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Doctor insights on: Laura Downs

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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Why did my baby get downs?

Why did my baby get downs?

Problem in chromasms: Babies are supposed to get 23 chromosomes from mom & 23 from dad at he point of conception. In ds babies, an extra # 21 chromosome joins the mix for reasons that are not clear. As the egg grows the extra becomes part of every cell & baby is born with ds & all its problems. We know there is risk of ds for any pregnancy & somewhat higher for mom <17 or > 40. Genetic counseling could give u specifics. ...Read more

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How do they diagnose downs?

How do they diagnose downs?

Exam and blood test: Initially the diagnosis of Down syndrome is based on the baby's appearance. If the newborn displays some or all of the characteristics of down syndrome, the doctor will order a test called a chromosomal karyotype. This blood test evaluates the child's chromosomes. If there's an extra chromosome 21 present in all or some of the cells, the diagnosis is down syndrome, or trisomy 21. ...Read more

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Can you tell by looking if baby has downs?

Can you tell by looking if baby has downs?

Many can/not always: Ds has a remarkably consistent set of physical features that a knowledgeable person will recognize in a newborn or older child. Yet in 3+ decades, I have seen a 21 trisomy that appeared more like a dwarf & 13 trisomy & an occasional ds kid with features so mild you would not suspect it. Physicians need to tell parents when they suspect such an issue, but testing is imperative to confirm it. ...Read more

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Why do downs syndrome kids have trouble eating?

Why do downs syndrome kids have trouble eating?

Eating: Size of mouth and oral cavity usually crowded by size of the toungue.

Have your child seen by your pediatrician for appropriate physical examination and reccs and referrals. ...Read more

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What is the probability of having a child with downs syndrome?

What is the probability of having a child with downs syndrome?

Depends on mom's age: A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with Down syndrome are actually born to women under age 35 because younger women have far more babies. ...Read more

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What are my chances of having downs syndrome if I am a 37yo female?

What are my chances of having downs syndrome if I am a 37yo female?

1:225: It's 1:150 in the 2nd trimester and 1:225 at birth - see http://www. Ds-health. Com/risk. Htm. ...Read more

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Why does your chance of having a downs child increase as you grow old?

Why does your chance of having a downs child increase as you grow old?

Old egg less perfect: Down syndrome begins with making eggs (or sperm), in which a "pre-egg" (or pre-sperm) cell with 46 chromosomes splits into 2 eggs (or 2 sperm). Each egg (or sperm) must get 23 chromosomes, but instead one egg gets both the #21 chromosomes and the other egg gets none. An egg with two #21's mated to a sperm with one #21 creates down syndrome: three #21's. Egg problem occurs more often in older moms. ...Read more

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Why do I have ups and downs? Like i'll be done one min and later bummed.

Sounds: Like you are not the happiest inside. Don't know why this is happening to you. You should seek out a professional counselor to help you figure out what you are feeling and might be able to help you figure out why. They can help you deal with your feelings and decide if you need referral for medications or not. ...Read more

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Can someone have the physical features of someone with downs syndrome but not actually have it?

Can someone have the physical features of someone with downs syndrome but not actually have it?

Yes: Some features of Down syndrome are seen in other malformation syndromes. The hypotonia, congenital heart disease and dermatoglyphic abnormalities are common in a variety of these other syndromes. ...Read more

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I've been having ups and downs lately not motivated and do nothing and I have amitriptilene should I take to lessen what im feeling right now?

I've been having ups and downs lately not motivated and do nothing and I have amitriptilene should I take to lessen what im feeling right now?

When to use medicine: No. Amitryptiline is now used mainly for chronic pain and sleep. To get the right treatment for your problem with amitryptiline you would need so much doses that it would be like turning you in to a zombie.

You need to bring these feelings and your history to your trusted medical advisor or a therapist. You may need better treatment options to help you smooth out your emotions. ...Read more

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We have a child that's 9 and she has downs she got choked a week ago and want eat we have tryed everything we can think of we took her to the hospita and they diddnt find anything any suggestion on how we can get her to eat

We have a child that's 9 and she has downs she got choked a week ago and want eat we have tryed everything we can think of we took her to the hospita and they diddnt find anything any suggestion on how we can get her to eat

Children: Children with Down syndrome have issues of low muscle tone which can affect their ability to chew and swallow foods effectively. If she recently had an episode of choking on food, this very well may have shaken her confidence, making her feel scared to try certain foods at this point.
The best strategy at this point is probably to have her seen by her pediatrician and likely a pediatric speech therapist who can help guide you in getting her back on the road to safe and effective eating. The assessment would likely include a careful assessment of her swallowing skills and recommendations as to where she can safely and confidently begin. Recommendations may be made such as for thickening of liquids or keeping solid foods to certain consistencies to make it easier to swallow them.
The most important point is not to force feed the child as this will end up having the reverse effect of making her feel less safe and more fearful of eating. ...Read more

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Could downs syndrome be a part of asd?

Could downs syndrome be a part of asd?

