Down Syndrome - IP Bio PDF

**INDEX** +-----------------------+-----------------------+-----------------------+ | **S.** | **TOPIC** | **PG** | | | | | | **NO.** | | **NO.**...

**INDEX** +-----------------------+-----------------------+-----------------------+ | **S.** | **TOPIC** | **PG** | | | | | | **NO.** | | **NO.** | +=======================+=======================+=======================+ | 1 | Introduction | 2 | +-----------------------+-----------------------+-----------------------+ | 2 | Types | 4 | +-----------------------+-----------------------+-----------------------+ | 3 | Causes | 7 | +-----------------------+-----------------------+-----------------------+ | 4 | Symptoms | 9 | +-----------------------+-----------------------+-----------------------+ | 5 | Diagnosis | 13 | +-----------------------+-----------------------+-----------------------+ | 6 | Diagnostic tests | 15 | +-----------------------+-----------------------+-----------------------+ | 7 | Treatments | 18 | +-----------------------+-----------------------+-----------------------+ | 8 | Down syndrome | 19 | | | organization | | +-----------------------+-----------------------+-----------------------+ | 9 | Bibliography | 22 | +-----------------------+-----------------------+-----------------------+ **INTRODUCTION** In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm.\ ***Commonness is Down syndrome*** According to the Centers for Disease Control and Prevention, approximately one in every 772 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,100 babies with Down syndrome are born in the United States each year.  ***Down syndrome discovery*** **John Langdon Down**, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly work, published in 1866, that earned Down the recognition as the "father" of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity. In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome. In 1959, the French physician **Jérôme Lejeune** identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This accomplishment opened the door to great advances in Down syndrome research. **Different types of Down syndrome** A. Trisomy 21 (Nondisjunction)- Down syndrome is usually caused by an error in cell division called "**nondisjunction**." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.\ B. Mosaicism- **Mosaicism (or mosaic Down syndrome)** is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism is the least common form of Down syndrome and accounts for only about 2% of all cases of Down syndrome. Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess. C. **Translocation** In translocation, which accounts for about 3% of cases of Down syndrome, the total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome.  **Causes** Regardless of the type of Down syndrome, a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. The cause of the extra full or partial chromosome is still unknown. Age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism. However, due to higher birth rates in younger women, 51% of children with Down syndrome are born to women under 35 years of age. There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents' activities before or during pregnancy. The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either parent. Approximately 5% of the cases have been traced to the father. ***Likelihood of having a child with Down syndrome*** Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. The age of the mother, or birthing parent, does not seem to be linked to the risk of translocation. Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.\  **Symptoms** Down syndrome causes physical, cognitive and behavioral symptoms. Not all people with Down syndrome have all of these symptoms. Symptoms and their severity are different from person to person. I. **Physical signs of Down syndrome-** Physical signs of Down syndrome are usually present at birth and become more apparent as your baby grows. They can include: - *A flat nose bridge.* - *Slanted eyes that point upward.* - *A short neck.* - *Small ears, hands and feet.* - *Weak muscle tone at birth.* - *Small pinky finger that points inward towards the thumb.* - *One crease in the palm of their hand (palmar crease).* - *Shorter-than-average height.* As your child grows, additional symptoms can arise because of the way that their body developed in the uterus, including: - *Ear infections or hearing loss.* - *Vision problems or eye diseases.* - *Dental problems.* - *Being more prone to infections or illnesses.* - *Obstructive sleep apnea.* - *Congenital heart disease.* II. **Cognitive symptoms of Down syndrome-** Down syndrome may have cognitive development challenges as a result of their extra chromosome. This can cause intellectual or developmental disabilities. The child's ability to meet developmental milestones, or things that The child can do at a certain age, may differ from other children, including how they: - *Walk and move (gross and fine motor skills).* - *Speak (language development skills).* - *Learn (cognitive skills).* - *Play (social and emotional skills).* As a result, it may take your child longer to do the following things: - *Toilet training.* - *Speaking their first words.* - *Taking their first steps.* - *Eating food independently.* III. **Behavioral symptoms of Down syndrome-** Child diagnosed with Down syndrome may exhibit behavioral symptoms. This can be the result of the child not being able to communicate their needs to us or their caregivers effectively. Behavioral symptoms of Down syndrome could include: - *Stubbornness and tantrums.