299

A. Medical problems
Newborn
cardiac defects (50% ): AVSD [most common], VSD, ASD, TOF or PDA
gastrointestnal (12%): duodenal atresia [commonest], tracheo-oesophageal
fstula, anorectal malformaton, pyloric stenosis and Hirshsprung disease.
vision: congenital cataracts (3%), glaucoma.
hypotonia & joint laxity
feeding problems. Usually
resolve afer a few weeks.
congenital hypothyroidism (1%)
congenital dislocaton of the hips
Infancy and Childhood
delayed developmental milestones
mild to moderate intellectual
impairment (IQ 25 to 50)
seizure disorder (6%)
recurrent respiratory infectons
hearing loss (>60%) due to secretory
otts media, sensorineural deafness,
or both
visual Impairment squint (50%), cataract (3%), nystagmus (35%), glaucoma,
refractve errors (70%)
sleep related upper airway obstructon. Ofen multfactorial.
leukaemia (relatve risk:15 to 20 tmes). Incidence 1%
atlantoaxial instability. Symptoms of spinal cord compression include neck pain,
change in gait, unusual posturing of the head and neck (tortcollis), loss of up
per body strength, abnormal neurological refexes, and change in bowel/bladder
functoning. (see below)
hypothyroidism (10%). Prevalence increases with age
short stature congenital heart disease, sleep related upper airway obstructon,
coeliac disease, nutritonal inadequacy due to feeding problems and thyroid
hormone defciency may contribute to this
over/underweight
Adolescence and Adulthood
puberty - in Girls menarche is only slightly delayed. Fertlity presumed
- in Boys are usually infertle due to low testosterone levels
increased risk of dementa /Alzheimer disease in adult life
shorter life expectancy
Management
communicatng the diagnosis is preferably handled in private by a senior
medical ofcer or specialist who is familiar with the natural history, genetc aspect
and management of Down syndrome.
careful examinaton to look for associated complicatons.
investgatons: 1. echocardiogram by 2 weeks (if clinical examinaton or ECG were
abnormal) or 6 weeks. 2. Chromosomal analysis. 3. T4 /TSH at birth or by 1-2
weeks of life.
DOWN SYNDROME
Table 1. Incidence of Down syndrome
Age (years)
20
30
35
40
41
42
43
44
45
Incidence
1 in1500
1 in 900
1 in 350
1 in 100
1 in 70
1 in 55
1 in 40
1 in 30
1 in 25
Overall Incidence: 1 in 800-1000 newborns
Maternal Age-Specifc Risk for Trisomy 21 at livebirth
Source Hecht and Hook 94
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early interventon programme should begin at diagnosis if health conditons permit
assess strength & needs of family. Contact with local parent support group should
be provided (Refer list of websites below)
health surveillance & monitoring: see Table 5
Atlantoaxial instability
seen in X rays in 14% of patents; symptomatc in 1-2%.
small risk for major neurological damage but cervical spine X rays in children
have no predictve validity for subsequent acute dislocaton/ subluxaton at
the atlantoaxial joint
children with Downs syndrome should not be barred from taking part in
sportng actvites
appropriate care of the neck while under general anaesthesia or afer road
trafc accident is advisable
Useful websites
The Down Syndrome Medical Interest Group (UK): www.dsmig.org.uk
Down Syndrome: Health Issues: www.ds-health.com
Growth charts for children with Down Syndrome: www.growthcharts.com
Educatonal issues: www.downsed.org
Kiwanis Down Syndrome Foundaton: www.kdsf.netmyne.com
Educatonal & support centre. htp://www.disabilitymalaysia.com/
Parents support group. htp://groups.yahoo.com/group/DownSyndromeMalaysia
Jabatan Pendidikan Khas. htp://www.moe.gov.my/jpkhas/.
Jabatan Kebajikan Malaysia. htp://www.jkm.gov.my/
Table 2. Karyotyping in Down syndrome
Non-disjuncton trisomy 21
Robertsonian Translocaton
Mosaicism
95%
3%
2%
Recurrence Risk by Karyotype
Nondisjuncton Trisomy
47(XX or XY) + 21
Translocaton
both parents normal
other carrier
father carrier
either parent t(21q;21q)
Mosaics
1%
low; <1%
10%
2.5%
100%
< 1%
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