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Re: [Families of Angelman Syndrome] My geneticist is running a FISH test.....

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  • Sarah Nichols
    ,Hello u are not wrong at all, our son Christian is now 5 and the genecitists ran all the tests and they all came back negative, so then he has clinically
    Message 1 of 13 , Oct 26, 2005
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      ,Hello
      u are not wrong at all, our son Christian is now 5 and the genecitists ran all the tests and they all came back negative, so then he has clinically diagnosed him with Angelman Syndrome , which we've waited for five years to find some sort of answer . Not that it changes anything with all the reasearch on Angelman Syndrome that we have done atleast we know in what direction we are going now with therapy and all. well if you have anymore questions we'd be happy to anwer the best we can Sarah & Brandon Nichols ,Christian our Angel age 5

      miss_priss_602 <priscillathorson@...> wrote:
      I know there are a few tests to run to check for Angelmans.. which one
      is usually done first? SHe said if this is negative no sense in running
      any other ones, is prolly not Angelmans then, but I beg to differ? Am I
      wrong?





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    • justannae kirby
      Some angels need blood test to determine if they in fact have AS. Junior, for one didn t. (---we re really relieved to that. You wouldn t believe the h*ll we
      Message 2 of 13 , Oct 27, 2005
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        Some angels need blood test to determine if they in fact have AS.
        Junior, for one didn't. (---we're really relieved to that. You
        wouldn't believe the h*ll we went through getting his baby shots
        accomplished!)
        Junior has every characteristic of these kids....then one time we went
        to the public clinic over at the University of Akron, just a general
        health check-up. I told the two interns that we suspected Junior had
        AS. They asked a bunch of questions, spun him around on the stool,
        checking him out, then asked me if I minded if their head of the
        department came in to take a look at him.....i said- ok. They then
        each wrote something on index cards and left. A few minutes later,
        this fellow came in, we had a little chit-chat, and then he felt
        behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
        BEHIND HIS EARS? Then this guy asked why these two interns called him
        downstairs...this was a clear case of AS if there ever was one...the
        interns showed this guy what they had written on their
        cards...ANGELMAN SYNDROME......so check behind your angel's ears....is
        there a bulge in the skulll? Why our angels have this bulge is
        anybody's guess...but apparently it means- something.
      • Monica Yalan Chang
        Hi, May I ask you, are all the AS kids have this bulge behind their ears? Because my daughter hasnt it. justannae kirby wrote: Some
        Message 3 of 13 , Oct 27, 2005
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          Hi,
          May I ask you, are all the AS kids have this bulge behind their ears? Because my daughter hasnt it.

          justannae kirby <justannae@...> wrote:
          Some angels need blood test to determine if they in fact have AS.
          Junior, for one didn't. (---we're really relieved to that. You
          wouldn't believe the h*ll we went through getting his baby shots
          accomplished!)
          Junior has every characteristic of these kids....then one time we went
          to the public clinic over at the University of Akron, just a general
          health check-up. I told the two interns that we suspected Junior had
          AS. They asked a bunch of questions, spun him around on the stool,
          checking him out, then asked me if I minded if their head of the
          department came in to take a look at him.....i said- ok. They then
          each wrote something on index cards and left. A few minutes later,
          this fellow came in, we had a little chit-chat, and then he felt
          behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
          BEHIND HIS EARS? Then this guy asked why these two interns called him
          downstairs...this was a clear case of AS if there ever was one...the
          interns showed this guy what they had written on their
          cards...ANGELMAN SYNDROME......so check behind your angel's ears....is
          there a bulge in the skulll? Why our angels have this bulge is
          anybody's guess...but apparently it means- something.







