MANAGEMENT OF A CHILD WITH DOWNS SYNDROME

The presentation outlines the nursing management of children with down sydrome nad list their complications

1. DOWN SYNDROME

2. OBJECTIVES ( outline ): Definition Causes Types Risk factors Clinical features (common traits) Medical complications accompanying down syndrome Diagnosis Prevention measures Treating a child with down syndrome

3. DEFINITIONS Down syndrome is a congenital disorder stemming from chromosomal abnormality. Is a set of physical and mental traits caused by a gene problem that happens before birth. is a chromosomal disorder caused by an error in cell division that results in an extra 21st copy of chromosome . is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. According to research statistics conducted, each year in the U.S., approximately 1 in every 800 to 1,000 newborns has Down syndrome. This results in approximately 5,000 children born with Down syndrome each year.

4. CAUSES It is caused by an error in cell division during meiosis (process by which egg and sperm cells replicate themselves and divide). In all cases of reproduction, both parents pass their genes on to their children. These genes are carried in chromosomes ( spindle like strands of DNA in the cell nucleus that carries the Genes in a linear order ). When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes ( 46 chromosomes total). Half of the chromosomes are from the mother and the other half are from the father. In children with Down syndrome, one pair of chromosomes, usually the 21 st , doesn’t separate properly during Meosis (this is called “ Nondisjunction” ). The baby ends up with three copies , or an extra partial copy, of chromosome 21 , instead of two. This extra chromosome alters the way the brain and body develops.

5. 3TYPES: TRISOMY 21: Is a condition where individuals have 47 chromosomes in each cell instead of 46. This means that there is an extra copy of chromosome 21 in every cell. Is the most common form of down syndrome and happens when individuals have 3copies of the 21 st pair of chromosomes. A ccounts for 94% of Down syndrome cases according to researches conducted. MOSAICISM: It means that there is an extra 21 chromosome in some but not all of child’s cells. There is a mixture of the 2 types of cells, some containing 46 chromosomes and some containing 47. C ells with 47 chromosomes contain an extra chromosome 21. Because of the mosaic pattern of cells, the term Mosaicism is used has fewer symptoms than those with trisomy 21 Researches shows that this form of Down’s is responsible for only 1-2% of cases.

6. TRANSLOCATION In this form, part of the chromosome 21 breaks off during cell division and attaches to another chromosome. Meanwhile the total number of chromosomes in the cell remain 46. T he presence of an extra part of chromosome 21 causes mental and physical traits of down syndrome. Robertsonian translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes some characteristics of Down syndrome . In most cases, it tends to be a sporadic form of down syndrome. It accounts for only 3-4% of all the cases.

7. Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4% of children with Down syndrome have translocation. And only about one-third of these children inherited it from one of their parents. When translocations are inherited, the mother or father has some rearranged genetic material, but no extra genetic material — this means he or she is a balanced carrier . A balanced carrier has no signs or symptoms of Down syndrome, but he or she can pass the translocation on to children, causing extra genetic material from chromosome 21. The chance of passing on the translocation depends on the sex of the parent who carries the rearranged chromosome 21: If the father is the carrier, the risk is about 3%. If the mother is the carrier, the risk is between 10 and 15%. NOTE: Down syndrome is a life long condition and is not contagious.

8. RISK FACTORS Certain parents have a greater risk of giving birth to a child with Down syndrome . The risk increases with the increase in age of parents. Advancing maternal age. For example, women aged 35 and older have a greater risk because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is about 1 in 350. By age 40, the risk is about 1 in 100, and by age 45, the risk is about 1 in 30. Underage mothers e.g. below 35 because younger women have far more babies. Fathers over the age of 40. People with a family history of Down syndrome. For example, having had one child with Down syndrome. Typically, a woman who has one child with Down syndrome has about a 1 in 100 chance of having another child with Down syndrome. P eople who carry the genetic translocation for down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children .

9. COMMON TRAITS: Flat facial profile Muscle hypotonia (low muscle tone) Eyes that slant upwards, and also a notice of tiny white spots on the coloured part of the eye (iris) called Brushfield spots Short neck bulging tongue ( Irregularly shaped mouth and tongue ) Dysplastic ears (an abnormal shape of ears) Broad, short hands with a single deep crease across the Centre of the palm Hyper-flexibility (an excessive ability to extend the joint) Curvature of the fifth finger, caused by underdevelopment of the middle phalanx Epicanthic folds ( small skin folds on the inner corner of the eyes) Excessive space between the 1 st big toe and 2 nd toe. Some degree of intellectual disability ( usually below average intelligence), Some degree of mental retardation (usually mild to moderate).

10. Conti… Flat nasal bridge ( A nasal bridge that looks pushed in). The nasal bridge is the flat area between the nose and eyes . Protruding tongue. Irregular and crooked teeth. Teeth often come in late and not in the same order that other children's teeth come in . Small head and ears Short stature (height). A child often grows slowly and is shorter than average as an adult . Relatively short fingers and small hands and feet School-aged children with down syndrome often have difficulty with language, communication.

