Down Syndrome Explained: Rocking an Extra Chromosome

Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. Instead of the typical 46 chromosomes, people with Down syndrome have 47 chromosomes. Having an extra chromosome changes brain and body development resulting in physical and cognitive differences. 

There are three different types of Down syndrome: 

1. Trisomy 21 is the most common and accounts for 95% of the cases. It is caused by an extra copy of chromosome 21. 
2. Mosaic is when there is a mixture of cells with the normal 46 chromosomes and those with 47 that have an extra chromosome 21. 
3. Translocation is when there are the normal 46 chromosomes but then an extra copy of chromosome 21 attaches to another chromosome; usually chromosome 14.

 

Common characteristics: 

While characteristics vary from person to person, these are some of the most common:

Physical Features	Cognitive/Social Features	Developmental Delays
A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck, fingers, and toes Small ears	Short attention span Poor judgment Impulsive behavior Slower learning Delayed language and speech development	Gross motor skills Fine motor skills Speech and language skills

Myths vs. Facts

Myths

Facts

Down syndrome is a rare disorder.  Most children with Down syndrome are born to older parents. All children with Down syndrome have a severe cognitive disability. People with Down syndrome cannot be active members of society.

It is the most commonly occurring chromosomal condition. Approximately 1 out of 772 babies in the United States are born with Down syndrome. More children with Down syndrome are born to parents younger than 35 but the likelihood of having a baby with Down syndrome increases with age.  Most people with Down syndrome have a mild to moderate cognitive or intellectual disability. People with Down syndrome participate in a wide range of activities in their communities.

 

What can I do to help? 

Talk to your child’s pediatrician about services, equipment, and community resources in your area for support as they learn new skills.  Examples that may be appropriate:

 

Healthcare	Equipment/Devices	Community Resources
Medical Specialists Pediatrics, Orthopedics, Neurology, Genetics, and others as appropriate ECI (Early Childhood Intervention, 0-3 years) Pediatric Outpatient  Physical therapy, occupational therapy, and speech therapy	AAC (Augmented/Alternative Communication) DME (Durable Medical Equipment) Orthotics Standing frame Gait trainer Walker	Daycare settings for children with special needs School-based therapy and accommodations Adaptive Sports (Challenger League, etc.) Upside Down Club of Abilene (or local chapter in your area) Annual Buddy Walk event

 

Organizations and Websites that offer Support 

• The National Down Syndrome Congress https://www.ndsccenter.org/

This website has resources and programs; education for parents as educators; supports for advocacy; an annual convention; and Down syndrome news stories and events. Each state also has various links to help at the state level. 

• The National Down Syndrome Society https://ndss.org/

This website has resources and support by age and by topic. It also has help with advocacy and policy. 

• The International Mosaic Down Syndrome Association https://www.imdsa.org/

This website offers resources, programs, research, and events specific to individuals with mosaic Down syndrome

• The National Association for Down Syndrome https://www.nads.org/

This website offers resources and support, events, and even a shop for Down syndrome awareness 

• The Down Syndrome Resource Foundation https://www.dsrf.org/

This website has programs and resources for people with down syndrome and their families. These resources/programs include apps, a magazine, workshops, and podcasts. These resources are also available in Spanish. 

• The ARC https://www.thearc.org/

This website was created to help people with intellectual disabilities with advocacy and policy and helps to connect families with local agencies that can help with these areas. 

• The Global Down Syndrome Foundation https://www.globaldownsyndrome.org/

This website offers information about research and medical care; offers programs and events; advocacy; and news about people with Down syndrome. The foundation helps to fund the  Linda Crnic Institute for Down Syndrome which is committed to research and medical care for people with Down syndrome. 

• The Upside Down Club of Abilene https://upsidedownclubabilene.com/home

This website offers resources, events, and personal stories for families in the Big Country area.

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