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Down Syndrome (DS)

Created: December 30, 2013 | Revised:

Author(s): Kathy S. Martin, PT, DHS | Disclosures

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Down syndrome (DS) is a genetic disorder in which babies are born with full or partial extra copies of the genes on chromosome 21, thereby changing how
the brain and body develop. Approximately 6,000 babies are born with Down syndrome (DS) in the United States each year, and about 400,000 people in
the United States and 6 million people worldwide have DS. Most children with DS have delayed mental and physical development, and congenital heart
defects are common. The average lifespan of a person with DS in the United States and other developed countries is now about 60 years of age. With this
increased longevity, issues of aging with DS arise, including a relatively high incidence of depression, Alzheimer disease, and degenerative joint disease.
Physical therapists improve quality of life for people with DS by helping them increase their motor skills, muscle strength, and joint stability; incorporate
healthy lifestyle habits; enhance participation in life activities; and prevent complications of DS, such as obesity and low levels of cardiovascular fitness.

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Clinician’s QuickTakes
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Overview

Incidence | Developmental Milestones and Participation Restrictions | Pathoanatomical Features

The most common chromosomal abnormality, Down syndrome (DS) is characterized by (1):

Reduced brain volume

Increased risk of abnormality in almost every organ system
Gross motor delays resulting from hypotonia, ligamentous laxity, and reduced brain volume, especially in the cerebellum

Incidence
Incidence increases as maternal age increases. For women at 20 years of age, the incidence is 1 in 2,000; at 40 years of age, the incidence
rises to 1 in 100. (1)

Developmental Milestones and Participation Restrictions

Children with DS are most developmentally delayed in achieving gross motor milestones that require postural control and coordination, such
as walking, running, and jumping.

The factors that most limit participation for people with DS are (1,4,5):

Cognitive impairment
Deficits in expressive language
Verbal short-term memory

Pathoanatomical Features
Musculoskeletal (1):

Hypotonia, or reduced resting muscle tone and decreased resistance to passive stretch
Ligamentous laxity, resulting in joint hypermobility
Neurological (1,5):

Reduced brain volume

Smaller frontal and temporal areas
Smaller cerebellum-critical for postural control and balance
Smaller hippocampus-critical for long-term memory
More on Overview Full Clinical Summary & References Collapse Window

Classification

Karyotypes | Severity and Ability | Clinical Presentation

Karyotypes
Down syndrome traditionally has been classified according to karyotype (trisomy, 95% of cases; translocation, 4% to 5% of cases; mosaic,
1% to 2% of cases). (1)

Severity and Ability

Classification can be based on severity of hypotonia, level of ability to initiate movements against gravity, and overall gross motor abilities
(6).

Table 1. Classification Proposed by Palisano et al (6)

Mild Moderate Severe

Movement patterns similar to those of Able to initiate, adapt, and sustain movements Difficulty initiating, adapting, and
children without DS at a similar stage of during play, but movement patterns less efficient sustaining movements during play;
motor development; sufficient muscle tone, than those of children without DS frequency of movement and
strength, and voluntary control to initiate, physical endurance may be limited
Movements characterized by excessive motion in
adapt, and sustain movements during play
some weight-bearing joints, a wide base of Movement patterns inefficient and
support, reduced balance, and compensatory characterized by compensations
movements when muscle tone and strength not that reflect low muscle tone,
adequate to meet the demands of a task reduced strength, and limitations in
voluntary control of movement

Clinical Presentation
Body Functions and Structures - Primary Impairments

Hypotonia and reduced postural tone (6,7)

Ligamentous laxity and joint hyperextensibility (6)
Poor postural control and balance (6)
Decreased strength in hip abductors and knee extensors (8)
Body Functions and Structures - Secondary Impairments

Use of co-contraction as an adaptive strategy, (9) which may be insufficient or inadequate as a strategy (7)
Insufficient balance reactions (7)
Reduced proprioception (7)

Activity Limitations

Delayed motor patterns emerge under the influence of poor postural control, leading to compensatory strategies (10)
Motor delays that worsen with age, especially after 6 months of age; rate of skill acquisition slower than that of children who are
developing typically (11)
Difficulty assuming and holding postures against gravity, leading to poor-quality and inefficient motor skills (7)
Only those equilibrium reactions necessary to acquire a particular motor milestone; adaptability minimal (11)
Slow, often insufficient postural responses to external perturbations; difficulty with resolving sensory conflict and adapting to changing
environmental conditions (12)
Deficits in postural control in both anterior-posterior and medial-lateral directions persistent in adolescents and young adults (13)
Gait deficits:
- Decrease in gait velocity and stride length, increase in step width
- Wider step width, use of conservative strategies (toddlers) (ie, crawling vs stepping) when faced with an obstacle, compared with
peers who are developing typically (14)
- Increased knee flexion at initial contact and throughout stance secondary to overall muscle weakness (15)
Poor performance on reaching tasks that require motor planning; less efficient reach strategies (children) (16)
Sensory integration problems (eg, low energy, sensory seeking behaviors, low registration of sensory input, difficulty with transitions,
tactile sensitivity, auditory filtering and difficulty with noisy situations) (17)

Physical Activity

Overall, less physically active across the lifespan; fail to meet the recommended 60 minutes of daily moderate physical activity and 3
days per week of vigorous physical activity (18-20)
Significantly less physical activity than individuals with intellectual disability but without DS (20)
Youth with DS (aged 11-18 y): significantly decreased running performance (number of laps completed) on the 20-meter shuttle run
test than either youths with intellectual disability but without DS or youths without intellectual disability (21)

Participation Restrictions

Decreased ability to keep up with peers in play and recreational opportunities (eg, on the playground, at recess, in a park) (children)
(6)
Limited work and recreational opportunities because of their unique physical and medical issues that become more of a factor with
age (adults) (22)
More on Classification Full Clinical Summary & References Collapse Window

Screening

Motor and Developmental Delay | Musculoskeletal Conditions | Comorbidities

Table 2. Some Commonly Used Motor and Developmental Delay Screening Tools
Tool Age Areas
Range Screened

Ages and Stages Questionnaire (23) 1 to 66 Communication

mo
Gross motor

Fine motor
 Problem
solving

Personal-social

Bayley Scales of Infant and Toddler Development Screening Test (http://ptnow.org/tests-detail/bayley- 1 to 42 Gross motor
scales-of-infant-toddler-developmentiii-ed-) (24) mo
Fine motor

Cognitive

Language

Denver II (25) Birth to Gross motor

6y
Fine motor-
adaptive

Personal-social

Language

Musculoskeletal Conditions
Children more than 6 years of age with DS and adults with DS should be screened for specific musculoskeletal concerns. Hypotonia,
ligamentous laxity, and a tendency for obesity all contribute to the unique needs of this population.

Table 3. Musculoskeletal Screening for Older Children and Adults

Condition and Signs and Intervention Implications for Physical
Incidence Symptoms Therapy

Atlanto-occipital Easy fatigability According to a policy statement of the American If symptomatic, refer
instability (AAI) Academy of Pediatrics Committee on Genetics (27): If immediately for neurosurgical
Difficulties in symptomatic, plain cervical radiographs in neutral consult (26)
15%, but only 2% walking position; if abnormalities noted, immediately refer to
are symptomatic (3, neurosurgeon; if no abnormalities, repeat radiographs High rate of postoperative
26) Abnormal gait or in flexion and extension stabilization complications,
change in gait regardless of technique (28)
If asymptomatic, routine radiographic evaluation is not
Neck pain or recommended; counsel parents to be aware of If asymptomatic, be most aware
torticollis (26) cervical spine positioning precautions for during with any activity that
medical procedures and that some sports/activities manipulates the neck; avoid
Limited neck may increase the risk of spinal cord injury. contact sports, diving, and
mobility gymnastics; swimmers start in
The following is controversial, and other authors pool vs blocks if instability is
Change in hand provide different recommendations: present (28)
function
Radiographs at 3-5 y of age—screen once in Special Olympics requires
New onset of preschool years, plain films in neutral If no radiographic screening in order
urinary retention or abnormalities, obtain radiographs in flexion and to participate in certain sports
incontinence extension (3) that are considered to stress the
cervical spine. (29)
Incoordination or Instability on radiograph does not necessarily mean at
clumsiness risk for spinal cord injury, and finding instability does Treat all people with DS as "at
not mean it will progress to subluxation (26) risk" (26)
Sensory
impairments "Current screening is neither cost effective nor
 specific and does not reliably determine which
Spasticity, individuals with AAI are at risk for subluxation and
hyperreflexia, or cord compression." (26p147) However, still prudent to
positive Babinski continue current screening at age 3-5 y but also
sign (26) obtain neural canal width measurements (26)

Scoliosis Spinal curvature, rib Surgical stabilization indicated same as with All grade school children should
hump with forward idiopathic scoliosis with typical children; bracing does be routinely examined for
Varies with bend test not appear to stop progression; high rate of scoliosis, especially those who
population studied postoperative complications (28) have history of thoracotomy (28)
(institution vs. acute
care) but higher than
rate of idiopathic
scoliosis in typical
children (28)

Increased incidence
after thoracotomy for
cardiac surgery (28)

Arthritis Joint pain and/or Debate over whether this is truly JIA or unique Refer to rheumatologist for
swelling and limited arthropathy given the genetic and immunologic unexplained joint pain or pain in
Juvenile idiopathic range of motion factors with DS; generally polyarticular, progressive multiple joints that limits function
arthritis (JIA) 1.2% (ROM) and must be medically managed by rheumatologist
(28) (28)

Hip dislocation or Limp, poor gait or No universally accepted treatment protocol (28) Habitual dislocation may occur
subluxation; slipped even refusal to walk, in young children, or acute
capital femoral hip or knee pain SCFE—poorer prognosis for kids with DS vs. typical dislocation after age 7 y (28)
epiphysis (SCFE); children (30)
Perthes disease Can be challenging Screen hip ROM and symmetry,
to identify because especially with change in
Up to 30% (30) of cognitive and previous gait or function
communication
impairments

Patellar Instability Frequent falls, Bracing for mild instability May be a component of
limping and knee functional balance problems or a
10% to 20% (30) pain (31) Degree of Surgical correction to centralize patella, balance limiting factor in increasing
instability does not muscle and soft tissue; bony procedures done at physical activity for weight
always correlate skeletal maturity (28) management
with functional
limitations (31) Lateral release alone ineffective (31)

Foot deformities— Overpronation, Footwear modification or shoe inserts typically Foot pain may be limiting factor
pes planus, hallux malalignment successful; in increasing physical activity for
valgus Very common weight management
(28) Severe hallux valgus may require surgery to correct
Assess footwear; orthoses may
be indicated

Comorbidities
The following comorbidities are present in some but not all people with DS and should be screened:

Cognitive impairment/intellectual disability

 Congenital heart defects
Gastrointestinal tract anomalies
Thyroid dysfunction
Diabetes mellitus
Leukemia
Osteopenia/osteoporosis
Respiratory disorders
Skin disorders
Seizures
Obstructive sleep apnea
Behavioral/mental health issues
Hearing impairment
Visual impairment

Any adult with DS who has 2 or more risk factors (eg, anticonvulsant medications, limited mobility, and thyroid disorder) should be screened
for low bone mineral density (BMD) (34) and referred for physician care as appropriate.

