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CLINICAL

review
Indexing Metadata/Description
Title/condition: Down Syndrome
Synonyms: Trisomy 21, Downs syndrome
Anatomical location/body part affected: Down syndrome (DS) is a genetic disorder that affects
multiple organ systems
Description
1/733 infants are born with DS; more than 350,000 people in the U.S. have DS
ICD-9 codes
758.0 Downs syndrome
ICD-10 codes
Q90.9 Downs syndrome
Q90.0 trisomy 21, meiotic nondisjunction
Q90.1 trisomy 21, mosaicism (mitotic nondisjunction)
Q90.2 trisomy 21, translocation
Q90.9 Downs syndrome, unspecifed
Reimbursement: No specifc issues or information regarding reimbursement have been identifed
Presentation/signs and symptoms: DS can be diagnosed during pregnancy or shortly after birth;
children with DS may present with the following s/sx
Musculoskeletal
Flat nasal bridge
(1)
Protruding large tongue
(1)
Small head
(2)
Small nose and mouth
(1)
Excess skin on posterior neck
(1)
Short hands and fngers
(3)
Hypotonia
(1)
Marked joint laxity
Atlantoaxial joint instability
(4)
Increased space between frst and second toe
(1)
Separated sutures in skull
(3)
Hip dislocation
(3)
Pes planus
(1)
Metatarsus primus varus
(1)
Patellar instability
(1)
Cognition/neurologic
Mild to moderate mental retardation
(1)
In some cases retardation is severe
(1)
Alzheimers disease
(4)
Seizures
(5)
Cardiac
Atrioventricular septal defect
(4)
Persistent ductus arteriosus
(4)
Tetralogy of Fallot
(4)
Vision/hearing
Vision concerns including esotropia (crossed eyes)
(5)
Cataracts
(5)
Near or farsightedness
(5)
Oblique eye fssures
(1)
Brushfeld spots on the iris (white spots)
(1)
Hearing problems from fuid or nerve impairment
(5)
GI/metabolic
Gastrointestinal blockages
(3)
October 10, 2008
Author
Amy Lombara, RPT
Reviewers
Joanne Minichillo, PT
Cinahl Information Systems
Glendale, California
Rehabilitation Operations Council
Glendale Adventist Medical Center
Glendale, California
Editor
Sharon Richman, MSPT
Cinahl Information Systems
Down
Syndrome
Hypothyroidism
(3)
Hirchsprungs disease
(1)
(megacolon)
Other
Frequent infections
(5)
Increased risk for developing leukemia
(3, 5)
Depression
(1)
Obstructive sleep apnea
(3)
Causes & Risk Factors
Causes
Causes of trisomy 21 (more than 90% of DS cases
(2)
)
An additional, complete 21
st
chromosome is present in all of the bodys cells.
(2, 4)
As a result the embryo will have 47 chromosomes
instead of the typical 46
(4)
The cell division error occurs before fertilization
(5)
The genetic error is known as meiotic nondisjunction; usually maternal
(1)
Causes of mosaic DS (12% of cases
(4)
)
An additional, complete 21
st
chromosome is present in some of the bodys cells
(2)
In mosaic DS the cell division error occurs after fertilization, in the embryo
(1, 5)
Causes of translocation DS (34% of cases
(5)
)
A portion of chromosome 21 attaches or translocates to another chromosome. The child has two typical copies of chromosome number
21 in addition to the translocated chromosome with material from chromosome 21 adhered to it
(2)
The translocation occurs before fertilization
(5)
There are 46 total chromosomes
(1)
Pathogenesis
(6)
In an individual with DS, the combined cerebellum and brainstem weighs only 66% of normal
Evidence of neurological immaturity is noted by decreased myelination and smaller convolutions when compared to typically developing
infants at a similar age
Also seen are structural abnormalities in dendrites of the motor cortex
Risk factors
(4)
Increased maternal age is associated with increased risk of having a baby with DS
A 35-year-old womans risk is 1/350
A 45-year-old womans risk is 1/30
Increased maternal age is not associated with an increased risk of DS caused by translocation
A woman who has given birth to a child with DS has a 1/100 chance of having a second child with DS (age may be a component as well)
In DS caused by translocation, the occurrence appears to be random; however, one third of DS cases are caused by translocation due to a
parent with a translocated chromosome. This increases the risk of DS in the next pregnancy
Overall Contraindications/Precautions
Atlantoaxial dislocation
(4)
The hypotonia seen in children with DS causes ligamentous laxity; this is especially true in the frst two cervical vertebrae
Increased laxity at this joint increases the risk of spinal cord injury
Instability at the atlantoaxial joint occurs in 1020% of DS cases
Spinal compression caused by this laxity is rare but can occur
X-rays are recommended for all children with DS over the age of 2 years due the risk of dislocation at this joint
Avoid high-risk activities that can overtax the cervical joints (diving, gymnastics, high jumping, trampoline, etc.)
