DEFINITION: A congenital condition caused by the presence of an extra chromosome and characterized by moderately to severely delayed mental development and a distinctive physical appearance

ANATOMY OR SYSTEM AFFECTED: Brain, nervous system, psychic-emotional system

CAUSES: Genetic defect

SYMPTOMS: Delayed mental development, characteristic facial appearance, lack of muscle tone, increased risk for heart malformations, increased disease susceptibility

Down Syndrome Resource Foundation (DSRF): The DSRF supports people living with Down syndrome and their families with individualized and leading-edge educational programs, health services, information resources, and rich social connections so each person can flourish in their own right.

GiGi's Playhouse: GiGi's Playhouse provides free educational, therapeutic-based, and career development programs for individuals with Down syndrome, their families, and the community, through a replicable playhouse model.

Global Down Syndrome Foundation: This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.

LuMind IDSC Foundation: Aims to accelerate research to increase availability of therapeutic, diagnostic, and medical care options and empower families through education, connections, and support.

National Association for Down Syndrome: The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.

National Down Syndrome Congress: Provides information, advocacy, and support concerning all aspects of life for individuals with Down syndrome.

National Down Syndrome Society (NDSS): NDSS seeks to increase awareness and acceptance of those with Down syndrome.

Information in this guide was derived from:

• In 1862, British physician John Langdon Down published the first accurate description of a person with Down Syndrome.

• In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition.

• In the past, people with Down syndrome were most often institutionalized, and due to society's ignorance and intolerance, faced a grim prognosis: an average lifespan of about 25 years.

• When the practice of institutionalizing ended during the 1980s, the average life expectancy of people with Down syndrome increased to 60 years, and the average IQ also rose by an average of 20 points!

• Since there are developmental delays and associated higher risk of certain medical conditions that can't be precisely predicted, successful support for the physical and intellectual development of those with Down syndrome will tend to consist of a combination of medical, therapeutic and educational professionals.

• These days, a growing number of people with Down syndrome live independently, with some choosing to get married and live together.

• Today, although it is the MOST COMMON major genetic condition in the U.S. (with about 5,000 people being born with it per year), Down syndrome is the one that receives THE LEAST research funding from the NIH.

"A 2003 survey revealed the scope of mothers' dissatisfaction with their postnatal support following a diagnosis of Down syndrome (DS). Substantial proportions of mothers reported that providers conveyed diagnoses with pity, emphasized negative aspects of DS, and neglected to provide adequate materials explaining DS. This study follows up on the 2003 survey by assessing whether parents' experiences have improved.

"Compared to the 2003 findings, parents' perceptions of their postnatal care have not improved (N = 89). Parents are increasingly likely to report that their providers pitied them, omitted positive aspects of DS, and provided insufficient materials describing DS. Substantial proportions of parents reported fear (77%) and anxiety (79%), only 24% described receiving adequate explanatory materials, and parents were 45% likelier to report that physicians discussed negative aspects of DS than positive aspects. Qualitatively, substantial numbers of parents recounted insensitive conduct by providers."

Source: Artal, J. M., Randall, L., Rubeck, S., Allyse, M., Michie, M., Riggan, K. A., Meredith, S., & Skotko, B. G. (2024). Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022. American Journal of Medical Genetics. Part A, 194(8), e63619. https://doi-org.fscproxy.framingham.edu/10.1002/ajmg.a.63619