Childbirth and child rearing
could be a wonderful  stage in one’s life
especially when raising an healthy child. Getting to know one’s child will not
function optimally like his or her peers due to genetic disorder could be
devastating. One of the most common genetic disorders is Down syndrome.

It is  also known as trisomy 21, is a genetic
disorder caused by the presence of all or part of a third copy of chromosome
21.It is named after John Langdon Down, a British Doctor who fully described
the syndrome in 1866. It is typically associated with growth delays,
characteristic facial features and mild to moderate intellectual disability.
Down syndrome is one of the most common chromosome abnormalities in humans. It
occurs in about one per 1000 babies born each year.

The average IQ(intelligent
quotient) of a young adult  with Down
Syndrome is 50, equivalent to the mental ability of an 8 or 9 year old child
but this can vary widely.  The parents of
the individual are genetically normal, it occurs by chance. The possibility
occurs in 0.1% of mothers aged 20 and about 3% in mothers aged 45. There is no
known behavioral or environmental factor that contributes to the possibility.

Down syndrome can be identified
during pregnancy by prenatal screening followed by diagnostic screening or
after birth by direct observation and genetic testing. There is no cure for
down syndrome, education and proper acre have been shown to improve quality of
life.

WHAT CAN BE SEEN IN CHILDREN WITH DOWN SYNDROME?

PHYSICAL: Children with down syndrome may have some or all of these
physical characteristics

*small chin

*slanted eyes

*a flat and wide face

*a short neck

*excessive joint flexibility

*extra space between big toe and
second toe

*a single crease on the palm

*a protruding tongue due to a
relatively small mouth

NEUROLOGICAL/PSCHOLOGICAL: most individuals with down syndrome have
mild IQ (50-69),or moderate IQ(35-50), these ones are intellectually disabled.
The severe ones have IQ (20-35). As they age people with down syndrome
typically perform less than their same-age peer group . Some may lose their
ability to speak after 30 years of age.

*Stutter, rapid and irregular
speech is common.

*Autism in children.

*Depression and anxiety are seen
in early adulthood.

*Increased risk of epileptic
seizure (infantile spasms)

 *Alzheimer’ s disease in those who live above
40 years.

SENSES: Hearing and vision disorders are commonly seen in people
with Down syndrome.

*Strabismus (the two eyes do not
move together)

*Cataracts (cloudiness of the lens of the eyes)

*Ketaroconus (a thin shaped
cornea)

*Glaucoma (increased eye
pressure)

*Refractive errors.

Hearing problems are secondary to
chronic ear infection

Age related hearing loss is also
common.

HEART: congenital heart problems are markedly seen in children with
down syndrome. Valve defects are seen as they progress in age.

CANCER: Cancers of the blood are 10 to 15 times more common in
children with down syndrome.

ENDOCRINE: Low thyroid is commonly seen in individuals with down
syndrome usually starting as a form of congenital hypothyroidism.

GASTROINTESTINAL: This may lead to changes in behavior

*Constipation occurs commonly.

*Pyloric Stenosis (a condition
which the opening between the stomach and small intestine thickens)

*Meckel’s diverticulum (a bulge
in the lower abdomen)

 *Gastro-esophageal reflux is also common.

TEETH: Individuals with down syndrome are more susceptible to:

 * Gingivitis

*Early tooth loss especially in
the lower front teeth

*The weakened immune system also
contributes to the growth of yeast infections in the mouth (candida albicans)

FERTILITY:

Males with Down syndrome usually
do not reproduce due to problems with sperm development.

Females have low fertility rate
relative to those who are affected. Menopause occurs in early age.

SCREENING.

Screening should be recommended
for pregnant women irrespective of their age. A varying number of tests are
done and mostly done in combination to detect the presence of Down syndrome.
However, amniocentesis and chorionic villi sampling can be done to confirm if
positive. These investigations are best done in first and second trimesters.

MANAGEMENT.

  • Early childhood intervention such as screening
    for common problems then seek medical treatment where indicated.
  • At birth, all children should get an
    electrocardiogram or ultrasound of the heart.
  • Surgical repair of heart problems may be
    required as early as three months.
  • A good family environment.
  • A work-related training can help an individual
    with Down syndrome.
  • Education and proper care can improve quality of
    life.
  • Typical childhood vaccinations are recommended.

COGNITIVE DEVELOPMENT.

  • Hearing aids or amplifying devices may be
    required in individuals with hearing defect.
  • Speech therapy may be recommended in children
    usually starting from 9 months of age.
  • An inclusive school is recommended to educate an
    individual with Down syndrome. i. e a school that comprises of pupils of
    different disabilities where peers of the same age are placed in the same
    class.