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Translocation Down Syndrome
47
Translocation
Down Syndrome
By Asmaa Ouhocine
Research about Down Syndrome
Doctors Report
Translocation Down Syndrome is caused when there are 3 number 21 chromosomes like trisomy 21 but one of the 21 chromosomes is attached to another chromosome instead of being separate. When Translocation Down Syndrome is found in a baby the parents are tested to determine who might be the translocation balanced carrier. A parent can be unaffected but have a rearrangement of genetic material between chromosome 21 and another chromosome which makes their translocation balanced. However, when this is passed down to future generations it can become unbalanced.
Not all persons with Translocation Down Syndrome will have the same symptoms but some of them include:
Symptoms
- Flat face
- Short height
- Small ears or unusually shaped ears
- Short neck
- Short fingers and small hands
- Loose joints
- Eyelids that slant upwards
- Small nose with a flat bridge
Treatment options:
There is no exact cure for Translocation Down syndrome. But a child with down syndrome may need treatments for the following problems:
Treatment options
Heart defects
Half of of the babies that have down syndrome have heart defects. Some of the heart defects are minor and only need to be treated with medicine. However, others may need surgery. It is recommended that a baby with down syndrome is to be checked by a echo cardiogram ( a heart ultrasound) within the first two months of their birth date. This is so if any heart defect is found it can be treated as soon a s possible.
Eye Problems
Common problems include crossed eyes, near or far sightedness, and cataracts. A child should see a eye doctor before they turn a year old. These problems are mostly resolved by glasses, surgery, and other likewise treatments.
Other health problems:
Other Problems
- Children with Down syndrome have an increased risk of developing Alzheimers, leukemia, and dementia.
- Symptoms for dementia might start appearing around the age of 50.
- Learning problems: Most conditions are mild to moderate but depend on the child. This can be treated with special education and early intervention.
Intestinal Problems
If a baby with down syndrome has this problem it needs to be treated with surgery.
Intestinal problems
Statistics
Statistics
- About 3 – 4% of people with Down Syndrome have translocation Down syndrome.
- Every year about 6,000 babies are diagnosed for down syndrome in the United States(1 in every 700 babies born).
- The number of babies born with down syndrome has increased by 30% from 1979.
- The older a woman when pregnant the more likely she will birth a child with down syndrome.
- In 2002, about 1 in 1,000 persons (0-19 years old) living in the US has down syndrome.
- About 83,000 children and teenagers had down syndrome in 2002.
Available technologies and products to assist
Technologies and products to help assist your child with Translocation Down Syndrome:
See and Learn Speech
See and Learn
Speech
https://www.seeandlearn.org/en-us/speech/
(See and learn speech) this is a program that specializes for kids with down syndrome to help them develop speech skills using special techniques. This kit can be bought globally. The apps can also be purchased from:
1. Apple iPads - Apple App Store
2. Windows tablets and PCs - Microsoft Store
3. Android tablets - Google Play
4. Fire tablets - Amazon
It works for both home schooled and school attenders.
PFM Pro
This is a listening system that allows the voice of the speaker to reach the child's ears clearly distinguished from the background noise. This helps your child concentrate and be free from any distractions. This also enhance their listening as background noises may result in poor listening to instructions. This can be used both at school and at home.
This is a picture of the PFM Pro.
Link: https://williamsav.com/product/pfm-pro/
Snap & Read
Snap
&
Read
Snap and read is a program for students that are challenged with reading. It is compatible with every single web page. It basically reads any text for you out loud (also available in other languages). It can also translate text into 100+ more languages. Another feature is the ability to change the dynamic text level without changing the meaning. Lastly, it provides text embedded in images. This is great for people with reading challenges and might be helpful for a child with down syndrome.
This is a picture of the app and pricing,
Link to app on google chrome: https://chrome.google.com/webstore/detail/snapread/mloajfnmjckfjbeeofcdaecbelnblden?hl=en
Link to app website:https://learningtools.donjohnston.com/product/snap-read/
Symphony Smart pen
Symphony Smartpen
The symphony smart pen allows individuals with down syndrome to work effectively. With the record feature that allows the person to record everything they hear, write, or say. This is vital to persons with down syndrome as it allows them to record a lecture than come back to it later and remember the key points.