More on Screening Full Clinical Summary & References Collapse Window

Examination

History | Body Functions and Structures | Activity Limitations | Participation Restrictions

History: Questions That Should Be Included

What comorbidities are present that may influence motor development and general prognosis?
What is the developmental history, and when were motor milestones achieved? What is the severity of the motor impairments?
What are the physical activity levels, current level of participation, and family and patient goals?
What are family and patient-specific barriers to increased participation?

Body Functions and Structures

Height, weight, body mass index (BMI), waist circumference measurement for monitoring obesity
Heart rate, respiratory rate, and blood pressure at each session
Auscultation (congenital heart defects, increased risk of developing mitral valve prolapse) (35)
Standard goniometric measurements
Strength-for children with DS who can follow simple directions: manual muscle testing (MMT) with hand-held dynamometry with
"practice, encouragement and feedback"; reliability better with 8 trials but still acceptable with 4. (8)
Strength-for younger children or those unable to follow MMT directions: careful observation of functional movements; Special
Olympics FUNfitness test
(http://www.specialolympics.org/Sections/What_We_Do/Healthy_Athletes/Healthy_Athletes_FUNfitness.aspx) could be adapted for
this purpose. (36)

Activity Limitations
Gross Motor Function Measure (GMFM) is a criterion-referenced test that has been specifically validated for children with DS.(37) It has 5
subscales-Lying and Rolling; Sitting; Crawling and Kneeling; Standing; and Walking, Running and Jumping-and a 4-point scoring system. It
has been shown to be sensitive to small but meaningful changes and can help identify whether child is advanced, age-appropriate, or
delayed compared to expectations for a child with DS through the use of motor growth curves. (6)

Recommendations (38):

Use parent report when a child isn't cooperative with testing.

Use modeling/imitation in place of verbal cues and keeping verbal communication limited, simple, and direct.
Tag-team with someone so that one person interacts and models skills while the other observes and scores.
Structure the environment to limit distractions.
Avoid open-ended questions.
Start with items that reflect the child's preferred postures and movements.
Performance of a more difficult skill can lead to automatic scoring of precursor skills, and, for children older than 3 years, testing
Dimensions D (Standing) and E (Walking, Running, and Jumping) only is acceptable.

Table 4. Standardized Tests Commonly Used to Assess Acquisition of Motor

Milestones
Tool Age Range Areas Tested Unique Characteristics

Gross Motor Function Measure Typically Gross motor Research on prognosis (motor growth
(http://ptnow.org/tests-detail/gross-motor-function- developing 5 curves) based on this test; validated for
measure-gmfm--down-syndrome-d) (GMFM) (38) y o would DS
pass all items

Peabody Developmental Motor Scales, 2nd edition Birth-72 mo Gross motor Scaled scores allow for comparing
(39) (reflexes, stationary, child to self over time to assess
locomotion, object progress from one testing date to the
manipulation) next

Fine motor
(grasping, visual-
motor integration)

Bayley Scales of Infant Development 1-42 mo Cognitive Widely used in research and the gold
(http://www.ptnow.org/ClinicalTools/Tests/Detail.aspx? standard on which most other
cid=e5b1328d-50c9-45eb-9dbe-cc07fd801f59), 3rd Language developmental assessments have
edition (40) been based
Motor

Adaptive behavior

Social-emotional

Pediatric Evaluation of Disability Inventory (PEDI) 6 mo-7 1/2 y Self-care Allows for consideration of caregiver
(41) assistance and environmental
Mobility and modifications necessary for successful
transfers performance

(Social function
section—see Table
4)

Bruininks-Oseretsky Test of Motor Proficiency, 2nd 4-21 y Fine motor control Only standardized tool for individuals
edition (BOT-2) (42) up to age 21 y
Manual coordination

Body coordination

Strength and agility

Movement Assessment Battery for Children, 2nd 3-12 y Manual dexterity Provides information about quality,
edition (Movement ABC-2) (43) quantity, and context of performance
Ball skills

Balance (static and

dynamic)
 Test of Basic Motor Skills of Children with Down Specific for 15 items with a Relatively new; developed in the
syndrome (BMS) (44) children with postural control Netherlands; similar responsiveness to
DS framework change as GMFM

Test of Gross Motor Development, 2nd edition (45) 3-10 y Locomotor (run, Standard scores, gross motor quotient,
gallop, hop, leap, and percentile ranks available
horizontal jump,
slide)

Object Control (ball

skills)

Postural control/balance: Although several of the standardized tests have components that assess postural control and balance,
individualized tests can be used, such as single-leg stance time or a test such as the Berg Balance Scale (BBS) or the Pediatric Balance
Scale, which is a modified (item sequence and instructions) version of the BBS for school-aged children with mild to moderate motor
impairments. (46)

Gait: Observational gait analysis is a method of gait analysis used in the clinical setting. One scale has been specifically designed for
children with DS based on the most common gait deviations observed. (47) This scale uses a 0 to 3 scoring system (0=within normal range,
1=inconsistently normal, 2=mild to moderate deviation, 3=marked deviation) for 6 aspects of gait: upper extremities, trunk, hip position in
terminal stance, knee position in midstance, foot position at initial contact, and base of support. Although this tool is quick and easy to use,
has acceptable interrater and intrarater reliability, and provides an objective description of gait, (47) its validity and clinically meaningful
change in score have not been investigated.

Participation Restrictions
Participation is an area that has not yet been well researched for people with DS. Few tools and few data are available.

Table 5. Some Tools Used to Assess Participation

Tool Age Range Areas Assessed General Information

Children's Assessment of 6 to 21 y with at Recreational Reliability and content and construct validity have
Participation and Enjoyment least minimal been reported, but responsiveness to change has
(CAPE) and Preferences for cognitive and Active physical not; translation into meaningful assessment requires
Activities for Children (PAC) communication a lot of interpretation on the administrator’s part (49)
(48) abilities Social
PAC is companion measure to CAPE
Skill-based

Self-improvement

School Function Assessment Kindergarten 3 parts: participation, task Only used in school setting; designed to help
(50) through 6th supports, and activity collaborative planning and must be completed by at
grade performance considered in least 2 people who interact with the child regularly
the following environments
or activities: Skills reported at 6 levels ranging from extremely
limited to full.
Classroom

Playground

Transportation

Toileting

Transitions

Mealtime
 Pediatric Evaluation of 6 mo-7 1/2 y Social function Allows for consideration of caregiver assistance and
Disability Inventory (PEDI) environmental modifications necessary for successful
(41) performance

More on Examination Full Clinical Summary & References Collapse Window

Diagnosis

Prenatal Diagnostic Testing | Key Characteristics Associated With Hypotonia

The medical diagnosis can be made prenatally during the first or second trimester. Chromosome analysis, or karyotyping, is the gold
standard for diagnosis. (30) Physical appearance at birth leads to the suspicion of the diagnosis, with the most reliable characteristics
including small ears, a wide space between the first and second toes, small inter-nipple distance, Brushfield spots, and an increased nuchal
skinfold; hypotonia, a flat face with upward slant of the eye split, and brachycephaly also are considered reliable and discriminative signs.
(30)

Based on data from 2 surveys of pediatric physical therapists and occupational therapists, 7 key characteristics are associated with the
human movement system dysfunction of hypotonia, one of key features of DS. (51,52) In the diagnostic process, physical therapists should
focus on determining the presence or absence of:

Decreased strength
Increased flexibility
Hypermobility
Decreased activity tolerance
Delayed motor skills
Leaning on supports
Rounded shoulder posture
More on Diagnosis Full Clinical Summary & References Collapse Window

Prognosis

Motor Development | Aging | Quality of Life

Motor Development
Motor growth curves show that motor skills (as assessed by the GMFM) improve most rapidly at younger ages and the rate of improvement
levels off as the child nears the upper limit of function (6):

Most infants up to 18 months of age are working on the ability to sit and move on the floor.
Most children 18 months to 3 years of age are working on learning to stand alone and walk.
Most children 3 to 6 years of age are working on learning to run, walk up and down stairs, and jump.
All children with DS, regardless of severity, will need more time to learn skills as movement complexity increases.

High amounts of leg activity (moderate to vigorous kicking) in infants with DS aged 12 to 14 months have been shown to be significantly
related to earlier onset of independent walking. (53) Children with DS who were leaner (decreased BMI) and more physically active were
stronger, specifically in the hip abductor and knee extensor muscle groups. (8)

Predicted probability percentages (6) (Table 5) can be used to anticipate when a child with DS will most likely master a skill and can be used
to help physical therapists and parents identify a child's progress compared to the expected progress for children with DS.

Table 6. Predicted Probability (%) of Achieving Gross Motor Functions Across Ages
for Children With DS Based on Logistic Regression (6)
Age (Months)
 Milestone 6 12 18 24 30 36 48 60 72

Rolling 51 64 74 83 89 93 97 99 100

Sitting 8 78 99 100 100 100 100 100 100

Crawling 10 19 34 53 71 84 96 99 100

Standing 4 14 40 73 91 98 100 100 100

Walking 1 4 14 40 74 92 99 100 100

Running 1 2 3 5 8 12 25 45 67

Climbing step 0 0 1 1 3 5 18 46 77

Jumping forward 0 0 0 1 2 5 18 52 84

Reprinted from Palisano RJ, Walter SD, Russell DJ, et al. Gross motor function of children with Down syndrome: creation of motor
growth curves. Arch Phys Med Rehabil. 2001; 82:494-500, with permission from Elsevier.

