Down Syndrome Signs and Symptoms
Signs and Symptoms
Down syndrome is a genetic condition caused by extra genes from the 21st chromosome that result in certain characteristics including some degree of mental retardation, or cognitive disability, and other developmental delays. The incidence of Down syndrome in the United States is about 1 in 1,000 births. There is no association between Down syndrome and culture, ethnic group, socioeconomic status or geographic region.
Age-related Risks
Generally, the chance of having a Down syndrome birth is related to the mother’s age. The odds of having a child with Down syndrome at age 35 are about 1 in 350. Under age 25, the odds are about 1 in 1,400. At age 40, the odds are about 1 in 100.
Types of Down Syndrome
There are three types of Down syndrome:
Trisomy 21 — An estimated 95 percent of people with Down syndrome have Trisomy 21, meaning an individual has three instead of two number 21 chromosomes. We normally have 23 pairs of chromosomes, each made up of genes. During the formation of the egg or the sperm a woman’s or a man’s pair of chromosomes normally split so that only one chromosome is in each egg or sperm. In Trisomy 21, the 21st chromosome pair does not split and a double-dose goes to the egg or sperm. An estimated 95 percent to 97 percent of the extra chromosome is of maternal origin.
Translocation — This occurs in about 3 percent to 4 percent of people with Down syndrome. In this type, an extra part of the 21st chromosome gets stuck onto another chromosome. In about half of these situations, one parent carries the extra 21st chromosome material in a “balanced” or hidden form.
Mosaicism — In mosaicism, the person with Down syndrome has an extra 21st chromosome in only some of the cells but not all of them. The other cells have the usual pair of 21st chromosomes. About 1 percent to 2 percent of people with Down syndrome have this type.
In addition to mental retardation and other developmental delays, some common physical traits are an upward slant of the eyes; flattened bridge of the nose; single, deep crease on the palm of the hand; and decreased muscle tone. A child with Down syndrome, however, may not have all these symptoms.
Typically, parents of Down syndrome babies don’t have any symptoms themselves even though they may carry an abnormal gene.
Risk of Recurrence
After the birth of a child with Down syndrome, the risk of having a second child with Down syndrome depends on what caused the condition in the first child. A medical geneticist or genetic counselor should be consulted to get more precise information on the risks. The following are some general guidelines:
Trisomy 21 — The risk of Down syndrome recurring is either 1 percent to 2 percent or the risk based on the mother’s age, whichever is higher.
Translocation — The risk of Down syndrome recurring depends on if the translocation was inherited or not inherited. If not inherited, the risk is the same as the risk based on the mother’s age. If inherited, the risk depends on the type of translocation and the sex of the parent carrying the chromosome abnormality. For the more common “balanced” or hidden translocation, the risk ranges from about 3 percent when the father is the carrier to about 12 percent when the mother is the carrier. If a parent carries a rare “21;21″ translocation, the risk for Down syndrome is 100 percent.
Mosicism — The risk is about the same as risk based on the mother’s age.
Reviewed by health care specialists at UCSF Children’s Hospital.
Last updated March 21, 2008
i am about 3 months into my pregnancy, my boyfriend has a sister with down syndrome and i do not have any family health concerns. i just wanted to know whats the percentage of the baby having it and if i should be more concerned then ever? i am going to get the test done for it but i just feel really concerned at this point.
hi i just found out through my blood test that i am of high risk to be having a baby with ds a friend mentioned typically you are larger in this pregnancy than others (which i am) did any of you find this to be true?
many thanks
rebecca
Here is a great site to learn about downs syndrome and other birth defects.
Good luck!
Thanks for sharing.
Do you have any others? Also, wondering if you might be interested in sharing resources with the community…Many ppl here are starving for information and I simply don’t have enough time…
Any thoughts?
We gave birth to a child with down syndrome just 4 months ago. She was diagnosed at birth, and we were shocked. Despite this, I can assure anyone who is reading this that it will change your life in a positive way. Our daughter is beautiful. LIFE is beautiful. Do not despair. Fight for your sons and daughters. It is worth the journey. It is worth the struggle. There is hope and resources for you. When our daughter smiles…and your son or daugher WILL SMILE!….it will melt you and nothing else matters.
