Down Syndrome

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discussion of common medical problems associated with downs' syndrome

rsm, md

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Down Syndrome

  1. 1. Dr. Ronald Sanchez – Magbitang <ul><li>EDUCATIONAL ATTAINMENT </li></ul><ul><li>NEHS </li></ul><ul><li>UST – B.S. Biology (Pre-Med) </li></ul><ul><li>SLU – Doctor of Medicine </li></ul><ul><li>(“Meritus”) </li></ul><ul><li>TRAININGS </li></ul><ul><li>Dr. PJGMRMC – Internal Medicine </li></ul><ul><li>Children's Medical Center – Hematology </li></ul><ul><li>RITM – 1 st In-Country Training in HIV AIDS </li></ul><ul><li>PCP Symposium and Conventions </li></ul><ul><li>PHA Conventions </li></ul><ul><li>PRESENT POSITION </li></ul><ul><li>Chief of Hospital </li></ul><ul><li>Gov. Eduardo L. Joson Memorial Hospital </li></ul><ul><li>Daan Sarile, Cabanatuan City </li></ul>
  2. 2. DOWN SYNDROME
  3. 4. <ul><li>HISTORY </li></ul><ul><li>English physician John Langdon Down first characterized Down syndrome as a distinct form of mental retardation in 1862 , and in a more widely published report in 1866 entitled &quot;Observations on an ethnic classification of idiots&quot;. </li></ul><ul><li>Due to his perception that children with Down syndrome shared physical facial similarities ( epicanthal folds ) with those of Blumenbach's Mongolian race , Down used terms such as mongolism and Mongolian idiocy . </li></ul><ul><li>Idiocy was a medical term used at that time to refer to a severe degree of intellectual impairment. Down wrote that mongolism represented &quot;retrogression,&quot; the appearance of Mongoloid traits in the children of allegedly more advanced Caucasian parents. </li></ul>
  4. 5. <ul><li>By the 20th century , &quot;Mongolian idiocy&quot; had become the most recognizable form of mental retardation. Most individuals with Down syndrome were institutionalized , few of the associated medical problems were treated, and most died in infancy or early adult life. </li></ul><ul><li>Until the middle of the 20th century , the cause of Down syndrome remained unknown . However, the presence in all races, the association with older maternal age, and the rarity of recurrence had been noticed. Standard medical texts assumed it was caused by a combination of inheritable factors which had not been identified. Other theories focused on injuries sustained during birth . </li></ul><ul><li>With the discovery of karyotype techniques in the 1950s , it became possible to identify abnormalities of chromosomal number or shape. In 1959 , Professor Jérôme Lejeune discovered that Down syndrome resulted from an extra chromosome. The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21 . </li></ul>
  5. 6. <ul><li>In 1961 , nineteen geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had &quot;misleading connotations,&quot; had become &quot;an embarrassing term,&quot; and should be changed. The Lancet supported Down's Syndrome . The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate. </li></ul><ul><li>In 1975 , the United States National Institutes of Health convened a conference to standardize the nomenclature of malformations . They recommended eliminating the possessive form: &quot;The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder.&quot; Although both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the USA , Canada and other countries; Down's syndrome is still used in the United Kingdom and other areas. </li></ul>
  6. 9. DOWN SYNDROME
  7. 10. DOWN SYNDROME <ul><li>Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome </li></ul><ul><li>It is named after John Langdon Down , the British doctor who first described it in 1866 </li></ul><ul><li>The condition is characterized by a combination of major and minor differences in body structure </li></ul><ul><li>Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance </li></ul><ul><li>Down syndrome is usually identified at birth. </li></ul>
  8. 11. <ul><li>Individuals with Down syndrome can have a lower than average cognitive ability, (no crap) often ranging from mild to moderate mental retardation </li></ul><ul><li>Developmental disabilities often manifest as a tendency toward concrete thinking or naïveté . A small number have severe to profound mental retardation </li></ul><ul><li>The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1,000 births. </li></ul>
  9. 12. <ul><li>Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome , either in whole ( trisomy 21) or part (such as due to translocations ) </li></ul><ul><li>The effects of the extra copy vary greatly among individuals, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. </li></ul>Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21.
  10. 13. <ul><li>The extra chromosomal material can come about in several distinct ways: </li></ul><ul><li>A normal human karyotype is designated as 46,XX or 46,XY , indicating 46 chromosomes with an XX arrangement for females and 46 chromosomes with an XY arrangement for males </li></ul>SEX chromosomes Trisomy 21 (3 copies of chromosone 21)
  11. 14. <ul><li>TRISOMY 21 </li></ul><ul><li>Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete ( i.e. , a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21 </li></ul><ul><li>Trisomy 21 is the cause of approximately 95% of observed Down syndromes , with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete. </li></ul>
  12. 15. <ul><li>MOSAICISM </li></ul><ul><li>Trisomy 21 is generally caused prior to conception, and all cells in the body are affected. However, when some of the cells in the body are normal and other cells have trisomy 21, it is called Mosaic Down syndrome (46,XX/47,XX,+21) </li></ul><ul><li>This can occur in one of two ways: </li></ul><ul><ul><li>A nondisjunction event during an early cell division in a normal embryo leads to a fraction of the cells with trisomy 21 </li></ul></ul><ul><ul><li>A Down syndrome embryo undergoes nondisjunction and some of the cells in the embryo revert back to the normal chromosomal arrangement </li></ul></ul><ul><li>There is considerable variability in the fraction of trisomy 21, both as a whole and among tissues. This is the cause of 1–2% of the observed Down syndromes. </li></ul>
  13. 16. <ul><li>ROBERTSONIAN TRANSLOCATION </li></ul><ul><li>The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation . In this case, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14 (45,XX, t(14;21q)) or itself (called an isochromosome , 45,XX, t(21q;21q)) </li></ul><ul><li>Normal disjunctions leading to gametes have a significant chance of creating a gamete with an extra chromosome 21 </li></ul><ul><li>Translocation Down syndrome is often referred to as familial Down syndrome </li></ul><ul><li>It is the cause of 2-3% of observed cases of Down syndrome . It does not show the maternal age effect, and is just as likely to have come from fathers as mothers. </li></ul>
  14. 17. <ul><li>DUPLICATION OF PORTION OF CHROMOSOME 21 </li></ul><ul><li>Rarely, a region of chromosome 21 will undergo a duplication event </li></ul><ul><li>This will lead to extra copies of some, but not all, of the genes on chromosome 21 (46,XX, dup(21q)) </li></ul><ul><li>If the duplicated region has genes that are responsible for Down syndrome physical and mental characteristics, such individuals will show those characteristics </li></ul><ul><li>This cause is very rare and no rate estimates are available. </li></ul>
