L13: Down Syndrome

Question 1

Down Syndrome Etiology

Answer 1

• Indiv has full or partial copy of Chromosome 21

Question 2

3 types of Down Syndrome

Answer 2

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

Question 3

DS is the ______ genetic condition

Answer 3

MOST COMMON

Question 4

Incidence of DS

Answer 4

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

Question 5

Dx of DS

Answer 5

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

Question 6

Prognosis/Outcomes of DS

Answer 6

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

Question 7

Stereotypical features of DS

Distinct facial appearance

Answer 7

• 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

Question 8

Changes in course of development of DS

Answer 8

see pics

NOTE: 6wks→3mos== Critical stage**

Question 9

Common Co-Morbs of DS

MOST COMMON?

Answer 9

• Congenital heart defects→ Septal defects most common****

Question 10

Common Co-Morbs of DS

Answer 10

• 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.

Question 11

Clinical Presentation

What sticks out the MOST??

Answer 11

EXCESSIVE HYPOTONIA

Question 12

CLINICAL PRESENTATION

Answer 12

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

Question 13

Explain HypOtonia further…

Answer 13

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

Question 14

Another important Clinical presentation…

Fixing/Stacking Tendencies

Explain

Answer 14

• often rely on widening BOS

Question 15

Hypotonia DOES NOT EQUAL

Answer 15

WEAKNESS

Question 16

Additional Clinical Presentation DS

Answer 16

• 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

Question 17

GLOBAL DEVELOPMENTAL DELAYS

Gross Motor Skill Delays

Answer 17

• 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

Question 18

Global Delays of Development

Cognitive + Communication

Answer 18

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

Question 19

Role of PT in DS

Most prominent when?

Answer 19

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

Question 20

Role of PT in DS

Answer 20

• 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.

Question 21

PT Exam for DS

Musculoskeletal components:

Answer 21

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

Question 22

PT Exam: MSK

strength

Answer 22

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

Question 23

PT Exam: MSK

ROM

Answer 23

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

Question 24

PT exam: MSK

Endurance (muscular)

Answer 24

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

Question 25

Posture/Structural Alignment

Answer 25

Check **weighted and unweighted pos's**

Question 26

PT Exam Posture and Alignment Common Findings: Name all

Answer 26

* **\*Atlanto-axial/Atlanto-occipital joint instability** * Scoliosis * Hip disloc's (congenital, SCFE) * Knee/Lower Limb Malalignment

Question 27

Posture/Alignment Common Findings: ## Footnote **Atlanto-axial/Atlanto-occipital joint instability\*\*\***

Answer 27

* 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**

Question 28

Symptoms of AA/AO Instability or Slippage

Answer 28

* HypERreflexia * +Babinksi * Ankle clonus * MM weakness * Abnorm gait * C/O neck pain * Limtd neck ROM **Tx== spinal fusion**

Question 29

Posture/Alignment findings: ## Footnote **Scoliosis/Hip Conds**

Answer 29

* Scoliosis * **pre-teens** * Hip Cond's * **congenital disloc's** * **Slipped Capitol Femoral Epiphysis (SCFE)**

Question 30

Posture/Alignment findings ## Footnote **Knee/Lower limb mal-alignment**

Answer 30

* 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**\*\*\*

Question 31

Pes PlanovaLgus

Answer 31

* **One of the MOST COMMON alignment deficits in children w/ DS\*\*\*\*\*\*\***

Question 32

PT Exam: **Neurologic**

Answer 32

* **MM tone:** * min-mod-severe * **Balance:** * observe * perturbations * **Coordination:** * DESCRIBE mvmts * **Sensory:** * Proprio/body awareness

Question 33

PT Exam: **Cardiovascular**

Answer 33

* Note h/o **congenital heart/resp cond's** * **OLDER KIDS:** * Peds RPE, 6MW Integumentary not typ. impaired\*\*\*

Question 34

PT Treatments: ## Footnote **what do you HAVE to REMEMBER?**

Answer 34

* **PRECAUTIONS!!!** * Cardiac hx * AI/AO instability\*\*\*\*\*

Question 35

PT Tx

Answer 35

* 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!!!**

Question 36

Add'l Genetic Syndromes: ## Footnote **Cri-Du-Chat**

Answer 36

* **Hallmark cry\*\*\*→ 2\* to structural laryngeal abnormality\*\*\*\*** * Associated w/: * LBW * FTT * **\*HYPOTONIA-----common theme** * Low IQ * sound sensitivity * chronic sleep probs

Question 37

Add'l Genetic Syndromes: ## Footnote **Prader Willi**

Answer 37

* 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\*\*\*\*

Question 38

Add'l Genetic Syndromes: ## Footnote **Angelman Syndrome**

Answer 38

* 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\*\*\***

Question 39

Add'l Genetic Syndromes: ## Footnote **William's Syndrome**

Answer 39

* == 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)**

Question 40

Add'l Genetic Syndromes: ## Footnote **Single Gene Disorders** **Neurofibramatosis→**

Answer 40

* 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**

Question 41

NF Type 1:

Answer 41

* 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.

Question 42

NF Type 2: MORE SEVERE

Answer 42

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

Question 43

Add'l Genetic Syndromes: ## Footnote **Fragile X Syndrome**

Answer 43

* X-linked dominant * **MOST COMMON COG IMPAIRMENT** * Face: * large ears, prominent mandible * **presents w/:** * **HYPOTONIA\*\*** * **Jt hypERmobility** * **delayed milestones** * **_Autism_→ MOST COMMON GENETIC LINK**

Question 44

most common genetic link to Fragile X

Answer 44

Autism

Question 45

Rett Syndrome is \_\_\_\_\_

Answer 45

Progressive \*\*\*

Question 46

Add'l Genetic Syndromes: ## Footnote **Rett Syndrome**

Answer 46

* **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_**

Question 47

PT Tx and Considerations for Children w/ **Genetic Disorders** **COMMON THEME????**

Answer 47

HypOtonia HypERmobility Cog Delays

Question 48

PT Tx and Considerations for Children w/ **Genetic Disorders**

Answer 48

* **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