What a wonderful comment. Thanks so much!
Justin
It is wonderful to hear parents who have children with Down’s syndrome talk with so much love. I denied an amnio despite doctor’s suggestions because I had an ivf pregnancy and I could not afford to risk it. My risk during the first timester screening came at 1:162 and since then I have to admit that my life has changed. At moments I am feeling super strong saying to myself that I can do it, it will not affect my family, we can handle it because we have a lot of love to give and everything will be ok, at other moments i am feeling lost afraid about my baby’s future, about how society will treat my son, will it affect my elder daughter’s life,will it affect my relationship with my husband? I am due in January so I have another month and a half to torment my soul with all the what ifs. I used to think that i was a good person and now I question myself how good can I be if I am so afraid of having a child with Down’s, will I be a good mother to him?
Eleutheria,
Enjoy your pregnancy!!!! If you have a child with down syndrome, I promise you all will be ok. It is a time of adjustment but all of your fears will melt when you look into your child’s beautiful little eyes. 1:162 are very small odds so please don’t worry. You’ll cross that bridge if it gets there.
Just that you are thinking about being a good mother means that you will be! Again, enjoy your pregnancy. All is going to be great.
Justin
I turned 41 last month and found out I am pregnant a few days before my birthday. I have a sister who has DS, my mother gave birth to her when she was a few years older than I am now. I am concerned about the prospect of having a Down’s child even though I know how loving and sweet they are. I don’t know how to come to peace with the idea that it might happen.
Patty,
Don’t worry until there is something to worry about. Having a child with DS is a challenge but also a wonderful gift. If you should happen to be given the wonderful responsibility of being a parent of a child with Down Syndrome, you will love that baby and cherish the experience in a way that you can’t understand right now.
Have a wonderful pregnancy and please don’t worry … everything will be wonderful for you and your family.
Justin
Enjoy the journey of being pregnant!! There is no other journey like it. I became pregnant at 38 and was not large in size at all. I too denied and amnio as I did not want to risk the complications, and we decided to have the baby no matter what. God blesses people he knows can handle the joys and trials of having a child with Downs. Any negative thoughts you may have (and you’ll have more) are normal. No matter the parent, no matter the child, you will always wonder if you are doing a good enough job. We are all doing the best that we can with the resources we have….And use those resources available to you – that’s what they are there for.
That baby will bring you joys you didn’t know were possible. Enjoy the journey!
This past month I have lost my baby at only 15 weeks of pregnancy. I did have an Amnio done, it was determined that I had a baby girl and that she indeed had downs. It was detected at 12 weeks of pregnancy that there was a high risk of DS, but the major concern was fluid around her heart. I was told that her heart defect was a result of the Downs. I am wanting to try again, for another child. My concern is that I will have to loose another baby … what are my chances of having another baby with DS or more importantly, my chances of loosing my baby?
Also, is there support groups and/or other sires that I can get this imformation from?
We have a daughter with Downs who just turned two. In late June 2009, we found out we were pregnant again, and very much looking forward to the journey – what ever the outcome. Well, it wasn’t meant to be, and in August I had a miscarriage. The lemonade out of the lemon, was that the child was chromosomally correct (no DS). While your odds of conceiving another child with DS are greater (especially if your age is a factor), there is still the hope that you will have a perfectly fine child as well. Again, enjoy the ride!
My little brother was born with down syndrome 4 and a half years ago. He is probably one of the most intelligent 4 year olds i have ever met. He is extremely smart an very talented ad loves to color. It is a challange when they are growing up, but they are so cute and loveable that it gets easier. So dont be scared, there really isnt anything to worry about.
hello im monique richmond im pregnant with my third child i was tested for down syndrome but they didnt yet do the fluid test the one they do from the tummy the doctor said that i may be ok the blood test tested 1 out of 650 for down syndrome so will i be ok no one in my family has it i have a 20 yr old son a 18 yr old daughter a 8 yr old daughter they all were healthy i am 40 yrs old i had my oldest at 20 my oldest daughter at the age 23 the youngest daughter at 33 i am now 40 i was a little worried but i am ok i believe in god i just needed some answers.god bless all the familys who are deali with down syndrome may god give them the blessing.please give me the answers .
