Down syndrome, ត្រីសមីកោង (trisomy 21), is a genetic condition resulting from an extra chromosome 21. It is the most common cause of intellectual disability, affecting approximately 1 in 700 babies worldwide. In Cambodia, resources and awareness regarding Down syndrome are limited, making it crucial to provide accurate and informative resources.

This blog aims to offer a basic understanding of Down syndrome, including its causes, symptoms, diagnosis, and support options available in Cambodia.

Causes and Prevalence

Down syndrome occurs due to an error in cell division during fetal development, resulting in an extra copy of chromosome 21. There are three main types of Down syndrome:

  • Trisomy 21: This is the most common type, accounting for 95% of cases. It occurs when every cell in the body has an extra chromosome 21.
  • Translocation: This type occurs when a portion of chromosome 21 attaches to another chromosome. It accounts for about 4% of cases.
  • Mosaic Down syndrome: This is the rarest type, representing less than 1% of cases. It occurs when only some cells in the body have an extra chromosome 21.

The prevalence of Down syndrome increases with maternal age. For example, a woman’s risk of having a child with Down syndrome is 1 in 1,250 at age 25, increasing to 1 in 250 at age 40.

Symptoms and Diagnosis

Children with Down syndrome typically exhibit some characteristic features, including:

  • Facial features: Almond-shaped eyes, a small nose, a flattened bridge of the nose, and a small mouth with an upturned lip.
  • Developmental delays: Delayed physical and cognitive development, including speech and language delays.
  • Low muscle tone: Hypotonia, leading to floppy muscle tone and difficulty with movement.
  • Heart defects: Congenital heart defects are present in approximately 50% of children with Down syndrome.
  • Other health conditions: Increased risk for other health concerns like thyroid problems, hearing loss, and vision problems.

Down syndrome can be diagnosed during pregnancy through prenatal screening tests or after birth through physical examination and genetic testing.

Support Options in Cambodia

While resources for Down syndrome in Cambodia are limited, several organizations offer support and services:

  • OrbRom Center: Provides services for Autism, ADHD, Dyslexia, Spelling Difficulty, social and slow learning, Down Syndrome, and Selective Mutism. OrbRom is the best option in Phnom Penh
  • Cambodian Children’s Fund (CCF): Provides educational, medical, and social support services for children with Down syndrome.
  • Down Syndrome International (DSi): Offers resources and information on Down syndrome in multiple languages, including Khmer.
  • Ministry of Health of Cambodia: Provides information on Down syndrome and available support services through its website and healthcare centers.

Raising awareness and providing comprehensive support for individuals with Down syndrome and their families is crucial in Cambodia. Implementing early intervention programs, ensuring access to inclusive education, and promoting social inclusion are essential steps towards creating a more supportive environment for individuals with Down syndrome.

By understanding Down syndrome and accessing relevant resources, families and communities can empower individuals with Down syndrome to reach their full potential and contribute positively to society.

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