Aging and Quality of Life

Life expectancy for a person with DS is now about 60 years (3) and depends primarily on risk of mortality (comorbidities) in the first year of
life, especially from congenital heart defects and gastrointestinal anomalies. (30) Because of improved life expectancy, issues associated
with aging adults have become more prevalent (22):

Incidence of mental illness, especially depression, as high as 30% in adults with DS

Incidence of Alzheimer disease in adults with DS more than 50% in the fifth decade of life
Osteopenia and osteoporosis (multiple risk factors) (34)
Increased risk for degenerative joint disease, given the hypotonia, ligamentous laxity, and high incidence of hip, knee, and foot
dysfunction; higher incidence of mid-cervical arthritis compared with the general population (22)

Other general health concerns include the worsening of vision and hearing impairments that were present in childhood and the development
of mitral valve prolapse. (22)

More on Prognosis Full Clinical Summary & References Collapse Window

Intervention

Motor Skill Acquisition | Physical Activity Levels | Specific Interventions | Obesity Prevention

In general, the goals of physical therapy intervention are to:

Enhance rate of acquisition of motor skills.

Prevent occurrence of secondary problems resulting from compensatory.
strategies to overcome hypotonia and joint instability.55
Improve participation in life activities.

Motor Skill Acquisition

One classification system (6) suggests that--for children with mild motor impairments and whose motor function is age-appropriate or
advanced relative to expectations for children with DS -- motor goals can be met through structured play and recreation activities (rather
than physical therapy). For children who have moderate to severe motor impairments and whose motor function is delayed relative to
expectations for children with DS, goals are less likely to be achieved without physical therapy intervention. (6)

Intervention strategies to improve gross motor skills must accommodate for this population's unique learning needs, with the use of:

Sign language and augmentative communication devices, regardless of age (56)

Modeling or imitation of desired movements more than verbal cues (38)
Visual cues rather than verbal instruction with adolescents (57)

The learning style of children with DS is overly dependent on social skills, in that they will pretend to be interested in something else or "turn
on the charm" when faced with a difficult task. (58) They also may have a tendency to "opt out" and refuse to engage when their avoidance
strategies are not successful. (58) This suggests that intervention for people with DS must include:

Appropriate behavioral as well as communication strategies

Collaborative planning with the parent or caregiver to find activities that are motivating and engaging enough to circumvent the typical
pattern of avoidance of difficult tasks

Depending on the age and cognitive development of the child, using distraction and redirection and offering age-appropriate choices or
rewards for appropriate behavior may be effective strategies.

Physical Activity Levels

Age Identified Barriers to Physical Activity Factors Associated With Increased Physical
Group Activity
With DS

Children Impairments of body structure and function associated with DS, Positive family involvement in physical activity, social
competing family responsibilities, reduced physical or behavioral interaction with peers, determination to succeed, and
skills, and lack of accessible programs (19) availability of structured programs (19)

Adults Lack of support, not wanting to engage in physical activity, and Support from others, physical activity that is fun and
medicophysiological factors (59) purposeful, and routine/familiarity (59)

Caregiver and community support in addition to the opportunity for socialization with peers are key aspects of a successful program to
increase physical activity, regardless of age.

Specific Interventions
Many gaps exist in our knowledge of the most appropriate interventions for this population, and the standard of care is still dictated primarily
by physical therapist experience and preference.

Table 7. Evidence for Common Interventions

Intervention Age Range Summary of Evidence Dosage Guidelines

Early Birth-3 y Neurodevelopmental therapy (NDT) focus (60) and training No conclusive data; however,
intervention of the person providing the intervention (55, 61) are not intensity does seem to matter,
significant factors in obtaining best results. and parental involvement and
ability to implement daily
Intensity of intervention and parent investment likely are the activities to promote
keys to progress. (55) development are likely more
important than number of therapy
Parents prefer home-based programs that empower them to visits per week. (55)
provide low-tech strengthening programs for their child. (61)

Treadmill
training
 Infant able to sit Teaching parents to suspend child over a motorized treadmill 8 min/d, 5 d/ wk, is enough to
alone for 30 s (62, to stimulate stepping led to a significantly earlier onset of produce significant results (62);
63) or take 6 steps independent walking (mean improvement of 101 d). (62) adding ankle weights and
on treadmill in 1 increasing belt speed can
min (63, 64) (≈10 Kinematics and maturity/stability of gait pattern also improve results, but asking
mo), or infant able improved. (64, 65) parents to track and manipulate
to take 3-6 too many variables at once can
independent steps Achievement of other motor milestones also positively be overwhelming. (63, 66)
(65) affected. (66)

Best to begin this intervention when stepping pattern is still

variable, inconsistent, and unstable. (63)

Strengthening 13-65 y (67) Progressive resistive exercises are more effective than circuit Two studies used 3x/ wk for 6 wk
training, but both group and individual programs can be (68, 70)
11-14 y (68) effective. Intelligence Quotient (IQ) does not seem to matter,
and even those with moderate to severe intellectual disability One study with adults used 30-35
Men, mean age can benefit. There do not appear to be any reported adverse min, 3x/ wk for 12 wk (69)
=24 y (69) effects. (68) Improvements have been shown in strength,
(67-69) balance skills, (68-70) and jumping skills. (70) Otherwise, no data exist for
3-6 y (70) optimal program (67)

Postural 15-31 mo and 4- 6 Focus on development and refinement of postural synergies; No conclusive data to provide
control y (12) include specific practice and changing task conditions to guidelines at this time. One study
improve motor coordination. (12, 13) Training on unstable used 2x/wk for 12 wk with
16-22 y (13) surfaces, such as therapy balls and pillows, with focus on positive results. (71)
correct posture/neutral pelvis while moving arms or legs
16-18 y (71) produced improvements in single-leg balance and postural
sway. (71)

Sensory 8-10 y (72) Sensory integration therapy for 7- to 10-year-olds improved One study used 1.5 h/wk, 3x/wk,
integration scores on Ayres sensory integration test and fine motor skills; for 3 mo. (72)
adding vestibular activities along with sensory integration
showed improvement with more categories (ie, vestibular
system tests and gravitational insecurity). (72)

Orthoses 3.5-8 y (73) Both shoe inserts/foot orthoses and supramalleolar orthoses No conclusive data; standard of
have been shown to improve gait, balance, and gross motor care currently is to wear orthoses
Mean age=28 mo skills. (73-76) during waking hours, especially
(73) during periods of increased
Standard of care has been to provide orthoses when a child activity.
3-6 y (73) begins to stand with support. One small-scale study
suggested that introducing the orthosis too soon (before
19-24 mo (76) independent walking) may be detrimental, in that the orthosis
will limit exploration and variability of movement. (77)
When able to pull
to stand (75) Current debate is which of these 2 orthoses is more effective
and when to introduce it. Height, weight, BMI, and degree of
4-7 y (78) hypermobility may be key factors in the decision of which
orthosis to use. (78)

Aerobic 10.5 y (79) Improving cardiovascular fitness requires combination of Has to be moderate to high
exercise both aerobic training and strength training because muscle intensity and above/beyond
8-15 y (80) weakness/fatigue is a limiting factor in developing American College of Sports
cardiovascular fitness. (79) Medicine guidelines for people
without impairment: minimum of
Children with DS who learn to ride a bike spend less time in 30 min, 5-6 d/wk (79)
 sedentary activity and more time in moderate to vigorous
activity. Addressing leg strength prior to starting bike program
is recommended. (80)

Bone mineral 10-19 y (81) Progressive resistive exercise (plyometrics, wall push-ups, One study used a protocol of 25
density upper extremity resistance band exercises, medicine ball min, 2x/wk, for 21 wk (81)
(BMD) toss) improved bone mineral content and total lean mass in
children aged 10-19 y. Focus on weight bearing activities
during crucial bone accruing years. (81)

Table 8. Important Intervention Considerations by Age

Focus/ Infant/ Preschool School-Age Adulthood
Important Toddler
Factors

Key goals Acquisition of postural Continue to develop and refine Continue to refine postural control Health promotion,
control, righting and postural control and balance and balance strategies with focus including strength,
balance reactions, and strategies; higher level motor on independent access balance and aerobic
motor milestones— skills such as running, jumping, throughout school and community activities; weight-
especially independent and ball skills to facilitate fitness environments; weight-bearing bearing activities for
ambulation; increase and participation with peers; activities for bone health; bone health; increase
physical activity level increase physical activity level increase physical activity level physical activity level

Intervention Natural environment— School settings (82) or outpatient School settings, (82) outpatient Outpatient centers,
settings typically the home but centers centers, and community community programs
may also include day programs
care or community
locations (82)

Red flags Signs and symptoms of Signs and symptoms of spinal Signs and symptoms of spinal Signs and symptoms
(see also respiratory distress or cord compression, juvenile cord compression, juvenile of spinal cord
Table 9) heart failure, feeding idiopathic arthritis idiopathic arthritis, obesity compression;
difficulties and failure to degenerative joint
thrive, hypothyroidism disease, especially
neck and lower
extremity; mitral valve
prolapse; dementia

Wellness Across the Lifespan: Focus on Obesity Prevention

People with DS have a well-documented tendency for obesity--with half becoming overweight by early childhood. (3) Prevention of obesity
and promotion of a healthy lifestyle is a key area for physical therapists.

Research has shown that teenagers and adults with DS can lose weight and fat mass with appropriate exercise programs (35) and that
exercise has improved lower extremity strength, muscle endurance, and dynamic balance for adult males with DS, (69)

All participants with DS in an exercise program should receive screening for cardiac and musculoskeletal issues to address any potential
barriers and prevent injury that might cause the person to give up the activity. (35) Knee sleeves for patellofemoral instability, orthoses, and
supportive, lace-up shoes have been recommended as strategies. (35)

Barnhart and Connolly (22) recommend exercise programs for adults with DS that focus on strength, cardiovascular fitness, and dynamic
balance. Teenagers with DS have reported a preference for noncompetitive activities, such as jogging or yoga. (35) They also like activities
that don't require ability-matched peers, so that performance is deemphasized. (35) One of the keys to keeping people with DS involved in a
healthy lifestyle long term may be community involvement and maximizing the social benefits of exercising with friends. (83)
One community-based opportunity to promote fitness for individuals with DS is the Special Olympics program. Physical therapists can help
refer individuals with DS to their local Special Olympics program and volunteer to assist with the FUNfitness tests to help athletes compete
safely.