This is a picture of the Symphony Smart pen.
Link to website: https://us.livescribe.com/collections/smartpens/products/symphony
Pedigree for Down Syndrome
Genetic Counselors Report
Punnett Square for Down Syndrome
Inheritance?
Inheritance
Translocation down syndrome can be inherited or happen by chance. A parent that is a translocation down syndrome carrier will have 45 chromosomes and two that are attached to each other. The parent is healthy because he still has two copies of those chromosomes they're only attached to each other. This parent is balanced. However, in future generations their children could become unbalanced and have translocation down syndrome.
What type of disorder?
What type
of disorder?
Translocation Down Syndrome is a autosomal recessive disorder because the parents can be carriers of the disorder without being affected. However, it is not a recessive or dominant disorder because genes are not being passed down in order to gain the disorder. In fact, this disorder is actually a chromosomal mutation because unpredictable changes are occurring to the chromosomes.
Genotypes of Parents
Genotypes of Parents
Dd
&
Dd
Because this is a autosomal recessive disease one parent has the genotypes Dd and the other has Dd The parent that has the genotypes Dd is the carrier as they have one recessive that carries the disease. The other parent is has the same genotypes.
Ability to be passed down:
Ability to be passed down
If a parent is a carrier of translocation down syndrome then there is a 15% of their children to inherit the disorder.
Parents report
Fortunately, I will not need to move to another place to gain treatment and support groups as there are plenty in Qatar.
Parent's Report
Estimated Medical Costs
Estimated medical Costs
- Most sources on the internet say that monthly averages come up to $80. Which would be about $18, 000 after my child is 18 years old.
Changes to my daily routine:
Changes to my daily routine
After reading many articles it is been generally said that Children with Down Syndrome respond better to fixed routines ( like all other children). Therefore, I will build a fixed schedule and hang it up somewhere in the house instead of just going with the day based on what comes up. Additionally, I will make time everyday to read words out loud so when the time for my child to start speaking it will come a bit easier. I will, also, make sure to buy a pack of large puzzles (because babies tend to like to eat anything small) at Lulu. Puzzles enhance the memory and fine-motor skills. When my child reaches the age of one I while start taking him to speech therapy.
I should also lay some time for my own friends and mental health because sometimes taking care of a child with down syndrome can get rough. I can even maybe get a therapist. These are all the changes I have decided to make to my daily routine upon the arrival of my child.
Accommodations that need to be made:
Accommodations
- Insert more visual pictures around the house. Like a chore chart that shows the chores that my child needs to do.
- I need to start giving simpler commands. For examples instead of "I told you that you'll be going to bed! Why are you still up! Please go brush you teeth and wash your face then come here so I can help you change into your pajamas." I should say, "Please go brush your teeth, now." This is more effective as my child won't be overwhelmed and confused by the many commands.
- Sometimes let my child take reasonable risks as it increases their risk-taking. But make sure to let them know why the risk is reasonable.
- I need to make a list of family and friends that I am comfortable in caregiving after my child while I take a walk, read a book, or just have some time for myself. This ensures that I don't feel burnt out.
Emotional Impact
Emotional Impacts
Raising a child with down syndrome is going to have some emotional impacts in my family.
1. There might be a lot of stress in my "family" as it will be difficult raising a child with a disorder. My spouse and I will need to work together in order to decrease the stress by taking the kids to fun outdoor trips and having lively dinners.
2. Another problem that may occur is that the siblings of my child with a disorder may feel neglected as most of my attention will not be on them but their sibling.
3. My other children will probably be more aware to problems that kids with disorders have to face and will be more responsible.
