Down Syndrome Day
Down Syndrome Day, celebrated annually on March 21st, is a worldwide initiative to increase awareness and advocate for the inclusion of individuals with Down Syndrome. This genetic condition results from an extra copy of chromosome 21 and influences various aspects of health and development.
What is Down Syndrome?
According to the World Health Organization (WHO), Down Syndrome is a genetic disorder that results in developmental and intellectual delays. It is associated with a higher incidence of congenital heart defects, which can significantly impact the overall health and quality of life of affected individuals.
The term “syndrome” refers to a set of symptoms that tend to happen together. With a syndrome, there is a pattern of differences or problems. The condition is named after an English physician, John Langdon Down, who first described it.
There are three types of Down Syndrome:
Trisomy 21 (Nondisjunction): This is the most common type, accounting for about 95% of cases. It occurs when there is an error in cell division, resulting in three copies of chromosome 21 instead of two.
Translocation: This type accounts for about 3% of cases. It occurs when a part of chromosome 21 becomes attached (translocated) to another chromosome before or at conception.
Mosaicism: This rare form accounts for about 2% of cases. It occurs when some cells have three copies of chromosome 21, while others have the typical two copies.
Most cases of Down syndrome are not inherited but result from random abnormal cell division during the formation of the sperm or egg or early fetal development. However, a rare form called translocation Down syndrome can be passed from parent to child. In these cases, a parent may have a balanced translocation, where genetic material from chromosome 21 is rearranged but not duplicated, meaning they show no signs of Down syndrome. However, they can pass an unbalanced translocation to their child, leading to the condition.
Common Characteristics of Down Syndrome
Individuals with Down syndrome are unique, with intellectual and developmental challenges that typically range from mild to moderate. Health conditions vary; some individuals are healthy, while others may have congenital heart defects.
Individuals with Down syndrome often have distinct physical features, though not everyone has the same traits. Common characteristics include a flattened face with a small nose and flat nasal bridge, a small head, short neck, and a tongue that may protrude. They may have upward-slanting eyelids, a skin fold covering the inner corner of the eye, small, rounded ears, and tiny white spots on the iris called Brushfield’s spots. Other features include wide, small hands with a single crease in the palm, short fingers, small feet with a gap between the first and second toes, short height, poor muscle tone in infancy, and overly flexible joints.
People with Down syndrome have a higher risk of developing certain medical conditions, including congenital heart defects, respiratory and hearing problems, Alzheimer’s disease, childhood leukemia, and thyroid disorders.
Heart Health in Individuals with Down Syndrome
Research published in PubMed highlights that nearly 50% of individuals with Down Syndrome are born with congenital heart defects. These defects can range from mild to severe and may require medical intervention, including surgery. Common heart conditions include atrioventricular septal defect (AVSD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA).
In the UAE, the prevalence of Down Syndrome is estimated to be around 800 live births. The Emirates Down Syndrome Association reports that a significant number of these individuals also have congenital heart defects, necessitating specialized medical care and support.
The UAE has made significant strides in supporting individuals with Down Syndrome. The Emirates Down Syndrome Association (EDSA) plays a crucial role in providing resources, education, and advocacy for individuals with Down Syndrome and their families. Under the patronage of HH Sheikh Hamdan Bin Mohammed Bin Rashid Al-Maktoum, the UAE hosted the World Down Syndrome Congress in 2021, bringing together experts, families, and advocates from around the world. This event highlighted the UAE’s commitment to empowering individuals with Down Syndrome and promoting their inclusion in society.
Symptoms and Diagnosis of Down Syndrome
Individuals with Down syndrome who have congenital heart defects may experience symptoms such as rapid breathing, cyanosis (a bluish tint to the skin), poor feeding and weight gain, and fatigue. Diagnosis is typically made through echocardiograms, chest X-rays, and other imaging tests to identify the specific heart defect and determine the best treatment approach.
Treatment and Management of Down Syndrome
Managing congenital heart defects in individuals with Down syndrome may involve medications, surgical interventions, and continuous medical care. Early diagnosis and timely treatment are essential for improving outcomes and enhancing quality of life.
Sonia Al Hashimi, the Chairperson of the UAE Down Syndrome Association, has been a beacon of hope and inspiration. Her journey began with a pledge to give her son a sense of independence, which grew into the celebrated UAE Down Syndrome Association. Through her work and determination, she has empowered individuals and families, shattered stigmas and promoted inclusion. Sonia’s story is a testament to the power of love and dedication in transforming lives.
Life Expectancy and Quality of Life
Life expectancy for individuals with Down Syndrome has increased significantly over the past few decades, from 25 years in 1983 to around 60 years today1. With advancements in medical care and support, many people with Down Syndrome lead healthy, fulfilling lives. They attend school, work, participate in decisions that affect them, have meaningful relationships, vote, and contribute to society in many wonderful ways.
Celebrate the uniqueness of each individual!
Down Syndrome Day is an opportunity to celebrate the unique contributions of individuals with Down Syndrome and raise awareness about their health needs.
By understanding the connection between Down Syndrome and heart health, we can provide better care and support. Remember, with the right care and support, individuals with Down Syndrome can lead healthy and fulfilling lives.
Find more information on
Emirates Down Syndrome Association
A contribution of Dr. Habab Basheir Elgamer,
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