Monique,
I hope things worked out for you.
Justin
I’m seventeen, and I am five months pregnant just about with a baby girl.We got a call three days ago from my OB, and he said the blood test came back positive for down syndrome. Whether my baby has down syndrome or not, i’ll love her with everything i have in me. I’m so scared, that I wont be able to give her what she needs. Any advice?
Hi Shawnda…My advice to everyone is always just to love your baby little girl with all your heart and the rest will work itself out and be wonderful in a way that you can’t understand right now…We have all had the exact same feelings as you and one thing that I’ve found to be universal among us is that we inevitably all feel that our lives change and our experiences become more meaningful and our perception of the World a little clearer.
Feel free to email me if you have any questions or just want to talk. We wish you the best with your baby girl. Life is so interesting .. sometimes we can’t explain why things happen but more often than not, they seem to happen to people that can handle them.
Take care,
Justin
Hey Justin! I think this website is wonderful. You have done a great job. I did post on the expecting page but I wanted to do it here also. At 17 weeks my ob noticed that our daughter may have a heart defect, at that time the quad blood test they do did come back negative at 20 weeks we found out that yes in fact she does have a av canal heart defect, at 21 weeks we did the amino and at 22 weeks we did find out that all 4 groups of cells they tested did grow a 3rd 21st. I do have to say I was divested, I know you know all the emotions of what you go though. I blamed myself and wanted to know what I could have done to cause this, I had done everything 100% by the book. I learned there wasn’t anything I did to cause this, it is just something that happens. I was sitting in the doctors off crying and the genetic consular came in and handed my husband and I two books, on the cover of both of those books was the most beautiful babies with down syndrome. I remember crying and looking at my husband and saying they are beautiful. We are not at week 26!! We are taking everything one day at a time and learning as much as we can about down syndrome and av canal as we can before she gets here. We have also looked into places to have her heart surgery. do you have any suggestion of the best way to be prepared??
Thank you! My only suggestion to you is be prepared to have a wonderful little baby that will keep you awake…Get some sleep as often as you can
Your baby is going to be great! You are going to develop a bond with her that I can’t even explain right now. Something will change in you and your husband that will be magical. Just as any new parent, your view of the World will become clearer in a way that you can’t never understand right now.
It is impossible for me to relate what it will be like for you but I promise life will be better for you once your little baby comes. I tend to stay away from the various platitudes that are often used but the one that I always think is a truism is that you have been given an opportunity and a gift and once you have a chance to experience that gift, the pain will be a distant memory.
Please keep in touch. I look forward to getting to know you and your family more.
Sincerely,
Justin
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One of our wonderful visitors wrote in asking for activities to do with a group of people to help them get an understanding of what it might be like to have Down syndrome. The activities included are great for parents to present to their child’s class, a teacher to present to their class, or even a student to present to their class as a project. We appreciate this educator’s commitment to making the world a better and more accommodating. Thank you for everything that you do.
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That which we do today will echo throughout the generations to come
One of our wonderful visitors wrote in asking for activities to do with a group of people to help them get an understanding of what it might be like to have Down syndrome. The activities included are great for parents to present to their child’s class, a teacher to present to their class, or even a student to present to their class as a project. We appreciate this educator’s commitment to making the world a better and more accommodating. Thank you for everything that you do.
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Thank you Laura for bridging the relationship with such a wonderful organization. If you live in the Long Island area or if you have the inclination to help their wonderful support group, please consider providing assistance in the form of either volunteerism or financial support. Additionally, the Down Syndrome Research and Treatment Fund has an online store that further supports important DS research that hopefully will benefit all of our loved ones in the future. Support for DSRTF can be in the form of purchasing items from the Down Syndrome Store.
What is Down Syndrome? »
What is Down Syndrome?
Down syndrome is a genetic disorder that delays in physical and intellectual development. The condition varies in severity, so developmental problems may range from mild to serious.
Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 800 infants. Every year, as many as 6,000 babies are born with Down syndrome in the United States. The condition is named after John Langdon Down, the doctor who first identified the syndrome.
There’s no medical cure for this condition. But increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome.
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