Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Downs Syndrome Review Articles

A genetic chromosome 21 disorder causing developmental and intellectual delays.

Down's syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21.

Down's syndrome causes a distinct facial appearance, intellectual disability and developmental delays. It may be associated with thyroid or heart disease.

Early intervention programmes with a team of therapists and special educators who can treat each child's specific situation are helpful in managing Down's syndrome.

Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes physical and mental developmental delays and disabilities.

 

Many of the disabilities are lifelong, and they can also shorten life expectancy. However, people with Down syndrome can live healthy and fulfilling lives. Recent medical advances, as well as cultural and institutional support for people with Down syndrome and their families, provides many opportunities to help overcome the challenges of this condition.

 

In all cases of reproduction, both parents pass their genes on to their children. These genes are carried in chromosomes. When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes, for 46 chromosomes total. Half of the chromosomes are from the mother, and half are from the father.

 

In children with Down syndrome, one of the chromosomes doesn’t separate properly. The baby ends up with three copies, or an extra partial copy, of chromosome 21, instead of two. This extra chromosome causes problems as the brain and physical features develop.

 

An ultrasound and quadruple marker screen (QMS) test can help identify Down syndrome and other defects in the brain and spinal cord. This test is done between 15 and 20 weeks of pregnancy.

If any of these tests aren’t normal, you’ll be considered at high risk for birth defects.

Percutaneous umbilical blood sampling (PUBS, or cordocentesis). Your doctor will take blood from the umbilical cord and examine it for chromosomal defects. It’s done after the 18th week of pregnancy. It has a higher risk of miscarriage, so it’s performed only if all other tests are uncertain.

 

School is an important part of the life of a child with Down syndrome, regardless of intellectual ability. Public and private schools support people with Down syndrome and their families with integrated classrooms and special education opportunities. Schooling allows valuable socialization and helps students with Down syndrome build important life skills.

 

If you’re raising a child with Down syndrome, you’ll need a close relationship with medical professionals who understand the condition’s unique challenges. In addition to larger concerns — like heart defects and leukemia — people with Down syndrome may need to be guarded from common infections such as colds.

 

People with Down syndrome are living longer and richer lives now more than ever. Though they can often face a unique set of challenges, they can also overcome those obstacles and thrive. Building a strong support network of experienced professionals and understanding family and friends is crucial for the success of people with Down syndrome and their families.