FAQ - Isaacs Syndrome
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What is the genotype of cri du chat syndrome?


What are the possible genotypes of the parents that have children with cri du chat syndrome? Or what are the genotypes of the children with cri du chat syndrome?
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um... its a chromosome 5p deletion that causes all the problems. It would be noted as
"46, XX (XY if male) 5p-" in the child. This disease doesn't follow a Mendallion inheritance pattern. It occurs due to random mutations. And the child usually don't have offspring of their own. if you have more questions please ask, hope that helps.

P.S. I expect a 16 yr old to know what Mendallion inheritance is because my 16 year old sister knows. In fact, she reminded me of his name.  (+ info)

what is the difference between Klinefelters and Turners syndrome?


i have to do a project on turners syndrome. i accidentally picked klinefelters in the beginning when we were choosing project subjects. i'm in 7th grade, i didn't know any better! i started researching the history on wikipedia, and it GROSSED ME OUT!!! it was the male reproductive system, i'm squemish. another boy got turners syndrome, about the female reproductive system. he switched with me. i know that it has to do with having an extra chromosome, but are there anymore differences other than one is female, other is male?
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with turner syndrome the females actually have 1 less chromosome not an extra one, or sometimes only part of the X chromosome is missing. The reproductive system in turner syndrome is only 1 small part of the condition. They tend to have non functioning ovaries. Womb, cervix and vagina are usually quite normal.
Turner syndrome girls have short stature which is helped by giving daily growth hormone injections until final adult height is achieved (around 16-18yrs of age) it's not unusual these days in the UK to start this treatment aged 18 months.
estrogen treatment is given around the age of 12/13yrs to give the girl puberty changes, then progesterone is added to give the girl a monthly bleed (period)
other problems that may be present is
heart problems (surgery needed)
kidney problems
thyroid problems
diabetes
frequent ear infections
lymphodema , swelling of feet and hands, which is often how a new born is diagnosed
small lower jaw
high arched pallet in the mouth causing feeding problems
infertility due to the non functioning ovaries
each girl will be different, not all have the same symptoms, in the main they look very much like other girls so it can be hard to tell a girl/woman has turner syndrome.
there can be some learning problems but mostly that is very mild and most will attend mainstream school.  (+ info)

How can Wilson's Syndrome be treated at home without a prescription?


My doctor has done a complete blood count and says there is no thyroid problem b/c the blood tests were normal. She has no knowledge of Wilson's Syndrome. My symptoms are, low body temperature(between 97.0 - 98.3) consistantly, weight gain, even with extra work outs and diet, dry skin, frequent swallowing trouble, excessive tiredness,& dry eyes. I would love to hear of some at home remedies or supplements that may help. Thank you.
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stop the yeast, sugar, corn, mushrooms and watch mister wilson go away!  (+ info)

What is progressive reversible encephalopathy syndrome?


My friend was just told her Aunt has this after a few weeks in hospital. I try looking it up so I can try and help her understand this but everytime I do It comes up as Posterior Reversible encephalopathy syndrome. Is there a diffrence ?
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It means she has something going on that has effected her brain, and that the doctors think it is reversible, .......she will get better.......if she does what it takes to get bettrer.
There are many possible causes of this, anywhere from nutrition deficiencis, to liver damage........  (+ info)

What are the chances of us having a baby with down syndrome?


My husband has two brothers, one of them has down syndrome. We currently had a miscarriage in September. The doctor didn't know why but it was possible that it was a baby with down sydrome. He wasn't for sure but he said it COULD have been a possibility as to why we lost that baby. We are now trying for baby #2, what are the statistics and the chances that our child and all of our children in the near future will have down sydrome?
My husband and I are both 23 years old.
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If you and your husband are 23 the chances of you having a down syndrome baby are VERY VERY slim! The younger you are (within reason of course) the better chances you won't have a child with downs syndrome.. how old was your mother-in-law when she had the baby with down syndrome? If you do become pregnant again you could talk to your doctor about doing a prenatal screening to see if your baby does have down syndrome so you could better prepare yourself if you feel that it is needed  (+ info)

What is the difference between being bipolar and having asperger's syndrome?


I read that there is a fine line between being bipolar and having asperger's syndrome (which is on the autism spectrum) and it is often hard to diagnose one from the other. Is this true? Can someone have both of these disorders?
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Those are two very different things. Asperger's syndrome is a pervasive developmental disorder. Bipolar disorder (also known as manic depression) is a mental illness.

Someone with Asperger's syndrome is "socially blind". They struggle with social interactions, they are socially awkward, cannot read or use body language or facial expressions well, have difficulty making eye contact, may not understand sarcasm, jokes or politeness and tend to take things literally, may display socially inappropriate behavior without realizing it, may lack empathy, have obsessive interests and may have problems such as sensory issues and poor motor skills.

Someone with bipolar disorder has extreme emotional ups and downs. One day they may feel so depressed that they can't get out of bed or do simple daily things. The next day they may feel great and be full of energy and feel like they can do anything.

It is not hard to diagnose one from the other. They are not really similar. Someone with Asperger's syndrome may throw tantrums or have meltdowns, which I suppose can seem similar to when a bipolar person goes from an extreme up to an extreme down, but everything else is very different.  (+ info)

What is the best pill to take if you have polycystic ovary syndrome or any other treatments?