* - *Difficulty paying attention.* - *Obsessive or compulsive behaviors.* **Diagnosis** After a baby is born, a doctor may suspect Down syndrome in a newborn based on the baby's appearance. But some babies without DS may have similar physical features to a baby with Down syndrome. A diagnosis can be confirmed by a blood test called a karyotype test that lines up the chromosomes and will show if there's an extra chromosome 21. The **American College of Obstetricians and Gynecologists** recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age. - Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome. But these tests can\'t tell for sure or diagnose whether the baby has Down syndrome. - Diagnostic tests can identify or diagnose whether your baby has Down syndrome. **Screening tests during pregnancy** Screening tests can only identify your risk of carrying a baby with Down syndrome, they can help you make decisions about more-specific diagnostic tests. 1. The first trimester combined test The first trimester combined test, which is done in two steps, includes: - **Blood test.** This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby. - **Nuchal translucency test.** During this test, an ultrasound is used to measure a specific area on the back of your baby\'s neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this neck tissue. 2. **Integrated screening test-** **The integrated screening test is done in two parts during the first and second trimesters of pregnancy. The results are combined to estimate the risk that your baby has Down syndrome.** - **First trimester. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.** - **Second trimester. The quad screen measures your blood level of four pregnancy-associated substances: alpha fetoprotein, estriol, HCG and inhibin A.** **Diagnostic tests during pregnancy & newborns** A. **Pregnancy:** **If your screening test results are positive or worrisome, or you\'re at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. Your health care provider can help you weigh the pros and cons of these tests.** **Diagnostic tests that can identify Down syndrome include:** - **Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low.** - **Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother\'s uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.** B. **Newborns-** **After birth, the initial diagnosis of Down syndrome is often based on the baby\'s appearance. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a chromosomal karyotype to confirm diagnosis. Using a sample of blood, this test analyzes your child\'s chromosomes. If there\'s an extra chromosome 21 in all or some cells, the diagnosis is Down syndrome.** Each person with Down syndrome has different talents and the ability to thrive. **Treatment** **Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on individual needs. Also, different stages of life may require different services.** **Team care:** **If the child has Down syndrome, there's a team of specialists that can provide medical care and help him or her develop skills as fully as possible. Depending on the child\'s particular needs, the team may include some of these experts:** - **Primary care pediatrician to coordinate and provide routine childhood care** - **Pediatric cardiologist** - **Pediatric gastroenterologist** - **Pediatric endocrinologist** - **Developmental pediatrician** - **Pediatric neurologist** - **Pediatric ear, nose and throat (ENT) specialist** - **Pediatric eye doctor (ophthalmologist)** - **Audiologist** - **Speech pathologist** - **Physical therapist** - **Occupational therapist** **Down syndrome organizations around the world** **Some organizations:** - **Global Down Syndrome Foundation** **Works to improve the lives of people with Down syndrome through research, education, medical care, and advocacy** - **International Down Syndrome Coalition (IDSC)** **Advocates for and helps people with Down syndrome throughout their lives, and provides support, education, and connections to families and local resources** - **International Mosaic Down Syndrome Association (IMDSA)** **Works to increase awareness of mosaic Down syndrome in the public, medical, and educational communities, and encourages research** - **Down Syndrome International** **A global network of people with Down syndrome and their families who advocate for their human rights and work towards a more inclusive society** - **European Down Syndrome Association (EDSA)** **Brings together European organizations to share information and collaborate to improve the lives of people with Down syndrome and their families.** **Some other Down syndrome organizations include:** - **Down Syndrome Federation of India** - **Lebanese Down Syndrome Association** - **Libyan Down Syndrome Association** - **Familias Extraordinarias (Mexico)** - **Deanna Sipaco (DS) Foundation for the Differently-Abled Inc. (Philippines)** - **Stowarzyszenie Rodzin i Opiekunów Osób z Zespołem Downa Bardziej KOCHANI (Poland)** - **La Asociacion Venezolana para el Sindrome de Down (AVESID) (Venezuela) **  International Mosaic Down Syndrome Association  Home - Down Syndrome Federation of India  **Bibliography** - [**https://ndss.org/about**](https://ndss.org/about) - [**https://my.clevelandclinic.org/health/diseases/17818-down-syndrome**](https://my.clevelandclinic.org/health/diseases/17818-down-syndrome) - [**https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983**](https://www.mayoclinic.org/diseases-conditions/down-syndrome/diagnosis-treatment/drc-20355983)