Pain
(1)
Individuals with DS may take longer to respond to pain stimuli and in a less precise manner
Early weight-bearing
(6)
Static postures that allow for increased stress on joints, which are inadequately supported (secondary to decreased tone and lax
ligaments), such as the knee may be contraindicated in the very young DS population
See specifc Contraindications/precautions under Assessment/Plan of Care
Examination
History and tests/measures may be age and setting specifc; recommendations are a guide and should be used as appropriate for each individual patient.
History
History of present illness/injury
Mechanism of injury or etiology of illness
What is nature of current reason for eval/treatment?
What type of DS has the patient been diagnosed with?
What types of physicians is the patient followed by?
Course of treatment
Medications for current illness/injury
Determine what medications clinician has prescribed, if any; are they being taken?
Piracetam was shown to be ineffective and potentially harmful in a small randomized controlled trial
(7)
No drugs or dietary supplements have been shown to improve cognitive function in individuals with DS
(1)
Diagnostic tests completed
Brain imaging may show third ventricle enlargement and reduced brain weight
(8)
Cervical spine X-rays are critical in detecting atlantoaxial instability
Previous therapy: Document whether patient has had occupational or physical therapy for this or other conditions and what specifc
treatments were helpful or not helpful
Aggravating/easing factors: Any situations or circumstances that appear to exacerbate or ease certain symptoms?
Body chart: Use body chart to document location and nature of symptoms
Nature of symptoms: Document nature of symptoms (constant vs. intermittent, sharp, dull, aching, burning, numbness, tingling) as able
Rating of symptoms: Use a visual analog scale or 010 scale to assess symptoms at their best, at their worst, and at the moment
(specifcally address if pain is present now and how much)
Pattern of symptoms: Document changes in symptoms throughout the day and night, if any (AM, mid-day, PM, night); also
document changes in symptoms due to weather or other external variables
Sleep disturbance: Document number of wakings/night, if any
Other symptoms: Document other symptoms patient may be experiencing that could be indicative of a need to refer to physician
Respiratory status: Note any respiratory complications
Barriers to learning
Are there any barriers to learning? Yes

No

If Yes, describe _______________________


Medical history
Past medical history
General inquiry
What surgical procedures has the patient undergone, if any?
Has the patient had X-rays of cervical spine recently to assess for atlantoaxial dislocation?
Any recent hospital admissions?
Comorbid diagnoses: Ask patient/caregiver about other problems, including diabetes, cancer, heart disease, pregnancy, psychiatric
disorders, orthopedic disorders, etc.
Medications previously prescribed: Obtain a comprehensive list of medications prescribed and/or being taken (including over-the-
counter drugs)
Other symptoms: Ask patient/caregiver about other symptoms he/she may be experiencing
Social/occupational history
Patients goals
Document what the patient/caregiver hopes to accomplish with therapy and in general
Do the family and patient feel they have necessary support in place?
Vocation/avocation and associated repetitive behaviors, if any
How is the child able to negotiate the school/home environment?
Is the child involved in any activities?
Is the older patient involved in any leisure activities?
Functional limitations/assistance with ADLs/adaptive equipment
Any adaptive or assistive devices used at home?
What ADLs can the child perform?