Please be specific: When asking questions on the site please avoid using initials or labels that may have several interpretations. ASD could relate to a heart defect or autistic spectrum disorder as an example & the answer would differ significantly. Though ds patients can have the heart defect, autism spectrum label would be considered inappropriate for a ds patient even though some of the symptom features overlap. ...Read more

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Are there ways to prevent having a child with downs syndrome?

Are there ways to prevent having a child with downs syndrome?

Yes: Most often, down's syndrome, or trisomy 21, occurs in women over the age of 35 and increases with age. For people at risk, there are definitive diagnostic tests (cvs and amniocentesis) that can confirm or rule out a chromosomal abnormality. Also, most states offer comprehensive screening tests that inform patients whether they are at increased or decreased risk of carrying a down's syndrome baby. ...Read more

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Are there any races that are genetically linked to downs syndrome?

Are there any races that are genetically linked to downs syndrome?

No: Down sydrome occurs in all races and all ethnic groups at about the same rate. It is probably impossible to truly compare occurence rates in various groups because of the many inter-racial or inter-ethnic families in america. A study done about 20 years ago reported that hispanic women had a slightly higher rate of Down syndrome babies, but I am not sure how valid those study results are. ...Read more

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Why do people with downs syndrome have exceptionally long tongues?

Why do people with downs syndrome have exceptionally long tongues?

Physical Trait: People with Down Syndrome have oversize tongue (Macroglossia)
It is a physical trait that is there because of Down's Syndrome ...Read more

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How often do babies with downs syndrome also have problems with vsd?

How often do babies with downs syndrome also have problems with vsd?

50%: About half of babies with Down syndrome will have congenital heart disease. The majority will have atrioventricular septal defect, aka av canal or endocardial cushion defect. ...Read more

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How does blood determines how high or low risk you are of having downs syndrome baby?

How does blood determines how high or low risk you are of having downs syndrome baby?

They r getting bette: At finding the baby's cells in the blood of the mother. With that, they can see if the baby has abnormal chromosomes and if the baby has Down's. ...Read more

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My new nephew has downs w/missing pages of chromosome number two. What does this mean?

Chromosome deletion: When parts of a chromosome are missing, it is referred to a deletion. Here is a link with a list of possible conditions associated with Chromosome 2 deletion:

http://ghr. Nlm. Nih. Gov/chromosome/2/show/Conditions ...Read more

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What to do if I have downs syndrome. How do I get my friends to stop calling me names?

Get new friends: Sorry to hear that your friends and truly NOT your friends and if they can not except you for who YOU are then you need to find others that will appreciate you for who you are. GET NEW FRIENDS. No worries ...Read more

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What do you suggest if my new nephew has downs w/missing pages of chromosome number two?

What do you suggest if my new nephew has downs w/missing pages of chromosome number two?

Many things: I usually have them see cardiology & genetics. They need to be hooked up with an early intervention program. They need to have CBC and thyroid studies followed yearly (increased chance of thyroid disease & leukemia). He will need X-rays of his neck when he is older. Vision screens.

Forgot. .. lots of love. Kids with Down's are lovable awesome kids. ...Read more

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Is there a way to have your DNA altered so you have 0% chance of having a child with downs?

Is there a way to have your DNA altered so you have 0% chance of having a child with downs?

Not a chance: At any age all pregnancies have about 4% risk of an unexpected outcome. (Premi, cleft palate, infection, DS, etc) As you pass 40 you begin to add higher risk of DS, as lifelong exposures to toxins affects egg quality. You can get non-invasive (mother's blood) information on a pregnancy as early as 8-10 wks with NIPP. This test commonly done for paternity can also detect DS very early. ...Read more

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If there is no sign of Down syndrome in my family, what are the chances I will have a child with downs?

If there is no sign of Down syndrome in my family, what are the chances I will have a child with downs?

Getting higher: These risks are basically related to age. As you pass 40 it hits 1% and by 45=2% and after 50 as much as 5%.You must add that to the 4% baseline every pregnancy faces. There are screening tests that help yu know ahead of time that a problem is coming. ...Read more

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What are the odds of having a child with downs syndrome in the u.S., if you do all the appropriate screenings?

What are the odds of having a child with downs syndrome in the u.S., if you do all the appropriate screenings?

Age dependent: One fourth of pregnancies that are affected by downs are either stillborn or miscarried, that said, one of the greatest variables is maternal age at conception.
If you are 20 years old the risk is roughly 1 in 1600, if you are 35 the risk is about 1 in 380 and if you are 40 it is about 1 in 106. ...Read more

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Does an av canal defect cause downs syndrome?

Does an av canal defect cause downs syndrome?

No: Av canal does not cause down syndrome, but av canal is one of the abnormalities that make up Down syndrome (a syndrome is a group of abnormalities that appear together in affected persons). The cause of Down syndrome is the presence of an extra chromosome #21. ...Read more

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Is downs syndrome an inborn error of metabolism?

Is downs syndrome an inborn error of metabolism?

Extrachromosome: Down syndrome is due to one extra copy of chromosome number 21, trisomy 21. It is not due to a single gene defect affecting metabolism of one entity. ...Read more