Frequently Asked Questions about Down syndrome

Did you know that Down syndrome is sometimes referred to as Trisomy 21? Find the answer to that and other frequently asked questions about Down syndrome right here on Discount Medical Supplies.

Frequently Asked Questions about Down syndrome

1.       What is Down syndrome?

This is a genetic condition in which a child is born with an extra chromosome. This can have both physical – such as distinct facial features – and mental effects on the person.

2.       How common is Down syndrome?

This is the most common chromosomal disorder diagnosed in the U.S. Approximately 6,000 American babies are born with Down syndrome every year (about 1 in 700 live births).

3.       What are the symptoms of Down syndrome?

  • Flattened facial appearance, in particular the bridge of the nose.
  • Small head.
  • Short neck.
  • A tongue that protrudes from the mouth.
  • Almond-shaped, upward slanting eyes, unusual for the child's ethnicity.
  • Unusually shaped or small ears.
  • Poor muscle tone.
  • Loose, flexible joints.
  • Broad, short hands with a single crease in the palm.
  • Relatively short fingers and small hands and feet.
  • Small pinky fingers that may curve toward the thumb.
  • Tiny white spots on the colored part of the eye called Brushfield spots.
  • Short height.

4.       How does Down syndrome intellectually affect a child?

Most children with this condition are mildly to moderately impaired, intelligence-wise. They are capable of learning and developing skills but do so at a slower rate. For example, they may sit up, crawl, walk – as well as reach other developmental milestones – later than most children.

5.       What causes Down syndrome?

Healthy humans have 46 chromosomes – half from the father and half from the mother, forming 23 pairs. Children with Down syndrome have an extra copy of chromosome 21 (for a total of 47), which is the one the causes the physical features and developmental issues that characterize this disorder.

6.       Which are the types of Down syndrome?

·         Trisomy 21. This is the most common type, accounting for 95% of all cases. In Trisomy 21 the person is born with 3 copies of chromosome 21 in each and every cell – an extra copy in addition to the normal pair.

·         Mosaic Down syndrome. This is a very rare type (1% of cases) in which there is ‘mosaic’ of normal cells and cells with the extra chromosome.

·         Translocation Down syndrome. This occurs in 4% of cases when part of chromosome becomes embedded – or Brundled, if you will – into another chromosome prior to or following conception.  

7.       Is Down syndrome inherited?

Translocation Down syndrome is the only type that can be inherited from parent to child, but only 4% of children have that form of the condition. More often than not, Down syndrome is a result of abnormal cell division during the development of the egg, sperm or embryo.

8.       What are the risk factors for Down syndrome?

·         Advanced maternal age. Starting at age 35 and on women’s risk of having a child with Down syndrome increase, though actually women under the age of 35 are more likely to have children with this disorder because they have more babies.

-        At age 25, the likelihood is 1/1,300.

-        At age 30, the likelihood is 1/900.

-        At age 35, the likelihood is 1/350.

-        At age 42, the likelihood is 1/55.

-        At age 49, the likelihood is 1/25.

·         Having already had a child with Down syndrome.

·         Carrying the genetic translocation for Down syndrome.

9.       What are some possible complications of Down syndrome?

·         Heart defects.

·         Leukemia.

·         Infectious diseases.

·         Dementia.

·         Sleep apnea.

·         Obesity.

·         Gastrointestinal blockage.

·         Thyroid problems.

·         Early menopause.

·         Seizures.

·         Ear infections.

·         Hearing loss.

·         Skin problems.

·         Skeletal problems.

·         Poor vision.

·         Hip dislocation.

·         Anemia.

·         Iron deficiency.

·         Hirschsprung disease.

·         Problems with the upper part of the spine.

·         Gum disease and other dental problems.

·         Celiac disease.

10.   How is Down syndrome diagnosed?

This condition may be diagnosed with screening tests during pregnancy, as well as with diagnostic tests both during pregnancy and in newborns. However, the severity of Down syndrome cannot be predicted with either screening or diagnostic tests. The American College of Obstetrics and Gynecology recommends that all pregnant women be offered screening with the option for invasive diagnostic testing for Down syndrome, regardless of age.

11.   How is Down syndrome treated?

This disorder is best managed with early interventions as delivered by a care team comprising such pediatric specialists as:

  • Pediatricians.
  • Pediatric cardiologists.
  • Pediatric gastroenterologists.
  • Pediatric endocrinologists.
  • Developmental pediatricians.
  • Pediatric neurologists.
  • Pediatric ear, nose and throat (ENT) specialists.
  • Ophthalmologists.
  • Audiologists.
  • Physical therapists.
  • Speech pathologists.
  • Occupational therapists.

Many states offer free early intervention services to children with disabilities from birth to age 3. Once a child is 3 years old, the Individuals with Disabilities Education Act (IDEA) guarantees him or her educational services. Under IDEA, local school districts must offer “a free appropriate education in the least restrictive environment,” as well as an individualized education program (IEP) for each child.

12.   How can a family cope with Down syndrome?

·         Joining support groups with parents who are going through a similar situation.

·         Remaining optimistic; many children with Down syndrome grow up to become productive members of society – as exemplified by Corky from Life Goes On.

13.   Can Down syndrome be prevented?

No. a genetic counselor can help someone with high risk of having a child with this condition understand prenatal tests and the pros and cons of testing.

14.   Is there a cure for Down syndrome?

No. this is a lifelong disorder.


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