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.