11. HEALTH PROBLEMS accompanying down syndrome(medical COMPLICATIONS): Leukemia (progressive proliferation of abnormal leukocytes found in hemopoietic tissues and usually in the blood in increased number). Congenital heart defects Hearing loss Poor vision/ cataracts---clouded eyes Increased susceptibility to infections that may affect lungs and breathing, e.g. pneumonia ; urinary tract infection, and skin problem such as psoriasis. Hip problems, such as dislocations Sleep apnea (interrupted breathing during sleep), because of soft tissue and skeletal changes that lead to the obstruction of their airways Dementia (thought and memory problems) Hypothyroidism ( low thyroid function), celiac disease. Obesity Late tooth growth, causing problem with chewing (dental problems).

12. Conti… Chronic constipation . Some have stomach problems due to gastrointestinal blockage that affect digestion and elimination. Depression or behavior problems associated with ADHD or autism . Alzheimer’s disease, in later life. Early menopause, seizures

13. Tests and DIAGNOSIS Nowadays, families at high risk of having a child with Down syndrome often times opt to receive genetic screens and diagnostic tests in modern hospitals especially for pregnant women older than 30 . Although screens and tests aren't perfect, they can help you make decisions about more-specific diagnostic tests and the course of the pregnancy . Screening tests include: ◾ Nuchal translucency testing (at 11-14 weeks) - an ultrasound that measures clear space in folds of tissue behind the neck of a developing baby. When abnormalities are present, more fluid than usual tends to collect in this neck tissue . ◾ Triple screen or quadruple screen (at 15-18 weeks) - measures the quantities of various substances in the mother's blood ◾ Integrated screen - combines first trimester screening tests (with or without nuchal translucency) and blood tests with second trimester quadruple screen. Part one includes a blood test to measure the levels of pregnancy-associated plasma protein-A (PAPP-A) and an ultrasound to measure nuchal translucency . The quad screen measures blood level of four pregnancy-associated substances: alpha fetoprotein, estriol , human chorionic gonadotropin ( HCG) and inhibin A . Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.

14. Cell-free DNA - a blood test that analyzes fetal DNA found in the maternal blood. Genetic ultrasound (at 18-20 weeks) - detailed ultrasound combined with blood test results Diagnostic tests include: ◾ Chorionic villus sampling, CVS (at 8-12 weeks) - analysis of a tiny sample of placenta obtained from a needle inserted into the cervix or the uterus and used to analyse the foetal chromosomes. ◾ Amniocentesis (at 15-20 weeks) - analysis of a small amount of amniotic fluid obtained from a needle inserted into the abdomen (the mother's uterus). This sample is then used to analyze the chromosomes of the fetus . ◾ Percutaneous umbilical blood sampling, PUBS / ( Cordocentesis ) (after 20 weeks) - fetal blood is taken from a vein in the umbilical cord and examined for chromosomal defects . Risks of using screens and diagnostic tests include : miscarriage, fetal injury, preterm labour.

15. NOTE: Down syndrome can also be diagnosed after a baby is born by inspecting the infant's physical characteristics as well as blood and tissue.

16. PREVENTION MEASURES By consulting a genetic counsellor before becoming pregnant . A genetic counsellor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing.

17. TREATING A CHILD WITH DOWN SYNDROME There is no cure for Down syndrome. However, parents/guardian in collaboration with a team of health care providers ( doctors , nurses , physiotherapist , occupational therapists , speech therapists , special education teachers , clinicians, …) can help exploit and provide early intervention programmes and opportunities that can help a child succeed. Early interventions for infants and children with Down syndrome can make a major difference in realizing their potential abilities and in their quality of life, thus depending on each child`s particular needs. Early intervention programmes may help the child develop : Sensory skills Social skills Self help skills Motor skills Language and communication Cognitive abilities

18. Physicians, and other specialists can help to identify and provide solutions on management of medical complications accompanying Down syndrome. Meanwhile parents/guardian should help establish a support network in the family and at community level. Inclusion is a strategy that can also help meet the needs of children with down syndrome in public education and developmental services in the society they live.

19. REFERENCES Patricia A. Downie , (1982) Cash`s Texbook of Neurology for Physiotherapists , 3 rd ed. Patricia A. Downie , (1990) Cash`s Texbook of General Medical and Surgical Conditions for Physiotherapists , 2 rd ed. http://www.google.com/search/down-syndrome:definition,causes , clinical features, treatment / Mayo Clinic staff,/ 4/11/2016. http:// www.webmed.com/search/down-syndrome:definition,causes , signs/symptoms, treatment// 10/11/2016 . http:// www.medline.com/search/down-syndrome:definition,causes , signs/symptoms, treatment// 14/11/2016 . http :// www.gettyimages.com/detail/photo/little-girl-outdoors-royalty-free-image https:// www.google.com/search?q=pictorial+presentation+of+nondisjunction+in+down+syndrome&biwdown-syndrome// 17/11/2016 .