Physical Therapy Guide to Down Syndrome
Down syndrome (DS) affects approximately 6,000 (1 in 700) babies born in the United States (US) each year. Most children with Down syndrome experience physical and developmental delays, and may have physical conditions requiring treatment. Individuals with Down syndrome experience cognitive (intellectual) delays, but the effect is usually mild to moderate and is not indicative of the many strengths that each individual possesses. Approximately 400,000 people living in the US and more than 6 million people worldwide have Down syndrome. Physical therapists work with individuals with Down syndrome from infancy through adulthood to help them function at their maximum potential and lead healthy, productive lives.
What is Down Syndrome?
Down syndrome, also called Trisomy 21, is a genetic disorder causing babies to be born with an extra copy of chromosome 21. Chromosomes determine how a baby grows in the mother's womb before birth and how the baby's body functions after birth; normally, a baby is born with 46 chromosomes. The extra copy of chromosome 21 in babies born with Down syndrome changes the typical development of the brain and the body, causing intellectual and physical challenges.
The current average life span of a person with Down syndrome living in the US and in other developed countries is approximately 60 years. Although DS continues throughout a person's life span, 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 working side-by-side with individuals with Down syndrome and their families can help prevent some of the complications of DS, such as developmental delay and obesity, and help boost and maintain their levels of heart and cardiovascular fitness.
How Does It Feel?
The symptoms of DS, including physical differences and intellectual difficulties, can range from mild to severe. They are often apparent at birth and continue into adulthood.
Signs and Symptoms
Down syndrome may be detected during pregnancy by screening or diagnostic tests. If not detected before birth, 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 of a newborn baby can be performed to confirm a diagnosis of DS.
Approximately 40% to 60% of babies born with DS will have some type of congenital heart disease, which may be noted at the time of birth or soon following birth. Motor development (movement) is often delayed because the baby may have low muscle tone, decreased strength, increased movement at the joints, postural and balance difficulties, feeding problems, or challenges with hand use. Children with Down syndrome also may experience some vision and hearing challenges, and develop and use language at a slower rate. They also often require increased time to learn complex movements, such as riding a tricycle.
Other challenges may include:
- Poor language development and use
- Vision and hearing problems
- Cognitive (ie, thinking, decision making) difficulties
In later childhood and adulthood, people with DS may develop other challenges, such as:
- Difficulty learning complex movement tasks
- Degenerative joint disease
- Poor cardiovascular health (ie, hypertension)
- Thyroid dysfunction
- Skin disorders
- Lower bone density
- Digestive problems
- Sleep apnea
- Depression (approximately 30% of cases)
- Early onset of dementia
Physical therapists will work with the individual, the family, and other health care providers to reduce the effect of these conditions, or even prevent them from developing.
Good medical care, strong educational environments that include physical therapy from preschool through high school and into adulthood, and support from families can help keep adults with DS living at their maximum potential. Many adolescents and adults with DS participate in family and community activities and lead happy, productive lives.
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, 1 copy of chromosome 21 comes from the father and 1 copy comes 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 Down syndrome. 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 Down syndrome.
Type 3. Mosaic Trisomy 21 occurs in approximately 1% of persons with Down syndrome. This type of DS develops when a "nondisjunction" or error occurs 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.
How Can a Physical Therapist Help?
The physical therapist is an important partner in health care and fitness for anyone diagnosed with DS. Physical therapists help people with DS gain strength and movement skills in order to function at their best throughout all the stages of life.
Specifically, physical therapists work with children with DS to improve muscle strength, balance, coordination, and movement skills to improve independence with daily activities and quality of life. Early intervention by a physical therapist helps a child with DS develop to their maximum potential.
Your child's physical therapist will perform an evaluation that includes:
- Birth and developmental history. Your physical therapist will ask questions about your child's birth and developmental stages (the age he or she performed activities such as holding the head upright, rolling over, sitting up, crawling, walking, and running).
- General health questions. Your 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? Has your child had any surgeries?
- Parental concerns. Your physical therapist will ask about your chief concerns. What are your goals? What do you hope to accomplish first in physical therapy?
- Physical examination. The physical exam may include measuring your child's height and weight, observing movement patterns, and making a hands-on assessment of his or her muscle strength and tone, movement, flexibility, posture, balance, and coordination. Your child’s heart health and fitness may also be assessed, as well as his or her foot posture and potential need for orthotics.
- Motor skill acquisition. Your physical therapist will perform specific tests to determine your child's motor development such as sitting, crawling, kneeling, pulling up from sitting to standing, walking, and more advanced skills like running, jumping, or kicking and throwing a ball. Your therapist also may screen the child's hand use, vision, learning strategies, and other areas of development.
- Referrals. Your physical therapist may refer you to other health care professionals who can participate in a team effort to address your child's needs. The therapist may coordinate regularly with other consultants, such as a developmental pediatrician, a cardiologist, or a speech and language therapist, to schedule regular checkups.
