Quick Guide to Down Syndrome Brought to you

Quick Guide to Down Syndrome Brought to you by: www. Down. Syndrome. Egypt. com Egypt’s Online Down Syndrome Community www. Down. Syndrome. Egypt. com

Contents • What is Down Syndrome? • Diagnosis • DS Facts • Important to Know • Success Stories • Down Syndrome Egypt Mission www. Down. Syndrome. Egypt. com

What is Down Syndrome? www. Down. Syndrome. Egypt. com

What is Down Syndrome? • • • Common genetic disorder / chromosomal abnormality Individuals with Down syndrome have 47 chromosomes instead of the usual 46 Occurs when there are 3 copies of chromosome 21 Causes delays in physical and intellectual development Occurring in 1/800 live newborns It is known that the error occurs at conception, It is not known why this occurs! Risk of Down Syndrome increases with age of mother Born to parents of all ages but greater risk for women 35 years and older However 80% of children with Down syndrome are born to women under 35 years of age! 50% of babies with down syndrome have congenital heart disease Airway and hearing problems Described by John Landon Down in 1866 • • Down syndrome is not related to race, nationality, religion or socioeconomic status Down syndrome is not related to anything the mother did during pregnancy The most important fact to know about individuals with Down syndrome is that they are more like others than they are different. www. Down. Syndrome. Egypt. com

www. Down. Syndrome. Egypt. com

Types of Down Syndrome There are 3 chromosomal patterns that result in Down syndrome: 1. Trisomy 21 (most common) 2. Translocation (3% to 4%) 3. Mosaicism (1% to 2%) • Regardless of the type of Down syndrome, a critical portion of the 21 st chromosome is present in all or some of their cells • This additional genetic material alters the course of development and causes the characteristics associated with the syndrome www. Down. Syndrome. Egypt. com

. 1 Trisomy 21 Individuals with regular Trisomy 21 have an extra chromosome 21 in every cell. They therefore have 47 chromosomes in each cell instead of the usual 46. It occurs because of an unusual cell division which has produced either an egg or a sperm with 24 chromosome instead of 23. When this egg or sperm fuses with an ordinary egg or sperm, the first cell of the developing baby has 47 chromosomes instead of 46 and all that babies cells will have 47 chromosomes www. Down. Syndrome. Egypt. com

. 2 Translocation They do not have an extra whole separate chromosome 21, but have an additional part of chromosome 21 attached to another chromosome. This usually arises when the small arms of chromosome 21 and another chromosome break and the 2 remaining long arms join together at their exposed ends. It is known by that name because the chromosomes method has transferred its location www. Down. Syndrome. Egypt. com

3. Mosaicism Have an extra chromosome 21 in only some of their cells. They therefore have a mixture of trisomic cells and ordinary cells. The mixture can very from very few to nearly 100% trisomic cells depending on the proportion of trisomic cells, and which part of the body contain these cells individuals may be less affected both in their physical features and in their ability level than those with regular trisomy or translocation www. Down. Syndrome. Egypt. com

Diagnosis www. Down. Syndrome. Egypt. com

Diagnosis 2 types: 1. For Pregnant women 2. For newly borns www. Down. Syndrome. Egypt. com

Diagnosis – Pregnant Women Two types of procedures are available to pregnant women: 1. Screening tests: estimate the risk of the baby having Down syndrome. 2. Diagnostic tests: tell whether or not the baby actually has Down syndrome. www. Down. Syndrome. Egypt. com

Diagnosis – Newly Born Usually identified at birth or shortly thereafter 1. Physical Characteristics: The initial diagnosis is based on physical characteristics that are commonly seen in babies with Down syndrome, these include: • low muscle tone • a single crease across the palm of the hand • a slightly flattened facial profile and an upward slant to the eyes 2. Karyotype: The diagnosis must be confirmed by a chromosome study (karyotype). A karyotype provides a visual display of the chromosomes grouped by their size, www. Down. Syndrome. Egypt. com number and shape.

www. Down. Syndrome. Egypt. com

Down Syndrome Facts www. Down. Syndrome. Egypt. com

Health Issues • Health complications beyond the usual childhood illnesses • Approximately 40% of the children have congenital heart defects • It is very important that an echocardiogram be performed on all newborns with Down syndrome in order to identify any serious cardiac problems that might be present • Some of the heart conditions require surgery while others only require careful monitoring • Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions. However, with appropriate medical care most children and adults with Down syndrome can lead healthy lives www. Down. Syndrome. Egypt. com

Sensory Problems Strabismus, Myopia , Hyperopia, excessive tearing, head tilt, cataracts www. Down. Syndrome. Egypt. com