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Medical Management

Comorbidities | Medications

Comorbidities, Medical Management, and Implications for Physical Therapy

People of all ages with DS typically have multiple comorbidities that may require medical management. They may be taking prescription
medication, including medications to improve heart function, control gastroesophageal reflux, manage thyroid dysfunction or diabetes,
improve pulmonary function, manage pain, control seizures, or manage psychiatric conditions such as depression or Alzheimer disease.
People with DS have a higher risk for leukemia and may undergo chemotherapy.

Table 9 (abbrev). Comorbidities in DS and Implications for Physical Therapy

Comorbidities/ Medical Implications for
Incidence/ Intervention Physical Therapy
Systems Review

Cognitive impairment/ Support services, special education IQ is low typical in infancy, decreases in first decade, and plateaus
intellectual disability in adolescence. (10, 30)
100%
Language delay is greater than expected for IQ, but
IQ range typically 35-70 comprehension/receptive language is better than expressive
(30) language. (56)

Severe and profound Anecdotally, language deficiency may be a greater problem than
impairment rare other areas of development. (3, 10, 30)

Congenital heart defects Medications (eg, diuretics, Monitor for signs and symptoms of heart failure and hypertension
(CHD) angiotensin-converting enzyme (HTN), decreased cardiovascular capacity (22)
44%-58% (30) [ACE] inhibitors, and digoxin
[digitalis]) and/or surgery, 1st surgery Normal neonatal examination does not exclude possibility of
Mitral valve prolapse in often at 2-4 mo serious CHD. (30)
46%- 57% of adults, even
with previous normal heart There is higher risk of pulmonary HTN secondary to pulmonary
examination (10, 22) hypoplasia. (85)

Ventricular septal defect Diuretics have serious side effects, such as dehydration and
(VSD) 43% (3) and 33% electrolyte imbalances. Orthostatic hypotension, weakness, and
(30) fatigue also may occur and have an impact on physical therapy
interventions.
Atrial septal defect (ASD)
42% and 54% (30) ACE inhibitors help decrease blood pressure and are generally
tolerated well, but adverse reactions may include gastrointestinal
Atrioventricular canal 39% discomfort, dizziness, chest pain, or a persistent dry cough. (88)
(85)
Digoxin increases the force of the heart muscle contractions, thus
improving the heart’s effectiveness; adverse effects include
cardiac arrhythmias, gastrointestinal distress, drowsiness, fatigue,
confusion, and visual disturbances. (88)

Poor nutritional status may contribute to motor delays and activity

intolerance.
Gastrointestinal (GI) Celiac disease: Gluten free diet
track anomalies (10)
Up to 10% (30) Surgery to correct/restore anatomy

Celiac disease 5%-7% (3,

10, 30)

Duodenal stenosis/atresia
1%-5% (30)

Imperforate anus 1%- 4%

(30)

Hirschsprung disease
1%-3% (30)

Tracheoeshophage al
fistula (TEF) or esophageal
atresia 0.4%-0.8% (30)

Thyroid dysfunction (3) Medication (thyroxine) is standard of Fatigue and poor endurance, muscle and joint aching; increased
15% (27) care (87) sensitivity to cold; depression (3)

28-54x higher than in Decreased motivation, weight gain, dry skin, constipation (22)
general population
The most frequent problem with this medication is either
Frequency increases with underdosing (so that symptoms are not fully resolved) or excess
age (3, 26) and up to 54% drug levels (that may produce signs of hyperthyroidism). (88)
overall (26) Hyperthyroidism may be characterized by nervousness, weight
loss, tachycardia, insomnia, increased appetite, heat intolerance,
Hypothyroidism 0.8%-1.8% and goiter. (88)
newborns

Compensated
hypothyroidism (normal
thyroid hormone with
elevated thyroid-
stimulating hormone [TSH]
25%- 40%

Diabetes mellitus Diet, exercise, medication as needed Obesity is a key risk factor; acanthosis nigricans (dark, creased
1%; increased risk for type areas on skin of neck, axillae, elbows, knuckles, groin and knees)
2 diabetes due to tendency is a sign of insulin resistance; increased thirst
for obesity and large
abdominal fat stores (35)

Leukemia Chemotherapy; possible stem cell Anemia

transplant (86)
Acute myeloid leukemia Poor endurance
(AML)
Fatigue
Acute lymphoblastic
leukemia (ALL)

Transient
myeloproliferative disorder
(TMD) 10% (30)
Osteopenia/ Treatment of endocrine disorders; Increased risk of fracture (3)
osteoporosis adequate calcium and vitamin D
intake; physical activity (87) Exercise alone for adults may not be enough to overcome
Increased risk because of longstanding low BMD; emphasize weight-bearing activities in
delayed maturation, childhood during skeletal growth (22)
delayed motor skills,
hypotonia, and prevalence
of GI anomalies leading to
malabsorption (87)

Thyroid dysfunction;
increased incidence of
epilepsy and
anticonvulsant medication
use (34)

Respiratory disorders Condition specific Use good infection control techniques

Recurrent wheeze in up to
36% (30) May mimic asthma

Tracheolaryngomalacia More and longer hospitalizations

Pulmonary hypoplasia

Subpleural cysts

Skin disorders Condition specific Discomfort with orthoses and handling; follow universal
87% (10) precautions

Eczema

Palmoplanar
hyperkeratosis

Xerosis

Seborrhoeic dermatitis

Folliculitis

Cutis marmorata

Seizures Anticonvulsant medication Discuss with caregiver, know appropriate first aid and emergency
6%-8% (3, 10, 30) response; anticonvulsant medication may affect motor function

Obstructive sleep apnea Supplemental oxygen or continuous Irritability, fatigue, behavioral changes (22)
57% of 3 y o have positive air pressure (CPAP) at night
abnormal sleep study (3)

Behavioral/ mental health Medication, counseling, behavior Simplify instructions, repetition, work with family to identify
issues management plans strategies
18%-38% of those
25.6% of adults diagnosed;
100% of adults >35 show
neuropathological features
(5)
 Attention deficit
hyperactivity disorder
(ADHD) 6.1% (10)

Autism 7%-10% (10)

Conduct/oppositional
disorder 5.4% (10)

Aggressive behavior 6.5%

(10)

Adults:
Depression 6.1% (10)

Aggressive behavior 6.1%

(10)

Alzheimer disease—earlier
onset (10)

Hearing Aggressive treatment of otitis media Discuss communication needs/methods with caregiver, obtain eye
Up to 78% (10) with effusion, ear tubes, contact and speak slowly
tonsillectomy, and adenoidectomy,
Conductive hearing aids, cochlear implants, sign
Sensorineural language, and augmentative
Mixed communication devices

Vision Corrective lens Discuss needs/methods with caregiver, provide pictures and large
Up to 80% (30) print
Surgery if indicated
Refractive errors 35%-76%
(3)

Strabismus 27%- 57% (3)

Nystagmus up to 29% (30)

Congenital cataract 4%-7%

(30)

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Cases

None Available

There are no cases available at this time.

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Full Clinical Summary & References

Overview
Down syndrome (DS) is the most common chromosomal abnormality and results from the presence of full or partial extra copies of the genes on
chromosome 21. The most common cause of intellectual disability (cognitive delay) in the United States, DS is characterized by (1):

Reduced brain volume

Increased risk of abnormality in almost every organ system
Gross motor delays resulting from hypotonia, ligamentous laxity, and reduced brain volume, especially in the cerebellum

Incidence
Incidence increases as maternal age increases. For women at 20 years of age, the incidence is 1 in 2,000; for women at 40 years of age, the
incidence rises to 1 in 100. (1) In the United States, approximately 6,000 babies per year are born with DS. (2, 3)

Developmental Milestones and Participation Restrictions

Children with DS have global delays in meeting developmental milestones, and all have some degree of intellectual disability. They are most
delayed in achieving gross motor milestones that require postural control and coordination, such as walking, running, and jumping. Obesity and
poor fitness may limit participation as well. Ultimately, the factors that most limit participation for people with DS are (1, 4, 5):

Cognitive impairment
Deficits in expressive language
Verbal short-term memory

Pathoanatomical Features
Although multiple systems may be affected by DS, musculoskeletal and neurological abnormalities are present to some degree in every child,
whereas the involvement of other systems varies. For physical therapists, the following pathoanatomical features are most relevant to the clinical
presentation of DS:

Musculoskeletal (1)

Hypotonia, or reduced resting muscle tone and decreased resistance to passive stretch
Ligamentous laxity, resulting in joint hypermobility
Neurological (1, 5)

Reduced brain volume

Smaller frontal and temporal areas
Smaller cerebellum-critical for postural control and balance
Smaller hippocampus-critical for long-term memory

Classification
Karyotypes
Down syndrome traditionally has been classified according to 3 karyotypes (1):

Trisomy: 95% of cases; nondisjunction error (failure of chromosome pair from 1 parent to separate), most commonly during meiosis I,
resulting in an extra copy of the long arm of chromosome 21 and thus increased expression of those genes
Translocation: 4% to 5% of cases; attachment of the long arm of the extra chromosome 21 to chromosome 14, 21, or 22
Mosaic: 1% to 2% of cases; nondisjunction error during mitosis, resulting in some but not all genes having the error and the resultant
increased expression

Severity and Ability

Palisano et al (6) proposed a classification system based on severity of hypotonia, level of ability to initiate movements against gravity, and
overall gross motor abilities.

