e? There are three types of Down’s syndrome. These are: Nondisjunction (Trisomy 21) The error in cell division called as ‘nondisjunction’ leads to Down’s syndrome. During conception one pair of 21st chromosome fails to separate in the sperm or egg. This causes each cell to develop an extra chromosome. This type is seen over 95% cases of Down’s syndrome, called as trisomy 21. Mosaicism When nondisjunction of chromosome 21 occurs in of the cells, it is called as mosaicism. This causes presence of two types of cells in the body. Some contain 46 chromosomes, and some have 47 chromosomes. People with mosaicism show fewer traits of Down syndrome. This type is seen in about 1% of the cases. Translocation In translocation of part of chromosome 21 breaks off during cell division. This part attaches itself to chromosome 14. Although, the number of chromosomes remains as 21, the extra part in chromosome 14 causes the person to develop characteristics of Down’s syndrome. What Are the Symptoms of Down’s Syndrome? The physical symptoms of Down’s syndrome are very distinct. These include: Flat face Small and broad nose Large tongue Upward slanting eyes Abnormally shaped ears Small skin folds in the corner of eyes Poor muscle tone Short fingers Flexible body Broad hands Single deep crease in the palm Other symptoms are related to growth and development. These include: Moderate to severe mental retardation Develop milestones slowly than other children Learn to walk late Unable to take care of themselves Remain shorter than other children These children suffer from many medical problems. They develop: Leukemia Heart defects Gastrointestinal tract obstruction Hypothyroidism Eye abnormalities Respiratory troubles Diagnosis of Down’s Syndrome Antenatal screening helps in detecting the likelihood of the baby begin born with Down’s syndrome. Thus, every pregnant lady should undergo an ultrasound test in the first trimester. It helps in detecting any structural abnormalities such as absence of fetal nasal bone. This abnormality is associated with the presence of Down’s syndrome in the fetus. The ultrasound imaging also helps detect increased fetal nuchal translucency (NT). This is an indicator for Down’s syndrome. But this alone cannot be used as a sole indicator for Down’s syndrome. It can only be determined with the help of combined test. Other tests include a blood test that helps predict the risk of Down’s syndrome. These tests include α-fetoprotein, β-hCG, inhibin-A, unconjugated estriol and PAPP-A. These screening tests help prepare parents for a baby that may have chances of Down’s syndrome. It also helps in making a decision for termination of pregnancy. In most cases, parents are unaware about the baby having Down’s syndrome. It is only after birth, that one comes to know about the condition. The physical characteristics of the baby along with a blood test called a chromosomal karyotype helps in confirming Down’s syndrome. Management of Down’s Syndrome The best way to manage and improve the quality of life for a child with Down’s syndrome is early intervention. There are many specialized intervention programs today that help stimulate the sensory, motor and cognitive abilities in these children. There is a team of specialist like cardiologists, gastroenterologist, audiologist, endocrinologist, physical therapist, neurologists, occupational therapist, speech pathologist, etc. that help the child overcome problems and provide for his particular needs. These children may meet their developmental milestones longer than other children without Down’s syndrome. But never give up one these children. Each child is unique. In his/her own way they will overcome the obstacles and face the challenges head on. Family support, love and care will improve the child’s quality of life. Every parent must remember, the child despite his/her limitations has succeeded in achieving certain milestones of their life. Patience and care will only help them succeed farther and live their life as independently as possible for them. Speak to your child’s doctor, therapist or counselors for further information and support that you may need in bringing up these beautiful children with Down’s syndrome. Written by: healthplus24 team Date last updated: October 07, 2013
Posted on: Wed, 19 Mar 2014 06:21:29 +0000
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