Does Your Child Have Down Syndrome? What Is Down Syndrome?

Down Syndrome is a genetic disorder in which one has an extra chromosome that causes developmental as well as intellectual delays. Every normal individual has 46 chromosomes. A chromosome comprises of genetic material that determines how a baby’s body is formed during pregnancy & how the body grows & functions during pregnancy and after birth. Down Syndrome occurs when there is an abnormal cell division that results in an additional partial or full copy of the 21st chromosome which can originate from either parent. This extra genetic material from chromosome 21 is responsible for the distinctive facial appearance, intellectual disability and developmental delays.

Trisomy 21- This is where there is an extra copy of chromosome 21. This is the most common type (approximately 95% of Down’s).

Translocation Down Syndrom- This accounts for approximately 3% of the Down Syndrome population & is usually when an extra part or whole extra chromosome is present but attached to a different chromosome.

Mosaic Down Syndrome- This is the most infrequent type which accounts for only 2%. As the name suggests there is a mixture or combination, meaning some cells have 3 copies of chromosome 21 whereas others have 2 copies. For this reason, children with this type of Down’s may have fewer features of the condition.

Mostly, this isn’t an inherited condition it is caused by a mistake in cell division during the early stages of fetal development. However, Translocation Down Syndrome can be inherited. Some of the known risk factors that contribute to this condition include advancing maternal age because older eggs have a higher risk of faulty chromosome division. The risk of conceiving a baby with Down’s increases after the age of 35 years. Both men & women who are carriers of the genetic translocation for Down’s can pass it on to their children. If a parent had one child with Down’s then they are at increased risk of having another child with Down’s.

Mild to moderate IQ depending on the condition

Slower to speak than a child with normal intelligence

Flattened bridge of the nose/flat face

Eyes are almond-shaped and slanted upwards

Short neck

Small Ears, hands & feet

Single crease or line across the palm (palmar crease)

A protruding tongue (sticks out of the mouth)

Poor muscle tone

Short height

Congenital Heart Defects- Half the children born with Down’s have some form of congenital heart defect that requires correctional surgery in early infancy.

Gastrointestinal Defects- These include defects anywhere from the oesophagus to the anus. These are responsible for digestive problems such as heartburn, or celiac disease etc.

Immune System Disorders- Children with Down’s are at an increased risk of developing AI (autoimmune) disorders, some types of cancers such as Leukaemia (a type of blood cancer), and infections (e.g. Pneumonia).

Sleep Apnoea- With a protruding tongue and other skeletal defects, these children can have obstruction of their airways thus they are at a greater risk of developing obstructive sleep apnoea.

Obesity- They tend to put on weight and end up with obesity.

Problems With The Spine- They are at increased risk due to skeletal defects.

Diagnosis is possible with 2 tests (Screening & Diagnostic Tests) that detect can detect Down’s during pregnancy.

Screening Tests include blood tests where maternal blood is screened and an ultrasound.
Diagnostics Tests are of 3 types that look for the changes in chromosomes that would indicate Down’s:
CVS (Chorionic villus sampling) where the placenta is checked, Amniocentesis where the amniotic fluid is checked
& PUBS (Percutaneous umbilical blood sampling)- where the blood from the umbilical cord is checked.

How To Manage A Child With Down Syndrome?

Management requires a multidisciplinary approach and early intervention. Therapists such as speech, occupational, physical as well as special educators are needed to help manage a child with Down’s to help them develop & perform to their full potential. Remember that even though these children may also require extra help in school, many may be included in regular classes.