down syndrom in malaysia

Down Syndromein 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


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

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 Syndrome & Maternal Age


Age Incidence of Down Syndrome

< 30

30

35

36

37

38

39

40

42

44

46

48

49

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

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.

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

• 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


– 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 Syndrome in MalaysiaBased 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)


• 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


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


Correlation of maternal age and chromosomal aberration in Down Syndrome


Maternal age (years)

n = 144 Ratio (male :female)

Cytogenetic profile

No. of cases Total percentage (%)

Group I

(≤ 25)

8 1 : 7 Trisomy 21

Translocation

Mosaic

8

-

-

5.6

Group II

(26-30)

14 1.3 : 1 Trisomy 21

Translocation

Mosaic

13

1

-

9.7

Group III

(31-35)

27 1 : 1.2 Trisomy 21

Translocation

Mosaic

24

-

3

18.8

Group IV

(36-40)

43 1 : 1 Trisomy 21

Translocation

Mosaic

42

-

1

29.9

Group V

(> 40)

52 1 : 1.1 Trisomy 21

Translocation

Mosaic

50

-

2

36.1

Frequencies of different karyotypes among the studied Down syndrome cases and pooled data from worldwide surveys


Source Total no. Regular trisomy

Translocation

Mosaic Non-classical

No. % No. % No. % No. %

Malaysia

Scotland

France

Egypt

England and Wales

Belgium

149

153

391

673

5737

88

141

144

368

642

5411

81

94.6

94.1

94.1

95.4

94.3

92.1

1

2

14

18

220

6

0.7

1.3

3.6

2.7

3.8

6.8

7

7

9

5

66

1

4.7

4.6

2.3

0.7

1.2

1.1

-

-

-

8

40

-

-

-

-

1.2

0.7

-

- Mosaicism is higher than translocation – no specific reason

- Regular trisomy –common is maternal non-disjunction during 1st meiotic division

Comparison of dysmorphic features and physical abnormalities in Down syndrome


Dysmorphic features Current study

(%)

Kava et al (%)

Kumar et al (%)

Jones (%)

Fryns (%)

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

89.3

64.9

56.1

52.6

36.8

33.3

33.3

24.5

19.2

19.2

17.5

12.2

83.9

50.9

66.9

76.3

33.2

46.2

33.9

-

29.936.1

56.9

36.8

-

-

-

80

40

-

-

-

-

50

60

-

80

90

60

80

45

-

-

-

-

50

-

80

80

90

50

21-77

48

45

-

-

-

62

40

81/85

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

• 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


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


• 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


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


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.kiwanis.org.my/

http://www.nlm.nih.gov/medlineplus/downsyndrome.html#cat11

http://www.pccnaturalmarkets.com/health/Concern/Downs_Syndrome.htm

down syndrom in malaysia

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