Down Syndrome - What is it?
Cause
Occurence
How did our Doctor Suspect that our Child has Down Syndrome?
Medical Considerations
Lifestyles
Is Down Syndrome Inherited from the Mother or Father?
Who has the Highest Risk of having a Down Syndrome Child?
Is it Better to Institutionalize or Raise the Child with Down Syndrome at Home?
Factors Affecting the Development of a Child with Down Syndrome
Prospects for a Normal Life

Down Syndrome - What is it?

Down Syndrome is the most common of chromosomal anomalies. Presence of an extra chromosome from either the egg or the sperm gives an infant 47 chromosomes. This results in developmental delay, some unique physical features and an increased chance for some health conditions. You don't outgrow Down syndrome.

Cause

Down syndrome results from a genetic imbalance in cells caused from an extra set of genes on chromosome 21. The narrow region of chromosome 21 responsible for Down syndrome is labeled 21q22. This designation refers to the long arm (q) of chromosome 21 in region 22.

Occurence

• 1 in every 700 births across the populace

• usually 15 babies born every* year in Calgary

• 80% of all babies born with Down syndrome are born to mothers under the age of 35 years, although it is known that the chance increases with maternal age.

How did our Doctor Suspect that our Child has Down Syndrome?

Trisomy for the segment of chromosome 21q22 produces the mental and physical characteristics of Down syndrome. The most common characteristics used for diagnosis of Down syndrome in newborns are:

1. Lack of a Moro reflex - the Moro reflex is a drawing of the arms across the chest in an embracing manner

2. Muscle hypotonia - low muscle tone

3. Flat face - low nasal bridge and small nose

4. Oblique palpebral - eye openings slant upward fissures

5. Brushfield spots - a ring of white dots in the iris of the eye

6. Dysplastic ear - abnormal development of the ear

7. Simian crease - single crease across the center of the palm

8. Hyperflexibility - excessive ability for extending extremities

9. Dysplastic middle phalanx - only one flexion furrow on fifth finger of fifth finger instead of two or, creases close together

10. Epicanthic folds - redundant skin folds on inner corner of eyes

11. Dysplastic pelvis - abnormal development of pelvis (an x-ray finding)

Other characteristics include inevitable developmental delay and smaller than average stature. Children with Down syndrome carry many of his/her family's characteristics (hair colour, etc.). Most of the physical differences used to identify the syndrome are not health-related problems.

Medical Considerations

• about 1/3 of all children with Down syndrome have congenital heart disease

• many are prone to increased respiratory infections

• many experience visual problems, hearing deficits or thyroid dysfunction

• greater frequency to leukemia

• greater susceptibility to Alzheimer's Disease

• life expectancy is about 50 years

Lifestyles

• Today children with Down syndrome live with their families, attend activities with their siblings and lead very normal lives

• Early infant stimulation programs and improved educational opportunities enhance their prospects for the future

• In some centres, children with Down syndrome are successfully integrated into school systems with their peers

• Many people with Down syndrome lead full lives into their 50's and 60' s

Is Down Syndrome Inherited from the Mother or Father?

Down syndrome affects all races and economic levels. Either the father or the mother donated the extra chromosome which causes Down syndrome. Approximately 30% of the cases have been linked to the father. Recent research indicates that, of all trisomy genetic abnormalities, the frequency of the defect being inherited from the father is the highest in trisomy 21, Down syndrome. (Frequency of paternal error is below 10% in other trisomies.)

Recent research also revealed that slightly more males than females are born with Down syndrome in comparison with the general population, with all indications that this ratio holds true in terms of Down syndrome conceptions.

Who has the Highest Risk of having a Down Syndrome Child?

For women over 35, the risk of having a child with Down syndrome significantly increases (age 35: 1 in 350). At age 40 the risk increases to 1 in 100 births having Down syndrome. At age 45 the risk becomes approximately 1 in 25. Since many are postponing parenting until the 4th decade of life, the incidence of Down syndrome is expected to increase.

Therefore, genetic counselling for parents is important; yet many physicians are still do not advise patients about Down syndrome risks, the progress in care and treatment of those born is becoming increasingly fully informed about how advances in diagnosis and with Down syndrome.

Is it Better to Institutionalize or Raise the Child with Down Syndrome at Home?

Of all the genetic disorders associated with mental retardation. Down syndrome has the largest incidence. In Canada, the trend is definitely away from institutionalization, which was the norm just 20 years ago. A greater understanding of Down syndrome and advances in treatment of related health problems have been influencing factors.

Children raised at home can best reach their potential, attain a higher IQ and become able to function in society with a greater degree of independence. Parental love, care and educational support such as early intervention programs working with parents and children, all have a direct relationship to the degree of mental retardation manifested in the child with Down syndrome.

Factors Affecting the Development of a Child with Down Syndrome

We recognize that there is a range of development in children with Down syndrome from severe mental handicap to near normal. Factors influencing this range, in addition to early intervention programs, include the other genes the child inherited from his family, effects of fetal distress or difficult birth, health problems resulting in low oxygen or prolonged hospitalization for health reasons. Also some children with Down syndrome are mosaics. This means they carry some normal cells and some Down syndrome cells in their body. Depending upon the distribution of normal cells, they may go undetected by routine chromosome studies and yet allow the child to achieve a more normal level of development.

Prospects for a Normal Life

Many children with Down syndrome are performing at levels undreamed of in years past. A young man has his driver licence, young people are graduating from high school with vocational diplomas. Many are holding jobs in multinational companies, stores and garages. Some excel in sports, some in music and arts, receiving worldwide acknowledgment of their talents.

Educator Alice Hayden puts it, "this is the generation writing the book".

Education varies in different areas; in some there is mainstreaming and others attend special classes in regular schools. But whichever way the children receive their education, opportunities and expectations are increasing with expanded curriculum. Successful matriculation in the areas of food services, horticulture and the arts is allowing graduates to work competitively in community jobs or sheltered workshops with independent or semi-independent housing.