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Down Syndrome - MoveForwardPT.com

Move Forward Guide

Physical Therapist's Guide to Down Syndrome

Down syndrome affects about 1 in 700 babies, or approximately
6,000 babies born in the United States each year. About 400,000
people in America and over 6 million worldwide have Down syndrome.
Most children with Down syndrome have delayed mental and physical
development. Many children with Down syndrome have an intellectual
disability, and approximately 45% of newborn babies with Down
syndrome have congenital heart defects.

Jump to:
What is Down Syndrome?
Signs and Symptoms
How Is It Diagnosed?

What is Down Syndrome?

Down syndrome (DS) is a genetic disorder in which babies are born
with an extra copy of chromosome 21. (The disorder also is called
Trisomy 21.) Chromosomes determine how a baby grows in the
mother's womb before birth and how the baby's body functions after
birth, and normally, a baby is born with 46 chromosomes. The extra
copy of chromosome 21 in babies born with DS changes the typical
development of the brain and the body, causing mental and physical
challenges.

How Can a Physical

Therapist Help?
Can this Injury or
Condition be Prevented?
Real Life Experiences
What Kind of Physical
Therapist Do I Need?
Further Reading

The average lifespan of a person with DS today, in America and in other developed countries, is
approximately 60 years. Although DS continues throughout a person's lifespan, children and adults can
improve their ability to perform movement activities and everyday tasks with the help of physical
therapists and other health care professionals. Physical therapists can help prevent some of the
complications of DS such as developmental delay, obesity, and lower levels of heart or cardiovascular
fitness.
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Signs and Symptoms

The symptoms of DS include physical differences and intellectual difficulties that continue into adulthood
and can range from mild to severe.
DS may be detected during pregnancy by screening or diagnostic tests. If not detected before birth,
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Down syndrome usually is detectable at birth by the baby's physical characteristics. These physical
characteristics include:
Low muscle tone
A single deep crease across the palm of the hand
A slightly flattened facial profile, and an upward slant to the eyes
A chromosomal analysis will be done to confirm the diagnosis.
Almost 50% of babies born with DS will have some type of congenital heart disease, which may be noted
at the time of birth or soon after. Natural development is often delayed because the baby has low muscle
tone, decreased strength, increased movement at the joints, poor balance, posture difficulties, feeding
problems, and poor hand use. Children with DS also often require increased time to learn complex
movements, such as riding a tricycle.
Additional symptoms as the baby develops include:
Poor language development and language use
Vision and hearing problems
Intellectual disability
Possible misalignment of bones at the base of the head and compression of the spinal cord
In later childhood and adulthood, people with DS may develop other symptoms, such as:
Low motivation
Difficulty learning complex movement tasks
Obesity
Poor cardiovascular health
Thyroid dysfunction/diabetes
Skin disorders
Sleep apnea
Depression
Early onset of dementia
Physical therapists will work with the family and other health care providers to reduce or prevent these
symptoms. Good medical care, strong educational environments that include therapy from preschool
through high school and into adulthood, and support from families can help keep adults with DS as
healthy as possible. Many adolescents and adults with DS participate in family and community activities
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and lead happy, productive lives.

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How Is It Diagnosed?
Three types of DS have been identified, and all types are diagnosed by a chromosomal analysis,
frequently a blood test, ordered by a physician.
Type 1. The most common type of DS is called "Nondisjunction Trisomy 21." This type of DS occurs
when 3 copies of chromosome 21 are present in the fertilized egg. Typically, one copy of chromosome
21 comes from the father and one copy from the mother. When 3 copies are present, the extra
chromosome may come from either the mother or the father. As the baby develops, the extra
chromosome is copied into every cell in the body.
Type 2. Translocation Trisomy 21 is seen in about 4% of all people with DS. In this type of DS, part of
chromosome 21 breaks off during cell division of the fertilized egg and attaches to another chromosome.
The total number of chromosomes in the cells is the usual 46, but the extra part of chromosome 21
causes the baby to have the characteristics of DS.
Type 3. Mosaic Trisomy 21 occurs in about 1% of persons with DS. This type of DS occurs when a
"nondisjunction" of chromosome 21 takes place in 1 of the cell divisions of the fertilized egg, but not all
cell divisions are affected. Some of the baby's cells contain 46 chromosomes, which is typical, but other
cells contain the extra chromosome 21 for a total of 47. People with Mosiac DS may have fewer
characteristics of the syndrome.
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How Can a Physical Therapist Help?