  15. 18. <ul><li>The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1,000 births </li></ul><ul><li>In 2006 , the Center for Disease Control estimated the rate as 1 per 733 live births in the United States (5429 new cases per year) </li></ul><ul><li>Approximately 95% of these are trisomy 21 </li></ul><ul><li>Down syndrome occurs in all ethnic groups and among all economic classes. </li></ul>Graph showing increased chance of Down syndrome compared to maternal age
  16. 19. <ul><li>Relationship of Down Syndrome Incidence to mothers age </li></ul><ul><li> Mother's Age Incidence of Down Syndrome </li></ul><ul><li> Under 30 < 1 in 1,000 </li></ul><ul><li> 30 - 34 1 in 900 </li></ul><ul><li> 35 1 in 400 </li></ul><ul><li> 36 1 in 300 </li></ul><ul><li> 37 1 in 230 </li></ul><ul><li> 38 1 in 180 </li></ul><ul><li> 39 1 in 135 </li></ul><ul><li> 40 1 in 105 </li></ul><ul><li> 42 1 in 60 </li></ul><ul><li> 44 1 in 35 </li></ul><ul><li> 46 1 in 20 </li></ul><ul><li> 48 1 in 16 </li></ul><ul><li> 49 1 in 12 </li></ul><ul><li>Source: Hook, E.G., Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age. </li></ul>
  17. 20. <ul><li>Maternal age influences the risk of conceiving a baby with Down syndrome </li></ul><ul><ul><li>At maternal age 20 to 24 , the risk is 1/1490 </li></ul></ul><ul><ul><li>At age 40 the risk is 1/60, and at age 49 the risk is 1/11 </li></ul></ul><ul><li>Although the risk 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 </li></ul><ul><li>Other than maternal age, no other risk factors are known. There does not appear to be a paternal age effect. </li></ul>
  18. 22. Prenatal Screening <ul><li>Pregnant women can be screened for various complications in their pregnancy </li></ul><ul><li>Many standard prenatal screens can discover Down syndrome </li></ul><ul><li>Genetic counseling along with genetic testing , such as amniocentesis , chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems </li></ul><ul><li>Genetic screens are often performed on pregnant women older than 30 or 35. </li></ul>
  19. 23. <ul><li>Amniocentesis and CVS are considered invasive procedures , in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage </li></ul><ul><li>There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester </li></ul><ul><ul><li>Due to the nature of screens, each has a significant chance of a false positive , suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic abnormality </li></ul></ul><ul><ul><li>Screen positives must be verified before a Down syndrome diagnosis is made </li></ul></ul>
  20. 24. Screening for: alpha feto protein; estriol, human chorionic gonadotropin; PAPPA; inhibin-alpha Uses ultrasound to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associate plasma protein A, Mendelian Inheritance in Man (OMIM) 176385 ). * NIH has confirmed that this first trimester test is more accurate than second trimester screening methods 5% 91% 10–13.5 Nuchal translucency/free beta/PAPPA screen This test measures the alpha feto protein , produced by the fetus, and free beta hCG , produced by the placenta. 2.8% 80% 13–22 AFP/free beta screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and high inhibin -Alpha (INHA) 7.5% 79% 15–20 Quad screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone). 8.5% 75% 15–20 Triple screen Description False positive rate Detection rate When performed (weeks gestation) Screen Common first and second trimester Down syndrome screens
  21. 25. <ul><li>Even with the best non-invasive screens </li></ul><ul><ul><li>detection rate is 90%–95% </li></ul></ul><ul><ul><li>rate of false positive is 2%–5% </li></ul></ul><ul><li>False positives can be caused by undetected multiple fetuses (very rare with the ultrasound tests), incorrect date of pregnancy, or normal variation in the proteins. </li></ul><ul><li>Confirmation of screen positive is normally accomplished with amniocentesis </li></ul><ul><ul><li>This is an invasive procedure and involves taking amniotic fluid from the mother and identifying fetal cells </li></ul></ul><ul><ul><li>The lab work can take several weeks but will detect over 99.8% of all numerical chromosomal problems with a very low false positive rate </li></ul></ul>Ultrasound of fetus with Down syndrome and megacystis.
  22. 26. <ul><li>Screening Strategies for Down's syndrome </li></ul><ul><li>Procedure    Detection rate </li></ul><ul><li>First trimester screening (10 to 14 weeks): </li></ul><ul><li>Maternal age 32% </li></ul><ul><li>Nuchal translucency measurement ( by ultrasound )   74% </li></ul><ul><li>First trimester double test (PAPP-A, HCG)   63% </li></ul><ul><li>First trimester combined test (nuchal translucency, PAPP-A, HCG) 86% </li></ul><ul><li>Second trimester screening (15 to 19 weeks): </li></ul><ul><li>Maternal age 32% </li></ul><ul><li>Second trimester double test ( AFP , HCG)   60% </li></ul><ul><li>Triple test ( AFP , HCG, uE3)   68% </li></ul><ul><li>Quadruple test ( AFP , HCG, uE3, inhibin A)   79% </li></ul><ul><li>Integrated test (first trimester: nuchal translucency, PAPP-A; </li></ul><ul><li>second trimester: quadruple test)    95% </li></ul><ul><li>Prenatal diagnosis:    </li></ul><ul><li>Amniocentesis (15 weeks)   100% </li></ul><ul><li>Chorionic villus sampling (11-14 weeks)    100% </li></ul><ul><li>Data from United Kingdom: Gilbert etal ., British Medical Journal 2001; 323: 423 </li></ul><ul><li>AFP = fetoprotein, HCG = human chorionic gonadotrophin, PAPP-A = pregnancy associated plasma protein A, uE3 = unconjugated oestriol. </li></ul><ul><li>Termination (UK): Surgical dilatation, evacuation (11 to 13 weeks), Medical with mifepristone (14 weeks) </li></ul><ul><li>Termination strategies and regulations differ from country to country. </li></ul>
  23. 27. BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED (One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group)
  24. 28. <ul><li>1. Between 40 and 50% of babies with Down’s syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects. Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established . </li></ul><ul><li>2. There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome </li></ul><ul><li>3. It is essential to establish the cardiac status of every child by age 6 weeks. </li></ul><ul><li>4. Clinical examination alone is insufficient to detect all of even the most serious abnormalities </li></ul>
  25. 29. <ul><li>5. It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect ) will be missed if one of the following courses of action is taken: </li></ul><ul><li>Either: Clinical examination plus echocardiogram in the newborn period, both carried out by an appropriate person (see below). </li></ul><ul><li>or: Clinical examination plus electrocardiogram(ECG) and chest X-ray(CXR) for all newborns and again at age 6 weeks, followed by echocardiography only for those with abnormal findings. </li></ul><ul><li>However, even if early investigations are reported as 'normal', if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age. </li></ul>
  26. 30. <ul><li>6. It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops. </li></ul><ul><li>7. It is recognized that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance. </li></ul>