Age at which developmental milestones were reached?
Living environment
Inquire about home: stairs, number of foors in home, with whom does patient live, caregivers, etc. Identify if there are barriers to
independence in the home; any modifcations necessary?
Any siblings?
Is the older patient living at home, group home, and with whom?
Is the individual able to tolerate his/her workday?
Is the type of work compounding the existing problem?
Is the individual able to safely navigate all environments?
Relevant tests and measures: (While tests and measures are listed in alphabetical order, sequencing should be appropriate to
patient medical condition, functional status, and setting)
Anthropometric characteristics
Is there a leg length discrepancy present?
Arousal, attention, cognition (including memory, problem solving)
Does the child orient to name?
Can the patient follow commands? How many steps?
Researchers in a study of 88 adults with DS and 56 adults with mental retardation (conditions other than DS caused the mental
retardation) assessed the impact of aging on cognitive domains in these individuals
(9)
Individuals with DS younger than 45 years of age demonstrated higher scores in the performance (non-verbal abilities) domains
than in the verbal domains
Individuals with DS who were at least age 45 demonstrated a decline in the performance sections, however, verbal scores remained
fairly constant
Therefore, it was concluded that aging appeared to have the greatest impact on performance domains in individuals with DS.
As non-verbal abilities are often a cognitive strong point in these individuals the impact of aging may have greater ramifcations
(compared to a typically aging person) as they are not able to fall back on their verbal communication skills
Research reports age-associated declines in cognitive functioning in the DS population at a much earlier age than in the general
population. Specifcally, changes in new learning, memory, and attention span were documented
(9)
Research recommends short and straightforward instruction and increasing the amount of time necessary for successful completion of
a task
(10)
Also recommended were a gradual integration of new information, structure, consistency, and allowing for the feeling of success
(4)
Assistive and adaptive devices
As the child grows, it may be necessary to provide assistive devices to promote independence during mobility and gait. Orthotic
consults may also be indicated
In the older DS population assistive devices may be indicated to assist with independent mobility as motor skills may deteriorate over
time
Balance
Delayed and atypical balance development is frequently seen
(11)
Decreased pelvic control, hypotonia, and pes planus can impact balance reactions
(12)
At age-appropriate stages balance should be assessed statically and dynamically in sit and stance:
The Timed Up and Go (TUG) test is an objective measure of a patients ability to rise into stance. Increased risk of falls, quick
fatigue, and decreased safety outdoors are associated with a score of more than 30 seconds
(13)
The Berg Balance assessment may be used for children aged 5 years and older
Cardiorespiratory function and endurance
Document vital signs during, pre-, and post-exertion
Patients with DS typically present with decreased work capacity and decreased peak oxygen consumption
(14)
Decreased maximal heart rates (derived from typical formula of 220 minus age) are common; possibly as much as 30 beats/min
lower
(14)
A nonrandomized controlled study found that individuals with DS have a reduced heart rate response during exercise that could be
diagnosed as chronotropic incompetence. In this study chronotropic incompetence was defned as inappropriate heart rate response
to maximal exertion or failure to reach 85% of age-predicted maximal heart rate
(14)
Circulation
Clinician may assess radial and pedal pulses
Note capillary refll time in fngers and toes
Ergonomics/body mechanics
Observe posture/body mechanics during various activities; document substitute motions
Functional mobility
Observe a childs ability to transition in out of positions and how he or she accomplishes the task
Developmental tests with gross motor and fne motor components include (partial list)
The Battelle Developmental Inventory; birth to age 11 years; with cognitive component
Bruininks-Oseretsky Test of Motor Profciency (BOTMP), 2nd edition; ages 4-21
The PEDI (Pediatric Evaluation of Disability Inventory); 6 months to 7 years; ADL component
Peabody Developmental Motor Scales; birth to 5 years
Gait/locomotion
Children with DS begin to walk ~ 1 year later than typical children
(15)
Perform gait assessment. Subjective reports of gait deviations include
(11)
Decreased and early hip extension
Increased hip abduction with swing
Increased hip/knee fexion
Increased plantar fexion
Decreased ankle rotations in the sagittal plane
Increased double support time
Wider step width
(16)
Longer stance time
Shorter step lengths
Limitations in ascending and descending stairs have been seen in the DS population, with actions such as forward lean, decreased
balance, marking time patterns, and incorrect foot placement. (Marking time pattern was defned as favoring the dominant leg and
reducing the balance requirements of the task)
(17)
Joint integrity and mobility: Lax joints and hypermobility are common in individuals with DS. A general assessment of joints is