The child's physical therapist will perform an evaluation that includes:
Birth and developmental history. The physical therapist will ask questions about the child's
birth and developmental stages (the age he or she held the head upright, rolled over, sat up,
crawled, walked, etc).
General health questions. The physical therapist may ask some of the following questions: Has
your child been sick or hospitalized? When did your child last visit a physician or health care
provider? Were any health concerns shared with you during that visit?
Parental concerns. The physical therapist will ask about your chief concerns. What are you
worried about? What do you hope to accomplish first in therapy?
Physical examination. The physical exam may include measuring the child's height and weight;
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observing movement patterns; making a hands-on assessment of muscle strength, tone, and
flexibility; and testing the child's balance and coordination.
Motor development tests. The physical therapist will perform specific tests to determine the
child's motor development, such as sitting, crawling, pulling up to standing, and walking. The
physical therapist also may screen the child's hand use, vision, language skills, intellect, and other
areas of development.
Referrals. The physical therapist may refer you to other health care professionals who can
participate in a team effort to address the child's needs.
The physical therapist is an important partner in health care and fitness for anyone diagnosed with DS.
Therapists help people with DS to gain strength and movement to function at their best throughout all
the stages of life.
Therapy may be provided in the home or at another location such as a community center, school, or a
physical therapy outpatient clinic. The physical therapist will work with other health care professionals,
such as speech/language pathologists or occupational therapists, to address all the individual's needs
as treatment priorities shift.
Specifically, physical therapists work with children with DS to improve muscle strength, balance,
coordination, and movement skills to improve daily activities and quality of life. The purpose of early
intervention is to prevent a child with DS from developing atypical movement patterns.
Improving strength. The physical therapist will teach you and the child exercises to increase
muscle strength. The therapist will identify games and fun tasks that improve strength. As the child
grows, the therapist will identify new games and activities to reduce the risk of obesity and
increase heart health.
Improving developmental skills. Your physical therapist will help your child learn to master
motor skills such as crawling, pulling to standing, and walking. Research has shown that infants
with DS can benefit from such activities as walking on a treadmill. Physical therapists can help
caregivers support their child's movement development by providing hands-on training for
positioning, movement, feeding, and play. Your therapist also may suggest changes at home to
encourage movement development, communication, hearing, vision, and play skills.
Improving balance and coordination. The physical therapist may use equipment such as a
firm, round pillow or an exercise ball to improve the child's ability to hold the head erect or to
maintain a sitting position. Bilateral coordination skills, such as jumping, skipping, and dribbling a
ball may be incorporated into therapy.
Improve physical fitness. The physical therapist will help determine the specific exercises, diet,
and community involvement that can promote healthy living choices and prevent complications of
DS such as activity limitations and decreased participation with siblings or peers.
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Can this Injury or Condition be Prevented?

The exact cause of the chromosomal changes that result in DS is not known, but the disorder is
associated with increasing age in mothers. Women older than 35 years at the time of childbirth have an
increased incidence of having a baby with DS. However, due to the fact that younger women have a
much greater childbirth rate, the overall majority of babies with DS are born to women younger than 35
years of age.
Excellent prenatal care is important for all pregnant women. Once a child is diagnosed with DS, the
physical therapist and other health care professionals can prevent or reduce some of the additional
complications that might occur following birth, such as developmental delay; poor strength, posture, and
balance; unstable joints; abnormal movement or walking patterns; obesity; or heart and cardiovascular
problems.
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Real Life Experiences