  27. 31. <ul><li>8. Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures. </li></ul><ul><li>9. It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems. </li></ul><ul><li>10. There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life. </li></ul><ul><li>11. If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started. </li></ul>
  28. 33. <ul><li>There are many medical problems that are commonly found in people with Down’s Syndrome as well as cardiac conditions </li></ul><ul><li>These are usually not major problems in themselves, but they can affect health and development and should be screened for so that early diagnosis and treatment can be made </li></ul><ul><li>Sometimes doctors are not fully aware of these issues in relation to Down’s Syndrome and they may put them down to being part of the syndrome itself or even related to the heart condition. </li></ul>
  29. 34. <ul><li>It is important for everyone with Down’s Syndrome that these medical problems are recognized and treated, but particularly for those with cardiac issues as developmental delays may be attributed to poor health and hospitalization due to the heart and thus other problems may be overlooked </li></ul><ul><li>Relevant tests are carried out according to the guidelines issued by the Down’s Syndrome Medical Interest Group ( www.dsmig.org.uk ). </li></ul>
  30. 35. <ul><li>BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH </li></ul><ul><li>DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED </li></ul><ul><li>(One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group) </li></ul><ul><li>1. Between 40 and 50% of babies with Down’s syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects. Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established . </li></ul><ul><li>2. There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome </li></ul><ul><li>3. It is essential to establish the cardiac status of every child by age 6 weeks. </li></ul><ul><li>4. Clinical examination alone is insufficient to detect all of even the most serious abnormalities </li></ul><ul><li>5. It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect ) will be missed if one of the following courses of action is taken: </li></ul><ul><li>Either: Clinical examination plus echocardiogram in the newborn period, both carried out by an appropriate person (see below). </li></ul><ul><li>or: Clinical examination plus electrocardiogram(ECG) and chest X-ray(CXR) for all newborns and again at age 6 weeks, followed by echocardiography only for those with abnormal findings. </li></ul><ul><li>However, even if early investigations are reported as 'normal', if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age. </li></ul><ul><li>6. It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops. </li></ul><ul><li>7. It is recognised that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance. </li></ul><ul><li>8. Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures.(sample document available) </li></ul><ul><li>9. It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems. </li></ul><ul><li>10. There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life. </li></ul><ul><li>11. If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started. </li></ul>
  31. 36. Physical Features of Down Syndrome <ul><li>Individuals with Down syndrome may have some or all of the following physical characteristics: </li></ul><ul><ul><li>oblique eye fissures with epicanthic skin folds on the inner corner of the eyes </li></ul></ul><ul><ul><li>muscle hypotonia (poor muscle tone) </li></ul></ul><ul><ul><li>flat nasal bridge </li></ul></ul><ul><ul><li>single palmar fold (also known as a simian crease) </li></ul></ul><ul><ul><li>protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils) </li></ul></ul><ul><ul><li>short neck </li></ul></ul><ul><ul><li>white spots on the iris known as Brushfield spots </li></ul></ul><ul><ul><li>excessive flexibility in joints </li></ul></ul><ul><ul><li>congenital heart defects </li></ul></ul><ul><ul><li>excessive space between large toe and second toe, and a single flexion furrow of the fifth finger </li></ul></ul>
  32. 37. <ul><li>Common Physical Characteristics in Neonates with Down Syndrome </li></ul><ul><li>Characteristic Range of occurrence (%) </li></ul><ul><li>Brachycephaly 63 to 98 </li></ul><ul><li>Oblique palpebral fissures 70 to 98 </li></ul><ul><li>Gap between first and second toes 44 to 97 </li></ul><ul><li>Loose skin on nape of neck 17 to 94 </li></ul><ul><li>Hyperflexibility 47 to 92 </li></ul><ul><li>Ear abnormalities (set low, folded, stenotic meatus) 28 to 91 </li></ul><ul><li>Protruding tongue secondary to small, narrow palate 32 to 89 </li></ul><ul><li>Flat nasal bridge 57 to 87 </li></ul><ul><li>Muscular hypotonia 21 to 85 </li></ul><ul><li>Epicanthal folds 28 to 79 </li></ul><ul><li>Brushfield spots (ring of iris speckles) 35 to 78 </li></ul><ul><li>Short fifth finger 51 to 77 </li></ul><ul><li>In-curved fifth finger 43 to 77 </li></ul><ul><li>Short broad hands 38 to 75 </li></ul><ul><li>High arched palate 59 to 74 </li></ul><ul><li>Single palmar crease 42 to 64 </li></ul><ul><li>Congenital cardiac defect (about one half </li></ul><ul><li>are complete atrioventricular canal defects) * 40 to 50 </li></ul><ul><li>Transient myelodysplasia of the newborn * About 10 </li></ul><ul><li>Duodenal atresia * 5 to 8 </li></ul><ul><li>* --Highly specific for Down syndrome. </li></ul>
  33. 38. <ul><li>Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range, with scores of children having Mosaic Down syndrome typically 10–30 points higher </li></ul><ul><li>In addition, individuals with Down syndrome can have serious abnormalities affecting any body system. </li></ul>
  34. 39. <ul><li>White spot on the iris called Brushfield spots </li></ul>
  35. 40. <ul><li>The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process </li></ul><ul><li>The health aspects of Down syndrome encompass </li></ul><ul><ul><li>anticipating and preventing effects of the condition </li></ul></ul><ul><ul><li>recognizing complications of the disorder </li></ul></ul><ul><ul><li>managing individual symptoms </li></ul></ul><ul><ul><li>assisting the individual and his/her family in coping and thriving with any related disability or illnesses </li></ul></ul>
  36. 41. <ul><li>The most common manifestations of Down syndrome: </li></ul><ul><ul><li>characteristic facial features </li></ul></ul><ul><ul><li>cognitive impairment </li></ul></ul><ul><ul><li>congenital heart disease </li></ul></ul><ul><ul><li>hearing deficits </li></ul></ul><ul><ul><li>short stature </li></ul></ul><ul><ul><li>thyroid disorders </li></ul></ul><ul><ul><li>Alzheimer's disease </li></ul></ul><ul><li>Other less common serious illnesses include </li></ul><ul><ul><li>Leukemia </li></ul></ul><ul><ul><li>immune deficiencies </li></ul></ul><ul><ul><li>epilepsy </li></ul></ul>
  37. 42. <ul><li>These can contribute to a significantly shorter lifespan for people with Down syndrome </li></ul><ul><ul><li>One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups </li></ul></ul><ul><li>Fertility amongst both males and females is reduced, with only three recorded instances of males with Down syndrome fathering children </li></ul>
