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Pediatrics > L13: Down Syndrome > Flashcards

L13: Down Syndrome Flashcards

1
Q

Down Syndrome Etiology

A
  • Indiv has full or partial copy of Chromosome 21
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2
Q

3 types of Down Syndrome

A
  1. Trisomy 21==MOST COMMON (~95%)
  2. Mosaicism
  3. Translocation
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3
Q

DS is the ______ genetic condition

A

MOST COMMON

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4
Q

Incidence of DS

A
  • MOST Common genetic condition
  • Women >35yo == inc chance of having child w/ DS
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5
Q

Dx of DS

A
  • Prenatally:
    • Screening methods→ Bloodwork, US
      • Diagnostics→ CVS, amniocentesis
        • 100% accurate***
  • Postnatally:
    • @ birth via characteristics and blood work
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6
Q

Prognosis/Outcomes of DS

A
  • Cog. delays (IQ= 20-60)
  • Life expect raised ~60yo
  • Ortho comps may arise
  • Good outcomes:
    • quality edu. programs
    • good health care
    • positive support
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7
Q

Stereotypical features of DS

Distinct facial appearance

A
  • flattened face, small head/neck/mouth/teeth/ears, protruding tongue, upward slanting eyes, flattened nose, oddly shaped ears, short hands/fingers w/ single crease in palm, large space bw 1st and 2nd toe**
  • Changes in course of development
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8
Q

Changes in course of development of DS

A

see pics

NOTE: 6wks→3mos== Critical stage**

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9
Q

Common Co-Morbs of DS

MOST COMMON?

A
  • Congenital heart defects→ Septal defects most common****
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10
Q

Common Co-Morbs of DS

A
  • Congenital heart defects→ Septal defect most common**
  • Hearing impairments: mild-mod loss of hearing
  • Resp conditions
    • Esp <5yrs→ RSD, common cold can lead to PNA
  • Childhood leukemia→ 20x greater likelihood
  • Thyroid conds, cataracts, obesity >5yrs most children overwt.
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11
Q

Clinical Presentation

What sticks out the MOST??

A

EXCESSIVE HYPOTONIA

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12
Q

CLINICAL PRESENTATION

A
  • Excessive hypOtonia***
  • ligamentous laxity
  • hypERflex
  • Poor oral motor control== drooling
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13
Q

Explain HypOtonia further…

A

Same strength, BUT takes more TIME and FORCE to achieve same mvmt or activity

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14
Q

Another important Clinical presentation…

Fixing/Stacking Tendencies

Explain

A
  • often rely on widening BOS
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15
Q

Hypotonia DOES NOT EQUAL

A

WEAKNESS

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16
Q

Additional Clinical Presentation DS

A
  • Dec desire to WB
  • Dec ecc control (poor strength)
  • Dec body awareness→ low mm tone + poor mm tone receptor
    • **floppy rubberband
  • Poor MSK align.

*ALL IMPAIRS LEAD TO GLOBAL DELAYS

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17
Q

GLOBAL DEVELOPMENTAL DELAYS

Gross Motor Skill Delays

A
  • Most prominent: <24mos and up thru age 5
    • Huge BOOM of activity once walking
    • Will take ~2x the time of typ. child to accomplish same task
      • i.e. sitting by 6mos neurotypical== sitting by 12mos for child w/ DS
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18
Q

Global Delays of Development

Cognitive + Communication

A
  • Cog + communication delays
    • hearing probs
    • mouth/tongue hypOtonia
  • Sign Language== initial means of communication****
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19
Q

Role of PT in DS

Most prominent when?

A

Most prominent in early childhood w/ a great deal of therapies occurring before age 3

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20
Q

Role of PT in DS

A
  • most prominent early childhood
  • PT intermittently t/o childhood/ado.
    • Monitor for ortho co-morbs, provide Ex-Rx for fitness, wt loss in LATE ado.
21
Q

PT Exam for DS

Musculoskeletal components:

A
  1. Strength
  2. ROM
  3. Endurance (muscular)
  4. Posture/structural align.
22
Q

PT Exam: MSK

strength

A
  • MMT NOT reliable until 3 in neurotyp. pop
    • observation of motor skills and qualitative description of mvmt
23
Q

PT Exam: MSK

ROM

A
  • Impaired 2* too much range
  • standard goni
  • Beighton Score of HypERmobility
24
Q

PT exam: MSK

Endurance (muscular)

A
  • Observe for decline in qual of mvmt; how long maintain dev. pos’s
  • Older children:
    • Peds RPE, 6MWT
25
Q

Posture/Structural Alignment

A

Check weighted and unweighted pos’s

26
Q

PT Exam Posture and Alignment Common Findings:

Name all

A
  • *Atlanto-axial/Atlanto-occipital joint instability
  • Scoliosis
  • Hip disloc’s (congenital, SCFE)
  • Knee/Lower Limb Malalignment
27
Q

Posture/Alignment Common Findings:

Atlanto-axial/Atlanto-occipital joint instability***

A
  • 10-20% of pop w/ DS
  • Incd laxity of the transverse ligs of upper CS
  • Careful/Avoid:
    • contact sports, trampoline, rough play, diving, stretching C/S (torticollis)
      • Make sure they get x-ray to ensure they do not have instability prior to Tx
28
Q

Symptoms of AA/AO Instability or Slippage

A
  • HypERreflexia
    • +Babinksi
    • Ankle clonus
  • MM weakness
  • Abnorm gait
  • C/O neck pain
  • Limtd neck ROM

Tx== spinal fusion

29
Q

Posture/Alignment findings:

Scoliosis/Hip Conds

A
  • Scoliosis
    • pre-teens
  • Hip Cond’s
    • congenital disloc’s
    • Slipped Capitol Femoral Epiphysis (SCFE)
30
Q

Posture/Alignment findings

Knee/Lower limb mal-alignment

A
  • Knee vaLgum
  • Inc LAT tibial torsion
  • Metatarsus ADDuctus
  • Pes Planovalgus
    • severe flat foot→ tx w/ orthotics
      • typ. SMO or FO recommended
        • Sure Steps==MOST COMMON***
31
Q

Pes PlanovaLgus

A
  • One of the MOST COMMON alignment deficits in children w/ DS*******
32
Q

PT Exam: Neurologic

A
  • MM tone:
    • min-mod-severe
  • Balance:
    • observe
    • perturbations
  • Coordination:
    • DESCRIBE mvmts
  • Sensory:
    • Proprio/body awareness
33
Q

PT Exam: Cardiovascular

A
  • Note h/o congenital heart/resp cond’s
  • OLDER KIDS:
    • Peds RPE, 6MW

Integumentary not typ. impaired***

34
Q

PT Treatments:

what do you HAVE to REMEMBER?

A
  • PRECAUTIONS!!!
    • Cardiac hx
    • AI/AO instability*****
35
Q

PT Tx

A
  • Precautions***
    • cardiac hx
    • AI/AO instability***
  • Stress core control; Theraball!!!!
    • Prox stability==Distal mobility
  • WBing, foot orienting
  • Heavy work**
    • push/pull
  • Strengthening thru play/pos’ing
  • TM training→ effective for dev. of gait in DS****
  • Spio vests, Theratogs, knee immobs, hip helpers
  • aquatic/hippo
  • Ultimately work to progress motor skills ASAP!!!
36
Q

Add’l Genetic Syndromes:

Cri-Du-Chat

A
  • Hallmark cry***→ 2* to structural laryngeal abnormality****
  • Associated w/:
    • LBW
    • FTT
    • *HYPOTONIA—–common theme
    • Low IQ
    • sound sensitivity
    • chronic sleep probs
37
Q

Add’l Genetic Syndromes:

Prader Willi

A
  • From father
  • Characteristics:
    • diminished fetal activity, resp/feeding diffs, HypOtonia***, global delays motor/speech, ambulation age 2 w/ delays up to 2yrs, small genitalia/hands/feet, short stature, scoliosis
    • Hyperphagia== Excess. eating/insatiable appetite→ body does not tell them when full****
38
Q

Add’l Genetic Syndromes:

Angelman Syndrome

A
  • From father
  • Neurodev. disorder
  • Typically smiling (Happy Puppet Syndrome***)
  • Severe learning diffs, Sz, poor sleep, ataxia/coord probs, freq laughter, lip smacking and hand flipping***
39
Q

Add’l Genetic Syndromes:

William’s Syndrome

A
  • == Deletion on long arm of chromosome 7
    • CV dis. 2* elastin arteriopathy
    • GI issues
    • Elf-like features
    • learning disabilities and ADHD however lang. VERY strong
      • talkative
    • musical
    • PT issues:
      • poor vision, HYPOTONIA/Jt Laxity (like DS)
40
Q

Add’l Genetic Syndromes:

Single Gene Disorders

Neurofibramatosis→

A
  • Autosomal dominant
  • Neurofibromin→ PRO controls cell proliferation and acts as tumor suppressant == affected resulting in multiple tumor sites t/o body
  • 2 types→ 1 and 2
41
Q

NF Type 1:

A
  • Tumor growth in CNS, optic areas, peripheral nerve sheath, skeleton
    • Typ benign
    • Café au lait spots→ coffee stains
    • Larger corpus callosum== diffs learning, HYPOTONIA, dec motor perform.
42
Q

NF Type 2:

MORE SEVERE

A
  • MORE SEVERE
  • CNS tumors
  • dec life expect.
  • acoustic neuromas→ vestib issues
  • Tx depends on severity
    • monitor, sx, radiation/chemo
43
Q

Add’l Genetic Syndromes:

Fragile X Syndrome

A
  • X-linked dominant
    • MOST COMMON COG IMPAIRMENT
  • Face:
    • large ears, prominent mandible
  • presents w/:
    • HYPOTONIA**
    • Jt hypERmobility
    • delayed milestones
    • Autism→ MOST COMMON GENETIC LINK
44
Q

most common genetic link to Fragile X

45
Q

Rett Syndrome is _____

A

Progressive ***

46
Q

Add’l Genetic Syndromes:

Rett Syndrome

A
  • Progressive NDD → almost ALWAYS females***
    • Typ dev. until 6-18mos follwed by RAPID regression in motor skills
      • hand skills and hand wringing***
    • finger biting/sucking, tremors, ataxia, Sz, kyphoscoliosis + osteoporosis
    • Life expect= middle age
  • Aggressive PT reqd to preserve function/alignment
47
Q

PT Tx and Considerations for Children w/ Genetic Disorders

COMMON THEME????

A

HypOtonia

HypERmobility

Cog Delays

48
Q

PT Tx and Considerations for Children w/ Genetic Disorders

A
  • Common theme==> LOW mm tone and hypERmobility
    • → improve strength, dynamic jt stability, ROM, posture/align, proprio
    • Keep tasks simple, functional, and purposeful w/ clear VCs
      • Ex.
        • CC glute acts→ squat play
        • Theraball→ core
        • Proprio
        • Orthotics→ SMO
        • Wtd cart
        • Theratog/spio
        • Hippotx
        • Aquatics

Pediatrics (27 decks)

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