down syndrom in malaysia
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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
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
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
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
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 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)
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
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
Down’s Syndrome in Malaysia
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
Down’s Syndrome in Malaysia
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
Down’s Syndrome in Malaysia
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
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