  38. 43. <ul><li>The Atlanta Down Syndrome Project </li></ul><ul><ul><li>a population-based study of infants born with trisomy 21, provides a resource </li></ul></ul><ul><ul><li>In the first 6.5 years of the study, 243 trisomy 21 livebirths were identified in the five-county Atlanta area (birth prevalence: 9.6/10,000) </li></ul></ul><ul><ul><li>Cardiac diagnoses were available on 227 (93%) of the cases and 89% of these evaluations were made by echocardiography, cardiac catheterization, surgery, or autopsy </li></ul></ul><ul><li>Of the 227 DS infants, 44% had CHDs including: </li></ul><ul><ul><li>45% atrioventricular septal defect (with or without other CHDs) </li></ul></ul><ul><ul><li>35% ventricular septal defect (with or without other CHDs) </li></ul></ul><ul><ul><li>8% isolated secundum atrial septal defect </li></ul></ul><ul><ul><li>7% isolated persistent patent ductus arteriosus </li></ul></ul><ul><ul><li>4% isolated tetralogy of Fallot </li></ul></ul><ul><ul><li>1% other. </li></ul></ul>
  39. 44. <ul><li>In another study of infants born with Down Syndrome, revealed that: </li></ul><ul><li>Congenital heart defects are common (40 to 60%) in Down’s babies </li></ul><ul><li>Approximately 30 to 40% have complete atrioventricular septal defects . </li></ul><ul><li>Early diagnosis generally allows corrective surgery to be performed for most of these septal defects. </li></ul>
  40. 45. <ul><li>What causes congenital heart disease? </li></ul><ul><li>Doctors do not know what causes most cases of congenital heart defects. Heredity may play a role. In rare cases, more than one child in a family is born with a heart defect. Also, parents who have a congenital heart defect may be more likely than other parents to have a child with the condition. </li></ul><ul><li>Babies who have certain other birth defects, such as Down syndrome , are also more likely to have congenital heart defects. </li></ul><ul><li>Other factors that raise the risk for congenital heart defects are: </li></ul><ul><ul><li>Having viral infections, such as German measles (rubella), during pregnancy </li></ul></ul><ul><ul><li>Having diabetes </li></ul></ul><ul><ul><li>Taking some types of prescription or over-the-counter medicines during pregnancy </li></ul></ul><ul><ul><li>Being repeatedly exposed to some chemicals or x rays during pregnancy </li></ul></ul><ul><ul><li>Using alcohol or street drugs during pregnancy </li></ul></ul><ul><ul><li>Research continues to find the causes of congenital heart defects. </li></ul></ul>
  41. 46. <ul><li>A Congenital Heart Defect (CHD) is a heart problem which is present at birth, caused by improper development of the heart during fetal development </li></ul><ul><li>In the majority of the instances when a baby is born with congenital heart disease, there is no known reason for the heart to have formed improperly </li></ul><ul><li>Scientists know that some types of congenital heart defects can be related to: </li></ul><ul><ul><li>an abnormality of an infant's chromosomes (5 to 6 percent) </li></ul></ul><ul><ul><li>single gene defects (3 to 5 percent) </li></ul></ul><ul><ul><li>or environmental factors (2 percent) </li></ul></ul><ul><ul><li>In 85 to 90 percent of cases, there is no identifiable cause for the heart defect, and they are generally considered to be caused by multifactorial inheritance . </li></ul></ul><ul><li>Multifactorial inheritance means that &quot;many factors&quot; (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition. </li></ul>
  42. 47. <ul><li>Chromosome abnormalities and CHD </li></ul><ul><li>Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations </li></ul><ul><ul><li>Five to 8 percent of all babies with CHD have a chromosome abnormality </li></ul></ul><ul><ul><li>Chromosomes are the structures in your cells that contain your genes; genes code for your traits such as eye color and blood type </li></ul></ul><ul><ul><li>Usually there are 46 chromosomes in each cell of the body. Having too many or too few chromosomes results in health problems and birth defects </li></ul></ul><ul><ul><li>Structural defects of the chromosomes, where a piece of the chromosome is missing or present in duplicate, also causes health problems. </li></ul></ul>
  43. 48. <ul><li>Congenital heart defects are present in 40 to 60 percent of infants with Down syndrome. </li></ul><ul><li>Consequently, all newborns with the syndrome should have an electrocardiogram and a screening echocardiogram, even if a murmur is not present. </li></ul><ul><li>The long-term prognosis is best when an infant with a cardiac defect is promptly referred to a pediatric cardiologist for medical management to prevent pulmonary hypertension or to a pediatric cardiac surgeon for early surgical repair. </li></ul>
  44. 49. <ul><li>The most common anomalies are: </li></ul><ul><ul><li>complete atrioventricular canal defects (60 percent) </li></ul></ul><ul><ul><li>ventricular septal defects (32 percent) </li></ul></ul><ul><ul><li>tetralogy of Fallot (6 percent) </li></ul></ul><ul><ul><li>ostium secundum atrial septal defect (1 percent) </li></ul></ul><ul><ul><li>isolated mitral cleft (1 percent) </li></ul></ul>
  45. 50. What are some of the most common heart defects and how are they treated?
  46. 51. <ul><li>Patent ductus arteriosus </li></ul><ul><li>Before birth, a large artery ( ductus arteriosus ) lets the blood bypass the lungs because the fetus gets its oxygen through the placenta </li></ul><ul><li>The ductus normally closes soon after birth so that blood can travel to the lungs and pick up oxygen. If it doesn’t close, the baby may develop heart failure </li></ul><ul><li>This problem occurs most frequently in premature babies </li></ul><ul><li>Drug treatment often can close the ductus </li></ul><ul><li>If that doesn't work, surgery can close it. </li></ul>
  47. 53. <ul><li>Septal defect </li></ul><ul><li>This is a hole in the wall (septum) that divides the right and left sides of the heart </li></ul><ul><li>A hole in the wall between the heart’s two upper chambers is called an atrial septal defect , while a hole between the lower chambers is called a ventricular septal defect </li></ul><ul><li>These defects can cause the blood to circulate improperly, so the heart has to work too hard </li></ul><ul><li>A surgeon can close the hole by sewing or patching it </li></ul><ul><li>Small holes may heal by themselves or not need repair at all. </li></ul>
  48. 55. <ul><li>Coarctation of the aorta </li></ul><ul><li>Part of the aorta, the large artery that sends blood from the heart to the rest of the body, may be too narrow for the blood to flow evenly </li></ul><ul><li>A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material, or patch it with part of a blood vessel taken from elsewhere in the body </li></ul><ul><li>Sometimes, this narrowed area can be widened by inflating a balloon on the tip of a catheter (tube) inserted through an artery. </li></ul>
  49. 57. <ul><li>Heart valve abnormalities </li></ul><ul><li>Some babies are born with heart valves that do not close normally or are narrowed or blocked, so blood can’t flow smoothly </li></ul><ul><li>Surgeons usually can repair the valves or replace them with man-made ones </li></ul><ul><li>Balloons on catheters also are frequently used to fix faulty valves. </li></ul>
