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DOWN’S SYNDROME

DOWN’S SYNDROME (also called Trisomy 21) is a genetic disorder that occurs in approximately 1 of 800 live births. It is the leading cause of cognitive impairment. Down syndrome is associated with mild to moderate learning disabilities, developmental delays, characteristic facial features, and low muscle tone in early infancy. Many individuals with Down syndrome also have heart defects, leukemia, early-onset Alzheimer's disease, gastro-intestinal problems, and other health issues.

 

What are the chromosome basics of Down syndrome?

 

Genes on an extra copy of chromosome 21 are responsible for all characteristics associated with Down syndrome.About 95% of individuals with Down syndrome inherit an entire extra chromosome 21.

Approximately 3% to 4% of individuals with Down syndrome do not inherit an entire extra chromosome 21, but just some extra chromosome 21 genes, which are attached to another chromosome (usually chromosome 14). This is called a translocation.

 

About 2% to 4% of people with Down syndrome inherit additional genes from chromosome 21, but not in every cell of the body. This is known as mosaic Down syndrome.

 

What are the risk factors for conceiving a child with Down syndrome?

 

The only well known risk factor for conceiving a child with Down syndrome is advanced maternal age.

Parents who have conceived a child with Down syndrome have a 1% increased risk of conceiving another child with Down syndrome. If a parent is a carrier of a chromosome 21 translocation, the risk can be as high as 100%.

 

What are the characteristic features and symptoms of Down syndrome?

 

• A flattened face and nose, a short neck, a small mouth sometimes with a large, protruding tongue, small ears, upward slanting eyes that may    have small skin folds at the inner corner (epicanthal fold);

• White spots (also known as Brushfield spots) may be present on the colored part of the eye (iris);

• The hands are short and broad with short fingers, and with a single crease in the palm;

• Poor muscle tone and loose ligaments are also common; and

• Development and growth is usually delayed and often average height and developmental milestones are not reached.

What type of prenatal screening is available for Down syndrome?


Prenatal screening tests currently available include the expanded alpha-fetoprotein (AFP) screening test, the nuchal translucency test, and additionalultrasound screens which look for changes in certain anatomical features of the fetus. While these screening tests can assess the risk for Down syndrome, they cannot confirm Down syndrome with certainty.

 

How is the diagnosis of Down syndrome made?

 

If Down syndrome is suspected after a child is born, a diagnosis can be made via chromosome analysis.

Amniocentesis is performed between 16 and 20 weeks of pregnancy.

Chorionic villus sampling (CVS) is done between 11 and 12 weeks of pregnancy.

 

Cognitive impairment in Down syndrome

 

The most common condition associated with Down syndrome is cognitive impairment. Cognitive development is often delayed, and all individuals with Down syndrome have mild to severe learning difficulties that last throughout their lives.

 

What other conditions are associated with Down syndrome?

 

Heart conditions

Congenital heart defects.

Gastrointestinal conditions

Esophageal atresia, tracheoesophageal fistula, duodenal atresia or stenosis, Hirschsprung disease, and imperforate anus.'

 

Other medical conditions include:

• hearing loss,

• frequent ear infections (otitis media),

• underactive thyroid (hypothyroidism),

• cervical spine instability,

• visual impairment,

• sleep apnea,

• obesity,

• constipation,

• infantile spasms,

• seizures,

• dementia,

How is Down syndrome managed?

Corrective surgery for heart defects, gastrointestinal irregularities, and other health issues is necessary for some individuals. Regular health checkups should be scheduled to screen for other conditions such as visual impairments, ear infections, hearing loss, hypothyroidism, obesity, and other medical conditions. Individuals with Down syndrome should be fully included in family and community life.

 

What about early intervention and education for Down syndrome?

 

It is very important to stimulate, encourage, and educate children with Down syndrome from infancy. Programs for young children with special needs are offered in many communities. Early intervention programs, including physical therapy, occupational therapy, and speech therapy can be very helpful.

 

What are the needs of infants and preschool children with Down syndrome?

 

Like all children, children with Down syndrome greatly benefit from being able to learn and explore in a safe and supportive environment. Being included in family, community, and preschool life will help a child with Down syndrome develop to his or her full potential. While social development and social learning are often quite good, development in other areas such as motor skills, speech, and language are usually delayed. Many children with Down syndrome eventually reach most developmental milestones, but mild to severe learning difficulties will persist throughout life.