Health Conditions Associated With Down Syndrome

When I first found out that Gigi was going to be born with Down syndrome, I immediately focused on and worried about the health conditions associated with it. I am a worrier when it comes to health, so this is where I dwelled.

Here are the health conditions that are most commonly associated with Down syndrome:

  • Alzheimer’s Disease. Scientists have located genes on chromosome 21 that affect the aging process and possibly contribute to Alzheimer’s which is why individuals with Down syndrome are prone to it.
  • Atlantoaxial Instability. Affects 10-30% of individuals with Down syndrome. This is instability in the cervical area of the spine and therefore injury can cause neurological issues so any children wanting to play contact sports are urged to get x-rays first.
  • Blood diseases and leukemia. About 1% of children with Down syndrome will have leukemia, however there is something about their genetic makeup that causes children with Down syndrome to respond better to treatment than typical children.
  • Autism. Roughly 5% of children with Down syndrome will have a dual diagnosis of Down syndrome and autism.
  • Ear, Nose and Throat Issues.
  • Obstructive Sleep Apnea. Every child with Down syndrome is urged to undergo a sleep study.
  • Thyroid Issues. 4-18% according to the official journal of the American Academy of Pediatrics.
  • Infantile Spasms, which are seizures, during the first year of life. If not addressed immediately these can result in developmental delays. 1-13% according to the official journal of the American Academy of Pediatrics.
  • Gastrointestinal Issues.
    • Approximately 3% of infants with Down syndrome are born with an imperforate anus, meaning that there is no open anus from which stool can be passed.
    • Between 2-15% of infants with Down syndrome are born with Hirschsprung disease, which results when the last part of their large intestine does not function properly due to a lack of certain nerve cells.
    • 5% of babies with Down syndrome will have a duodenal obstruction, which means that the first part of the small intestine—the duodenum—becomes blocked. Surgery for these issues is required.
  • Celiac Disease. Up to 16% of individuals with Down syndrome are believed to have Celiac disease.
  • Heart Abnormalities. Roughly 50% of babies with Down syndrome are born with congenital heart defects. Gigi was born with two holes, one has closed, the other is likely to not close on its own. It is an ASD or Atrial Septal Defect. An ASD is a defect in the septum between the heart’s two upper chambers (atria). It will be surgically corrected in a few years.
  • Mental Health Issues. At least half of all individuals with Down syndrome will experience mental health issues. These can include general anxiety, repetitive and obsessive-compulsive behaviors; oppositional, impulsive, and inattentive behaviors; sleep related difficulties; depression; autism spectrum conditions; and neuropsychological problems characterized by progressive loss of cognitive skills.
  • Vision Issues such as cataracts and refractive errors.

Data above taken from the National Down Syndrome Society.

Things are good with Gigi so far. Last time we checked, her thyroid, hearing and eyesight were good. We’ve had her blood checked a few times lately due to some petechiae, but that was OK as well. I don’t bother thinking about the heart issue right now; there’s nothing I can do about it so I’ll cross that bridge when we get to it. I also don’t dwell on things far down the road like Alzheimer’s. Some parents do, but I don’t see the point right now.

They say the first year can be really busy for some with surgeries and health issues, and for others the first year is not much different than your typical baby. Gigi does have friends that are on medication for infantile spasms or that are tube fed. We’ve been very lucky with Gigi so far.


October is Down syndrome awareness month. This month I am participating in a blog challenge for Down syndrome awareness. Click the link below to see a list of more blogs posting for Down syndrome awareness during the month of October…

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