4. I might feel sometimes like a failure if my child doesn't behave like I want them too.
5. My spouse and I might feel burnt out after running after extra stuff for our child.
Child Impacts
Because my child will have down syndrome they might feel a bit left out and "different" from everyone else. Thats why I will not them treat them differently from their siblings. I will try to establish an environment where their disorder doesn't prevent them from achieving what they want. However, in schools and by people on the street my child might be treated differently. This could cause them to feel out of place and not good enough. Hopefully, an accepting atmosphere at home will change this for them.
Community Resources:
Community Resources
Local treatment centers
The following are some examples of Local Treatment Centers:
Step by Step
Step by Step is a center for special needs that provides special education and therapy intervention for kids ages 3-16 that are special needs. This center focuses a lot on socializing and how the kids will contribute to the community in the future to become powerful individuals. Some of its services include:
ABA (Applied Behavior Analysis)
Buddy Club (Social Skills Group)
Math Lab
Speech therapy
Occupational Therapy
Summer camp
Smart Start Early Intervention
Fantastic Fingers (Group Session)
Link to Website:https://www.stepbystepqatar.com/
OMEGA center for special needs
OMEGA
Omega was opened by a couple that had a son diagnosed with autism at the age of 4. This center educates the parents and caregivers of the children about how to better understand and handle the disorder. Some of the services include:
- Occupational therapy
- Sensory Integration Therapy
- Speech Therapy
- Behavioral Therapy
Link to website:http://www.omegaqatar.org/index3f49.html?r=site/index
Local Support Groups
Online Support groups
The following are support groups that are online:
Online Support Groups
LuMind IDSC
This resource provides plenty of Facebook support groups that are available for different ages of children with down syndrome. This resource and community also has lots of information available about Down Syndrome. They have spent $85 million in funding Down Syndrome Research.
LuMind IDSC
Link to website:https://www.lumindidsc.org/s/1914/20/home.aspx?sid=1914&gid=2
Link to list of Facebook groups:https://www.lumindidsc.org/s/1914/20/interior.aspx?sid=1914&gid=2&pgid=555
Uno Mass! Bulletin Board
Uno Mass!
Bulletin Board
This is a forum with over 1,000 member that encourages talk about down syndrome. People post topics when they need help or just are really stressed about the development of their child and this forum acts as a support system.
Link to website: https://unomas.proboards.com/
Best Buddies Qatar
This support group was created by Her Highness Sheikha Mozah Bint Nasser to help people with moderate to mild learning diffuculties. This support group offers social programs and activities for special needs. There are also special events and workshops to raise awarness about people with special needs. Additionally, there are programs that related to schools and universities.
Socials:
- https://www.instagram.com/bestbuddiesqatar/ (INSTAGRAM)
- https://www.youtube.com/channel/UCbdoiX0pmFGznJbuOVPrl0g (YOUTUBE)
- https://www.facebook.com/bestbuddies.qtr/(FACEBOOK)
- https://twitter.com/bestbuddiesqtr?lang=ar
(TWITTER)
Link to website:http://www.bestbuddies.org.qa/en/Pages/default.aspx
National Foundations that provide grants or funds:
National Foundations
Link:https://www.hamad.qa/EN/hospitals-and-services/CDRC/About/Our%20Services/Pages/Early-Intervention-Program.aspx
The HMC's Early Intervention Programme has funded 75 people this year that have down syndrome. This program provides grants and funds children that have down syndrome. This program offers early intervention to young children.
Special schools and Programs
Special Schools and Programs
- Doha International Center for special needs (Qatari Management with English)
Link:https://www.healthandmedical.qa/clinic-single/doha-international-center-for-special-needs
- Sunbeam Kindergarten
Link: http://qatareducationaldirectory.qa/Listing.aspx?Id=SunbeamKindergarten
Qatargas
Qatargas made a financial contribution to Shafallah Center for children with Special needs. This was done on May 17, 2015. The primary objective of this funding was to raise awareness about down syndrome in Qatar. The Shafallah Center was established in 1999 which was directed by er Highness Sheikha Moza bint Nasser. This was done as an act to raise awareness about children with disabilities.
Link to website:http://www.qatargas.com/english/contactus/Pages/default.aspx
References
References: