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Down syndrom in Malaysia
 

Down syndrom in Malaysia

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    Down syndrom in Malaysia Down syndrom in Malaysia Presentation Transcript

    • Down Syndrome in Malaysia Prepared by Nabilah Hanis binti Shaari
    • Our focus
      • A brief introduction to Down’s Syndrome
      • Down’s Syndrome in Malaysia and my thoughts on it
      Down’s Syndrome in Malaysia
    • 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
      • http://www.mayoclinic.com/print/down-syndrome/DS00182/DSECTION=all&METHOD=print
      Down’s Syndrome in Malaysia 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
    • 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
    • Down Syndrome & Maternal Age Down’s Syndrome in Malaysia Source: Hook, E.G., Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age. A study done in Mysore, India - paternal age and maternal grandmother’s age influences Down Syndrome in neonates. Less than 1 in 1000 1 in 900 1 in 400 1 in 300 1 in 230 1 in 180 1 in 135 1 in 105 1 in 60 1 in 35 1 in 20 1 in 16 1 in 12 < 30 30 35 36 37 38 39 40 42 44 46 48 49 Incidence of Down Syndrome Age
    • 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
      • 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
      • 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
        • 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
      Down’s Syndrome in Malaysia
      • 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 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
      • 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
    • 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
    • Correlation of maternal age and chromosomal aberration in Down Syndrome Down’s Syndrome in Malaysia 36.1 50 - 2 Trisomy 21 Translocation Mosaic 1 : 1.1 52 Group V (> 40) 29.9 42 - 1 Trisomy 21 Translocation Mosaic 1 : 1 43 Group IV (36-40) 18.8 24 - 3 Trisomy 21 Translocation Mosaic 1 : 1.2 27 Group III (31-35) 9.7 13 1 - Trisomy 21 Translocation Mosaic 1.3 : 1 14 Group II (26-30) 5.6 8 - - Trisomy 21 Translocation Mosaic 1 : 7 8 Group I ( ≤ 25) Total percentage (%) No. of cases Cytogenetic profile Ratio (male :female) n = 144 Maternal age (years)
    • Frequencies of different karyotypes among the studied Down syndrome cases and pooled data from worldwide surveys Down’s Syndrome in Malaysia
      • Mosaicism is higher than translocation – no specific reason
      • Regular trisomy –common is maternal non-disjunction during 1 st meiotic division
      - - - 1.2 0.7 - - - - 8 40 - 4.7 4.6 2.3 0.7 1.2 1.1 7 7 9 5 66 1 0.7 1.3 3.6 2.7 3.8 6.8 1 2 14 18 220 6 94.6 94.1 94.1 95.4 94.3 92.1 141 144 368 642 5411 81 149 153 391 673 5737 88 Malaysia Scotland France Egypt England and Wales Belgium % No. % No. % No. % No. Non-classical Mosaic Translocation Regular trisomy Total no. Source
    • Comparison of dysmorphic features and physical abnormalities in Down syndrome Down’s Syndrome in Malaysia 80 90 50 21-77 48 45 - - - 62 40 81/85 80 90 60 80 45 - - - - 50 - 80 - - - 80 40 - - - - 50 60 - 83.9 50.9 66.9 76.3 33.2 46.2 33.9 - 29.9 36.1 56.9 36.8 89.3 64.9 56.1 52.6 36.8 33.3 33.3 24.5 19.2 19.2 17.5 12.2 Upslanting palpebral fissures Flat facial profile Ears abnormality Hypotonia Simian crease Sandle sign Hypertelorism Short stubby fingers Protruding tongue Clinodactyly Epicanthic folds Excessive skin fold on neck Fryns (%) Jones (%) Kumar et al (%) Kava et al (%) Current study (%) Dysmorphic features
    • 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
      Down’s Syndrome in Malaysia 21 st March – World Down Syndrome Day
      • 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
    • 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
      • 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
    • 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