  50. 58. <ul><li>Valvular heart disease is any disease process involving one or more valves of the heart . </li></ul><ul><li>The valves in the right side of the heart are the tricuspid valve and the pulmonic valve . </li></ul><ul><li>The valves in the left side of the heart are the mitral valve and the aortic valve . </li></ul>
  51. 59. <ul><li>Each valve may be too narrow ( stenosis ) or too wide or loose, causing regurgitation . There are different types of valvular heart disease: </li></ul><ul><ul><ul><li>Aortic insufficiency </li></ul></ul></ul><ul><ul><ul><li>Aortic valve stenosis </li></ul></ul></ul><ul><ul><ul><li>Endocarditis </li></ul></ul></ul><ul><ul><ul><li>Heart valve dysplasia </li></ul></ul></ul><ul><ul><ul><li>Libman-Sacks endocarditis </li></ul></ul></ul><ul><ul><ul><li>Loeffler endocarditis </li></ul></ul></ul><ul><ul><ul><li>Mitral regurgitation </li></ul></ul></ul><ul><ul><ul><li>Mitral stenosis </li></ul></ul></ul><ul><ul><ul><li>Mitral valve prolapse </li></ul></ul></ul><ul><ul><ul><li>Pulmonary valve stenosis </li></ul></ul></ul><ul><ul><ul><li>Tricuspid insufficiency </li></ul></ul></ul><ul><ul><ul><li>Tricuspid valve stenosis </li></ul></ul></ul>
  52. 61. <ul><li>Tetralogy of Fallot </li></ul><ul><li>This combination of four heart defects keeps some blood from getting to the lungs </li></ul><ul><li>As a result, the blood that is pumped to the body may not have enough oxygen </li></ul><ul><li>Affected babies have episodes of cyanosis and may grow poorly </li></ul><ul><li>This defect is usually surgically repaired at around 3 to 6 months of age (10) </li></ul><ul><li>Most affected children live normal or near-normal lives. </li></ul>
  53. 62. <ul><li>Pulmonary Valve stenosis; 2. VSD; 3. Overriding of the Aorta; 4.RVH </li></ul>
  54. 63. The Heart with TETRALOGY OF FALLOT <ul><li>In Tetralogy of Fallot , there are four specific defects in the heart: </li></ul><ul><li>Pulmonary valve stenosis is a narrowing of the pulmonary valve and the area below the valve. This narrowing slows the flow of blood from the right side of the heart to the lungs. The heart must pump harder to push blood through the smaller opening to the lungs where the blood picks up oxygen. </li></ul><ul><li>Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers (ventricles) of the heart. </li></ul><ul><li>Overriding aorta is a defect in the position of the large artery (aorta) that takes oxygen-rich blood to the body. In a normal heart, the aorta attaches to the left lower chamber of the heart (ventricle). In tetralogy of Fallot, the aorta sits between the left and right ventricles, over the VSD. This causes mixing of oxygen-rich blood and oxygen-poor blood. </li></ul><ul><li>Right ventricular hypertrophy is the thickening of the right lower chamber of the heart (ventricle). Unlike other muscles in your body, when the heart thickens, it does not work well. The heart has to pump harder to move blood through the narrowed pulmonary valve and the area below it. </li></ul>
  55. 64. <ul><li>Transposition of the great arteries </li></ul><ul><li>Transposition occurs when the positions of the two major arteries leaving the heart are reversed, so that each arises from the wrong pumping chamber </li></ul><ul><li>Affected newborns suffer from severe cyanosis due to a lack of oxygen in the blood </li></ul><ul><li>Recent surgical advances make it possible to correct this otherwise lethal defect in the newborn period. </li></ul>
  56. 66. <ul><li>Hypoplastic left heart syndrome </li></ul><ul><li>This combination of defects results in a left ventricle (the heart’s main pumping chamber) that is too small to support life </li></ul><ul><li>This defect is the most common cause of death from congenital heart disease. However, over the past 20 years, survival rates have dramatically improved with new surgical procedures and, less frequently, heart transplants </li></ul><ul><li>The long-term outlook for children with this heart defect remains uncertain. </li></ul>
  57. 68. <ul><li>Heart </li></ul><ul><li>About 40 – 60% of babies born with Down’s Syndrome have congenital heart defects and not all of these will exhibit symptoms in the first few months of life. </li></ul><ul><li>Accordingly all babies diagnosed as having Down’s Syndrome should be screened for cardiac problems and this should be done within the first six weeks after birth to ensure that serious abnormalities can be treated at the optimum time. </li></ul><ul><li>Clinical examination alone is not sufficient and should be carried out together with either an echocardiogram (performed by someone with appropriate paediatric experience) or with an electrocardiogram (ECG) and chest x-ray (again these should be examined by someone with appropriate paediatric experience). </li></ul>
  58. 69. <ul><li>Where problems are suspected as a result of these tests, there should be immediate referral to a paediatric cardiologist so that if surgery is necessary it can be performed before pulmonary vascular disease develops. </li></ul><ul><li>It is also known that there is an increased incidence of mitral valve prolapse (where the mitral valve balloons back into the left atrium when the left ventricle pumps, sometimes allowing blood to leak backward) and aortic regurgitation (where the aortic valve allows backflow from the aorta to the left ventricle) in adults with Down’s Syndrome. This puts them at risk of endocarditis and antibiotic cover will be required when any dental procedure is carried out. </li></ul><ul><li>The Down’s Syndrome Medical Interest Group recommends echocardiogram screening early in adult life for everyone with Down’s Syndrome, and prophylactic cover (medication to guard against endocarditis) for anyone in a risk situation who has not had an echo as an adult. </li></ul>
  59. 70. Other Medical Problems Associated with Down Syndrome
  60. 71. Other Medical Problems in Down Syndrome <ul><li>Cervical spine (atlanto-axial instability) </li></ul><ul><li>A small number of people with Down’s Syndrome are at risk of spinal injury due to a weakness in the joint at the top of the spine. </li></ul><ul><ul><li>There is currently no way of screening for this weakness and there is no reason to exclude sporting activities as the risk is small, although care needs to be taken when giving anaesthetic to people with Down’s Syndrome and caution is advised should they be involved in a road traffic accident. </li></ul></ul><ul><ul><li>Should a person with Down’s Syndrome develop unexplained neck pain, pain behind the ear, weakness in the arms and legs or problems with bladder or bowel functions, immediate referral should be made to the GP with a view to urgent investigation of the upper neck. </li></ul></ul>
  61. 72. <ul><li>Orthopedic problems are also associated with Down syndrome. Infants and children with these problems may need to be referred to a pediatric orthopedist , a physical therapist or both . </li></ul><ul><li>In some situations, surgery may be necessary to preserve function. </li></ul><ul><li>Formerly, radiographs of the flexed and extended cervical spine were recommended as screening tests for atlantoaxial instability when children with Down syndrome reach the age of two years or before they undergo general anesthesia. </li></ul><ul><li>Although screening radiographs are controversial, 13 percent of children with Down syndrome have asymptomatic atlantoaxial instability that should be monitored and that precludes their participation in contact sports. </li></ul>