The physical therapist will design an individualized treatment program that may include:
- Improving strength. Your physical therapist may teach you and your child exercises to increase muscle strength. The therapist will identify games and fun tasks that improve strength, and adjust them as the child grows, identifying new fitness activities to reduce the risk of obesity and increase and maintain heart health.
- Improving developmental skills. Your physical therapist will help your child learn to master motor skills such as crawling, pulling up from sitting to standing, and walking. Research has shown that infants with DS can benefit from activities like 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 physical therapist also may suggest changes at home to encourage movement development, communication, hearing, vision, and play skills.
- Improving balance, coordination, and postural control. Your physical therapist may use equipment such as a firm, round pillow or an exercise ball to improve your child's ability to hold the head erect or to maintain a sitting position. Other skills such as jumping, skipping, and dribbling a ball may be incorporated into a fun physical therapy regimen.
- Improving physical fitness. Your physical therapist will help determine the specific exercises, diet, and community involvement that can promote healthy living choices for your child, and prevent complications of DS, such as activity limitations and decreased participation with siblings or peers.
Physical therapy may be provided in the home or at another location like a community center, school, or a physical therapy outpatient clinic. Physical therapists work with other health care professionals to address the needs of individuals with DS, as treatment priorities shift throughout their lifespans.
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 Down syndrome. Mothers at age 20 have an incidence of having a baby with DS at 1 in 2,000 births; at age 40, incidence increases to 1 in every 100 births. 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 additional complications that might occur following birth.
Real Life Experiences
Jill is a 5-month-old girl with Down syndrome with an uncomplicated birth history. Jill's parents were aware of her diagnosis before birth, and knew that she would be born with DS. They adore Jill, and have sought the best possible care for her before and after her birth. 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 care professionals to teach her parents a feeding program best suited for her. She is seen at home by several professionals. Her physical therapist has helped the family learn how to get Jill to hold her head upright while supported when sitting, and how to get her to roll over from her stomach to her back and from her back to her stomach. Her physical therapist includes games, such as pat-a-cake, and toys with bright colors to stimulate Jill’s interest, play, and hand skills. He incorporates words and pictures with the treatment sessions to help Jill’s language development.
Jill’s 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. Her physical 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 physical therapist, and the ball is moved toward him so that Jill’s feet will take some weight against his body as he holds her safely on the ball. That exercise always makes her laugh.
As Jill continues to develop during her early years, her physical therapist will encourage more activities such as crawling, walking, climbing stairs, and running. Once Jill begins to put more weight on her feet and ankles, she will be assessed for any orthotics (braces for the foot and ankle) that can help improve her movement and strength. Infants with DS are at high risk for delayed standing due to low muscle tone and joint instability.
By working with Jill and monitoring her movements and development, her physical therapist, and the health care professionals on her team, will make sure she functions at top form, engages in safe and fun activities with her family and in the community, and realizes her full potential as an individual.
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, and 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 physical 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 other health care professionals as needed to maximize outcomes for people with DS.
- A physical therapist who specializes in neurological conditions, musculoskeletal impairments, or pain management for an adult with DS, depending on that individual’s needs. Your physician or physical therapist can direct you to the appropriate specialist.
- Early-intervention physical therapy from birth to 3. Each State in the US is responsible for providing early intervention programs for infants and toddlers. Services for children are provided at the local level, under state supervision. Find out the agency for your state at the ECTA Center, or contact your pediatrician or family physician.
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 Down syndrome 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.
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. Accessed June 28, 2017.
US Department of Health and Human Services, National Institute of Child Health and Development. Down syndrome overview. Available here. Updated November 30, 2012. Accessed June 28, 2017.
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;35:170–177. Free Article.
Centers for Disease Control and Prevention. Facts about Down syndrome. Available here. Updated June 8, 2011. Accessed June 28, 2017.
Lana-Elola E, Watson-Scales SD, Fisher EM, Tybulewicz VL. Down syndrome: searching for the genetic culprits. Dis Model Mech. 2011;4:586–595. Free Article.
Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. [erratum in: Pediatrics. 2011;128:1212]. Pediatrics. 2011;128:393–406. Free Article.
Jones J, Hathaway D, Gilhooley M, et al. Down syndrome health screening: the Fife model. British J of Learning Disabilities. 2010;38:5–9. Article Summary not Available.
Smith DS. Health care management of adults with Down syndrome. American Family Physician. 2001;64:1031–1038. Free Article.
National Down Syndrome Society. Early intervention and physical therapy resources. Available here. Accessed June 28, 2017.
Global Down Syndrome Foundation. Available here. Accessed June 28, 2017.
*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, board-certified clinical specialist in pediatric physical therapy. Reviewed by the editorial board.