indicated; however, the clinician must use caution not to further tax joints during evaluation process
Motor function (motor control/tone/learning)
Patients with DS have hypotonia
Research has also proposed that individuals with DS may compensate for their perceived instability by increasing stiffness. It is
surmised that their sense of instability comes from their decreased muscle tone and resulting joint laxity
(16)
It has been noted that individuals with DS, when compared to typically developing peers, tend to have more variable movement
patterns
(16)
Children with DS often use substitute motions and will develop compensatory movement patterns that are ultimately detrimental to the
musculoskeletal system
(4)
Muscle strength
MMT as able
Assessing strength in children with DS can be achieved through observation of functional/developmental skills. An example would be
an assessment in the quadruped position. The clinician should observe the childs ability to maintain a neutral head position, shoulders/
hips/knees at 90, and holding of a neutral spine. Also observe position of scapulas
(12)
In cases of longstanding mental retardation, the individuals muscle strength is often below normal
(10)
In DS often there is a reduced quality and amount of muscle tissue
(10)
Neuromotor development
Patients with DS may have the following associated conditions
Hypotonia
(11)
Diffculty sustaining muscle contractions
(11)
Muscle oscillations at fnal joint positions
(11)
Impaired timing of muscle contractions
(11)
Signifcant developmental delays
(6)
Observation/inspection/palpation (including skin assessment)
Document any skin breakdown, bruising, rashes, etc.
Palpation may assist in detecting any subluxations
Pain
Watch for facial grimacing or body tensing as indicators of pain
Posture
Assess posture
Delayed postural response patterns are typical in the DS population
(11)
An example of the delayed development of postural tone is marked head lag and decreased antigravity extension seen when eliciting
the Landau response
(6)
While striving to maintain anti-gravity stability during sit, the child may assume a W-sitting posture;
(18)
this posture is extremely
taxing on the childs hips
The initial or early standing posture of an infant with DS typically consists of decreased trunk control, hip instability, and knee
hyperextension
(6)
Adult patients with DS often posture themselves in standing position without lateral weight loading on feet, center of pressure is
displaced forward, and ankle eversion. Pes planus and hallux valgus are very common in individuals with DS as well
(11)
As the child grows, scoliosis screenings should be completed
(18)
Range of motion
General assessment as indicated
May be observed through functional movement unless defcit is suspected
Typically hypermobility is present
Refex testing
Assess childs protective reactions to front, sides, and rear
Assess for atypical deep tendon refexes
Primitive refexes such as the Moro, stepping, and palmar were seen in infants with DS long after they would have normally been
expected to integrate
(6)
Self-care/activities of daily living (objective testing)
Evaluate as indicated
Sensory testing
Evaluate proprioception, kinesthesia, and response to touch as able
Hypotonia has been linked as a contributor to decreased stereognosis and kinesthetic feedback
(6)
A study of 35 school-aged children with DS found a signifcant reduction in postrotary nystagmus response compared to Ayres sample
of typically developing children. The impact of this fnding cannot be fully evaluated as a link between vestibular dysfunction and low
post-rotary nystagmus has not been fully developed
(19)
Overall, children with DS have reduced sensory experiences as a result of delayed and decreased motor skills
(12)
Assessment/Plan of Care
Contraindications/precautions
Modalities
Use modalities in this population cautiously as sensation may be impaired, and a delay in pain reporting may occur
Therapeutic strategies
(18)
The clinician should be cautious when participating with the child in activities which may increase the risk of a fall with resultant
injury to the head/neck
Avoid extremes in ROM; particularly in the neck
Joint compression/approximation (in the cervical region) is contraindicated when atlantoaxial instability is known to be present
Patients with this diagnosis are at risk for falls; follow facility protocols for fall prevention and post fall prevention instructions
at bedside, if inpatient. Ensure that patient and family/caregivers are aware of the potential for falls and educated about fall
prevention strategies. Discharge criteria should include independence with fall prevention strategies
Diagnosis/need for treatment
The ability to walk fosters cognitive and social growth as the child can interact with the environment from a different perspective
(15)
A childs depth perception, object permanence awareness, and sense of self/objects in space increases as he/she becomes mobile
(15)
Individuals with mental impairment are believed to have increased morbidity; impacted by decreased motivation, limited opportunities to
participate in therapeutic programs, and physical development that has been impaired
(20)
The medical community generally believes that poor cardiovascular ftness places individuals with DS at increased risk for developing