  62. 73. <ul><li>Common Orthopedic Problems in Children with Down Syndrome </li></ul><ul><li>• Atlanto-occipital instability </li></ul><ul><li>• Atlantoaxial instability </li></ul><ul><li>• Hyperflexibility </li></ul><ul><li>• Scoliosis </li></ul><ul><li>• Late hip dislocation (after two years of age) </li></ul><ul><li>• Slipped capital femoral epiphysis </li></ul><ul><li>• Patellar subluxation or dislocation </li></ul><ul><li>• Foot deformities </li></ul><ul><li>Information from Diamond L. Orthopedic disorders in Down syndrome. In: Lott IT, McCoy EE, eds. Down syndrome: advances in medical care. New York: Wiley-Liss, 1992:111-26 . </li></ul>
  63. 74. <ul><li>Dental </li></ul><ul><li>Annual dental check ups are very important for anyone with a heart condition as oral hygiene plays an important part in the prevention of bacteria entering the blood stream where they can cause endocarditis . </li></ul><ul><li>Dental problems are common in young children with Down syndrome. Thus, proper dental hygiene and preventive care are essential. </li></ul><ul><li>Children with heart defects who are undergoing dental procedures should be given antibiotic prophylaxis against subacute bacterial endocarditis. </li></ul>
  64. 75. <ul><li>Common Dental Problems in Children with Down Syndrome </li></ul><ul><li>• Delayed eruption </li></ul><ul><li>• Atypical patterns of eruption </li></ul><ul><li>• Congenitally missing teeth </li></ul><ul><li>• Unusually shaped teeth </li></ul><ul><li>• Enamel defects </li></ul><ul><li>• Orthodontic problems </li></ul><ul><li>• Bruxism </li></ul><ul><li>• Periodontal disease </li></ul><ul><li>Information from Sterling E. Oral and dental considerations in Down syndrome. In: Lott IT, McCoy EE, eds. Down syndrome: advances in medical care. New York: Wiley-Liss, 1992:135-46. </li></ul>
  65. 76. <ul><li>Gastrointestinal Defects </li></ul><ul><li>Various gastrointestinal defects are also associated with Down syndrome. An upper gastrointestinal series or a barium enema may be required to diagnose or confirm the specific defects in a newborn with feeding or stooling problems. </li></ul><ul><li>Immediate surgical intervention may be necessary to correct a gastrointestinal defect. Down syndrome should not be a deterrent to this surgery. </li></ul><ul><li>Infants with Down syndrome may also have significant problems with gastroesophageal reflux. Formal evaluation by barium swallow may be necessary. Treatment options include sleeping with the head raised (although evidence is not available showing that this measure helps infants with Down syndrome) and medications such as cisapride (Propulsid). </li></ul><ul><li>Constipation , another common problem, can usually be managed with dietary manipulation. </li></ul>
  66. 77. <ul><li>Gastrointestinal Anomalies in Children with Down Syndrome </li></ul><ul><li>• Esophageal atresia </li></ul><ul><li>• Tracheoesophageal fistula </li></ul><ul><li>• Pyloric stenosis </li></ul><ul><li>• Duodenal atresia </li></ul><ul><li>• Meckel's diverticulum </li></ul><ul><li>• Hirschsprung's disease </li></ul><ul><li>• Imperforate anus </li></ul><ul><li>Information from Pueschel SM, Anneren G, Durlach R, Flores J, Sustrova M, Verma IC. Guidelines for optimal medical care of persons with Down syndrome. Acta Paediatr 1995;84:823-7, and Cooley WC, Graham JM Jr. Down syndrome--an update and review for the primary pediatrician. Clin Pediatr [Phila] 1991;30:233-53. </li></ul>
  67. 78. <ul><li>Ear, Nose and Throat Problems </li></ul><ul><li>Because of midfacial malformations that prevent optimal drainage of eustachian tubes and sinuses, older infants with Down syndrome are more susceptible to otitis media, sinusitis and pharyngitis. </li></ul><ul><li>If an infant's small external canals make it impossible for the family physician to visualize the tympanic membranes, referral to an ear, nose and throat subspecialist may be necessary. </li></ul><ul><li>If otitis media, sinusitis or pharyngitis is caused by bacteria, the infection should be treated promptly and aggressively to prevent associated sequelae. These sequelae can include hearing loss, chronic infection, pneumonia, sepsis, endocarditis or congestive heart failure in infants with concomitant heart defects. </li></ul>
  68. 79. <ul><li>Auditory brainstem response testing to evaluate for hearing loss should be performed when an infant with Down syndrome is six months old (if such testing was not done earlier). </li></ul><ul><li>Since decongestants may cause tachycardia, they should not be used in infants with heart defects. Fever may cause tachycardia and should be managed appropriately. </li></ul>
  69. 80. <ul><li>Hearing </li></ul><ul><li>A large percentage of people with Down’s Syndrome have significant hearing loss, most frequently due to glue ear (otitis media with effusion). </li></ul><ul><li>First assessments can be carried out a few months after birth , but there should be provision for continued assessment and treatment of any hearing loss as hearing plays such a huge part in speech and language development. </li></ul>
  70. 81. <ul><li>Endocrine Disorders </li></ul><ul><li>Endocrine disorders, particularly thyroid disease , are more common in infants with Down syndrome. Since the symptoms of thyroid disease often mimic the symptoms generally associated with Down syndrome, a sensitive thyroid-stimulating hormone test should be performed at least yearly.16 </li></ul><ul><li>Gonadal dysfunction and growth hormone deficiency are also associated with Down syndrome. These problems may require hormonal therapy. </li></ul>
  71. 82. <ul><li>Thyroid </li></ul><ul><li>There is a higher incidence of thyroid problems in people with Down’s Syndrome than in the population as a whole - Hypothyroidism (underactive thyroid) is more common although Hyperthyroidism (overactive thyroid) is also found. </li></ul><ul><li>Either condition needs to be treated as the thyroid gland is responsible for controlling the body’s metabolism and incorrect levels of thyroxin (the hormone secreted by the thyroid gland) can affect growth and development as well having some uncomfortable side effects such as lethargy, weight gain or weight loss and palpitations. </li></ul><ul><li>Clinical examination alone is not sufficient to identify thyroid problems in those with Down’s Syndrome. Regular blood tests of thyroid function need to be carried out. </li></ul>
  72. 83. <ul><li>Vision </li></ul><ul><li>There is a high incidence of vision problems in people with Down's Syndrome , these include not only long and short sight but also poor focusing at near, squints, congenital cataracts, nystagmus and keratoconus . </li></ul><ul><li>Vision should be checked and monitored regularly throughout life. </li></ul><ul><li>Eye examinations are possible even in very young children unable to read a letter chart. </li></ul><ul><li>The Down's Syndrome Vision Research Unit is studying eye defects and visual development in individuals with Down's syndrome and their effect on learning. </li></ul>