Table 1. Classification Proposed by Palisano et al (6)

Mild Moderate Severe

Movement patterns similar to those of children Able to initiate, adapt, and sustain movements Difficulty initiating, adapting, and
without DS at a similar stage of motor during play, but movement patterns less efficient sustaining movements during play;
development; sufficient muscle tone, strength, than those of children without DS frequency of movement and
 and voluntary control to initiate, adapt, and Movements characterized by excessive motion in physical endurance may be limited
sustain movements during play some weight-bearing joints, a wide base of support,
Movement patterns inefficient and
reduced balance, and compensatory movements
characterized by compensations
when muscle tone and strength not adequate to
that reflect low muscle tone,
meet the demands of a task
reduced strength, and limitations in
voluntary control of movement

Clinical Presentation
Classification by clinical presentation can be based on impairments of body functions and structures, activity limitations, physical activity level,
and participation restrictions:

Body Functions and Structures - Primary Impairments

Hypotonia and reduced postural tone (6, 7)

Ligamentous laxity and joint hyperextensibility (6)
Poor postural control and balance (6)
Decreased strength in hip abductors and knee extensors (8)

Body Functions and Structure - Secondary Impairments

Use of co-contraction as an adaptive strategy, (9) which may be insufficient or inadequate as a strategy (7)
Insufficient balance reactions (7)
Reduced proprioception (7)

Activity Limitations

Motor patterns are delayed and emerge under the influence of poor postural control, leading to compensatory strategies. (10)
Motor delays get worse with age, especially after 6 months of age; rate of acquisition of skills fails to keep pace with typically developing
children. (11)
Difficulty assuming and holding postures against gravity, leading to poor-quality and inefficient motor skills. (7)
Only those equilibrium reactions necessary to acquire a particular motor milestone are learned, and adaptability in what is learned is
minimal. (11)
Postural responses to external perturbations are slow and often insufficient, in addition to difficulty with resolving sensory conflict and
adapting to changing environmental conditions. (12)
Deficits in postural control in both anterior-posterior and medial-lateral directions persist in adolescents and young adults with DS. (13)
Gait deficits: Overall, children with DS have a decrease in gait velocity and stride length, as well as an increase in step width. Toddlers with
DS are more likely to have wider step width and use more conservative strategies (ie, crawling vs stepping) when faced with an obstacle,
compared with peers who are developing typically. (14) Increased knee flexion at initial contact and throughout stance secondary to overall
muscle weakness. (15)
Children with DS perform poorly on reaching tasks that require motor planning and also have less efficient reach strategies. (16)
Sensory integration problems have been identified by a parent survey, including low energy, sensory seeking behaviors, low registration of
sensory input, difficulty with transitions, tactile sensitivity, and auditory filtering and difficulty with noisy situations. (17)

Physical Activity Levels

Overall, individuals with DS are less physically active across the lifespan and fail to meet the recommended 60 minutes of daily moderate
physical activity and 3 days per week of vigorous physical activity. (18-20)
Individuals with DS participate in significantly less physical activity than individuals with intellectual disability but without DS. (20)
Youth with DS (aged 11-18 y) have significantly decreased running performance (number of laps completed) on the 20-meter shuttle run
test than either youths who have intellectual disability but not DS or youths who do not have intellectual disability. (21)

Participation Restrictions

Children with DS have a decreased ability to keep up with their peers in play and recreational opportunities, such as on the playground, at
recess, or in a park. (6)
Adults with DS have limited work and recreational opportunities because of their unique physical and medical issues that become more of
a factor with age. (22)
Screening
Motor and Developmental Delay
Because all children with DS have global developmental delays, screening for motor delay is not as frequent, and most children with DS are
qualified for physical therapist services based on the diagnosis of DS alone; however, many screening screening tools are available. Table 2 lists
3 of the most commonly used tools whose psychometric properties have been reported in the literature.

Table 2. Some Commonly Used Motor and Developmental Delay Screening Tools
Tool Age Areas
Range Screened

Ages and Stages Questionnaire (23) 1 to 66 Communication

mo
Gross motor

Fine motor

Problem
solving

Personal-social

Bayley Scales of Infant and Toddler Development Screening Test (http://ptnow.org/tests-detail/bayley-scales-of- 1 to 42 Gross motor
infant-toddler-developmentiii-ed-) (24) mo
Fine motor

Cognitive

Language

Denver II (25) Birth to Gross motor

6y
Fine motor-
adaptive

Personal-social

Language

Musculoskeletal Conditions
Children more than 6 years of age with DS and adults with DS should be screened for specific musculoskeletal concerns. Hypotonia,
ligamentous laxity, and a tendency for obesity all contribute to the unique needs of this population.

Table 3. Musculoskeletal Screening for Older Children and Adults

Condition and Signs and Intervention Implications for Physical
Incidence Symptoms Therapy

Atlanto-occipital Easy fatigability According to a policy statement of the American If symptomatic, refer immediately
instability (AAI) Academy of Pediatrics Committee on Genetics (27): If for neurosurgical consult (26)
Difficulties in walking symptomatic, plain cervical radiographs in neutral
15%, but only 2% are position; if abnormalities noted, immediately refer to High rate of postoperative
symptomatic (3, 26) Abnormal gait or neurosurgeon; if no abnormalities, repeat radiographs in stabilization complications,
change in gait flexion and extension regardless of technique (28)

Neck pain or If asymptomatic, routine radiographic evaluation is not If asymptomatic, be most aware
 torticollis (26) recommended; counsel parents to be aware of cervical with any activity that manipulates
spine positioning precautions for during medical the neck; avoid contact sports,
Limited neck mobility procedures and that some sports/activities may diving, and gymnastics;
increase the risk of spinal cord injury. swimmers start in pool vs blocks
Change in hand if instability is present (28)
function The following is controversial, and other authors provide
different recommendations: Special Olympics requires
New onset of urinary radiographic screening in order to
retention or Radiographs at 3-5 y of age—screen once in preschool participate in certain sports that
incontinence years, plain films in neutral If no abnormalities, obtain are considered to stress the
radiographs in flexion and extension (3) cervical spine. (29)
Incoordination or
clumsiness Instability on radiograph does not necessarily mean at Treat all people with DS as "at
risk for spinal cord injury, and finding instability does not risk" (26)
Sensory impairments mean it will progress to subluxation (26)

Spasticity, "Current screening is neither cost effective nor specific

hyperreflexia, or and does not reliably determine which individuals with
positive Babinski AAI are at risk for subluxation and cord compression."
sign (26) (26p147) However, still prudent to continue current
screening at age 3-5 y but also obtain neural canal
width measurements (26)

Scoliosis Spinal curvature, rib Surgical stabilization indicated same as with idiopathic All grade school children should
hump with forward scoliosis with typical children; bracing does not appear be routinely examined for
Varies with population bend test to stop progression; high rate of postoperative scoliosis, especially those who
studied (institution vs. complications (28) have history of thoracotomy (28)
acute care) but higher
than rate of idiopathic
scoliosis in typical
children (28)

Increased incidence
after thoracotomy for
cardiac surgery (28)

Arthritis Joint pain and/or Debate over whether this is truly JIA or unique Refer to rheumatologist for
swelling and limited arthropathy given the genetic and immunologic factors unexplained joint pain or pain in
Juvenile idiopathic range of motion with DS; generally polyarticular, progressive and must multiple joints that limits function
arthritis (JIA) 1.2% (ROM) be medically managed by rheumatologist (28)
(28)

Hip dislocation or Limp, poor gait or No universally accepted treatment protocol (28) Habitual dislocation may occur in
subluxation; slipped even refusal to walk, young children, or acute
capital femoral hip or knee pain SCFE—poorer prognosis for kids with DS vs. typical dislocation after age 7 y (28)
epiphysis (SCFE); children (30)
Perthes disease Can be challenging Screen hip ROM and symmetry,
to identify because of especially with change in
Up to 30% (30) cognitive and previous gait or function
communication
impairments

Patellar Instability Frequent falls, Bracing for mild instability May be a component of functional
limping and knee balance problems or a limiting
10% to 20% (30) pain (31) Degree of Surgical correction to centralize patella, balance muscle factor in increasing physical
instability does not and soft tissue; bony procedures done at skeletal activity for weight management
 always correlate with maturity (28)
functional limitations
(31) Lateral release alone ineffective (31)

Foot deformities— Overpronation, Footwear modification or shoe inserts typically Foot pain may be limiting factor in
pes planus, hallux malalignment successful; increasing physical activity for
valgus Very common weight management
(28) Severe hallux valgus may require surgery to correct
Assess footwear; orthoses may
be indicated

Comorbidities
Children with DS may have multiple medical issues in addition to developmental delays.

The following comorbidities are present in some but not all people with DS and should be screened:

Cognitive impairment/intellectual disability

Congenital heart defects
Gastrointestinal tract anomalies
Thyroid dysfunction
Diabetes mellitus
Leukemia
Osteopenia/osteoporosis
Respiratory disorders
Skin disorders
Seizures
Obstructive sleep apnea
Behavioral/mental health issues
Hearing impairment
Visual impairment

Guidelines for screening have been developed for people with DS throughout the lifespan: children, (27) adolescents, (32) and adults. (33)
Although these guidelines are directed toward physicians, some of the recommendations are relevant for physical therapists. For example, any
adult with DS who has 2 or more risk factors (eg, anticonvulsant medications, limited mobility, and thyroid disorder) should be screened for low
bone mineral density (BMD). (34) Physical therapists need to be aware of these risk factors and refer people with DS for physician care as
appropriate.

Examination
History
The history is obtained primarily from the parent or caregiver and contains details similar to the history conducted with any other pediatric patient.
The systems review is key to provide a complete picture of health status and comorbidities common to DS that may influence motor development
and general prognosis.

Questions about developmental history and when motor milestones were achieved provide information about the severity of the motor
impairments and help set realistic goals and improve the accuracy of the prognosis.

Questions specific to physical activity levels, current level of participation, and family and patient goals should be included, with the focus on
identifying family and patient-specific barriers to increased participation.

Body Functions and Structures

Anthropomorphic Measures: Height, weight, and body mass index (BMI) should always be screened and tracked. Waist circumference
measurement may be helpful in monitoring obesity.

Vital Signs: Best practice is to always check heart rate, respiratory rate, and blood pressure at each session. In addition, careful auscultation
can help identify developing cardiac issues. Although congenital heart defects are better known and recognized, teenagers and adults with DS
also have an increased risk of developing mitral valve prolapse. There may be a late systolic crescendo-decrescendo murmur, with a mid-systolic
click best heard at apex, or aortic regurgitation, which is a blowing, decrescendo diastolic murmur best heard at third left intercostal space.(35)
Referral to and collaboration with the patient's physician is important.

Range of Motion (ROM): Standard goniometric measurements should be taken whenever joint ROM (either limited or excessive) is a concern.