obesity, osteoporosis, type II diabetes, and cardiovascular diseases
(21)
Overall the research reviewed supports positive reinforcement to bolster motivation and actually found that without such praise in this
population participants would often cease activity all together
One article suggests that interventions should be geared around trying to increase a childs muscle tone during therapy as hypotonia in
this population has been shown to have such a negative, global impact
(6)
Rule out: N/A
Prognosis:
Based on fndings from a study completed in Atlanta, Georgia (1979-1998), approximately 93% of infants with DS survived their frst
year and approximately 90% of infants survived their frst 10 years of life
(22)
African Americans with DS, at age 20, are seven times more likely to die than White individuals with DS at age 20
(22)
Infants with DS who are White and have congenital heart defects are eight times more likely to die than those infants without congenital
heart defects
(22)
Referral to other disciplines
An orthotic consult may be indicated to address marked pronation commonly seen in this population
A speech consult for support with language and or feeding concerns may be indicated
Treatment summary
Clinicians should follow the guidelines of their clinic/hospital and what is ordered by the patients physician. The summary listed below
is meant to serve as a guide, not to replace orders from a physician or a clinics specifc protocols
Therapeutic exercises
A study of 14 individuals with DS documented signifcant improvement in strength in those participants who underwent a weight
training program. The remaining participants, who were placed in a more typical circuit exercise program (isometrics/calisthenics),
had signifcant gains in strength as well. However, the gains in strength seen in the circuit training group were not as substantial as
those seen in the weight training group
(23)
An interventional study with before/after comparison of 31 adolescent males with DS found regular exercise increased erythrocyte
glutathione peroxidase (GPX) in the blood. GPX is an antioxidant enzyme that assists in preventing cell damage. More research is
needed to conclude whether regular exercise does in fact slow oxidative damage in individuals with DS
(24)
A clinical investigation comparing different therapeutic approaches found a combination of vestibular stimulation, neurodevelopmental
therapy, and sensory integrative therapy was more effective than sensory integrative therapy as the sole intervention. All three
interventions were found to be effective in treating children with DS. The study recommended a combination approach to treatment
with greater emphasis placed on the specifc needs of that child
(12)
A small, controlled study of young adults with DS found signifcant improvement in muscle strength and dynamic balance reactions
(in the treatment group) following a 12-week training program consisting of various therapeutic activities. Examples of the treatment
groups activities included hopping, jumping, single leg stance, and balance beam work
(10)
In a controlled study of 20 children with DS who underwent jumping lessons 3x/wk for 6 weeks, signifcant improvements in the foor
walk, beam walk, and horizontal and vertical jumping tests were recorded. The study concluded that the clinical implication would be
the promotion of better motor movement through therapeutic intervention
(25)
Functional training
A Cochrane systematic review evaluated available studies meeting their inclusion criteria to determine if aerobic exercise training
programs for adults with DS would improve their overall health. The authors concluded that there was insuffcient evidence to support
that aerobic exercise in adults with DS will improve physical or psychosocial outcomes. The review called for more well-conducted
research to assess adverse effects, long-term physical outcomes, psychosocial outcomes, and costs in an effort to improve clinical
practice decisions
(26)
In a blinded, controlled study of elderly individuals with DS, leg strength and balance were found to be signifcantly improved after a
25-week submaximal treadmill walking program. Further benefts from these measured gains may include a reduced fall risk and the
promotion of social activities
(13)
A controlled trial of 14 elderly individuals with DS and mild intellectual impairment found a submaximal treadmill walking program
3x/wk for 15 consecutive weeks improved walking speed, duration, and distance. Pain levels were found to be decreased in subjects
who also had a diagnosis of intermittent claudication
(20)
A randomized, controlled trial found that children with DS learned to walk signifcantly faster when participating in a home treadmill
training program 5 days a week for 8 minutes a day when compared to control group
(1)
In a small controlled study of 8 preadolescents with DS and 8 preadolescents with typical development, the children with DS were
found to have reduced stiffness and impulse values after massed practice of treadmill walking. This study would suggest that the
effect of practice on this novel task was positive and the children were able to acclimate their bodies response demonstrated by more
effcient behavior as repetitions went on
(16)
A study of 7 children with DS evaluated the effects of bi-weekly exercise/12-week duration created to enhance stair climbing ability.
