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What are the Signs and Treatment Options of a Child with Down Syndrome?

Down Syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, and often leads to mental retardation. It affects 1 in every 800 babies born.

Symptoms of Down Syndrome

The symptoms of Down Syndrome vary widely from child to child. While some kids with DS need a lot of medical attention, others lead very healthy and independent lives.

Diagnosing Down Syndrome

A newborn baby with Down Syndrome often has physical features the attending physician can recognize in the delivery room. These may include a flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep transverse crease on the palm of the hand. However, a child with Down Syndrome may not possess all of these features; some of these features can even be found in the general population.

To confirm the diagnosis, the doctor will request a blood test called a chromosomal karyotype. This involves growing the cells from the baby’s blood for about two weeks, followed by a microscopic visualization of the chromosomes to determine if extra material from chromosome 21 is present.

The doctor making the initial diagnosis of Down Syndrome has no way of knowing the intellectual or physical capabilities this child, or any other child, may have.

Children and adults with Down Syndrome have a wide range of abilities. A person with Down Syndrome may be very healthy, or he or she may present unusual and demanding medical and social problems at virtually every stage of life. However, every person with Down Syndrome is a unique individual, and not all people with Down Syndrome will develop all the medical disorders discussed in this article.

Medical Disorders Associated with
Down Syndrome

During the first days and months of life, some disorders may be immediately diagnosed. Congenital hypothyroidism, characterized by a reduced basal metabolism, an enlargement of the thyroid gland, and disturbances in the autonomic nervous system, occur slightly more frequently in babies with Down Syndrome.

A routine blood test for hypothyroidism that is performed on newborns will detect this condition if present. Several other well-known medical conditions, including hearing loss, congenital heart disease, and vision disorders, are more prevalent among those with Down Syndrome.

Recent studies indicate that 66 to 89% of children with Down Syndrome have a hearing loss of greater than 15 to 20 decibels in at least one ear, due to the fact that the external ear and the bones of the middle and inner ear may develop differently in children with Down Syndrome. However, many hearing problems can be corrected. But, because of the high prevalence of hearing loss in children with Down Syndrome, an objective measure of hearing should be taken to establish hearing status.

In addition to hearing disorders, visual problems also may be present early in life. Cataracts occur in approximately 3% of children with Down Syndrome, but can be surgically removed.

Approximately half of the children with Down Syndrome have congenital heart disease and associated early onset of pulmonary hypertension, or high blood pressure in the lungs. Echocardiography may be indicated to identify any congenital heart disease. If the defects have been identified before the onset of pulmonary hypertension, surgery has provided favorable results.

Seizure disorders, though less prevalent than some of the other associated medical conditions, still affect between 5 and 13% of individuals with Down Syndrome, a 10-fold greater incidence than in the general population. There is an unusually high incidence of infantile spasms or seizures in children less than one year of age, some of which are precipitated by neonatal complications and infections and cardiovascular disease. However, these seizures can be treated with anti-epileptic drugs.

The incidence and severity of these associated medical ailments will vary in babies with Down Syndrome and some may require surgery.

Treatment of Down Syndrome

Early intervention is the best way to treat a child with Down Syndrome. The term early intervention refers to an array of specialized programs and related resources that are made available by health care professionals to the child with Down Syndrome. These health care professionals may include special educators, speech therapists, occupational therapists, and social workers. It is recommended that stimulation and encouragement be provided to children with Down Syndrome.

The evaluation of early intervention programs for children with Down Syndrome is difficult, due to the wide variety of experimental designs used in interventions, the limited existing measures available that chart the progress of disabled infants, and the tremendous variability in the developmental progress among children with Down Syndrome, a consequence in part of the many complicating medical factors.

While many studies have been conducted to assess the effects of early intervention, the information is limited and contradictory regarding the long-term success of early intervention for children with Down Syndrome.

However, federal laws (Public Law 94-142) are in place to ensure each state has as a goal that all handicapped children have available to them a free public education and related services designed to meet their unique needs.

The decision of what type of school a child with Down Syndrome should attend is an important one, made by the parents in consultation with health and education professionals. A parent must decide between enrolling the child in a school where most of the children do not have disabilities (inclusion), or sending the child to a school for children with special needs. Inclusion has become more common over the past decade.

Since the cognitive development of each child with Down Syndrome varies greatly, early childhood intervention ideally should start soon after birth. Its possible that your child’s treatment team will include occupational, speech, and physical therapists.

Occupational Therapy (OT) for Down Syndrome

While your child is a baby, OT will help him or her with any oral-motor feeding problems by suggesting positioning and feeding techniques. As your child grows, occupational therapists can help your child develop his or her fine motor skills, which involve the small muscles needed to pick up objects. Down Syndrome can cause low muscle tone, decreased strength and joint ligament laxity. OT can also help your child with typical self help skills such as feeding, dressing and washing.

Speech Therapy (ST) for Down Syndrome

Often children with Down Syndrome will have a varying range in language and communication skills. Your doctor will most probably screen for middle ear problems and hearing loss. Correcting these conditions with low gain hearing aids or other amplification devices will be necessary for language learning. Early communication intervention with speech therapy can help the child with his expressive language. Individualized speech therapy can target specific speech errors, increase speech intelligibility, and in some cases encourage advanced language and literacy.