Strength: In children with DS who can follow simple directions, strength can be formally assessed through manual muscle testing (MMT). One
study found that children with DS between 7 and 15 years of age were able to be successful with hand-held dynamometry with "practice,
encouragement and feedback." (8) Using the mean of the best 3 trials, the study found that reliability was better with 8 trials but still acceptable
with 4. For younger children or those unable to follow MMT directions, the physical therapist can make careful observation of functional
movements to assess strength. The Special Olympics FUNfitness test
(http://www.specialolympics.org/Sections/What_We_Do/Healthy_Athletes/Healthy_Athletes_FUNfitness.aspx) also could be adapted for this
purpose. (36)

Activity Limitations
Gross Motor Function Measure (GMFM): The GMFM is a criterion-referenced test that has been specifically validated for children with DS. (37)
It has become a standard in research and is the basis for some of the best prognostic data available. This test is divided into 5 subscales: Lying
and Rolling; Sitting; Crawling and Kneeling; Standing; and Walking, Running and Jumping. Although a specific age-range is not identified, the
gross motor skills included are ones that a 5-year-old with typical development would pass. (37) Based on the motor delays expected with DS,
the GMFM likely could be used through middle childhood years without reaching a ceiling effect. This test uses a 4-point scoring system and has
been shown to be sensitive to small but meaningful changes. (37) It can help identify whether a child is advanced, age-appropriate, or delayed
compared to expectations for a child with DS through the use of motor growth curves. (6)

The GMFM was found to be relatively more responsive to change than Bayley Scales of Infant Development (2nd edition), (38) which has long
been the gold standard in research. The following recommendations were made to improve the ease and accuracy of testing children with DS
using the GMFM. (38) Table 4 lists commonly used tools whose psychosometric properties have been reported in the literature:

Use parent report when a child isn't cooperative with testing.

Use modeling/imitation in place of verbal cues and keeping verbal communication limited, simple, and direct.
Tag-team with someone so that one person interacts and models skills while the other observes and scores.
Structure the environment to limit distractions.
Avoid open-ended questions.
Start with items that reflect the child's preferred postures and movements.

Performance of a more difficult skill can lead to automatic scoring of precursor skills, and, for children older than 3 years, testing Dimensions D
(Standing) and E (Walking, Running, and Jumping) only is acceptable.

Table 4. Standardized Tests Commonly Used to Assess Acquisition of Motor Milestones

Tool Age Range Areas Tested Unique Characteristics

Gross Motor Function Measure (http://ptnow.org/tests- Typically Gross motor Research on prognosis (motor growth
detail/gross-motor-function-measure-gmfm--down- developing 5 y curves) based on this test; validated for
syndrome-d) (GMFM) (38) o would pass DS
all items

Peabody Developmental Motor Scales, 2nd edition Birth-72 mo Gross motor (reflexes, Scaled scores allow for comparing child
(39) stationary, locomotion, to self over time to assess progress from
object manipulation) one testing date to the next

Fine motor (grasping,

visual-motor
integration)

Bayley Scales of Infant Development 1-42 mo Cognitive Widely used in research and the gold
(http://www.ptnow.org/ClinicalTools/Tests/Detail.aspx? standard on which most other
cid=e5b1328d-50c9-45eb-9dbe-cc07fd801f59), 3rd Language developmental assessments have been
edition (40) based
Motor
 Adaptive behavior

Social-emotional

Pediatric Evaluation of Disability Inventory (PEDI) (41) 6 mo-7 1/2 y Self-care Allows for consideration of caregiver
assistance and environmental
Mobility and transfers modifications necessary for successful
performance
(Social function
section—see Table 4)

Bruininks-Oseretsky Test of Motor Proficiency, 2nd 4-21 y Fine motor control Only standardized tool for individuals up
edition (BOT-2) (42) to age 21 y
Manual coordination

Body coordination

Strength and agility

Movement Assessment Battery for Children, 2nd 3-12 y Manual dexterity Provides information about quality,
edition (Movement ABC-2) (43) quantity, and context of performance
Ball skills

Balance (static and

dynamic)

Test of Basic Motor Skills of Children with Down Specific for 15 items with a Relatively new; developed in the
syndrome (BMS) (44) children with postural control Netherlands; similar responsiveness to
DS framework change as GMFM

Test of Gross Motor Development, 2nd edition (45) 3-10 y Locomotor (run, Standard scores, gross motor quotient,
gallop, hop, leap, and percentile ranks available
horizontal jump, slide)

Object Control (ball

skills)

Postural control/balance: Although several of the standardized tests have components that assess postural control and balance, individualized
tests can be used, such as single-leg stance time or a test such as the Berg Balance Scale (BBS) or the Pediatric Balance Scale, which is a
modified (item sequence and instructions) version of the BBS for school-aged children with mild to moderate motor impairments. (46)

Gait: Observational gait analysis is a method of gait analysis used in the clinical setting. One scale has been specifically designed for children
with DS based on the most common gait deviations observed. (47) This scale uses a 0 to 3 scoring system (0=within normal range,
1=inconsistently normal, 2=mild to moderate deviation, 3=marked deviation) for 6 aspects of gait: upper extremities, trunk, hip position in terminal
stance, knee position in midstance, foot position at initial contact, and base of support. Scores for each body segment are operationally defined,
and the inclusion of "inconsistently normal" is intended to help identify emerging skill. Although this tool is quick and easy to use, has acceptable
interrater and intrarater reliability, and provides an objective description of gait, (47) its validity and clinically meaningful change in score have not
been investigated.

Participation Restrictions
Participation is an area that has not yet been well researched for children with disabilities, and this is especially true for children (and adults) with
DS. Few tools and few data are available.

Table 5. Some Tools Used to Assess Participation

Tool Age Range Areas Assessed General Information
 Children's Assessment of 6 to 21 y with at Recreational Reliability and content and construct validity have been
Participation and Enjoyment least minimal reported, but responsiveness to change has not;
(CAPE) and Preferences for cognitive and Active physical translation into meaningful assessment requires a lot of
Activities for Children (PAC) communication interpretation on the administrator’s part (49)
(48) abilities Social
PAC is companion measure to CAPE
Skill-based

Self-improvement

School Function Assessment Kindergarten 3 parts: participation, task Only used in school setting; designed to help
(50) through 6th supports, and activity collaborative planning and must be completed by at
grade performance considered in least 2 people who interact with the child regularly
the following environments or
activities: Skills reported at 6 levels ranging from extremely
limited to full.
Classroom

Playground

Transportation

Toileting

Transitions

Mealtime

Pediatric Evaluation of 6 mo-7 1/2 y Social function Allows for consideration of caregiver assistance and
Disability Inventory (PEDI) environmental modifications necessary for successful
(41) performance

Diagnosis
The medical diagnosis can be made prenatally during the first trimester with a rate of detection of 82% to 87%, using screening that involves
maternal age, nuchal translucency, ultrasonography, and maternal blood tests. (3) Second trimester quad screening (measurement of 4 elements
in maternal serum) has a detection rate of 80%. Integrated first and second semester screening improves the detection rate to 95%. (3)

Physical appearance at birth leads to the suspicion of the diagnosis. The most reliable characteristics include small ears, a wide space between
the first and second toes, small inter-nipple distance, Brushfield spots (colored speckles in the iris of the eye), and an increased nuchal (neck)
skinfold. (30) Hypotonia, a flat face with upward slant of the eye split, and brachycephaly (flattened posterior aspect of skull) also are considered
reliable and discriminative signs. (30) Chromosome analysis, or karyotyping, is the gold standard for diagnosis. (30)

Based on data from 2 surveys of pediatric physical therapists and occupational therapists, 7 key characteristics are associated with the human
movement system dysfunction of hypotonia, one of key features of DS. (51, 52) In the diagnostic process, physical therapists should focus on
determining the presence or absence of:

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

Prognosis
Motor Development
Motor growth curves show that motor skills (as assessed by the GMFM) improve most rapidly at younger ages and the rate of improvement
levels off as the child nears the upper limit of function (6):

Most infants up to 18 months of age are working on the ability to sit and move on the floor.
Most children 18 months to 3 years of age are working on learning to stand alone and walk.
Most children 3 to 6 years of age are working on learning to run, walk up and down stairs, and jump.
All children with DS, regardless of severity, will need more time to learn skills as movement complexity increases.

High amounts of leg activity (moderate to vigorous kicking) in infants with DS aged 12 to 14 months have been shown to be significantly related
to earlier onset of independent walking. (53) Other researchers found that children with DS who were leaner (decreased BMI) and more
physically active were stronger, specifically in the hip abductor and knee extensor muscle groups. (8)

Predicted probability percentages (6) (Table 5) can be used to anticipate when a child with DS will most likely master a skill and can be used to
help physical therapists and parents identify a child's progress compared to the expected progress for children with DS.

Table 6. Predicted Probability (%) of Achieving Gross Motor Functions Across Ages for
Children With DS Based on Logistic Regression (6)
Age (Months)

Milestone 6 12 18 24 30 36 48 60 72

Rolling 51 64 74 83 89 93 97 99 100

Sitting 8 78 99 100 100 100 100 100 100

Crawling 10 19 34 53 71 84 96 99 100

Standing 4 14 40 73 91 98 100 100 100

Walking 1 4 14 40 74 92 99 100 100

Running 1 2 3 5 8 12 25 45 67

Climbing step 0 0 1 1 3 5 18 46 77

Jumping forward 0 0 0 1 2 5 18 52 84

Reprinted from Palisano RJ, Walter SD, Russell DJ, et al. Gross motor function of children with Down syndrome: creation of motor growth
curves. Arch Phys Med Rehabil. 2001; 82:494-500, with permission from Elsevier.

Aging and Quality of Life

Life expectancy for a person with DS is now about 60 years (3) and depends primarily on risk of mortality (comorbidities) in the first year of life,
especially from congenital heart defects and gastrointestinal anomalies. (30) Lung and airway diseases are a major cause of morbidity and
hospitalization for young infants, especially those with congenital heart defects and gastrointestinal anomalies. (54)

Because of improved life expectancy, issues associated with aging adults have become more prevalent. One of the most prominent concerns is
mental health, with an incidence of mental illness, especially depression, as high as 30% in adults with DS. (22)

Alzheimer-type dementia is far more prevalent in adults with DS than in the general population. All adults with DS show the characteristic
neuropathological features of Alzheimer disease by 35 years of age, (5) but they may not show clinical signs of dementia. The incidence of
Alzheimer disease in adults with DS is reported to be more than 50% in the fifth decade of life. (22)

Musculoskeletal conditions also are a significant consideration. Adults with DS have multiple risk factors for osteopenia and osteoporosis,
including (34):

Abnormal sexual development

 High incidence of thyroid disorders
Increased use of anticonvulsant medication
Hypotonia
Sedentary lifestyle

Aging adults with DS are at increased risk for degenerative joint disease, given their hypotonia, ligamentous laxity, and high incidence of hip,
knee, and foot dysfunction. They also have been reported to have a higher incidence of mid-cervical arthritis compared with the general
population. (22) Pain as a result of these conditions may be a major factor in limiting function.

