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Pediatrics > Down Syndrome > Flashcards

Down Syndrome Flashcards

1
Q

Down syndrome

A
  • Most common chromosomal abnormality
  • Most common cause of ID in the U.S.
  • Genetic disorder most often resulting from Trisomy 21 (95%)
  • Can have translocation or mosaicism as well
  • Increased risk associated with increasing maternal age over 35 yo
    • Incidence = 1 in 2,000 for 20 yo mom
    • Incidence = 1 in 100 for 40 yo mom
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2
Q

Diagnosis

A
  • Amniocentesis
  • Chorionic villus sampling
  • Alpha fetoprotein screening (not as invasive-takes blood)
    • Assessed in maternal blood at 15-20 weeks GA
    • Also tests for spina bifida
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3
Q

DS Characterized By:

A
  • Reduced brain volume
  • Increased risk of abnormality in almost every organ system
  • GM delays resulting from hypotonia, ligamentous laxity, and reduced brain volume (especially in cerebellum)
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4
Q

DS Physical Appearence

A
  • Small/ strangely shaped ears
  • Increased nuchal skin fold
  • Flat face with upward slant of eye slit
  • Brachycephaly (back part of head smallest)
  • Brushfield spots (white spots on retina)
  • Wide space between toes 1 and 2
  • Small inter-nipple distance
  • Hypotonia ??
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5
Q

Hypotonia (characteristics associated with movement)

A
  • Decreased strength
  • Increased flexibility
  • Hypermobility
  • Decreased activity tolerance
  • Delayed motor skills
  • Leaning on supports
  • Rounded shoulder posture
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6
Q

Developmental Milestones

A
  • Most delayed in GM milestones that require postural control and coordination
    • (walking, running, jumping)
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7
Q

What Limits Participation in DS?

A
  • Cognitive impairment
  • Deficits in expressive language
  • Verbal short-term memory
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8
Q

Patho-anatomical Features

A
  • Musculoskeletal:
    • Hypotonia (reduced resting muscle tone and decreased resistance to passive stretch
    • Ligamentous laxity à joint hypermobility
  • Neurological:
    • reduced brain volume
    • smaller frontal and temporal areas
    • smaller cerebellum (postural control & balance)
    • smaller hippocampus (memory)
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9
Q

Severity

A
  • Mild-mvt patterns similar to typical
    • (sufficient muscle tone, strength, and voluntary motor control to initiate, adapt, and sustain movements during play)
  • Moderate-mvt patterns less efficient than typical but can initiate, adapt and sustain
    • Mvt characterized by excessive motion in some wt. bearing jts, WBOS, decreased balance, and compensatory mvt.
  • Severe-mvt pattern inefficient; frequency of mvt and endurance limited→many compensations
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10
Q

Clinical Presentation- Body Functions and Structures-1° impairment

A
  • Body Functions and Structures-1° impairment
    • Hypotonia and reduced postural tone
    • Ligamentous laxity and joint hyperextensibility
    • Poor postural control and balance
    • decreased strength in hip abductors and knee extensors
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11
Q

Clinical Presentation- Body Functions and Structures- 2°impairments

A
  • Body Functions and Structures- 2°impairments
  • Use of co-contraction as adaptive strategy—may be insufficient
  • Insufficient balance reactions
  • Reduced proprioception
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12
Q

Clinical Presentation- Activity Limitations

A
  • Delayed motor patterns emerge under influence of poor postural control→ compensatory strategies
  • Motor delays-worsen with age; rate of skill acquisition slower that typical
  • Difficulty assuming and holding postures against gravity→poor quality and inefficient mvt
  • Minimal adaptability: only those equilibrium rxns needed to acquire a specific skill
  • Slow and/or inefficient postural responses to external perturbations
  • Difficulty resolving sensory conflict and adapting to changing environmental conditions
  • Postural control deficits in AP and ML directions persistent in adolescents and young adults
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13
Q

Clinical Presentations- Activity Limitations: Gait deficits

A
  • decreased gait velocity and stride length with increased step width
  • Use of conservative strategies when faced with obstacle (crawling vs stepping in toddlers)
  • increased knee flexion at initial contact and through stance due to muscle weakness
  • Poor performance on reaching tasks that require motor planning
  • Sensory integration problems (sensory seeking or low registration of sensory input, tactile sensitivity, auditory filtering problem, low energy, difficulty with transitions)
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14
Q

Physical Activity

A
  • Less physically active across lifespan
    • (NO 60 min/day of mod and 3d/w vigorous)
  • Much less activity than those with ID without DS
  • Kids 11-18 yo with DS with significant decrease in running performance
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15
Q

