Rocking an Extra Chromosome: Down Syndrome Explained - Rehab

Rocking an Extra Chromosome: Down Syndrome Explained

Nov 2023 DS 2

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 

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. 

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

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

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

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. 

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. 

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. 

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