Jill is a 5-month-old girl with DS and an uncomplicated birth history. Jill's parents were aware of the
diagnosis before her birth, and they have always sought optimal care for her. She is scheduled for
surgical repair of a congenital heart defect in the near future.
Jill has had difficulty drinking from a bottle, and her physical therapist has worked with other health
professionals to assist the parents with the feeding program best suited for her. She is seen at home by
several health care professionals. The pediatric physical therapist has helped the family learn how to get
Jill to hold her head upright when she is supported when sitting, and how to get Jill to roll over from her
stomach to her back and from her back to her stomach. The physical therapist includes games, such as
pat-a-cake, and toys with bright colors to stimulate Jills interest, play, and hand skills. The therapist
incorporates words and pictures with the treatment sessions to help Jills language development.
The family has already asked for information about starting an infant treadmill walking program as soon
as Jill has recovered from her surgery and can put weight on her feet to stand. The therapist is using a
large ball to encourage Jill to take some weight on her feet now. Jill is placed on her stomach on the ball,
facing away from the therapist, and the ball is moved toward the therapist so that Jills feet will take some
weight against the therapists body as the therapist holds her safely on the ball.
As Jill continues to develop during her early years of life, the physical therapist will encourage
progression of motor activities such as crawling, walking, climbing stairs, and running. An orthotics
(braces for the foot and ankle) assessment will be completed once Jill begins to initiate weight-bearing
activities at 7-9 months. Infants with DS are at high risk for delayed standing due to low muscle tone and
joint instability, which may result in foot deformity and lifelong mobility impairments. An orthotics
assessment is beneficial, in the first year of life, to prevent misalignment.
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What Kind of Physical Therapist Do I Need?

All physical therapists are prepared through education and experience to treat a variety of conditions or
injuries. You may want to consider:
A physical therapist who is experienced in pediatrics and developmental disorders. Some physical
therapists have a pediatric practice and will work with you and your child in the clinic, home,
school, or community environment.
A physical therapist who is a board-certified clinical specialist or who has completed a residency
or fellowship in pediatric physical therapy. This therapist has advanced knowledge, experience,
and skills that may apply to developmental conditions such as DS.
Experienced pediatric physical therapists who also understand the importance of working with the
other health professionals who are needed to maximize outcomes for people with DS.
You can find physical therapists who have these and other credentials by using Find a PT, the online
tool built by the American Physical Therapy Association to help you search for physical therapists with
specific clinical expertise in your geographic area.
General tips when you're looking for a physical therapist (or any other health care provider):
Get recommendations from family and friends or from other health care providers.
When you contact a physical therapy clinic or home health agency for an appointment, ask about
the physical therapists' experience in helping children with DS or other developmental disorders.
During your first visit with the physical therapist, be prepared to describe your child's symptoms
and motor skills in as much detail as possible.
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Further Reading
The American Physical Therapy Association (APTA) believes that consumers should have access to
information that could help them make health care decisions and also prepare them for their visit with
their health care provider.
APTA has determined that the following articles provide some of the best scientific evidence on Down
syndrome. The articles report recent research and give an overview of the standards of practice for
treatment both in the United States and internationally. The article titles are linked either to a PubMed*
abstract of the article or to free access of the full article, so that you can read it or print out a copy to
bring with you to your health care provider.
US National Library of Medicine, MedlinePlus. Down syndrome. Available here. Updated February 16,
2013.
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US Department of Health and Human Services, National Institute of Child Health and Development. Down
syndrome overview. Availablehere. Updated November 30, 2012.
Smith BA, Stergiou N, Ulrich BD. Patterns of gait variability across the lifespan in persons with and
without Down syndrome. J Neurol Phys Ther. 2011;35:170177. Free Article.
Centers for Disease Control and Prevention. Facts about Down syndrome. Available here. Updated June
8, 2011.
Lana-Elola E, Watson-Scales SD, Fisher EM, Tybulewicz VL. Down syndrome: searching for the genetic
culprits. Dis Model Mech. 2011;4:586595. Free Article.
Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics.
2011;128. Free Article.
Jones J, Hathaway D, Gilhooley M, et al. Down syndrome health screening: the Fife model. British J of
Learning Disabilities. 2010;38:59. Article Summary not Available.
Smith DS. Health care management of adults with Down syndrome. American Family Physician.
2001;64:10311038. Free Article.
National Down Syndrome Society. Early intervention and physical therapy resources. Available here.
Global Down Syndrome Foundation. Available here.
*PubMed is a free online resource developed by the National Center for Biotechnology Information
(NCBI). PubMed contains millions of citations to biomedical literature, including citations in the National
Library of Medicine's MEDLINE database.
Authored by Venita Lovelace-Chandler, PT, PhD, PCS. Reviewed by theMoveForwardPT.com editorial
board.
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Created: March 19, 2013

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