Participation Restrictions

A
  • decreased ability to keep up with peers in play and recreational opportunities
  • Limited work and recreational opportunities due to unique physical and medical issues

(more of factor with age)

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16
Q

Musculoskeletal Conditions

A
  • Atlanto-occipital instability (AAI)-15% (2%)
    • S&S:
      • neckpain, torticollis, limited neck mvt
      • change in hand function
      • new onset of urinary retention or incontinence
      • Incoordination or clumsiness
      • Sensory impairment
      • Spasticity, hyperreflexia, +Babinski (up to 12-18 months could be normal, UMN lesion after)
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17
Q

AAI

A
  • If symptomatic→ refer to neurosurgeryIf asymptomatic à be aware of any activity that manipulates neck, avoid contact sports, diving, gymnastics
  • Treat all people with DS “at risk” for AAI
  • Special Olympics requires radiographs in order to participate in some sports
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18
Q

Musculoskeletal Conditions- Scoliosis

A
  • Scoliosis- higher incidence than typical
    • Spinal curvature; rib hump with forward bend test (all grade school kids should be screened-especially those with h/o thorocotomy)
    • Bracing does not appear to stop progression
    • Surgical stabilization indicated at same time as idiopathic scoliosis in typical children
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19
Q

Musculoskeletal Conditions- Arthritis (JIA)

A
  • Arthritis (JIA)
    • joint pain/swelling
    • polyarticular and progressive-needs medical management
    • Refer to rheumatologist if unexplained joint pain or limitation of function due to pain in multiple joints
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20
Q

Musculoskeletal Conditions- Hip dislocation/subluxation; slipped capital femoral epiphysis, Perthes

A
  • Hip dislocation/subluxation; slipped capital femoral epiphysis, Perthes (up to 30%)
    • Limp/refusal to walk
    • Hip or knee pain
    • screen hip ROM and symmetry with any change in gait or function
    • Prognosis with SCFE is worse in kids with DS than typical
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21
Q

Musculoskeletal Conditions- Patellar instability

A
  • Patellar instability →
    • frequent falls, limping, pain. Brace if mild, may need surgical correction
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22
Q

Musculoskeletal Conditions- Foot deformities

A
  • Foot deformities like pes planus and hallux valgus are VERY COMMON (overpronation and malalignment).
    • foot pain can limit activity: footwear changes, shoe inserts, orthotics
    • surgery for severe hallux valgus
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23
Q

Comorbidities

A
  • Cognitive impairment/ID
  • Congenital heart defects
  • Gastrointestinal tract abnormalities
  • Thyroid dysfunction
  • Diabetes mellitus
  • Leukemia
  • Osteopenia/osteoporosis
  • Respiratory disorders
  • Skin disorders
  • Seizures
  • Obstructive sleep apnea
  • Behavioral/mental health issues
  • Hearing impairment
  • Visual impairment
  • Cognitive Impairment/Intellectual Disability (ID)—100%
  • IQ range 35-70 (severe/profound is rare)
  • IQ low in infancy and decreases in first decade then plateaus in adolescence

**Cognitive development is highly changeable birthà5yo

24
Q

Intellectual disability

A
  • Characterized by significant limitations in both intellectual functioning and adaptive behavior expressed in conceptual, social, and practical adaptive skills originating before 18yo
  • So, ID defined as an IQ<70 along with issues with adaptive skills, participation, interactions and social roles (in the context of ICF model)
  • Focus on Individual functioning in natural environment
25
Q

Developmental Disability

A
  • Severe, chronic disability attributable to a physical or mental disability that is likely to continue throughout person’s life and results in functional limitations in three or more areas of life activities
  • Difference from AAIDD definition in that there is no IQ requirement and Age of Onset can be up to 22 yo
26
Q

Intellectual or Developmental Disability

A
  • Diagnosis gets you placed in EI, Special Ed, other programs
  • Does not indicate strengths or weaknesses of individual child (don’t have expectations based on “label”)
27
Q

ID

A
  • >350 causes (most common: DS, FAS, Fragile X)
  • Prenatal
    • Chromosomal disorders, genetic syndromes, inborn errors of metabolism, developmental disorders of brain formation, environmental
  • Perinatal
    • Intrauterine disorders, neonatal disorders
  • Postnatal
    • Head injuries, infections, demyelinating, degenerative, seizure disorders, toxic-metabolic, malnutrition, environmental
  • Prematurity alone associated with decreased scores on intellectual tests
  • Kids with intellectual disabilities are at high risk for motor impairments
  • Motor impairments restricting exploration of environment →secondary delays in other domains: independent mobility is an organizer of psychological changes and is linked with growth of brain structures, self awareness, attachment to others, ability to cope with environment
28
Q

