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Down Syndrome

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What is Down syndrome, and how does it happen?

  • Down syndrome is a chromosomal condition caused by three copies of chromosome 21.
  • Chromosomes are the packaging structures inside our cells that hold the instructions necessary for our body to grow and develop.
  • Typically people have two copies of every chromosome, one inherited from each parent.

How does the extra copy of chromosome 21 occur?

  • Most of the time Down syndrome occurs by chance. The extra copy of chromosome 21 is present in every cell of the person's body.
  • Sometimes Down syndrome is caused by a translocation. This happens when part of chromosome 21 is attached to another chromosome, and is passed on to the baby along with the two normal copies of chromosome 21. This type of Down syndrome can run in families but is rare.
  • Mosaic Down syndrome is another type that happens when the extra copy of chromosome 21 is only present in certain cells of the body and not in others. This is rare.

What are the signs and symptoms?

Down syndrome affects people differently and everyone has his or her own unique features. Some common features and symptoms of individuals with Down syndrome may include:

  • Developmental delay and speech delay
  • Some degree of intellectual disability
  • Heart defects
  • Hypothyroidism (low functioning thyroid)
  • Hearing loss
  • Vision impairment
  • Feeding challenges
  • Hypotonia (low muscle tone)

Medical care

Children with Down syndrome may need care from different health care specialists in addition to their primary care provider. Standard guidelines of care exist for children with Down syndrome. Your primary care provider and/or a Down syndrome specialist can help determine what testing and treatments are best for your child.

Early intervention

Help Me Grow Program — birth to 3 years old

  • This is a free, in-home service that can help with your child's developmental progress.
  • They often provide physical therapy, occupational therapy, and speech therapy based on your child's needs.
  • Additional private treatment may be beneficial for your child.

School

Starting at the age of 3, there may be early special education programs through the school district available to your child. When your child reaches school age, he or she may attend classes with their peers, supplemented with special education classes. An individual education plan (IEP) may benefit your child to ensure that his or her unique needs are met.

Resources and support

Questions?

This sheet is not specific to your child but provides general information. If you have any questions, please ask the doctors or nurses.

Last Reviewed 7/2021 © Copyright

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This page is not specific to your child, but provides general information on the topic above. If you have any questions, please call your clinic. For more reading material about this and other health topics, please call or visit Children's Minnesota Family Resource Center library, or visit www.childrensmn.org/educationmaterials.

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