Down Syndrome

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Introduction
What is Down syndrome and what causes it?
What are the symptoms of Down syndrome?
How is it diagnosed?
What is the prognosis?
What is the risk for other family members or future babies?
What treatments/therapies/medications are recommended or available?
How will my child and our family be impacted?

Introduction

Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed at the bottom of the page. Diagnosis and management information can be found in the Down Syndrome module, which is written for primary care clinicians but also may be of help to parents and family members.

What is Down syndrome and what causes it?

Down syndrome is the most common chromosomal disorder. One in every 691 babies in the United States is born with Down syndrome. Down syndrome occurs when some or all of a person’s cells have an extra full or partial copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. The most common form of Down syndrome is called Trisomy 21, because it involves an extra copy of the 21st chromosome.

What are the symptoms of Down syndrome?

Routine prenatal screening tests may identify Down syndrome during gestation. If new screening guidelines are effectively implemented, 90% of cases will be identified during pregnancy. Currently 50% of infants with Down syndrome are identified during gestation and the vast majority of the rest are identified in the newborn period based upon the presence of minor physical features, major malformations (e.g., a heart defect), low muscle tone, and/or slow growth.

How is it diagnosed?

Down syndrome is diagnosed by chromosome analysis. Chromosome analysis may be done on cells from amniocentesis or chorionic villus sampling during gestation. For those children not diagnosed prenatally, a sample of the infant/child's blood can be sent for chromosome analysis to confirm the diagnosis.

What is the prognosis?

Life expectancy for people with Down syndrome has increased dramatically in recent decades - from 25 in 1983 to 60 today.

What is the risk for other family members or future babies?

Down syndrome can occur in people of all races and economic levels. Older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to one in 100 by age 40. At age 45 the incidence becomes approximately one in 30. [What is Down Syndrome (NDSS)] However, because young women are having more babies than older women, even though the risk is higher for an older woman to have a baby with Down syndrome, the majority of children with Down syndrome are born to women under the age of 35.

What treatments/therapies/medications are recommended or available?

People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives.

In addition to good health care, quality educational programs, a stimulating home environment and positive support from family, friends and the community are critical to optimizing health and functional outcomes.

How will my child and our family be impacted?

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as school, health care systems, work forces, and social and recreational activities. Individuals with Down syndrome possess varying degrees of intellectual disabilities, from very mild to severe. Most people with Down syndrome have IQs in the mild to moderate range of intellectual disability

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

National Down Syndrome Congress
The NDSC, a membership organization, offers parent resources, including a "new parent package" of information, as well as news and events, government activities, and information on self-advocacy.

General

Down Syndrome (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.

Down Syndrome (MedlinePlus)
From the National Library of Medicine and National Institutes of Health, offers many links to high-quality sources of information for patients and their families.

Down Syndrome - Health Issues
Site developed and edited/authored by a pediatrician, Len Leshin, MD, who has a son with Down syndrome. Includes a number of essays by experts about specific health topics and provides other useful links.

Down Syndrome Resources: Washington State
The Center for Children with Special Needs provides various resources for specific conditions, including Down syndrome.

Living with Down Syndrome (Down Syndrome Educational Trust) ( PDF Document 951 KB)
This 34-page document provides information about Down syndrome; family and school issues; People First and cultural issues.

International Foundation for Genetic Research (The Michael Fund)
Advocacy organization aimed at fund-raising for research, improving care and education of children with Down syndrome, and right-to-life issues.

The International Mosaic Down Syndrome Association
Aims to assist any family or individual whose life has been affected by mosaic Down syndrome.

What is Down Syndrome (NDSS)
Overview of Down syndrome from the National Down Syndrome Society (NDSS).

Sexuality and People with Disabilities ( PDF Document 257 KB)
This Medical Home newsletter provides information for primary care providers and families including Sexuality and People with Disabilities; American Academy of Pediatrics recommendations for education about sexuality; tips for parents; and resources, books, and websites for parents and providers.

Hearing and Vision Loss Associated with Down Syndrome (TSBVI)
An overview for families; Texas School for the Blind and Visually Impaired.

Hearing and Vision Loss Associated with Down Syndrome (Spanish version)
From the Texas School for the Blind and Visually Impaired; overview aimed at families. English version available at http://www.tsbvi.edu/Outreach/seehear/summer98/downsynd.htm.

Dental Care for the Patient with Down Syndrome
Topics covered are: Medical problems associated with Down syndrome that can affect dental treatment; proper home care and prevention of dental diseaset; techniques to help children with Down syndrome become cooperative dental patients; choosing the right dentist; and how to communicate effectively with the dental staff. by Dr. Elizabeth S. Pilcher, 1997, but still relevant.

Patient Education

A Parent's Guide on Puberty for Children with Disabilities ( PDF Document 7 KB)
A toolkit for parents to use as they choose, this publication was developed and written by Vanderbilt Leadership Education in Neurodevelopmental Disabilities (LEND) long-term trainees.

Children with Down Syndrome: Health Care Information for Families (AAP)
Guide to help parents and families of children with Down syndrome. Focuses on medical topics, by age, that affect physical health. PDF downloads available; American Academy of Pediatrics (AAP).

Down Syndrome (Genetic Science Learning Center)
A brief educational overview of the genetics of Down syndrome from the Genetic Science Learning Center at the University of Utah.

Toilet Training Children with Down Syndrome (National Down Syndrome Society)
The NDSS offers this guide on their website as a guide to determine toileting readiness and teaching toileting skills. Includes simple images that may be used as visual cues. This guide may be helpful in teaching toileting skills to any child with a developmental disability.

Services

Audiology

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Bone Densitometry/DEXA

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Pediatric Gastroenterology

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Pediatric Genetics

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Pediatric Immunology/Rheumatology

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Pediatric Infectious Disease

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Pediatric Neurology

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Pediatric Neurosurgery

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Pediatric Orthopedics

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Pediatric Otolaryngology

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Pediatric Pulmonology

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Pediatric Sleep Medicine

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Pediatric Urology

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Physical Therapy

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Psychiatrist, Child-18 (MD)

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Psychologist, Child-18 (PhD, PsyD)

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Public Schools

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Public Special Schools

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Speech Therapy

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Studies

Clinical Trials in Children with Down Syndrome (clinicaltrials.gov)

DS-Connect: The Down Syndrome Registry (NIH)
Developed by the Down Syndrome Consortium, led by the National Institutes of Health and involving several Down syndrome advocacy and professional organizations, to offer opportunities for patients/families and researchers to connect and to allow access to research data by families.

Authors

Author:

Lisa Samson-Fang, MD - 8/2012

Compiled and edited by:

URLEND Trainees, 2011-2012 - 3/2012

Content Last Updated:

11/2015

Funding/Support

The Medical Home Portal thanks the 2011-2012 URLEND Medical Home Portal trainees group for their contribution to this page.