World Down Syndrome Day is 3/21/2019
In recent years, Down syndrome has become more common, and these children are living longer.
This is a lifelong condition. Services early in life will often help babies and children to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential.
What is Down Syndrome?
Down syndrome is a medical condition in which a person has an extra chromosome.
Chromosomes are small packages of genes within the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as the baby grows in the womb and after birth.
Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21.
A medical term for having an extra copy of a chromosome is trisomy.
Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
What is the occurance?
Down syndrome remains the most common chromosomal condition diagnosed in the United States.
Each year, about 6,000 babies born in the United States have Down syndrome. This means about 1 out of every 700 babies.1
Types of Down Syndrome
There are three types.
Trisomy 21:
About 95% have Trisomy 21.2 With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
Translocation Down syndrome:
This type accounts for a small percentage (about 3%).2 This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
Mosaic Down syndrome:
This type affects about 2%.2 Mosaic means mixture or combination. For children with mosaic type, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic type may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.
Other Health Problems
Some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems are listed below.3
Hearing loss
Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep
Ear infections
Eye diseases
Heart defects present at birth
Health care providers routinely monitor for these conditions.
Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy.
With support and treatment, many people with Down syndrome live happy, productive lives.
Therapies encourage strengths
There is no single, standard treatment.
Treatments are based on each individual’s physical and intellectual needs as well as his or her personal strengths and limitations.1 People can receive proper care while living at home and in the community.
Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.
Physical therapy is important, especially early in a child’s life, because physical abilities lay the foundation for other skills. The ability to turn over, crawl, and reach helps infants learn about the world around them and how to interact with it.
A physical therapist also can help a child compensate for physical challenges, such as low muscle tone, in ways that avoid long-term problems. For example, a physical therapist might help a child establish an efficient walking pattern, rather than one that might lead to foot pain.5
Speech-language therapy can help children improve their communication skills and use language more effectively.
Children with Down syndrome often learn to speak later than their peers. A speech-language therapist can help them develop the early skills necessary for communication, such as imitating sounds. The therapist also may help an infant breastfeed because breastfeeding can strengthen muscles that are used for speech.6
In many cases, children understand language and want to communicate before they can speak. A speech-language therapist can help a child use alternate means of communication, such as sign language and pictures, until he or she learns to speak.7
Learning to communicate is an ongoing process, so a person may benefit from speech and language therapy in school as well as later in life. The therapist may help with conversation skills, pronunciation skills, understanding what is read (called comprehension), and learning and remembering words.
Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person’s needs and abilities.
This type of therapy teaches self-care skills6 such as eating, getting dressed, writing, and using a computer.
An occupational therapist might offer special tools that can help improve everyday functioning, such as a pencil that is easier to grip.
At the high school level, an occupational therapist could help teenagers identify jobs, careers, or skills that match their interests and strengths.
Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors.
Children may become frustrated because of difficulty communicating, may develop compulsive behaviors, and may have Attention Deficit Hyperactivity Disorder and other mental health issues.
These types of therapists try to understand why a child is acting out, create ways and strategies for avoiding or preventing these situations from occurring, and teach better or more positive ways to respond to situations.
A psychologist, counselor, or other mental health professional can help a child deal with emotions and build coping and interpersonal skills.
The changes in hormone levels that adolescents experience during puberty can cause them to become more aggressive. Behavioral therapists can help teenagers recognize their intense emotions and teach them healthy ways to reach a feeling of calmness.
Parents may also benefit from guidance on how to help a child with Down syndrome manage day-to-day challenges and reach his or her full potential.8
Resources:
Down Syndrome Research Foundation (DSRF)
DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
Global Down Syndrome Foundation
This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
National Association for Down Syndrome
The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
National Down Syndrome Society (NDSS)
NDSS seeks to increase awareness and acceptance of those with Down syndrome.
References
1. Parker SE, Mai CT, Canfield MA, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16.
2. Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
3. Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.
4. National Human Genome Research Institute. (2010). Learning about Down syndrome. Retrieved June 11, 2012, from http://www.genome.gov/19517824
5. Winders, P. C. (n.d.). Gross motor development and Down syndrome. Retrieved June 11, 2012, from the NDSS website: http://www.ndss.org/en/Education-Development–Community-Life/Therapies–Development/Physical–Occupational-Therapy/#gross
6. NDSS. (n.d.). Elementary & secondary education. Retrieved June 11, 2012, from http://www.ndss.org/en/Education-Development–Community-Life/Elementary–Secondary-Education
7. Kumin, L. (n.d.). Speech & language skills in infants, toddlers & young children with Down syndrome. Retrieved June 11, 2012, from the NDSS website: http://www.ndss.org/resources/speech-language-therapy/
8. NDSS. (n.d.). Managing behavior. Retrieved June 14, 2012, from http://www.ndss.org/Resources/Wellness/Managing-Behavior/