Physical Disorders Respiratory infections Leukemia is 10 to 30 times more frequent Thyroid dysfunction www. Down. Syndrome. Egypt. com

Airway Concerns • • • Midface hypoplasia OSA in up to 50% Adenotonsillectomy often insufficient Subglottic narrowing, smaller trachea Atlantoaxial instability in up to 20% www. Down. Syndrome. Egypt. com

Hearing Concerns • Congenital and Acquired, overall high incidence • Conductive hearing loss – more common – small pinna, stenotic EAC, eustachian tube dysfunction, ossicular fixation • Sensorineural hearing loss – less common – ossification of basal spiral tract, temporal bone anomalies • Management: ventilation tubes, frequent exams, and hearing aids as necessary www. Down. Syndrome. Egypt. com

Prognosis Life expectancy for a one year old - 76% for child with Downs, 91% without Life expectancy for a 20 year old - 53% with, 82% without www. Down. Syndrome. Egypt. com

Intelligence This varies from severely retarded to low normal intelligence but is generally within the moderate range www. Down. Syndrome. Egypt. com

Social Development May be 2 to 3 years beyond the mental age, especially during early childhood www. Down. Syndrome. Egypt. com

Therapy Doses of vitamins and minerals Surgery Drugs and thyroid hormones www. Down. Syndrome. Egypt. com

Important to Know • It is important to remember that while children and adults with Down syndrome experience developmental delays, they also have many talents and gifts and should be given the opportunity and encouragement to develop them • Early Intervention services should be provided shortly after birth. These services should include physical, speech and developmental therapies. Most children attend their neighborhood schools, some in regular classes and others in special education classes. Some children have more significant needs and require a more specialized program www. Down. Syndrome. Egypt. com

Important to Know (cont’d( • Some high school graduates with Down syndrome participate in post-secondary education. Many adults with Down syndrome are capable of working in the community, but some require a more structured environment • Moral support, love & caring definitely enhance their case greatly • With YOUR help & little care, they can blend in to our community www. Down. Syndrome. Egypt. com

Important to Know (cont’d( "It is a blessing and a gift to be a parent, sibling, relative or even a friend to a person with Down’s syndrome" www. Down. Syndrome. Egypt. com

Success Stories www. Down. Syndrome. Egypt. com

Success Story 1 • • • Dina Galal Professional musician Pianist Age: 35 Plays piano at the Egyptian opera house www. Down. Syndrome. Egypt. com

Success Story 2 • Chris Burke - www. chrisburke. org • Actor • Is one of Americans favorite personalities • Through his work he has singlehandedly transformed America's image of the mentally and physically handicapped • Chris is also a spokesperson for the National Down Syndrome Society www. Down. Syndrome. Egypt. com

Funny Story By Professor Jerome Lejeune, Nobel Prize Winner, Discoverer of the gene for Down syndrome: "Many years ago, my father was a Jewish physician in Braunau, Austria. On a particular day, two babies had been delivered by one of his colleagues. One was a fine, healthy boy with a strong cry. His parents were extremely proud and happy. The other was a little girl, but her parents were extremely sad, for she was a mongoloid [Down syndrome] baby. I followed them both for almost fifty years. The girl grew up, living at home, and was finally destined to be the one who nursed her mother through a very long and lingering illness after a stroke. I do not remember her name. I do, however, remember the boy's name. He died in a bunker in Berlin. His name was Adolf Hitler. " www. Down. Syndrome. Egypt. com

A Prayer from a 14 yr old John Paul Gower is a 14 year old boy with Down syndrome, this prayer was originally published in the Catholic Herald Thank you God for making me like I am. I don't mind having Down's Syndrome. Thank you for my family who love and spoil me. Thank you for helping me beat most people at Nintendo, especially Dad! Thank you for all the exciting things I do like going to the cinema, theatre, concerts, Alton Towers and Mc. Donalds. In the next millennium please help all people with handicaps to be as happy as me. www. Down. Syndrome. Egypt. com

Down. Syndrome. Egypt. com Mission / Vision www. Down. Syndrome. Egypt. com

Down. Syndrome. Egypt. com Mission The mission of Down. Syndrome. Egypt. com is to build Egypt’s Downsyndrome online community to enable & ensure that all persons with Down syndrome have the opportunity to achieve their potential in all aspects of community life. – Parent-to-Parent Network – Discussion groups – Community Support Groups – Parent Support – Education for Healthcare – Public Awareness www. Down. Syndrome. Egypt. com

Share your thoughts, Meet us there … www. Down. Syndrome. Egypt. com Egypt’s Online Down Syndrome Community With your understanding & support THEY WILL ACHIEVE www. Down. Syndrome. Egypt. com

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