I am 21 and have had polycystic ovary syndrome for awhile now .
being on yasmin and now have change to norimin and now trying a Progesterone cream to regulate my periods but nothing has worked as yet and making my body gain weight and I hardly eat
please help?
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I have PCOS and I have an IUD, Mirena to be specific. I haven't have a period in 3 years, which helps with my symptoms. Maybe a pill like seasonale where you get a period 4 times a year. Are you on metformin? That can help deal with the weight issues. I suggest seeing an endocrinologist for your PCOS because they are generally more knowledgeable than a GP or OBGYN.  (+ info)

What does these results mean when tested for down syndrome?


My doctor calls my cell phone to give me the results of the down syndrome & T18 tests i did. All he leaves in the message is that as for down syndrome my risk is 1:4800 and for T18 it's 1:10,000 but i have no idea what that means!!! HELP!!
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means your baby is very very very very unlikely to have downs syndrome..so all good news..☺..congratulations..  (+ info)

What happens to people with down syndrome when they get old?


I wanted to know what happens to people with down syndrome when they get older. if their parents die, do they take care of themselves or do they get sent to an institution?
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Hello to all,
Thank you for asking this important question.
I appreciate the different answers that have been given by other members, however, I feel they are really not up to date. I would like to share more current information with you.
I am the Executive Director of the Denver Adult Down Syndrome Clinic. We see 50-60 adolescents and adults with Down syndrome in the Clinic each year. We also hold post- secondary adult education classes called ALIVE! (Ability Life skills Vitality Education!) for adults with Down syndrome year round. More than 40 students have participated in the ALIVE! Program since it began 2 years ago.
In my role overseeing both of these programs, I have met many adults with Down syndrome, and their families and care takers. I have also had the privilege of working with Dr. Barry Martin, the Clinic's Medical Director, and Heather Luehrs, our Clinical Social Worker. Through this hands on experience, as well as keeping up with medical and psychosocial literature, the "facts of life" for adults with Down syndrome have changed dramatically over the past twenty years, and continue to improve.
For example, the average life expectancy for adults with Down syndrome has reached beyond the mid fifties. This is due in large part to improved medical advances for all persons during that same time. Thankfully, it is no longer acceptable medical practice to "not treat or neglect" persons with developmental disabilities as it was many years ago. These health advantages, coupled with the public school educational system changes during the same time period (IDEA) has had a tremendous positive affect on both the longevity and quality of life for adults with Down syndrome today.
Now the challenge is that there needs to be adequate resources put in place to support this “new” generation of healthy, talented adults. This will mean that families and friends of persons with Down syndrome can do a great service to their cause by becoming “ambassadors” of the truth by providing people they talk to, or anyone in the general public, accurate, up-to-date, information on the “new” facts of life. Opening minds will lead to opening doors and resources. Changing opinions and perspectives is one of the most powerful ways to make strides in this process.
Today, many adults with Down syndrome are working, volunteer, living independently, or, semi-independently, very successfully. For example, several of our ALIVE! students use the city mass transit system to come and go to the classes held on DU's campus each week. They also ride the bus to and from their place of work. One of our student s drives a car. A few of our students have gone off to college in New Mexico, all on their own! The possibilities are really endless. Just as with any one, you need to assess each person’s gifts and talents and help to support them with a wide range of opportunities. The more we can educate and promote this information, the more doors will open, and who knows what the future will hold.
I also work with patients in the Clinic. They range form age 14 and up. The activity level and independent living skills vary, of course, but many enjoy life in their own apartments, or share their apartment/home with a roommate.
The choice of whether the family decides to have their child move out or live at home is made individually, considering many factors. It is true that adults with Down syndrome that continue to live in their parents home, will over time, have older caretakers. That is why it is really important for the families to think about, and plan ahead for the future, so that both the aging parents and the aging adult with Down syndrome each continue to enjoy a full life as each they age.
Many of the patients we take care of live with Host Home Providers. Usually the host home provider is younger than the adult's parents, and the parents or siblings remain actively involved in their loved ones lives. This arrangement affords the family a choice to extend the network of support needed for their loved one, while still having an active role in their lives, yet not being their sole responsibility. From my experience, it seems to be a very successful option.
As far as institutionalizing adults with Down syndrome, that is no longer done.
In closing, I would highly recommend reading a wonderful resource book called, Mental Wellness in Adults with Down syndrome, by Dennis McGuire, Ph.D & Brian Chicoine, M.D., both highly respected clinicians from the Chicago Area adult Down syndrome Clinic. The book gives a thorough overview of all aspects of wellness and health concerns that are more common for the adult Down syndrome population. It is a valuable resource for any family.  (+ info)

What is the difference between Asperger Syndrome and Asperger Disorder?


I was reading a book about people in history who could have AS. But the author says one person could have Asperger Disorder instead of Asperger Syndrome.
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Asperger disorder is another name for Asperger syndrome-they are one in the same:

Asperger syndrome ( also called Asperger's syndrome, Asperger's disorder, Asperger's or AS) is one of several autism spectrum disorders (ASD) characterized by difficulties in social interaction and by restricted, stereotyped interests and activities.
Hope this helps!!  (+ info)

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