Down syndrome

Overview

People with Down syndrome have higher rates of heart defects, thyroid problems, and hearing loss, so regular checks matter.

Early therapy and school supports help children learn and grow.

Symptoms

Common signs:

• Down syndrome diagnosis

Less common

• Low muscle tone

When to get medical care

Causes

Extra chromosome.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It's linked to changes in genes and can be passed from parent to child.
• A genetic counselor can explain the chance of passing it on and testing for relatives.

Who is more likely to get it

• Older parents

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Chromosome test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Early intervention
• Regular checkups
• Keep heart and thyroid checkups

Prevention

To lower your risk or prevent problems:

• Prenatal screening

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• A medical geneticist or genetic counselor can explain genetic tests and family risk.

Living with it

• Keep a simple diary of symptoms, triggers, and medicines to bring to visits.
• Bring a list of your medicines and questions to each visit.
• Stay active in ways that feel good to you.
• Get enough sleep and manage stress.
• Children may qualify for free early intervention services before age 3, and special education help (an IEP) at school.
• Long-term illness can affect mood. Tell your doctor if you feel down or anxious.

Support groups and helplines

• National Down Syndrome Society: Resources for families at every age.
• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Back to school, work, or sports

• Most people can keep working or going to school.
• Ask about changes that help, like extra breaks or a flexible schedule. Workers may be covered by the ADA. Students may get a 504 plan.

Children, pregnancy, and older adults

• Children: Early therapy helps.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Genetic counseling before or early in pregnancy can explain the chance of passing it on and testing options.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

For caregivers

• Go to visits when you can and take notes.
• Keep a list of medicines, allergies, and doctors in one place.
• Learn the warning signs that need fast care.
• Take breaks and ask for help. Caregivers need care too.

Outlook

Many adults live into their 60s and beyond.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Which checkups does my child need?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Down syndrome