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Medical Information About Down Syndrome

  • Most babies and individuals with Down syndrome have hypotonia. Hypotonia, or low muscle tone, can increase the time required to achieve many developmental milestones.
  • For this reason, and others, early intervention is recommended. Early intervention in the areas of physical therapy, speech/feeding, and occupational therapy should all start in the first six months of life. Access to more information regarding early intervention can be found at the Early Intervention Colorado website.
  • About half of all children with Down syndrome are born with congenital anomalies (also known as birth defects), such as congenital heart defects, gastrointestinal anomalies, and genitourinary abnormalities.
  • Some heart defects will require surgery for repair in the newborn period. A pediatric cardiologist can explain the details of the procedure to you.
  • Some gastrointestinal problems will require immediate surgery. For example, some children have a blocked small intestine that needs immediate repair.
  • Some children with Down syndrome develop gastrointestinal problems after the newborn period. Constipation is common and it should be discussed with a physician. The doctor can provide advice about how to safely treat the constipation.
  • The doctor can also evaluate your baby for a condition called Hirschsprung disease that occurs when the nerves necessary to move stool through the bowel are not present in the colon. Hirschsprung disease requires medical attention. 
  • Some babies will have trouble with reflux - a condition in which the stomach contents come up into the esophagus and throat, and can cause irritation or heartburn. Frequently, treatment is available, so be sure to address any concerns about reflux with your child’s doctor.
  • Babies and children with Down syndrome are more likely to get ear and respiratory infections than children without Down syndrome.
  • Thyroid problems are more common in children with Down syndrome than in the typical population. These issues usually can be treated effectively by your child’s doctor and a hormone specialist called an endocrinologist.
  • Celiac disease is in the news a lot these days. Celiac disease is caused by an allergy to wheat gluten, and it is more common in children with Down syndrome. It can cause a variety of symptoms, including constipation, diarrhea, stomach aches and more. Testing for Celiac disease is available. If a child has Celiac disease, then a special diet can be used to treat the condition and alleviate symptoms.
  • Children with Down syndrome are also more likely to develop eye problems, such as myopia, or nearsightedness. Because these health complications benefit from early detection and treatment, it is important for babies and children with Down syndrome to receive regular eye exams.
  • Children with Down syndrome are also at risk for hearing loss. Your baby should be screened before he or she is discharged from the hospital nursery. Since hearing is so important to communication and the development of speech, your child’s hearing should be tested by a specialist, such as an audiologist, or an ear, nose and throat (ENT) doctor.  Your pediatrician can help you find these specialists.
  • Children with Down syndrome are more likely to have a variety of urinary tract anomalies. This may require the involvement of a pediatric nephrologist or urologist.
  • Additional information regarding regular screening tests can be obtained by reviewing the recently published AAP guidelines titled “Health Supervision for Children with Down Syndrome”.
  • It is important to have a team of healthcare providers that can help monitor your child for any condition that will require intervention.

To learn more about Down syndrome, please visit:

To learn more about Down syndrome, please read:

  • Bull MJ, and the Committee on Genetics. Clinical Report—Health Supervision for Children
    With Down Syndrome.  Pediatrics. 128: 393-406, 2011.
  • Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM. Congenital Defects
    Among Liveborn Infants with Down Syndrome. Birth Defects Research A: Clinical and
    Molecular Teratology. 79:  657-663, 2007.
  • Jennifer Graf Groneberg, Road Map to Holland: How I Found My Way Through My Son’s First
    TwoYears with Down Syndrome, Penguin Books Ltd., 2008.
  • Kupferman JC, Druschel CM, and Kupchik GS. Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Down Syndrome. Pediatrics. 124: e615-621, 2009.
  • Susan J Skallerup. Babies with Down Syndrome: A New Parent’s Guide, Woodbine House, 2008.
  • Kathryn Lyndard Soper, What Parents Wish They’d Known: Reflections on Parenting a Child
    With Down Syndrome, 2008.
  • Pat Winders, Gross Motor Skills in Children with Down Syndrome: A Guide for Parents and
    Professionals, 1997.