Other general health concerns include the worsening of vision and hearing impairments that were present in childhood and the development
of mitral valve prolapse. Barnhart and Connolly (22) published a summary of the issues surrounding aging in DS with a specific focus on the
implications for physical therapists.

Intervention
In general, the goals of physical therapy intervention are to:

Enhance rate of acquisition of motor skills.

Prevent occurrence of secondary problems resulting from compensatory. strategies to overcome hypotonia and joint instability. (55)
Improve participation in life activities.

Motor Skill Acquisition

Although the classification system developed by Palisano and colleagues (6) is not yet widely used, it suggests that--for children with mild motor
impairments and whose motor function is age-appropriate or advanced relative to expectations for children with DS-- motor goals can be met
through structured play and recreation activities (rather than physical therapy). For children who have moderate to severe motor impairments and
whose motor function is delayed relative to expectations for children with DS, goals are less likely to be achieved without physical therapy
intervention. (6)

Given the intellectual disability and language impairments that, for the most part, are universal for people with DS, intervention strategies to
improve gross motor skills must accommodate for this population's unique learning needs:

Use sign language and augmentative communication devices to improve effectiveness, regardless of age. (56)
Limit verbal cues and instead use more modeling or imitation of desired movements to improve effectiveness. (38)
Use visual cues with adolescents who have DS, as they have been shown to perform better with visual cues than with verbal instruction.
(57)
The learning style of children with DS has been described as overly dependent on social skills, in that they will pretend to be interested in
something else or "turn on the charm" when faced with a difficult task. (58) They also may have a tendency to "opt out" and refuse to engage
when their avoidance strategies are not successful. (58) This suggests that intervention for people with DS must include:

Appropriate behavioral as well as communication strategies

Collaborative planning with the parent or caregiver to find activities that are motivating and engaging enough to circumvent the typical
pattern of avoidance of difficult tasks
Depending on the age and cognitive development of the child, using distraction and redirection and offering age-appropriate choices or rewards
for appropriate behavior may be effective strategies.

Physical Activity Levels

For children with DS, identified barriers to physical activity include the characteristics (body structure and function) associated with DS,
competing family responsibilities, reduced physical or behavioral skills, and lack of accessible programs. (19) For adults with DS, barriers have
been identified as lack of support, not wanting to engage in physical activity, and medicophysiological factors. (59)

Physical activity of children with DS was found to improve in the presence of positive family involvement in physical activity, social interaction with
peers, determination to succeed, and availability of structured programs. (19) For adults with DS, support from others, physical activity that was
fun and purposeful, and routine/familiarity were identified as facilitators of increased physical activity. (59)

The commonalities between children and adults have important implications for interventions across the lifespan: caregiver and community
support in addition to the opportunity for socialization with peers are key aspects of a successful program to increase physical activity, regardless
of age.

Specific Interventions
Although some research has been done on the efficacy of various interventions for persons with DS, many of the studies have small samples or
are poor quality. Many gaps exist in our knowledge of the most appropriate interventions for this population, and the standard of care is still
dictated primarily by physical therapist experience and preference.

Table 7. Evidence for Common Interventions

Intervention Age Range Summary of Evidence Dosage Guidelines

Early Birth-3 y Neurodevelopmental therapy (NDT) focus (60) and training of No conclusive data; however,
intervention the person providing the intervention (55, 61) are not significant intensity does seem to matter, and
factors in obtaining best results. parental involvement and ability to
implement daily activities to
Intensity of intervention and parent investment likely are the promote development are likely
keys to progress. (55) more important than number of
therapy visits per week. (55)
Parents prefer home-based programs that empower them to
provide low-tech strengthening programs for their child. (61)

Treadmill Infant able to Teaching parents to suspend child over a motorized treadmill to 8 min/d, 5 d/ wk, is enough to
training sit alone for 30 stimulate stepping led to a significantly earlier onset of produce significant results (62);
s (62, 63) or independent walking (mean improvement of 101 d). (62) adding ankle weights and
take 6 steps increasing belt speed can improve
on treadmill in Kinematics and maturity/stability of gait pattern also improved. results, but asking parents to track
1 min (63, 64) (64, 65) and manipulate too many
(≈10 mo), or variables at once can be
infant able to Achievement of other motor milestones also positively affected. overwhelming. (63, 66)
take 3-6 (66)
independent
steps (65) Best to begin this intervention when stepping pattern is still
variable, inconsistent, and unstable. (63)

Strengthening 13-65 y (67) Progressive resistive exercises are more effective than circuit Two studies used 3x/ wk for 6 wk
training, but both group and individual programs can be (68, 70)
11-14 y (68) effective. Intelligence Quotient (IQ) does not seem to matter,
and even those with moderate to severe intellectual disability One study with adults used 30-35
Men, mean age =24 can benefit. There do not appear to be any reported adverse min, 3x/ wk for 12 wk (69)
y (69) effects. (68) Improvements have been shown in strength, (67-
69) balance skills, (68-70) and jumping skills. (70) Otherwise, no data exist for
3-6 y (70) optimal program (67)

Postural 15-31 mo and 4- 6 y Focus on development and refinement of postural synergies; No conclusive data to provide
control (12) include specific practice and changing task conditions to guidelines at this time. One study
improve motor coordination. (12, 13) Training on unstable used 2x/wk for 12 wk with positive
16-22 y (13) surfaces, such as therapy balls and pillows, with focus on results. (71)
correct posture/neutral pelvis while moving arms or legs
16-18 y (71) produced improvements in single-leg balance and postural
sway. (71)

Sensory 8-10 y (72) Sensory integration therapy for 7- to 10-year-olds improved One study used 1.5 h/wk, 3x/wk,
integration scores on Ayres sensory integration test and fine motor skills; for 3 mo. (72)
adding vestibular activities along with sensory integration
showed improvement with more categories (ie, vestibular
system tests and gravitational insecurity). (72)

Orthoses 3.5-8 y (73) Both shoe inserts/foot orthoses and supramalleolar orthoses No conclusive data; standard of
have been shown to improve gait, balance, and gross motor care currently is to wear orthoses
Mean age=28 mo skills. (73-76) during waking hours, especially
(73) during periods of increased
Standard of care has been to provide orthoses when a child activity.
 3-6 y (73) begins to stand with support. One small-scale study suggested
that introducing the orthosis too soon (before independent
19-24 mo (76) walking) may be detrimental, in that the orthosis will limit
exploration and variability of movement. (77)
When able to pull to
stand (75) Current debate is which of these 2 orthoses is more effective
and when to introduce it. Height, weight, BMI, and degree of
4-7 y (78) hypermobility may be key factors in the decision of which
orthosis to use. (78)

Aerobic 10.5 y (79) Improving cardiovascular fitness requires combination of both Has to be moderate to high
exercise aerobic training and strength training because muscle intensity and above/beyond
8-15 y (80) weakness/fatigue is a limiting factor in developing American College of Sports
cardiovascular fitness. (79) Medicine guidelines for people
without impairment: minimum of
Children with DS who learn to ride a bike spend less time in 30 min, 5-6 d/wk (79)
sedentary activity and more time in moderate to vigorous
activity. Addressing leg strength prior to starting bike program is
recommended. (80)

Bone mineral 10-19 y (81) Progressive resistive exercise (plyometrics, wall push-ups, One study used a protocol of 25
density upper extremity resistance band exercises, medicine ball toss) min, 2x/wk, for 21 wk (81)
(BMD) improved bone mineral content and total lean mass in children
aged 10-19 y. Focus on weight bearing activities during crucial
bone accruing years. (81)

Table 8. Important Intervention Considerations by Age

Focus/ Infant/ Preschool School-Age Adulthood
Important Toddler
Factors

Key goals Acquisition of postural Continue to develop and refine Continue to refine postural control Health promotion,
control, righting and postural control and balance and balance strategies with focus including strength,
balance reactions, and strategies; higher level motor skills on independent access throughout balance and aerobic
motor milestones— such as running, jumping, and ball school and community activities; weight-
especially independent skills to facilitate fitness and environments; weight-bearing bearing activities for
ambulation; increase participation with peers; increase activities for bone health; increase bone health; increase
physical activity level physical activity level physical activity level physical activity level

Intervention Natural environment— School settings (82) or outpatient School settings, (82) outpatient Outpatient centers,
settings typically the home but centers centers, and community programs community programs
may also include day
care or community
locations (82)

Red flags Signs and symptoms of Signs and symptoms of spinal cord Signs and symptoms of spinal cord Signs and symptoms of
(see also respiratory distress or compression, juvenile idiopathic compression, juvenile idiopathic spinal cord
Table 9) heart failure, feeding arthritis arthritis, obesity compression;
difficulties and failure to degenerative joint
thrive, hypothyroidism disease, especially
neck and lower
extremity; mitral valve
prolapse; dementia
Wellness Across the Lifespan: Focus on Obesity Prevention
People with DS have a well-documented tendency for obesity--with half becoming overweight by early childhood (3)--because of multiple factors,
including (35):

High rate of hypothyroidism

Large abdominal fat stores
Lower resting metabolic rate
Hypotonia and ligamentous laxity, making activity more difficult
Intellectual disability and behavioral issues
Chewing difficulties
Increased leptin, a hormone that stimulates satiety (having too much leptin is thought to be a risk factor for obesity because the body
becomes desensitized to it)

Prevention of obesity and promotion of a healthy lifestyle is a key area in which physical therapists can contribute to the overall well-being of this
population.