The study found signifcant improvements in ascent and descent phases after the programs completion
(17)
Anecdotal evidence of some of the perceived benefts of a swim program in a small group of individuals with DS included participant
enjoyment, increased endurance, weight loss, improved personal hygiene, improved social skills/confdence, and a more balanced gait
(27)
Prescription, application of devices and equipment
A controlled study (with a repeated measures design) found that foot orthoses (FO) decreased heel eversion or decreased the pronation
seen during stance in young children with DS. (The study did note the critical nature of a proper ftting FO in patient tolerance and
effectiveness.) Also observed in the study was that the childrens transverse plane foot angle became abnormally internally rotated
while wearing the FOs. This fnding raised the concern that FOs may cause torsional moments up the leg with an undesirable impact
on the knee joint. The study recommends a close look at each individual patient and providing knee supports/strengthening as
indicated. The study also recommended the following practices when working with patients with DS and implementing FOs:
(11)
Strengthening lower extremities with goal of increased muscular support about the knee and improved push off
Heel cord stretching with heel in neutral position
Dynamic balance activities which promote weight shift during late swing vs. heel contact
A crossover study found signifcant improvements in postural stability, immediately and 7 weeks out, in children with DS while
wearing fexible supramalleolar orthoses (SMOs) to correct increased pronation
(28)
Problem Goal Intervention
Expected
Progression
Home Program
Developmental delay
Decreased endurance
Attainment of motor
milestones
Improved endurance
The clinician can foster the
acquisition of developmental
milestones through various
positioning/handling
strategies from very early on.
Interventions should focus
on the ability to withstand
the forces of gravity while
maintaining proper alignment
during the completion of
functional tasks
(18)
Progress each child as
appropriate and indicated
through the developmental
sequence
Design a home program that
addresses developmental
delay and decreased
endurance as indicated and
appropriate
Problem Goal Intervention
Expected
Progression
Home Program
Decreased strength
Compensatory movement
patterns/substitute motions
Gait deviations
Improved strength
Prevention of compensatory
movement patterns/
substitute motions
Improved gait pattern
Therapeutic strategies
May increase strength
through play early on.
Examples include the
encouragement of neck
extension while in supported
prone on a therapy ball or
crawling through a tunnel
with pillows placed inside to
offer resistance
Alignment must be monitored
during strengthening
activities
(18)
Functional training
Gait training as indicated and
appropriate
Progress as indicated
depending on age of child
and functional level
Strengthening activities may
later include ambulating
through the sand at the
beach or walking up hill, for
example
Provide a home program that
incorporates strengthening
activities as indicated
Educate the caregivers
on proper alignment
during mobility and with
static activities (Ex: Avoid
W-sitting)
Ligament laxity/joint
hypermobility
Hypotonia
Poor postural tone/reactions
Improved joint stability
Strategies to improve muscle
tone
Improve postural tone/
reactions
Application of devices/
equipment
Bracing may be indicated to
address laxity about major
joints
Assistive devices to support
gait until muscles are strong
enough to maintain proper
alignment and avoid the need
for compensatory strategies
Therapeutic strategies
Strengthening activities
designed to bolster support
around joints will help to
compensate for joint laxity

Interventions to increase
muscle tone prior to the
start of treatment sessions
(light bouncing on a therapy
ball, stimulating lighting/
sound, etc.)