  73. 84. <ul><li>Ophthalmologic Problems in Children with Down Syndrome </li></ul><ul><li>• Congenital and acquired cataracts </li></ul><ul><li>• Nystagmus </li></ul><ul><li>• Strabismus </li></ul><ul><li>• Dacryostenosis </li></ul><ul><li>• Blepharitis </li></ul><ul><li>• Keratoconus </li></ul><ul><li>• Refractive errors (myopia, astigmatism) </li></ul><ul><li>• Amblyopia </li></ul><ul><li>• Increased retinal vasculature </li></ul><ul><li>• Glaucoma </li></ul><ul><li>Information from Lang D. Susceptibility to infectious disease in Down syndrome. In: Lott IT, McCoy EE, eds. Down syndrome: advances in medical care. New York: Wiley-Liss, 1992:83-92. </li></ul>
  74. 86. <ul><li>Brain impairments associated with Down Syndrome </li></ul><ul><li>  </li></ul><ul><li>Children with Down Syndrome are primarily hurt throughout the midbrain and cortical areas of the brain. </li></ul><ul><li>This affects speech, understanding, vision and the development of manual function. </li></ul><ul><li>Children with these symptoms often have mild to severe problems in the midbrain area; therefore, they display problems with basic hearing, visual convergence, sensation and physical coordination. </li></ul><ul><li>These children are often also much delayed in mobility development. </li></ul>
  75. 87. <ul><li>Other Problems: </li></ul><ul><li>Congenital cataracts occur more frequently in children with Down syndrome than in other children. Consequently, the red (fundus) reflexes should be checked at birth. Consultation with a pediatric ophthalmologist during the first year is necessary to evaluate an infant for ocular problems that may be correctable. </li></ul><ul><li>Transient myeloproliferative disorder (leukemoid reaction) occurs in approximately 10 percent of newborns with Down syndrome. This disorder is extremely rare in other infants. Phenotypically normal infants who exhibit leukemoid reactions within the first two months of life should be evaluated by karyotype for mosaic Down syndrome. </li></ul>
  76. 88. <ul><li>Acute Lymphoblastic Leukemia and Nonlymphoblastic Leukemia children who have Down syndrome have a substantially increased risk for both (1 percent). The treatment of leukemia is the same in children with Down syndrome as in other children. However, the toxicity of some chemotherapeutic agents is increased in patients with Down syndrome. </li></ul><ul><li>Seizures occur in 5 to 10 percent of children with Down syndrome. Generalized tonic-clonic seizures are the most common, but myoclonic and hypsarrhythmia types also occur. Seizures are diagnosed and treated similarly in children with and children without Down syndrome . </li></ul>
  77. 89. <ul><li>Growth </li></ul><ul><li>Although it is recognized that people with Down’s Syndrome tend to be shorter than their peers, there are occasionally medical problems which can affect growth which need to be identified and treated. </li></ul><ul><li>Regular weight and height checks should be made during the first two years of life and then annually throughout childhood and on a regular basis in adulthood . </li></ul><ul><li>These should be recorded on the specific growth charts that are available for Down’s Syndrome. </li></ul><ul><li>Failure to gain weight as a baby or sudden weight loss or gain later in life needs to be taken in consideration with general health and nutrition as it may indicate an underlying medical problem that needs investigation. </li></ul>
  78. 90. Evaluation of Growth in Down Syndrome <ul><li>Growth parameters should be plotted at each visit. Both standard and Down syndrome growth curves should be used. </li></ul><ul><ul><li>Infants with heart defects are smaller than other children with Down syndrome who are the same age. However, these infants still maintain an adequate rate of growth if their daily caloric intake is sufficient (i.e., up to 200 kcal per kg per day). After the cardiac defect has been repaired, parents should be cautioned against continuing the calorie-dense diet, as obesity is a significant problem in many older children with Down syndrome. </li></ul></ul><ul><li>The cause of any significant drop in growth percentile on either the standard or Down syndrome growth curve should be investigated. </li></ul><ul><ul><li>Undiagnosed heart defects are the most common reasons for failure to thrive in infants with Down syndrome. </li></ul></ul><ul><ul><li>Leukemia should also be considered. </li></ul></ul><ul><ul><li>Unexplained weight gain should prompt an investigation for hypothyroidism. </li></ul></ul>
  79. 91. <ul><li>Health Maintenance </li></ul><ul><li>Proper immunizations are extremely important, because structural anomalies make infants with Down syndrome more susceptible to upper respiratory and ear, nose and throat infections. </li></ul><ul><li>All infants with Down syndrome should receive the standard recommended series of immunizations: </li></ul><ul><ul><li>diphtheria and tetanus toxoids and pertussis vaccine </li></ul></ul><ul><ul><li>live oral poliovirus vaccine </li></ul></ul><ul><ul><li>Haemophilus influenzae type b polysaccharide vaccine </li></ul></ul><ul><ul><li>measles-mumps-rubella combination vaccine. </li></ul></ul>
  80. 92. <ul><li>The hepatitis B vaccine series should be started at birth, whether the child will be living in an institutional setting or at home. This vaccine series is necessary because persons with Down syndrome are at increased risk of developing the carrier state if they are infected with hepatitis B virus. </li></ul><ul><li>Yearly influenza immunization has been suggested as another means of reducing the incidence of otitis media in infants and children with Down syndrome. </li></ul><ul><li>Varicella vaccine should be given when children with Down syndrome reach the age of one year. </li></ul><ul><li>When these children are two years old, the administration of polyvalent pneumococcal vaccine should be considered. </li></ul>
  81. 93. <ul><li>Developmental Assessment </li></ul><ul><li>All facets of development , should be evaluated at each visit, including </li></ul><ul><ul><li>gross and fine motor skills </li></ul></ul><ul><ul><li>language (speech and comprehension) </li></ul></ul><ul><ul><li>cognitive abilities </li></ul></ul><ul><ul><li>social and adaptive skills </li></ul></ul><ul><li>Since infants with Down syndrome are at risk for developmental delay, prompt referral (preferably at birth) should be made to an early intervention program. </li></ul>
  82. 95. <ul><li>Life tables published in 1989 showed that more than 50 percent of infants with Down syndrome could be expected to live more than 50 years . </li></ul><ul><li>The study that was carried out in the United States in 2002 , showed an average lifespan of 49 years , with considerable variations between different ethnic and socio-economic groups </li></ul>
  83. 96. <ul><li>As mortality rates for the operative repair of congenital heart defects continue to decrease, survival may increase considerably . </li></ul><ul><li>Since the trend toward deinstitutionalization began in the 1970s, it has become apparent that the maintenance of optimal health is a major factor in the lifelong functioning of persons with Down syndrome. </li></ul><ul><li>Primary health care has become essential to helping these persons have longer, more productive lives. </li></ul>
  84. 97. Thank You ! Dr. Ronald Sanchez - Magbitang
  85. 98. Panglao Island, Bohol
