Down+Syndrome+Sick+Genes+activity

=Down Syndrome= by Adrian Magadia A helpful guid to be aware of your childs disabilities and abilities.

Symptoms:
Most children with Down syndrome have some of the following physical traits:
 * Short stature. A child often grows slowly and, as an adult, is shorter than average.
 * Weak muscles throughout the body. A child may seem to have less strength than other children of the same age. Weak abdominal muscles also make the stomach stick out.
 * A short, wide neck with excess fat and skin. Usually, this trait is less obvious as the child gets older.
 * Short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.
 * A single crease across the center of the palms of the hands. This is called a transverse palmar crease or simian line.
 * Small, low-set ears.
 * Irregularly shaped mouth and tongue. The child's tongue may partly stick out. The roof of the mouth (palate) may be narrow and high with a downward curve.
 * A nasal bridge that looks pushed in. The nasal bridge is the flat area between the nose and eyes.
 * Tissue buildup on the colored part of the eye (iris). These areas are known as Brushfield's spots and do not affect the child's vision.
 * Irregular and crooked teeth that often come in late and not in the normal sequence
 * Intellectual disability. Most children with Down syndrome have mild to moderate cognitive disability.
 * Heart defects. About half of the children who have Down syndrome are born with a heart defect. Most defects are diagnosed at birth or shortly after birth.
 * Diseases such as hypothyroidism, celiac disease, and eye conditions.
 * Children with Down syndrome are also prone to developing other health problems. For example, respiratory infections, hearing problems, and dental problems are common.

‍‍‍Type of Genetic Mutation: ‍‍‍
Down sydrome is also known as trisomy 21.Trisomy is used to describe the presence of three chromosomes.The genetic mutation that causes down syndrome is extra genetic material in the twenty first chromosome. Look at causes for more information ‍‍‍

Type of genetic Relationship/inheritance: ‍‍‍
The relationship between changes in gene expression and physical characteristics associated with Down syndrome is not well understood. Chromosome 21 genes interact with nonchromosome 21 genes to produce Down syndrome characteristics.

Down Syndrome is autosomal and is neither recessive or dominant. It is also not sex-linked.

‍‍‍Causes:
Down syndrome caused by meiotic nondisjunction of chromosome 21 in humans, is well known to be associated with advanced maternal age, but success in identifying and understanding other risk factors has been limited. ‍‍‍Down syndrome is caused by abnormal cell division in early fetal development. Medical experts believe it most often starts in a woman's egg before or at conception. Less often, the error occurs in sperm at conception. It is not known what causes the cells to divide abnormally.Genes grouped together make up chromosomes. Normally, a child inherits 46 chromosomes, 23 from each parent. The abnormal cell division related to Down syndrome results in extra genetic material, usually an extra chromosome. The type of Down syndrome depends on how many of a person's cells get extra gene pieces. Translocation-type Down syndrome is sometimes passed down through families.

Epidemiology:[[image:trisomy21_karyotype.jpg]]
The incidence of Down syndrome is estimated at one per 800 to one per 1000 births. In 2006, the Centers for Disease Control and Prevention estimated the rate as one per 733 live births in the United States. Approximately 95% of these are trisomy 21. Down syndrome occurs in all ethnic groups and among all economic classes. Maternal age influences the chances of having a baby with Down syndrome. At maternal age 20 to 24, the probability is one in 1562 and at age 35 to 39 the probability is one in 214, and above age 45 the probability is one in 19. Although the probability increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35, reflecting the overall fertility of that age group. Recent data also suggest that paternal age, especially beyond 42, also increases the risk of Down syndrome manifesting.

Diagnosis:
Though Down syndrome can't be prevented, it can be detected before a child is born. Down syndrome is diagnosed one of two ways, either during pregnancy or shortly after birth. The diagnosis is always based on the presence of an extra number 21 chromosome on a karyotype

Prognosis:
Though their average Down syndrome life expectancy has risen to the mid-50s, people with Down syndrome are still at risk for medical conditions that affect nearly every system in the body. Some of these medical conditions include:


 * Congenital heart disease
 * Thyroid problems
 * Leukemia and other cancers
 * Immune system problems
 * Hearing problems
 * Eye problems
 * Seizure disorders
 * Bone, muscle, nerve, or joint problems
 * Mental retardation
 * Alzheimer's disease.

Treatment:
No cure exists for Down syndrome. But physical therapy and/or speech therapy can help people with the disorder develop more normally. Screening for common medical problems associated with the disorder, followed by corrective surgery, can often improve quality of life. Moreover, enriched environments significantly increase their capacity to learn and lead a meaningful life.You can also have home treatment as a good parent because being a good parent it that disabled child's life is very important.

Interesting facts:
Down syndrome is really the only trisomy compatible with life. .In 90% of Trisomy 21 cases, the additional chromosome comes from the mother's egg rather than the father's sperm.Down syndrome is the most common genetic disorder caused by a chromosomal abnormality.Down syndrome was originally described in 1866 by John Langdon Down. Until 1959, French doctor, named Jerome Lejeune, discovered it was caused by the inheritance of an extra chromosome 21.

References:
down-syndrome.emedtv.com children.webmd.com/tc/**down**-**syndrome**-**treatment**-overview vv.cs.byu.edu/publications/papers/**downs**.pdf http://www.ncbi.nlm.nih.gov/pubmed/17910090 kidshealth.org › Parents › Medical Problems

= What about now? = Scientists are still trying to advance their therapies to help treat down syndrome. They are still learning how to best treat quickly so the child can fully experience life without any incapabilities. Learn more at Science Daily.com to find out recent news about down syndrome.