Kids with ID

A
  • Capable of learning fewer things
  • Need greater number of repetitions to learn
  • difficulty generalizing skills
  • difficulty maintaining skills if not practiced
  • Slower response times
  • Limited repertoire of responses

Cognitive development is highly changeable birth→5yo

29
Q

Comorbidities: Congenital Heart Defects (CHD)

A
  • Congenital Heart Defects (CHD)
    • 44-58%
    • Ventricular Septal Defect (VSD)
    • Atrial Septal Defect (ASD)
    • Atrioventricular Canal (or atrioventricular septal defect)
    • Mitral Valve prolapse common in adults with DS even if no issues as child
    • Higher risk of pulmonary HTN 2° pulmonary hypoplasia
    • Meds associated with CHD have adverse SEs affecting PT like weakness, fatigue, dehydration, orthostatic hypotension
30
Q

VSD

A

–Oxygen rich blood flows into chamber with oxygen poor blood→back to lungs (too much blood)

–Often close spontaneously by preschool

–Surgical repair at 1yo for large VSD not closing

31
Q

ASD

A

–Failure of septal tissue between atria to form (not PFO)

–Oxygen rich blood flows into chamber with oxygen poor

–Small defects spontaneously close

–Larger defects corrected

-surgically 2-5 yo

32
Q

AVSD

A
  • Seen commonly in kids with Down syndrome
  • Extra blood flows to lungs; Causes pulmonary hypertension
  • Heart overworked and enlarges
  • Surgery in early infancy
33
Q

PDA

A

–Seen also in preemies or maternal rubella

–Communication between aorta and pulmonary artery (extra blood vessel)

–Treated with prostaglandins to encourage closure

34
Q

Comorbidities: GI track anomalies

A
  • (GI) track anomalies
    • Up to 10%
    • Celiac Disease, Duodenal stenosis/atresia, tracheoesphageal fistula, esophageal atresia, imperforate anus, Hirschsprung dz
    • Surgery to correct anatomy
    • Poor nutritional status affects motor and activity tolerance
35
Q

Comorbidities: Thyroid dysfunction

A
  • Thyroid Dysfunction
    • 38-54x higher than in general population
    • Frequency increases with age
    • Leads to weight gain →obesity
    • Fatigue and poor endurance
    • Muscle and joint aches
36
Q

Comorbidities: Diabetes Mellitus

A
  • Diabetes Mellitus
    • Increases risk for type 2 due to tendency toward obesity and large abdominal fat stores
    • Acanthosis nigricans (dark creased areas on skin) is sign of insulin resistance
37
Q

Comorbidities: Leukemia

A
  • Leukemia
    • Acute Myeloid Leukemia (AML)
    • Acute Lymphoblastic Leukemia (ALL)
    • Transient Myeloproliferative Disorder (TMD)
    • Anemia, poor endurance, fatigue affects PT
38
Q

Comorbidities: Osteopenia/Osteoporosis

A
  • Osteopenia/Osteoporosis
    • Increased risk 2° delayed maturation overall, hypotonia, GI anomalies à malabsorption, thyroid dysfunction, anticonvulsant meds
    • Increased risk of fx
    • Stress importance of weight bearing activity in childhood to aid in bone mineral density
39
Q

Comorbidities: Respiratory disorders

A
  • Respiratory Disorders
  • Recurrent wheeze in up to 36%
  • Pulmonary hypoplasia
  • Use good infection control techniques
  • Tends to lead to more and longer hospitalizations
40
Q

Comorbidities: Skin disorders

A
  • Skin Disorders—87%
    • Eczema
    • Palmoplanar hyperkeratosis
    • Seborrhoeic dermatitis
    • Can cause discomfort with handling and orthoses
41
Q

Comorbidities: Seizures/Epilepsy

A
  • Seizures/Epilepsy 6-8%
    • Anticonvulsant meds affect cognitive/motor function
42
Q

Comorbidities: Obstructive sleep apnea

A
  • Obstructive seep apnea 57%(3yo)
    • Irritability and fatigue, behavioral changes affect PT
43
Q

Comorbidities: Behavioral/mental health issues

A
  • Behavioral/mental health issues 18-38%
    • ADHD
    • Conduct/oppositional disorder
    • Aggressive behavior
    • Autism
    • Simplify instructions/use repetition
    • 100% of adults with DS >35yo have neuropathological features of Alzheimer dz
44
Q