  86. 99. <ul><li>References (Heart disease): </li></ul><ul><li>1. Tubman.,TRJ.,Shields,MD.,Craig,BQ.,Mulholland,HC.,Nevin,NC., (1991) Congenital heart disease in Down's syndrome; Two year prospective early screening study . BMJ; 302 : 1425-1427. </li></ul><ul><li>2. Frid,C.,Drott,P.,Lundell,B.,Rasmussen,F.,Anneren,G. (1999). Mortality in Down’s syndrome in relation to congenital malformations. J.Int.Disab.Res. 43.3. 234-241 </li></ul><ul><li>3. Amark,K.,Sunnegarth,J (1999) The effect of changing attitudes to Down’s syndrome in the management of complete atrioventricular septal defects. Arch.Dis.Ch. 81 . 2. 151-154 </li></ul><ul><li>4. Chi,TP.,Krovetz,LJ., (1975) The pulmonary vascular bed in Down syndrome. Journal of Pediatrics; 86 ;4: 533-538. </li></ul><ul><li>5. Frontera-Izquierdo,P.,Cabezuelo-Huerta,G., (1990) Natural and modified history of atrioventricular canal defect - a 17 year study. Arch Dis. Child., 65 : 964-966. </li></ul><ul><li>6. Souden,P.,Stijns,M.,Tremouroux-Wattiez,M.,Vliers,A. (1975) Precocity of pulmonary vascular obstruction in Down’s syndrome. Eur.J.of Cardiology 2.4. 473-476 </li></ul><ul><li>7. Yamaki,S.,Yasui,H.,Kado,H.,Yonenaga,L et al.(1993) Pulmonary vascular disease and operative indications in complete atrioventricular canal defect. J.Thoracic Cardiovascular Surgery. 106 . 398-405 </li></ul><ul><li>8. Taylor,JFN.,(1990) Commentary : Natural and modified history of atrioventricular canal defect - a 17 year study . Arch Dis. Child., 65 : 966-967. </li></ul><ul><li>9. Committee Report, 1995. Guidelines for optimal medical care of persons with Down syndrome . Acta Paediatrica, 84 : 823-827. </li></ul><ul><li>10. Cullen,S.,Ward,OC.,Duff,D.,Denham,B. (1990.) Congenital heart disease in Down's syndrome : Is there a need for a formal screening programme? Ir.J.Med.SC.; 159 : 168. </li></ul><ul><li>11. Wren,C.,Richmond,S.,Donaldson,L. (1999) Presentation of congenital heart disease in infancy: implications for routine examination. Arch.Dis.Child.Fetal Neonatal Ed. 80 F49- </li></ul><ul><li>12. Chong,ESF.,Dennis,J.,Archer,N.(1998) The effectiveness of screening for congenital F53 heart disease in a 14 year birth cohort of children with Down’s syndrome. Proceedings RCPCH annual spring meeting. Arch Dis Ch. 2 . 63 </li></ul><ul><li>13. Laughlin,GM.,Wynne,J.,Victoria,BE., (1981) Sleep apnea as a possible cause of pulmonary hypertension in Down syndrome . Journal of Pediatrics : 98 ; 3; 435-437. </li></ul><ul><li>14. Goldhaber,SZ.,Brown,WD.,St. John Sutton,MG., (1987). High frequency of mitral valve prolapse and aortic regurgitation among asymptomatic adults with Down syndrome . JAMA : 258 ; 13; 1793-1795 </li></ul><ul><li>15. Hamada T. Gejyo F. Koshino Y et al. (1998) Echocardiographic evaluation of cardiac valvular abnormalities in adults with Down’s syndrome. Tohuko Journal of Experimental Medicine. 185 (1) 31-35 </li></ul><ul><li>Enquiries to: Down’s Syndrome Medical Information Services Children’s Centre, City Hospital Campus, Nottingham NG5 1PB. UK Tel (0)115 962 7658. Ext 45667. (0)115 934 5502 (answerphone). Fax (0)115 962 7915 Email:info@dsmig.org.uk </li></ul>
  87. 100. Sources/References: <ul><li>&quot;Cardiac Aspects&quot; Marino, B. In: Biomedical Concerns in Persons with Down Syndrome. Pueschel, S. & Pueschel, J. (Eds.) (1992). Baltimore, MD: Paul H. Brooks, pp. 91-103. Available through Paul H. Brookes Publishing Co, P.O. Box 10624, Baltimore, MD 21285-0624, tel (800) 638-3775 </li></ul><ul><li>&quot;Cardiorespiratory Problems in Children with Down Syndrome&quot; Kidd, L In: Down Syndrome: Advances in Medical Care. Lott, I, & McCoy, E, (Eds.) (1992) New York, NY: Wiley-Liss, pp. 61-69. Available through Wiley-Liss, 1 Wiley Drive, Somerset, NJ 08875; tel.: (800) 225-5945. </li></ul><ul><li>&quot;Heart Disease and Children with Down Syndrome&quot; Cousineau, A. & Lauer, JL In: Medical & Surgical Care for Children with Down Syndrome: A Guide for Parents. Van Dyke, D., Mattheis, P, Eberly, S. & Williams, J. (Eds.) (1995). Bethesda, MD; Woodbine House, pp 35-63. Available through Woodbine House, 6510 Bells Mill Road, Bethesda, MD 20817; tel.: (800) 843-7323. </li></ul><ul><li>&quot;The Heart&quot; In: Medical Care in Down Syndrome: A Preventive Medicine Approach. Rogers, P & Coleman, M. (1992). New York, NY: Marcel Dekker, Inc., pp. 157-168. Available through Marcel Dekker, Inc., 270 Madison Avenue, 4th Floor, New York, NY 10016; tel.: (212) 696-.9000. </li></ul><ul><li>“ The Heart and Down Syndrome&quot; Kidd, L. & Taussig, Et (1995). New York. NY: National Down Syndrome Society. Available through the National Down Syndrome Society, 666 Broadway, New York, NY 10012; tel.: (800) 221-4602 or (212) 460-9330. </li></ul><ul><li>“ Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions” . Benn PA. Clin Chim Acta. 2002 Oct;324(1-2):1-11. </li></ul><ul><li>“ Down's syndrome screening in pregnancies after assisted reproductive techniques: an update” . Maxmon R. Jauniaux. Reprod Biomed Online. 2002 May-Jun;4(3):285-93. </li></ul><ul><li>“ Sonographic screening for fetal aneuploidy: first trimester” . Souter VL. Nyberg Da. J Ultrasound Med. 2001 Jul;20(7):775-90. </li></ul><ul><li>“ Diagnosis and management of fetal nuchal translucency” . Jackson M. Rose NC. Semin Roentgenol. 1998 Oct;33(4):333-8. Review. </li></ul>
  88. 101. <ul><li>“ Down syndrome, Alzheimer's disease and seizures” . Menendrez M. Brain Dev. 2005 Jun;27(4):246-52. </li></ul><ul><li>“ Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects” . FitzPatrick DR. Trends Genet. 2005 May;21(5):249-53. </li></ul><ul><li>First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Dukes K, Bianchi DW, Rudnicka AR, Hackshaw AK, Lambert-Messerlian G, Wald NJ, D’Alton ME. N Engl J Med. 2005 Nov 10;353(19):2001-2011. </li></ul><ul><li>Chromosomal abnormality rates at amniocentesis and in live-born infants . Hook EB, Cross PK, Schreinemachers DM. JAMA. 1983 Apr 15;249(15):2034-8. </li></ul><ul><li>Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20 000 prenatal studies compared with estimated rates in live births. Schreinemachers DM, Cross PK, Hook EB. Hum Genet. 1982;61(4):318-24. </li></ul><ul><li>Checking your baby's health before birth. State Health Publication Number (PA) 94-090 </li></ul><ul><li>New triple screen test for Down syndrome: combined urine analytes and serum AFP. Bahado-Singh RO, et al.J Matern Fetal Med. 1998 May-Jun;7(3):111-4. </li></ul><ul><li>Screening for Down's syndrome: effects, safety, and cost effectiveness of first and second trimester strategies R E Gilbert, C Augood, R Gupta, A E Ades, S Logan, M Sculpher, J H P van der Meulen, Euan M Wallace, and Sheila Mulvey BMJ 2001; 323: 423 </li></ul><ul><li>Down syndrome, Alzheimer's disease and seizures. Menendrez M. Brain Dev. 2005 Jun;27(4):246-52. &quot;Neuropathologically, Alzheimer-type abnormalities are demonstrated in patients with Down syndrome (DS), both demented and nondemented and more than a half of patients with DS above 50 years develop Alzheimer's disease (AD).&quot; </li></ul><ul><li>Population-based study of congenital heart defects in Down syndrome. Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ, Saker DM Am J Med Genet 1998 Nov 16;80(3):213-7. Department of Genetics, Emory University, Atlanta, Georgia, USA. </li></ul>

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