Research has shown that teenagers and adults with DS can lose weight and fat mass with appropriate exercise programs (35) and that exercise
has improved lower extremity strength, muscle endurance, and dynamic balance for adult males with DS. (69)

All participants with DS in an exercise program should receive screening for cardiac and musculoskeletal issues to address any potential barriers
and prevent injury that might cause the person to give up the activity. (35) Knee sleeves for patellofemoral instability, orthoses, and supportive,
lace-up shoes have been recommended as strategies. (35)

Barnhart and Connolly (22) recommend exercise programs for adults with DS that focus on strength, cardiovascular fitness, and dynamic
balance. Teenagers with DS have reported a preference for noncompetitive activities, such as jogging or yoga. (35) They also like activities that
don't require ability-matched peers, so that performance is deemphasized. (35) One of the keys to keeping people with DS involved in a healthy
lifestyle long term may be community involvement and maximizing the social benefits of exercising with friends. (83)

One community-based opportunity to promote fitness for individuals with DS is the Special Olympics program. The Special Olympics mission
statement is "to provide year-round sports training and athletic competition in a variety of Olympic-type sports for children and adults with
intellectual disabilities, giving them continuing opportunities to develop physical fitness, demonstrate courage, experience joy and participate in a
sharing of gifts, skills and friendship with their families, other Special Olympics athletes and the community." (84) Physical therapists can help
refer individuals with DS to their local Special Olympics program and volunteer to assist with the FUNfitness tests to help athletes compete
safely.

Medical Management
Comorbidities, Medical Management, and Implications for Physical Therapy
People of all ages with DS typically have multiple comorbidities that may require medical management. They may be taking prescription
medication, including medications to improve heart function, control gastroesophageal reflux, manage thyroid dysfunction or diabetes, improve
pulmonary function, manage pain, control seizures, or manage psychiatric conditions such as depression or Alzheimer disease. People with DS
have a higher risk for leukemia and may undergo chemotherapy.

Table 9. Comorbidities in DS and Implications for Physical Therapy

Comorbidities/ Screening Medical Implications for
Incidence/ or Intervention Physical Therapy
Systems Review Diagnosis

Cognitive impairment/ Standard IQ tests, Support services, special IQ is low typical in infancy, decreases in first decade,
intellectual disability developmental tests education and plateaus in adolescence. (10, 30)
100%
Language delay is greater than expected for IQ, but
IQ range typically 35- comprehension/receptive language is better than
70 (30) expressive language. (56)

Severe and profound Anecdotally, language deficiency may be a greater

impairment rare problem than other areas of development. (3, 10, 30)
Congenital heart Newborn Medications (eg, diuretics, Monitor for signs and symptoms of heart failure and
defects (CHD) echocardiogram (10) angiotensin-converting hypertension (HTN), decreased cardiovascular capacity
44%-58% (30) enzyme [ACE] inhibitors, and (22)
digoxin [digitalis]) and/or
Mitral valve prolapse in surgery, 1st surgery often at 2- Normal neonatal examination does not exclude
46%- 57% of adults, 4 mo possibility of serious CHD. (30)
even with previous
normal heart There is higher risk of pulmonary HTN secondary to
examination (10, 22) pulmonary hypoplasia. (85)

Ventricular septal Diuretics have serious side effects, such as dehydration

defect (VSD) 43% (3) and electrolyte imbalances. Orthostatic hypotension,
and 33% (30) weakness, and fatigue also may occur and have an
impact on physical therapy interventions.
Atrial septal defect
(ASD) 42% and 54% ACE inhibitors help decrease blood pressure and are
(30) generally tolerated well, but adverse reactions may
include gastrointestinal discomfort, dizziness, chest
Atrioventricular canal pain, or a persistent dry cough. (88)
39% (85)
Digoxin increases the force of the heart muscle
contractions, thus improving the heart’s effectiveness;
adverse effects include cardiac arrhythmias,
gastrointestinal distress, drowsiness, fatigue, confusion,
and visual disturbances. (88)

Gastrointestinal (GI) Celiac screening for Celiac disease: Gluten free Poor nutritional status may contribute to motor delays
track anomalies (10) antibodies in 1st or diet and activity intolerance.
Up to 10% (30) 2nd y (26) with buccal
swab; follow up with Surgery to correct/restore
Celiac disease 5%-7% intestinal biopsy as anatomy
(3, 10, 30) needed (26, 30)

Duodenal Poor feeding and

stenosis/atresia 1%-5% growth, vomiting,
(30) signs and symptoms
of aspiration
Imperforate anus 1%-
4% (30) Celiac disease:
bloating, abdominal
Hirschsprung disease pain, diarrhea (26)
1%-3% (30)

Tracheoeshophage al
fistula (TEF) or
esophageal atresia
0.4%-0.8% (30)

Thyroid dysfunction At birth, at 6 mo, and Medication (thyroxine) is Fatigue and poor endurance, muscle and joint aching;
(3) then annually for life standard of care (87) increased sensitivity to cold; depression (3)
15% (27)
Decreased motivation, weight gain, dry skin,
28-54x higher than in constipation (22)
general population
The most frequent problem with this medication is either
Frequency increases underdosing (so that symptoms are not fully resolved) or
with age (3, 26) and up excess drug levels (that may produce signs of
to 54% overall (26) hyperthyroidism). (88) Hyperthyroidism may be
Hypothyroidism characterized by nervousness, weight loss, tachycardia,
0.8%-1.8% newborns insomnia, increased appetite, heat intolerance, and
goiter. (88)
Compensated
hypothyroidism (normal
thyroid hormone with
elevated thyroid-
stimulating hormone
[TSH] 25%- 40%

Diabetes mellitus Fasting blood glucose Diet, exercise, medication as Obesity is a key risk factor; acanthosis nigricans (dark,
1%; increased risk for needed creased areas on skin of neck, axillae, elbows,
type 2 diabetes due to knuckles, groin and knees) is a sign of insulin
tendency for obesity resistance; increased thirst
and large abdominal fat
stores (35)

Leukemia Blood tests; AML Chemotherapy; possible stem Anemia

onset before 5 y of cell transplant (86)
Acute myeloid age Poor endurance
leukemia (AML)
Fatigue
Acute lymphoblastic
leukemia (ALL)

Transient
myeloproliferative
disorder (TMD) 10%
(30)

Osteopenia/ Duel-energy x-ray Treatment of endocrine Increased risk of fracture (3)

osteoporosis absorptiometry (DXA) disorders; adequate calcium
scans—posterior and vitamin D intake; physical Exercise alone for adults may not be enough to
Increased risk because anterior lumbar spine activity (87) overcome longstanding low BMD; emphasize weight-
of delayed maturation, bearing activities in childhood during skeletal growth
delayed motor skills, No consensus on (22)
hypotonia, and when and how to
prevalence of GI screen (87)
anomalies leading to
malabsorption (87)

Thyroid dysfunction;
increased incidence of
epilepsy and
anticonvulsant
medication use (34)

Respiratory disorders Bronchoscopy, chest Condition specific Use good infection control techniques
Recurrent wheeze in radiographs,computed
up to 36% (30) tomography (CT) May mimic asthma
scans for subpleural
Tracheolaryngomalacia cysts More and longer hospitalizations

Pulmonary hypoplasia

Subpleural cysts
Skin disorders Skin appearance; Condition specific Discomfort with orthoses and handling; follow universal
87% (10) especially in precautions
adolescents (30)
Eczema

Palmoplanar
hyperkeratosis

Xerosis

Seborrhoeic dermatitis

Folliculitis

Cutis marmorata

Seizures Tonic-clonic Anticonvulsant medication Discuss with caregiver, know appropriate first aid and
6%-8% (3, 10, 30) emergency response; anticonvulsant medication may
Partial or complex affect motor function
seizures

Obstructive sleep Sleep study by age 4 Supplemental oxygen or Irritability, fatigue, behavioral changes (22)
apnea y continuous positive air
57% of 3 y o have pressure (CPAP) at night
abnormal sleep study
(3)

Behavioral/ mental Refer for behavioral Medication, counseling, Simplify instructions, repetition, work with family to
health issues concerns behavior management plans identify strategies
18%-38% of those
25.6% of adults
diagnosed; 100% of
adults >35 show
neuropathological
features (5)

Attention deficit
hyperactivity disorder
(ADHD) 6.1% (10)

Autism 7%-10% (10)

Conduct/oppositional
disorder 5.4% (10)

Aggressive behavior
6.5% (10)

Adults:
Depression 6.1% (10)

Aggressive behavior
6.1% (10)

Alzheimer disease—
earlier onset (10)

Discuss communication needs/methods with caregiver,

obtain eye contact and speak slowly
 Hearing Newborn hearing Aggressive treatment of otitis
Up to 78% (10) screen, with follow up media with effusion, ear tubes,
as needed; brainstem tonsillectomy, and
Conductive auditory evoked adenoidectomy, hearing aids,
Sensorineural response or cochlear implants, sign
Mixed otoacoustic emission language, and augmentative
communication devices
Annual examinations

Vision Ophthalmological Corrective lens Discuss needs/methods with caregiver, provide pictures
Up to 80% (30) examination at birth, and large print
at 6 mo, and then Surgery if indicated
Refractive errors annually
35%-76% (3)

Strabismus 27%- 57%

(3)

Nystagmus up to 29%
(30)

Congenital cataract
4%-7% (30)

Several resources provide additional information about medical issues:

Congenital heart defects (85, 89, 90)

Gastrointestinal conditions (26)
Leukemia (86, 91)
Musculoskeletal conditions including cervical spine instability (26, 28, 31, 34, 87, 92, 93) Psychiatric issues (95, 96)
Seizure disorders (97)
Thyroid dysfunction (26,87,98,99)
Medications used with people who have DS (3, 30, 88, 94)

Cases
There are no cases available at this time.

Author Disclosures
Kathy S. Martin, PT, DHS, is director and associate professor of the professional doctor of physical therapy program at the Krannert School of
Physical Therapy, University of Indianapolis, Indianapolis, Indiana. Martin has more than 20 years of clinical experience that includes pediatric
inpatient acute care, early intervention, and hippotherapy (therapy on horseback). She has served on the Board of Directors of the Section on
Pediatrics of the American Physical Therapy Association (APTA). In 2008, she was awarded the Frances C. Ekstam Award by the Indiana
Chapter of APTA.

Martin received compensation from Therapeutic Services, Inc., for her role as a presenter at a continuing education workshop that included some
of the information in this summary.

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