Down Syndrome in Malaysia

1. Down Syndromein Malaysia Prepared by Nabilah Hanis binti Shaari

2. Our focus • A brief introduction to Down’s Syndrome • Down’s Syndrome in Malaysia and my thoughts on it Down’s Syndrome in Malaysia

3. Down Syndrome • Named after a physician, John Langdon Down • Described as Mongoloid child of European parentage • 1 in 800 births; the most occurred genetic disease in the world population; in all countries, all races • Also known as trisomy 21 Down’s Syndrome in Malaysia

4. http://www.mayoclinic.com/print/down-syndrome/DS00182/DSECTION=all&METHOD=print 92% -94% Trisomy 21- nondisjunction during fertilisation 2-4% Mosaicism- error in cell division after fertilisation 3-4% Translocation of chromosome 21- breaking and attaching to other chromosomes (14) during cell division- parents may be a balanced carriers -88% from mother, 8% from father and 4% mitotic errors Down’s Syndrome in Malaysia

5. Risk factors • Advancing maternal age – usually women of age 35 and above • Mothers who already have one child with Down syndrome – increased risk for subsequent pregnancies • Parents who are carriers of the genetic translocation for Down syndrome Down’s Syndrome in Malaysia

6. Down Syndrome & Maternal Age A study done in Mysore, India - paternal age and maternal grandmother’s age influences Down Syndrome in neonates. Source: Hook, E.G., Lindsjo, A. Down Syndrome inLive Births by Single Year Maternal Age. Down’s Syndrome in Malaysia

7. General Characteristics • Life expectancy : 55 years (National Down Syndrome Society) • Physical appearances • flat facial profile and an upward slant to the eye • short neck • abnormally shaped ears • white spots on the iris of the eye (called Brushfield spots) • single, deep transverse crease on the palm of the hand. Down’s Syndrome in Malaysia

8. In stomatology, • relatively late development of deciduous and permanent teeth as compared with other children • Teeth could appear in a different sequence and positions • Teeth are often are rounded, pointed or cone-shaped. • Teeth are often smaller and therefore there could be gaps in between them. • Fewer teeth. • Maxilla is narrow, the tongue appears too big for the mouth and the teeth may be pushed out of place, as the child grows older. • Habit of breathing through the mouth - dry mouth with increased chances of dry lips, fungal infections, ulcers, and gum problems • Mental retardation varied from mild to moderate – some even have special abilities after training and early interventions Down’s Syndrome in Malaysia

9. Health-related problems • Cardiovascular problems • ventricular spetal defect, atrial septal defect, patent ductus arteriosus • Endocrine problems • thyroid problems, diabetes mellitus • Gastrointestinal problems • duodenal, esophageal and anal atresia, Hirschprung’s disease • Haematological problems • Acute leukemia, transient myeproliferative disease • Neurological problems • Epilepsy, severe behavioral problems, Alzheimer’s, memory problems Down’s Syndrome in Malaysia

10. Sleep problems • Sleep apnoea, other sleep disturbance • Skeletal problems • Flat foot, atlantoaxial subluxation • Visual problems • Refractive disorder, squint, nystagmus • Hearing problems • Hearing loss, conductive hearing loss, chronic otitis media • Obesity and nutrient deficiency - Malabsorption (probably linked with celiac disease) due to intestinal damage leads to cardiovascular and Alzheimer’s disease • - Physical activities are strongly recommended • Some has lack of vitamin B12, folic acid and zinc • Need for antioxidants i.e. vitamin E Down’s Syndrome in Malaysia

11. Down Syndrome in Malaysia Based on recent study – Cytogenetic and clinical profile of Down syndrome in Northeast Malaysia carried out by Human Genome Centre and Genetic Clinic in Universiti Sains Malaysia (Singapore Med J 2007 June; 48(6):550-554) Down’s Syndrome in Malaysia

12. In an earlier report published in 1989, incidence of Down syndrome in Malaysia is 1 in 950 • Incidence classified into 3 major ethnics in Malaysia • Malay - 1 in 981 • Chinese - 1 in 940 • Indians 1 - in 860 Down’s Syndrome in Malaysia

13. Increase in prevalence is expected, because : • Current trend : Women tend to delay having first babies because of career, gap between children in family planning – sosioeconomics • However, awareness among women increases because women are more educated nowadays Down’s Syndrome in Malaysia

14. Correlation of maternal age and chromosomal aberration in Down Syndrome Down’s Syndrome in Malaysia

15. Frequencies of different karyotypes among the studied Down syndrome cases and pooled data from worldwide surveys • Mosaicism is higher than translocation – no specific reason • Regular trisomy –common is maternal non-disjunction during 1st meiotic division Down’s Syndrome in Malaysia

16. Comparison of dysmorphic features and physical abnormalities in Down syndrome Down’s Syndrome in Malaysia

17. Malaysian society & Down Syndrome • Late interventions – less women underwent antenatal screening and births outside hospitals • Too protective family – too dependent due to lack of resources • People’s perception on mental retardation – less opportunities to go out and work • No special education for them • May be trained in skilled works or figure out their talents in other fields, e.g musics 21st March – World Down Syndrome Day Down’s Syndrome in Malaysia

18. However, associations and resources centres are set up to help patients and their parents e.g. Kiwanis (1988) and • Improve patients’ social quotients, gross and fine motor skills, language and personal development • Help parents and create awareness among Malaysians • Access is limited to certain areas Down’s Syndrome in Malaysia

19. As a future health professional, what can I do? • Create awareness in Malaysian society - outreach – acceptance and support • Early interventions to patients and their family – genetic counseling and provide resources • Research on cytogenetics, clinical profile and other related medical issues – to improve their life quality Down’s Syndrome in Malaysia

20. Educate Malaysian women to go for screening during pregnancies • Nuchal translucency • Blood test – measure serum alpha feto-protein (MSAFP), chorionic gonadotropin (hCG), and unconjugated estriol (uE3) • Further diagnostic tests – amniocentesis, chorionic villus sampling Down’s Syndrome in Malaysia

21. Sources • http://smj.sma.org.sg/4806/4806a10.pdf • http://www.down-syndrome.org • http://www.marchofdimes.com/professionals/14332_1214.asp • http://www.kiwanis.org.my • http://www.nlm.nih.gov/medlineplus/downsyndrome.html#cat11 • http://www.pccnaturalmarkets.com/health/Concern/Downs_Syndrome.htm Down’s Syndrome in Malaysia