Its important to start speech therapy before your child speaks his first word. This will alleviate the frustration that comes from not being able to communicate their needs and desires. If needed, your child’s speech therapist would also suggest oral motor exercises and activities to strengthen the muscles and improve the coordination of those muscles.

Physical Therapy (PT) for Down Syndrome

The degree to which a child’s gross motor skills are affected varies, and a physical therapist can work with your child to help him or her reach his or her best potential. There are four factors that impact your child’s gross motor skills: decreased muscle tone (called hypotonia), increased flexibility in joints, decreased muscle strength and his or her short arms and legs. Without PT, your child could end up having orthopedic problems later in life from using their muscles incorrectly. Some examples include:

  • Standing and walking with hips in external rotation, knees stiff, feet flat and turned out
  • Sitting with the trunk rounded and pelvis tilted back
  • Standing with the stomach out and back arched

PT at an early age strengthens the muscles, enabling your child to keep his or her body in proper alignment and prevent future health problems.

Language and Reading Development for Infants and Toddlers
Using the Technique by Love and Learning

Love and Learning is an innovative technique for teaching language and reading skills to infants and toddlers.

Developed by Joe and Susan Kotlinski for their own special needs daughter, the technique combines the use of special DVDs, audio CDs, books and computer programs with an easily achievable amount of parental involvement.

What makes the Love And Learning method truly unique is the way in which letters/words are clearly presented to help special needs children focus their attention and hear the individual sounds within a word.

The audio CD is played at nap time, bedtime or play time and lets a child hear the words spoken in a clear, slow manner. These words are visually and phonetically repeated in the video, again in a direct, focused presentation. Special books clearly present the same letters/words and, when used for just a few minutes each day, will reinforce the audio CD and DVD as well as provide a special time for parent and child to read together.

Included on each DVD is a presentation to parents with suggestions on how to use this technique to best meet the individual needs of their child. Love and Learning offers a technique which is success-oriented, enhances a child’s self-esteem and is based on sound learning principles. For more information visit www.loveandlearning.com.


Add-A-Bands are an assistive device designed to facilitate the development of normal movement patterns in children with low muscle tone and/or lax hip ligaments. The latter may contribute to excessive flexibility, making it difficult to develop an adequate base of support from which to attain a good position to move. Consequently, a child may have difficulty moving with ease and efficiency, and undesirable habits may develop such as moving from sitting to lying through the middle of wide split legs.

When properly adjusted, Add-A-Bands facilitate the optimal base of support at the knees and/or feet of a child when the spacing of his or her legs is excessively wide. Combinations of movements at the hip joints are then permitted without restriction other than limiting excessive widening.

Add-A-Bands can also be used as a positioning assist to limit excessive widening of the legs with children experiencing muscle weakness or paralysis from nerve damage.

Orthotic Intervention SureStep

If your child has low muscle tone, it is likely that his feet are pronating. It is important to address this pronation, preferably when the child begins to pull-to-stand.

The SureStep orthosis was designed specifically for children with low muscle tone and works differently than bracing methods of the past. Its patented concept of compression combined with unique trimlines make it possible for kids to squat, jump and run while maintaining alignment and stability.

Where Can I Get More Information?

Administration on Developmental Disabilities
Administration for Children and Families
U.S. Department of Health and Human Services
Mail Stop: HHH 300F
370 LEnfant Promenade S.W.
Washington, DC 20447
(202) 690-6590
American Speech-Language-Hearing Association (ASHA)
10801 Rockville Pike
Rockville, MD 20852-3279
Tel: 800-638-8255
Fax: 301-571-0457
E-mail actioncenter@asha.org
Website: www.asha.org

Learning Disabilities Association of America (LDA)
4156 Library Road
Pittsburgh, PA 15234-1349.
Telephone: 412.341.1515.
E-mail info@ldaamerica.org
Website: www.ldaamerica.org

March of Dimes Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203
E-mail askus@marchofdimes.com
Website: www.marchofdimes.com
National Down Syndrome Congress
1370 Center Drive, Suite 102
Atlanta, GA 30338
(770) 604-9500
Website: www.ndsccenter.org
National Down Syndrome Society
666 Broadway
New York, NY 10012
(212) 460-9330
Website: www.ndss.org
National Information Center for Children and Youth with Disabilities
P.O. Box 1492
Washington, DC 20013-1492
(202) 884-8200
Website: www.nichcy.org
Mid-Atlantic Regional Human Genetics Network (MARHGN)
(genetic counseling)
Curtis Coughlin II, MS, MARHGN Coordinator
MARGHN c/o Christiana Health Care Services
Genetics Room 1988
4755 Ogletown-Stanton Road
P.O. Box 6001
Newark, DE 19718
(302) 733-6732
Website: www.pitt.edu/~marhgn
National Society of Genetic Counselors
233 Canterbury Drive
Wallingford, PA 19086-6617
(610) 872-7608
Website: www.nsgc.org
The Arc of the United States
1010 Wayne Avenue
Suite 650
Silver Spring, MD 20910
Tel: 301-565-3842
Fax: 301-565-3843 or -5342
E-mail Info@thearc.org
Website: www.thearc.org


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