Therapeutic strategies
NDT has been advocated
as a valuable treatment
intervention in the DS
population due to the
generalized hypotonia seen.
The basis behind NDT is to
promote normal muscle
tone to allow for more
typical movement patterns,
and facilitating protective,
righting, and equilibrium
responses. The theory is
sound, but more research
needs to be completed to
support its efcacy in this
population
(6)
Progress as indicated
Reduce assistive device use
as able
Provide education/wearing
schedule for bracing as
indicated
Problem Goal Intervention
Expected
Progression
Home Program
Decreased proprioception
Decreased balance
Improved proprioception
Improved balance
Therapeutic strategies
Interventions designed to
improve proprioception
can range from swimming
to light joint compression
through a particular joint (see
contraindications above)
Balance strategies may
begin as simply reducing the
amount of support provided
though the trunk during the
beginning stages of sit or
placing a child in sidelying
and promoting the controlled
attainment of supine or prone
Progress as indicated
For the ambulatory child
high-level balance activities
can be introduced.
Playgrounds often provide a
great medium for this type
of work
Provide home program
designed to promote
balance reactions and foster
proprioception as indicated
Joint deformity; pes planus,
hallux valgus
Joint pain
Prevention or appropriate
adaptation for joint deformity
Reduce/eliminate pain
Orthotic consult as indicated N/A Provide instruction on
orthotic use and wearing
schedule as indicated
Decreased coordination Improve coordination Therapeutic strategies
Bilateral tasks that foster a
midline point of reference
(18)
Crossing midline Incorporate coordination
activities into home program
as indicated
Desired Outcomes/Outcome Measures
Document improvements in strength, balance, functional mobility, endurance, pain, postural alignment, and gait pattern
Document orthotic intervention and tolerance
Document use of adaptive/assistive equipment and tolerance
Maintenance or Prevention
See Home Program section of grid










References
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Accessed October 7, 2008. (RV)
2. MayoClinic Staff. Down syndrome. MayoClinic Web site. http://www.mayoclinic.com/health/down-syndrome/DS00182 Updated April
6, 2007. Accessed October 7, 2008. (GI)
3. Lewis RA. Down syndrome. MedlinePlus Medical Encyclopedia Web site. http://www.nlm.nih.gov/medlineplus/ency/article/000997.
htm Updated May 10, 2007. Accessed October 7, 2008. (GI)
4. National Down Syndrome Society. http://www.ndss.org Accessed October 7, 2008. (GI)
5. Down syndrome. March of Dimes Web site. http://www.marchofdimes.com/printableArticles/4439_1214.asp Updated March 2007.
Accessed October 7, 2008. (GI)
6. Harris SR. Physical therapy and infants with Down's syndrome: the effects of early intervention. Rehabil Lit. 1981;42(11-12):339-343. (RV)
7. Lobaugh NJ, Karaskov V, Rombough V, et al. Piracetam therapy does not enhance cognitive functioning in children with Down
syndrome. Arch Pediatr Adolesc Med. 2001;155(4):442-448. (RCT)
8. Schimmel MS, Hammerman C, Bromiker R, Berger I. Third ventricle enlargement among newborn infants with trisomy 21. Pediatrics.
