Down Syndrome in Malaysia

1
Down Syndromein Malaysia

• Prepared by
• Nabilah Hanis binti Shaari

2
Our focus

• A brief introduction to Downs Syndrome
• Downs Syndrome in Malaysia and my thoughts on it

Downs 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

Downs Syndrome in Malaysia
4
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

• http//www.mayoclinic.com/print/down-syndr
  ome/DS00182/DSECTIONallMETHODprint

Downs 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

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

Downs 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

Downs 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,
  Hirschprungs disease
• Haematological problems
• Acute leukemia, transient myeproliferative
  disease
• Neurological problems
• Epilepsy, severe behavioral problems,
  Alzheimers, memory problems

Downs 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
  Alzheimers disease
• - Physical activities are strongly recommended
• Some has lack of vitamin B12, folic acid and
  zinc
• Need for antioxidants i.e. vitamin E

Downs 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)

Downs 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

Downs 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

Downs Syndrome in Malaysia
14
Correlation of maternal age and chromosomal
aberration in Down Syndrome
Downs 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

Downs Syndrome in Malaysia
16
Comparison of dysmorphic features and physical
abnormalities in Down syndrome
Downs 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
• Peoples 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
Downs 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

Downs 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

Downs 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

Downs Syndrome in Malaysia
21
Sources

• http//smj.sma.org.sg/4806/4806a10.pdf
• http//www.down-syndrome.org
• http//www.marchofdimes.com/professionals/14332_12
  14.asp
• http//www.kiwanis.org.my
• http//www.nlm.nih.gov/medlineplus/downsyndrome.ht
  mlcat11
• http//www.pccnaturalmarkets.com/health/Concern/Do
  wns_Syndrome.htm

Downs Syndrome in Malaysia