DOWN SYNDROME

 Mety Tri Nurnuzulawati, S.Psi., M.Psi., Psikolog

OVERVIEW

Down syndrome is a genetic disorder caused by the presence of all or a portion of a third chromosome. It affects different systems in the body and can cause a wide range of signs and symptoms, including intellectual and developmental disabilities, neurological features, congenital heart defects, gastrointestinal abnormalities, characteristic facial features, and abnormalities. Down syndrome is associated with a number of phenotypes, including congenital heart defects, leukemia, Alzheimer's disease, and Hirschsprung disease.

People with Down syndrome may have different problems at different times of their lives, and their development is often delayed. They usually have mild to moderate intellectual disabilities. Some of the common physical signs of Down syndrome include a flat face, eyes that slant up, a short neck, small hands and feet, poor muscle tone, and loose joints. There are many health issues associated with Down syndrome, including hearing loss, obstructive sleep apnea, ear infections, eye diseases, and heart defects present at birth. Health care providers routinely monitor children with Down syndrome for these conditions. With engagement and regular therapy, most people with Down syndrome can attend school and become active members of the community.

Factors that affect Down syndrome include:

1. Nondisjunction: Down syndrome is usually caused by an error in cell division called "nondisjunction". Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two copies. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.

2. Maternal age: One factor that increases the risk of having a baby with Down syndrome is the age of the mother. Women ages 35 and older are more likely to have a baby with Down syndrome.

3. Genetic translocation: In a small percentage of cases (less than 5%), a parent who does not have Down syndrome may carry a translocation in chromosome 21 that can be passed on to children and cause Down syndrome..

It is important to note that Down syndrome usually occurs by chance and is not inherited. The exact causes and factors contributing to Down syndrome are not fully understood.

Down syndrome managed or treated

There is no single, standard treatment for Down syndrome. Treatments are based on each person's physical and intellectual needs, strengths, and limitations. However, there are a variety of therapies and interventions that can help manage the symptoms of Down syndrome and improve quality of life. Some of the ways Down syndrome is managed or treated include:

1. Early intervention programs: These programs provide services to help children with Down syndrome develop to their full potential. They may include speech, occupational, and physical therapies.

2. Educational therapy: Children with Down syndrome may need extra help or attention in school, although many children are included in regular classes.

3. Physical therapy: Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.

4.Surgery: Surgical management of associated conditions should be provided as appropriate. Down syndrome alone does not adversely affect surgical outcomes in the absence of pulmonary hypertension

5. Regular medical care: Children, teens, and adults with Down syndrome need the same regular medical care as those without the condition, from well-baby visits and routine vaccinations as infants to reproductive counseling and cardiovascular care later in life

6. Assistive devices: Assistive devices, such as hearing aids and glasses, can help manage some of the health problems associated with Down syndrome.

7. Weight reduction and proper hygiene: Skin disorders can be treated with weight reduction, proper hygiene, frequent baths, application of antibiotic ointment, or systemic antibiotic therapy.

Despite continued work, no notable medical treatments for intellectual disability associated with Down syndrome have been forthcoming. However, the dramatic improvements in medical care have greatly improved the quality of life for patients and increased their life expectancy.

 

References:

1.       Penn Medicine. "Down Syndrome - Symptoms and Causes - Penn Medicine." Penn Medicine, www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/down-syndrome.

2.       ERIC. "Down's Syndrome. A Selective Bibliography. Exceptional Child Bibliography Series No. 604." ERIC, files.eric.ed.gov/fulltext/ED129023.pdf.

3.       Amazon. "DOWN SYNDROME A COMPREHENSIVE BIBLIOGRAPHY. ISBN 0-8240-7158-1." Amazon, www.amazon.com/DOWN-SYNDROME-COMPREHENSIVE-BIBLIOGRAPHY-0-8240-7158-1/dp/B000N5UAKC.

4.       Asim, A., Kumar, A., Muthuswamy, S. et al. “Down syndrome: an insight of the disease.” Journal of Biomedical Science, vol. 22, article number: 41, 2015, jbiomedsci.biomedcentral.com/articles/10.1186/s12929-015-0138-y.

5.       National Down Syndrome Society (NDSS). "About Down Syndrome | National Down Syndrome Society (NDSS)." NDSS, ndss.org/about.

6.       Medscape Reference. "Down Syndrome Treatment & Management: Approach Considerations, Surgical Care, Diet and Activity - Medscape Reference." Medscape Reference, 21 April 2022, emedicine.medscape.com/article/943216-treatment.