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Down Syndrome in Malaysia


Also known as trisomy 21. Down's Syndrome in Malaysia ... Trisomy 21. Translocation. Mosaic. 1 : 1.2. 27. Group III (31-35) 9.7. 13. 1. Trisomy 21. Translocation ... – PowerPoint PPT presentation

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Title: Down Syndrome in Malaysia

Down Syndromein Malaysia
  • Prepared by
  • Nabilah Hanis binti Shaari

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

Downs Syndrome in Malaysia
Down Syndrome
  • Named after a physician, John Langdon Down
  • Described as Mongoloid child of European
  • 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
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
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Downs Syndrome in Malaysia
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
  • Parents who are carriers of the genetic
    translocation for Down syndrome

Downs Syndrome in Malaysia
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
General Characteristics
  • Life expectancy 55 years (National Down
    Syndrome Society)
  • Physical appearances
  • flat facial profile and an upward slant to the
  • 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

Downs 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
  • Teeth are often are rounded, pointed or
  • 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
  • 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
  • Neurological problems
  • Epilepsy, severe behavioral problems,
    Alzheimers, memory problems

Downs 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
  • 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
  • Need for antioxidants i.e. vitamin E

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

Downs 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

Downs Syndrome in Malaysia
Correlation of maternal age and chromosomal
aberration in Down Syndrome
Downs Syndrome in Malaysia
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
Comparison of dysmorphic features and physical
abnormalities in Down syndrome
Downs Syndrome in Malaysia
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
  • 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
  • Help parents and create awareness among
  • Access is limited to certain areas

Downs 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

Downs 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

Downs Syndrome in Malaysia
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Downs Syndrome in Malaysia