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
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
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)
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 ??
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
6
Q
Developmental Milestones
A
- Most delayed in GM milestones that require postural control and coordination
- (walking, running, jumping)
7
Q
What Limits Participation in DS?
A
- Cognitive impairment
- Deficits in expressive language
- Verbal short-term memory
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)
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
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
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
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
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)
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
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)
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)
- S&S:
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
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
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
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
21
Q
Musculoskeletal Conditions- Patellar instability
A
- Patellar instability →
- frequent falls, limping, pain. Brace if mild, may need surgical correction
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
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