2006;117(5):e928-e931. (R)
M Published meta-analysis
SR Published systematic or integrative literature review
RCT Published research (randomized controlled trial)
R Published research (not randomized controlled trial)
C Case histories, case studies
G Published guidelines
RV Published review of the literature
RU Published research utilization report
QI Published quality improvement report
L Legislation
PGR Published government report
PFR Published funded report
PP Policies, procedures, protocols
X Practice exemplars, stories, opinions
GI General or background information/texts/reports
U Unpublished research, reviews, poster presentations or other
such materials
CP Conference proceedings, abstracts, presentations
Coding Matrix
References in this Clinical Review are rated using the following codes, listed in order of strength:
9. Devenny DA, Krinsky-McHale S. Age-associated differences in cognitive abilities in adults with Down syndrome. Topics in Geriatric
Rehabilitation. 1998;13(3):65-72. (R)
10. Tsimaras VK, Fotiadou EG. Effect of training on the muscle strength and dynamic balance ability of adults with Down syndrome. J
Strength Cond Res. 2004;18(2):343-347. (R)
11. Selby-Silverstein L, Hillstrom HJ, Palisano RJ. The effect of foot orthoses on standing foot posture and gait of young children with
Down Syndrome. NeuroRehabilitation. 2001;16(3):183-193. (R)
12. Uyanik M, Bumin G, Kayihan H. Comparison of different therapy approaches in children with Down syndrome. Pediatr Int.
2003;45(1):68-73. (R)
13. Carmeli E, Kessel S, Coleman R, Ayalon M. Effects of a treadmill walking program on muscle strength and balance in elderly people
with Down syndrome. J Gerontol A Biol Sci Med Sci. 2002;57(2):M106-M110. (R)
14. Guerra M, Llorens N, Fernhall B. Chronotropic incompetence in persons with Down syndrome. Arch Phys Med Rehabil.
2003;84(11):1604-1608. (R)
15. Ulrich DA, Ulrich BD, Angulo-Kinzler RM, Yun J. Treadmill training of infants with Down syndrome: evidence-based developmental
outcomes. Pediatrics. 2001;108(5):E84. (RCT)
16. Smith BA, Kubo M, Black DP, Holt KG, Ulrich BD. Effect of practice on a novel taskWalking on a treadmill: Preadolescents with
and without Down Syndrome. Physical Ther. 2007;87(6):766-777. (R)
17. Lafferty ME, Hons BA. A stair-walking intervention strategy for children with Down's syndrome. J Bodywork Movement Ther. 2005; 9
(1): 65-74. (R)
18. Tecklin JS. Pediatric Physical Therapy. 4th ed. Philadelphia: Lippincott Williams & Wilkins; 2008. (GI)
19. Zee-Chen EL, Hardman ML. Postrotary nystagmus response in children with Down's syndrome. Am J Occup Ther. 1983;37(4):260-
265. (R)
20. Carmeli E, Barchad S, Masharawi Y, Coleman R. Impact of a walking program in people with Down syndrome. J Strength Cond Res.
2004;18(1):180-184. (R)
21. Dodd KJ, Shields N. A systematic review of the outcomes of cardiovascular exercise programs for people with Down syndrome. Arch
Phys Med Rehabil. 2005;86(10):2051-2058. (SR)
22. Down syndrome survival rate increasing: racial disparities exist in a large metropolitan area. Centers for Disease Control and
Prevention Web site. http://www.cdc.gov/od/oc/media/pressrel/r060630.htm Updated June 30, 2006. Accessed October 7, 2008. (PGR)
23. Weber R, French R. Downs syndrome adolescents and strength training. Clin Kinesiol. 1988;42(1):13-21. (R)
24. Francisco Javier O, Manuel R, Manuel RR. Regular physical activity increases glutathione peroxidase activity in adolescents with
Down syndrome. Clin J Sport Med. 2006;16(4):355-356. (R)
25. Wang WY, Ju YH. Promoting balance and jumping skills in children with Down syndrome. Percept Mot Skills. 2002;94(2):443-448. (R)
26. Andriolo RB, El Dib RP, Ramos LR. Aerobic exercise training programmes for improving physical and psychosocial health in adults
with Down syndrome. Cochrane Database Syst Rev. 2005;(3):CD005176. doi: 10.1002/14651858.CD005176. (SR)
27. Goodwin C. Exploring the effects of a swim program for clients with Down syndrome. OT Pract. 2007;12(2):17-21. (RV)
28. Martin K. Effects of supramalleolar orthoses on postural stability in children with Down syndrome. Dev Med Child Neurol.
2004;46(6):406-411. (R)

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