformation, tethered cord, bowl and bladder dysfunction, possible shunt

what is a main PT goal for individuals with spina bifida?

efficient, independent mobility