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Everything You Need To Know About Down Syndrome

Trisomy 21 or most commonly known as Down Syndrome, is a condition in which a child is born with an extra chromosome. This extra chromosome causes delays in child development, both physically and mentally.

Unfortunately, there is no available treatment for Down Syndrome. But the health problems that may arise can be treated, and there are a lot of resources available that may help these children and their families.

In the following videos, we are joined by geneticists, Dr. Cheryll Magbanua-Calalo and Dr. Bon Maceda, and developmental pediatrician, Dr. Alexis Reyes as we discuss what is Down Syndrome and how can we help children with this condition.

What is Down Syndrome?

Geneticist and pediatrician, Dr. Bon Maceda explain to us what is Down Syndrome and what are the unique physical features of children with this condition.

What are the risk factors for Down Syndrome?

A lot of people, especially the parents of children with Down Syndrome often ask, “why does my child have Down Syndrome”? In this video, Dr. Cheryll Magbanua-Calalo lists down the known risk factors for Down Syndrome.

What is a Geneticist?

In this video, we will learn what is a geneticist, which patients are referred to them, and the vital role they play in helping children with Down Syndrome.

What you need to know about Karyotyping or Chromosomal Analysis

Karyotyping or Chromosomal analysis is a test that allows doctors to examine your set of chromosomes. This test is very useful in identifying genetic problems as the cause of a disorder or disease. in this video, we will learn more about the Karyotyping procedure.

What are the frequently asked questions about Down Syndrome?

Join us and geneticists, Dr. Bon Maceda and Dr. Cheryll Magbanua-Calalo as we try to answer some of the most frequently asked questions about Down Syndrome.

FAQs on Down Syndrome:

  • 1:42 – What is a Geneticist?
  • 3:34 – Which patients are referred to a Geneticist?
  • 5:49 – What is Down Syndrome?
  • 6:40 – What are chromosomes?
  • 9:34 – What are the physical features of children with Down Syndrome?
  • 11:44 – What are the risk factors of Down Syndrome?
  • 16:43 – What should you do if you learned, prenatally or right after birth, that your baby may have Down Syndrome?
  • 17:57 – Where is Karyotyping done?
  • 18:43 – How can patients avail themselves of the Karyotyping services if they live in the province?
  • 19:20 – How much is Karyotyping?
  • 19:52 – How important is Karyotyping?
  • 22:07 – What are the possible medical problems of children with Down Syndrome?
  • 25:25 – What is atlantoaxial instability?
  • 27:20 – What is the first thing you need to do when you learn your child has Down Syndrome?
  • 29:28 – Do geneticists have online consultations for patients living in the provinces?
  • 3:08 – Is 2D echo required for children with Down Syndrome?
  • 36:05 – If a child with Down Syndrome doesn’t present any other medical problems, when should they undergo repeat evaluation?
  • 38:12 – Is X-ray required for atlantoaxial instability?
  • 39:53 – Do you have an age limit on the tests done to children with Down Syndrome?
  • 41:06 – What is the recurrence risk of the different findings of Karyotyping?
  • 42:09 – If the parents of a child with Down Syndrome have no plans of getting pregnant again, are they still required to do Karyotyping?
  • 42:59 – What is mosaic Down Syndrome?
  • 44:15 – What to do if a child with Down Syndrome snores?
  • 45:13 – Is there a support group for children with Down Syndrome and their families?
  • 47:02 – What is Newborn Screening Test?
  • 50:04 – When can Newborn Screening Test be done?
  • 51:13 – What happens if the parents were not able to get the Newborn Screening Test result?
  • 52:09 – What to do if the Newborn Screening Test is positive?
  • 53:30 – What is the life expectancy of children with Down Syndrome?
  • 54:51 – Is it possible for people with Down Syndrome to have a child?

Frequently Asked Questions on Down Syndrome with Dr. Alexis Reyes

Joining us in this video is one of the highly-esteemed developmental and behavioral pediatrician in the Philippines, Dr. Alexis Reyes. She will help shed light on the frequently asked questions about Down Syndrome that focuses on the developmental and behavioral side of this condition.

These are the questions that were discussed:

  • 3:36 – Is it true that only those with increased maternal age are most likely to have a child born with Down Syndrome?
  • 7:15 – Is it true that children with Down Syndrome are always happy?
  • 9:13 – What are the most common developmental concerns of children with Down Syndrome?
  • 16:02 – When a child is diagnosed with Down Syndrome, does that automatically mean they have a severe intellectual disability?
  • 21:04 – What are the motor skills of children with Down Syndrome?
  • 26:22 – Will it be possible for children with Down Syndrome to attend regular school?
  • 32:00 – How can we help kids with Down Syndrome who needs to attend online learning during this pandemic?
  • 35:42 – What are the educational options of kids with Down Syndrome when they eventually become teenagers?
  • 39:25 – How do we help children with Down Syndrome who are being bullied at school?
  • 52:38 – How can parents help their kids with Down Syndrome become friendly with other children?
  • 1:02:22 – What is the lifespan of a child with Down Syndrome?
  • 1:06:30 – What can we expect when a child with Down Syndrome grows old?
  • 1:14:05 – Stories of people with Down Syndrome who managed to land a good job.
  • 1:22:08 – How are people with Down Syndrome when it comes to fostering relationships with the opposite sex?
  • 1:26:58 – Can Down Syndrome be treated?
  • 1:28:56 – Why is it important for kids with Down Syndrome to consult a developmental pediatrician?

If you’re a parent of a child who has Down Syndrome, one of the most useful things that you can do is to learn about this condition as much as you can. There are a lot of available resources online as well as communities for children with Down Syndrome and their families that you can reach out to. Support, be it from families or support groups, can contribute significantly to the child’s and the family’s well-being.

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Victoria Ang-Nolasco, MD is a developmental and behavioral pediatrician, parent coach, and mom.

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