Kata Dokter : Kenali Apa itu Down Syndrome

Summary

This video discusses Down syndrome, a genetic condition caused by an extra chromosome 21, leading to developmental delays and physical characteristics like almond-shaped eyes and a flat nasal bridge. It explains risk factors, such as maternal age over 35, and highlights diagnostic methods during pregnancy, including ultrasound and genetic testing. The video also covers different types of Down syndrome, associated health issues like heart defects and thyroid problems, and emphasizes the importance of early interventions, such as physical and speech therapy, to support development. Immunizations and regular medical check-ups are recommended to manage health risks.

Takeaways

• 🧬 Down syndrome is a genetic disorder caused by trisomy of the 21st chromosome, leading to 47 chromosomes instead of the usual 46.
• 👶 Physical features of babies with Down syndrome include brachycephaly (shorter head), almond-shaped eyes, flat nasal bridge, low-set ears, and hyperflexibility.
• 📈 Risk factors for Down syndrome include maternal age over 35 and a family history of genetic disorders.
• 🩺 Down syndrome can be detected prenatally through screening methods such as ultrasound and the NIPT (Non-Invasive Prenatal Test) from as early as 10 weeks of pregnancy.
• 🧬 There are three types of Down syndrome: trisomy 21 (90% of cases), mosaic Down syndrome (some cells have trisomy 21, others are normal), and translocation Down syndrome (extra chromosome 21 attaches to another chromosome).
• 💖 Children with Down syndrome are at higher risk of congenital heart defects, which require screening with physical exams, X-rays, and echocardiography.
• 👁️‍🗨️ Common health complications include vision issues (e.g., congenital cataracts), hearing loss, and thyroid hormone problems.
• 💪 Early intervention therapies, such as physical therapy, occupational therapy, and speech therapy, are crucial to support motor and developmental skills in children with Down syndrome.
• 💉 Children with Down syndrome require full immunizations due to weakened immune systems, particularly against respiratory infections like pneumonia and influenza.
• 🌡️ Regular health check-ups are essential to monitor the growth, development, and overall well-being of children with Down syndrome.

Q & A

What is Down syndrome?

Down syndrome is a genetic disorder in children caused by the presence of an extra copy of chromosome 21, resulting in a total of 47 chromosomes instead of the usual 46.

What are some physical characteristics of Down syndrome?

Children with Down syndrome may have brachycephaly (a shorter head), almond-shaped eyes that slant upwards, a flat nasal bridge, low-set ears, and hyperflexibility in joints.

What are the risk factors for having a child with Down syndrome?

Risk factors include maternal age over 35 and having a family history of genetic disorders, including Down syndrome.

Can Down syndrome be detected during pregnancy?

Yes, Down syndrome can be detected prenatally through screening methods like ultrasound and non-invasive prenatal testing (NIPT), which can be done as early as 10 weeks into pregnancy.

What are the different types of Down syndrome?

There are three types: Trisomy 21 (the most common, where all cells have an extra chromosome 21), Mosaicism (only some cells have the extra chromosome), and Translocation (the extra chromosome attaches to another chromosome).

How is Down syndrome confirmed after birth?

Down syndrome can be confirmed through karyotyping, a test that examines the chromosomes in a child’s cells.

What common health issues are associated with Down syndrome?

Children with Down syndrome may have heart defects, vision problems like congenital cataracts, hearing loss, and thyroid hormone abnormalities.

What therapies are beneficial for children with Down syndrome?

Physical therapy, occupational therapy, and speech therapy can help with motor skills, daily living activities, and communication skills, respectively.

Why is immunization important for children with Down syndrome?

Due to immune system dysregulation, children with Down syndrome are more susceptible to infections, particularly respiratory infections, so vaccines like PCV and influenza are essential for prevention.

What is the importance of routine monitoring for children with Down syndrome?

Routine monitoring by a pediatrician helps ensure optimal growth and development, manage health issues early, and provide necessary support and interventions.