Down syndrome guide
Simplified scientific information to help you
What is Down syndrome?
The scientific name for Down syndrome is trisomy 21, and it was named for this reason because the type of chromosomal defect occurs on pair No. 21, where a third chromosome increases in pair No. 21, and it is called trisomy 21 (trisomy means chromosome).
How does it happen?
It occurs if there is a defect in the fetus’s genetic genes during pregnancy. This defect is due to three main reasons that result in three types of Down syndrome: Complete trisomy is when an additional complete copy of chromosome 21 is formed. Instead of having 46 chromosomes, the cells divide, either the egg or the sperm, and a sperm containing 47 chromosomes is formed. Partial trisomy is when the genetic material of chromosome 21 is partially increased and attached to another chromosome. This often occurs during the moment of fertilization or shortly before it. Mosaic trisomy is a rare condition that occurs when an increase in chromosomal material is formed after conjugation and initial division, so some cells have one-third of chromosome 21 and the other is healthy.
How is the diagnosis made: It is diagnosed with a blood test, where a sample of the newborn’s blood is taken.
What are the abilities of children with trisomy?
People with trisomy 21 are distinguished by their high social intelligence in relation to their ability to think abstractly, and by a relatively strong visual memory that enables them to learn and communicate if this ability is exploited, as it enables people with trisomy 21 to have a large degree of the ability to read, communicate, and remember information.
Frequently asked questions about Down syndrome
Is Down Syndrome Mongolian?
Yes, people used to call individuals with Down syndrome “Mongoloid” or “Mongoloid idiot,” but this term is offensive and unscientific. The scientific name is Trisomy 21.
Are people with trisomy 21 mentally retarded?
They have a genetic condition caused by an extra chromosome, which may result in limitations in certain abilities. Therefore, we should avoid using the term “mental retardation” and instead use “intellectual disability” or “limitations in cognitive abilities.” The degree of these limitations varies from one individual to another. It is important not to define or label a child based solely on the extent of their intellectual abilities.
Will my child be normal, talk and walk?
Yes. Your child will walk, communicate, and grow at their own pace and according to their individual readiness. However, it is not possible to predict exactly when each developmental milestone will be achieved.
Will he be able to attend regular schools like the rest of his siblings?
Reading and writing skills depend greatly on several foundational abilities, including memory, advanced visual discrimination, and visual-motor coordination. An appropriate special education program relies on intensive training tailored to the child’s individual abilities, helping them develop a good range of vocabulary and symbolic skills.
Individual differences in abilities are one of the most important characteristics shared by children. Every child has their own strengths and areas that require support, just like all other children.
It is important to understand that reading and writing are skills that require different abilities. Signs of academic potential generally become clearer as the child reaches around 8–9 years of age.
If we want children to benefit from their individual skills and abilities, we should provide them with every opportunity and appropriate training without imposing artificial limitations or labels. They can achieve their full potential and may go on to become, for example, a restaurant owner, a library employee, or a teacher.
When my child grows up, will his external appearance be different? Will he look like he has Down Syndrome?
In most cases, yes.
Do they study at university?
Yes, if the individual has the appropriate academic abilities and support needed to pursue higher education.
Do they get married and have children?
An individual may get married if they have achieved an appropriate level of independence and the necessary life skills to support married life. They may also have the ability to have children. However, fertility and reproductive health require an individualized medical assessment, so there is no general answer that applies to everyone.
As my child grows older, will he rely on himself for self-care skills or will he always depend on me and need me?
Around 90% of people with Down syndrome are able to achieve a high level of independence in managing their daily living needs.
Can he work and depend on himself?
Yes. You can learn more by visiting our “What About the Future?” page.
Do they recognize sources of danger and understand or fear them so as not to repeat them?
Yes.
Is it important for me to know my child’s IQ?
No.