Comorbidities: Hearing

A
  • Hearing (up to 78%)
    • Conductive
    • Sensorineural
    • Mixed
    • Common: ear tubes, Tonsillectomy, adenoidectomy, hearing aids, cochlear implants, sign language, AAC
    • Make eye contact, speak slowly, use visual aids
45
Q

Comorbidities: Vision

A
  • Vision (up to 80%)
    • Refractive errors
    • Strabismus
    • Nystagmus
    • Use corrective lens/surgery if needed
    • Use pictures, large print
46
Q

Assessment tools: GMFM

A
  • GMFM
    • Criterion referenced specifically validated for children with DS (88Q)
    • 5 subscales: lying and rolling; sitting; crawling and kneeling; standing; walking, running, jumping
    • Sensitive to small but meaningful changes and IDs if child is delayed compared to expectations for a child with DS through the use of motor growth curves
47
Q

Motor Development

A
  • Motor growth curves (DS) show motor skills improve most rapidly at younger ages and the rate of improvements levels off as child nears upper limit of function
  • Up to 18 months-working on sit and floor mobility
  • 18m-3yo—working on stand alone and walk
  • 3-6yo—working on run, up/down steps, jump
  • All kids with DS need more time to learn skills as the complexity of skill increases
48
Q

Goals of PT intervention

A
  • Enhance rate of acquisition of motor skills
  • Prevent occurrence of secondary problems resulting form compensatory strategies to overcome hypotonia and joint instability
  • Minimize the effect the secondary impairment has on function
  • Improve participation in life activities
49
Q

(timely)Goals/PT Intervention

A
  • Infant/Toddler
    • Postural control, righting and equilibrium rxns
    • Motor milestones ⇒ independent ambulation
  • Preschool
    • Develop/refine posture and balance
    • Higher level motor skills (adv. ambulation)
    • increased physical activity level
  • School-age
    • Refine posture/balance ⇒I access of school, community and environment
    • Weight-bearing for bone health/ increased physical act.
50
Q

Functional outcomes

A
  • Anythingof high priority and meaningful for child and family
    • Home, school, community, recreation , social activity/participation
  • Age appropriate
51
Q

Hypotonia- characterized by…

A

–Poor head control

–Head lag when pulled to sitting

–Tongue thrust

–Open mouth posture

–Scapular winging

–Genu recurvatum

–Pes planus

–Calcaneal valgus

–Over pronation

–Excessive flexibility (ligamentous laxity)

–Meryon sign: “falling through” sensation when held under axilla

52
Q

PT intervention: Hypotonia

A
  • Stimulate active co-contraction eg cervical flexors and extensors, trunk
  • Strengthen antigravity muscles eg shoulder stabilizers, spinal extensors
  • Prevent use of “split” in transitioning from sitting to quadruped to sitting
53
Q

PT intervention: Facilitate normal motor milestones

A

–Prone on elbows

–Rolling

–Sitting

–Commando crawling on belly

–Transitioning into/out of sitting and quadruped

–Creeping on hands and knees

–Pulling to standing

–Standing (supported)

–Lowering self to sitting

–Cruising

–Standing independently

–Ambulating using push cart

–Ambulating with 1-2 hands held

–Taking steps independently

–Ambulating independently

54
Q

PT interventions: Exercise

A
  • Strengthening
    • Progressive resistive exercises vs. circuit training
  • Postural Control
    • Change task conditions-use unstable surface
    • Train on therapy balls, pillow with neutral pelvis then move E’s

[avoid hyperextension in weight bearing and traction/joint distraction]

  • Treadmill training
    • Start once child can sit alone for 30 seconds or take 6 steps on TM in 1 minute

(Or if able to take 3-6 I steps)

* Suspend child over motorized TM to stimulate stepping * Aerobic Exercise

•For cardiovascular fitness- combo of aerobic and strength training since muscle weakness is a limiting factor

  • Bone mineral density
  • Progressive resistive exercise (use plyometrics, wall push-ups, theraband, medicine balls)
  • Weight bearing activities through growing years
55
Q

Wellness across lifespan

A
  • Life expectancy ~60 (depends on first year with CHD and GI comorbidities)
  • Focus on obesity prevention
  • 50% overweight by early childhood
  • Appropriate exercise program-screen for cardiac and musculoskeletal issues
  • Community involvement
  • Special Olympics-FUNfitness: community based opportunity to promote fitness for individuals with DS

Pediatrics (22 decks)

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