Down Syndrome

What Is Down Syndrome?

Down syndrome is a chromosomal abnormality. A person with Down syndrome has three copies of chromosome 21, instead of the usual two.

What Causes Down Syndrome?

The extra copy of chromosome 21 is the direct cause of Down syndrome. Down syndrome is not caused by something the mother does (or does not do) during pregnancy. Down syndrome can occur in one of three forms:

• Meiotic nondisjunction – An error occurs in the separation of chromosome 21 during cell division in the process of forming the embryo.
• Translocation– The extra copy of chromosome 21 is attached (translocated) to another chromosome.
• Mosaicism – An error occurs during cell division (mitosis) at some point after formation of the embryo.

How Common Is Down Syndrome?

Down syndrome is a relatively common genetic disorder, occurring in about one of every 800 to 1,000 live births. The chance of having a baby with Down syndrome increases significantly with the mother's increasing age. The risk of having a second child with Down syndrome is higher, especially if one parent is a carrier of a translocated chromosome 21. Families with histories of genetic disorders are more likely to have children with genetic disorders, such as Down Syndrome.

How Is Down Syndrome Diagnosed?

Diagnosis in the newborn or older individual is confirmed by chromosome analysis of a blood sample. Prenatal diagnosis involves examination of fetal cells floating in the amniotic fluid (obtained by amniocentesis) or of cells taken from the placenta (chorionic villus sampling). Prenatal testing is usually performed when there is an increased risk of the fetus having Down Syndrome.

What Treatments Are Available for Down Syndrome?

There is no cure for Down syndrome. However, many of the specific health and medical conditions associated with Down syndrome can be corrected or improved with appropriate treatment. In the past few decades, advances in medical care have resulted in improved health and life expectancy for individuals with Down syndrome. It is also common that infants with Down syndrome are now referred to early intervention programs shortly after birth. The goal of intervention programs for children with Down syndrome is to maximize each child's developmental potential and improve long-term functional outcomes for children and their families.

National and New York State Down Syndrome Resources and Supports: *

• National Down Syndrome Society (NDSS): Call (800) 221-4602 Monday through Friday, 9 AM–5 PM ET. You can also email NDSS at info@ndss.org.
• National Association for Down Syndrome (NADS): Call (630) 325-9112.
• Down Syndrome Aim High Resource Center (DSAHRC): Call (518) 437-5700 or email dsahrc@cfdsny.org.
• Down Syndrome Consortium: Email downsyndrome@mail.nih.gov.
• NICHD Information Resource Center: Call (800) 370-2943 or email NICHDInformationResourceCenter@mail.nih.gov.
• U.S. Department of Health and Human Services-National Institutes of Health
  • Down Syndrome Resources | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
• Centers for Disease Control and Prevention Down Syndrome | Birth Defects | CDC
• Down Syndrome Family Network

*Note: Inclusion of these organizations is not intended to imply an endorsement by the NYSDOH.

New York State Early Intervention Program

The New York State Early Intervention Program (EIP) is part of the national Early Intervention Program for infants and toddlers with disabilities and their families. The EIP is administered by the New York State Department of Health through the Bureau of Early Intervention. To be eligible for services, children must be under 3 years of age and have a confirmed disability or established developmental delay, as defined by the State.

A diagnosis of Down Syndrome (ICD-10 Q90.9) is a qualifying condition in the Early Intervention Program. This means that a child with this diagnosis is eligible to participate in the Early Intervention Program.

Parents can make a direct referral for their children to the Early Intervention Program by calling the local Early Intervention Program in their county.

• For the phone number of your county's program, call the New York State "Growing Up Healthy" 24-hour Hotline at 1-800-522-5006
• In New York City, call 311

New York State Department of Health

Early Intervention Program

Early Intervention Program-Down Syndrome Resources

• Assessment and Intervention for Young Children (Age 0-3 Years).
  • Report of the Recommendations (PDF)
  • Quick Reference Guide (PDF)
    • Spanish (PDF)

New York State Department of Health Children and Youth with Special Health Care Needs (CYSCHN) Program

• https://www.health.ny.gov/community/special_needs/

The Children and Youth with Special Health Care Needs Program seeks to improve the system of care for children and youth with special health care needs from birth and up to 21 years of age and their families. The Program helps to shape public policy so families can get the best health care for their children.

Children served by the CYSHCN Program have an illness or condition for which they need extra health care and support services. These children might have a serious or long-lasting:

• Physical condition,
• Intellectual or developmental disability, and/or
• Behavioral or emotional condition.

Conditions include but are not limited to ADD or ADHD, allergies, anxiety, arthritis/joint problems, asthma, autism or autism spectrum disorder, behavioral/conduct problem, blood disorders, Cerebral Palsy, Cystic Fibrosis, depression, developmental delay, diabetes, Down syndrome, epilepsy/seizure disorder, genetic or inherited condition, head injury, hearing problem, heart problem, intellectual disability, learning difficulty, migraines, other mental health condition, muscular dystrophy, sickle cell anemia, speech or language disorder, substance use disorder, Tourette syndrome, and vision problem. The program is not limited to these conditions.