          Yahoo! Groups Links








          Monica Yalan Chang


          [Non-text portions of this message have been removed]
        • Sarah Nichols
          hello,our son has AS but he doesnt have a bulge behind his ear either but who knows we re not experts hes just been recently clinically diagnosed with AS
          Message 4 of 13 , Oct 27, 2005
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            hello,our son has AS but he doesnt have a bulge behind his ear either but who knows we're not experts hes just been recently clinically diagnosed with AS theres so still so much out there to learn though, hopefully this answers your question -Sarah nichols mother of Christian age 5

            Monica Yalan Chang <piopio9@...> wrote:Hi,
            May I ask you, are all the AS kids have this bulge behind their ears? Because my daughter hasnt it.

            justannae kirby <justannae@...> wrote:
            Some angels need blood test to determine if they in fact have AS.
            Junior, for one didn't. (---we're really relieved to that. You
            wouldn't believe the h*ll we went through getting his baby shots
            accomplished!)
            Junior has every characteristic of these kids....then one time we went
            to the public clinic over at the University of Akron, just a general
            health check-up. I told the two interns that we suspected Junior had
            AS. They asked a bunch of questions, spun him around on the stool,
            checking him out, then asked me if I minded if their head of the
            department came in to take a look at him.....i said- ok. They then
            each wrote something on index cards and left. A few minutes later,
            this fellow came in, we had a little chit-chat, and then he felt
            behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
            BEHIND HIS EARS? Then this guy asked why these two interns called him
            downstairs...this was a clear case of AS if there ever was one...the
            interns showed this guy what they had written on their
            cards...ANGELMAN SYNDROME......so check behind your angel's ears....is
            there a bulge in the skulll? Why our angels have this bulge is
            anybody's guess...but apparently it means- something.







            Yahoo! Groups Links








            Monica Yalan Chang


            [Non-text portions of this message have been removed]



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          • Justannae Kirby
            I m a little curious as to how many kids have it and how many don t, too. I wonder if there s a way we could run a consensus here in the group.
            Message 5 of 13 , Oct 28, 2005
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              I'm a little curious as to how many kids have it and
              how many don't, too.
              I wonder if there's a way we could run a consensus
              here in the group.





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            • Justannae Kirby
              Another thing, too...Junior was about 12 or so when this happened...so I wonder if these bulges don t show up until the kids are older. A little kids bones are
              Message 6 of 13 , Oct 28, 2005
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                Another thing, too...Junior was about 12 or so when
                this happened...so I wonder if these bulges don't show
                up until the kids are older. A little kids bones are
                much softer and the plates in their skull aren't as
                hard either....maybe it all comes with age.?.?.?





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              • JoAnn Sotelo
                hi, i have a little angel that is 5years old and she went through a genitic testing and her results came out negative, so how do they diagnose a child with
                Message 7 of 13 , Oct 30, 2005
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                  hi, i have a little angel that is 5years old and she went through a genitic testing and her results came out negative, so how do they diagnose a child with AS if the tests are negative?
                  jo

                  Sarah Nichols <angelsmomma3@...> wrote:
                  ,Hello
                  u are not wrong at all, our son Christian is now 5 and the genecitists ran all the tests and they all came back negative, so then he has clinically diagnosed him with Angelman Syndrome , which we've waited for five years to find some sort of answer . Not that it changes anything with all the reasearch on Angelman Syndrome that we have done atleast we know in what direction we are going now with therapy and all. well if you have anymore questions we'd be happy to anwer the best we can Sarah & Brandon Nichols ,Christian our Angel age 5

                  miss_priss_602 <priscillathorson@...> wrote:
                  I know there are a few tests to run to check for Angelmans.. which one
                  is usually done first? SHe said if this is negative no sense in running
                  any other ones, is prolly not Angelmans then, but I beg to differ? Am I
                  wrong?





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                • Jennifer Posey
                  Hello everyone My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn t been sleeping well at all. He has never
                  Message 8 of 13 , Oct 31, 2005
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                    Hello everyone

                    My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn't been sleeping well at all. He has never really napped even when he was a baby. I thought it was the coolest thing most newborns only sleep eat and poop. Not my Christopher he would stay awake most of the day, and occasionally would take short 30 minute naps. But he would go to bed at night around 8 o'clock and would sleep until 6 or 7 in the morning, but he would wake every 3 hours to eat. For the past few weeks he fights going to sleep at night so he goes to bed around 10 and hes been waking up anywhere from 2 in the morning to 6 o'clock in the morning. Hes been getting very cranky in the day and he won't take naps so when he sleeps like that its just sleep lost for him. He hasn't been eating well at all, he always fights me to eat but if I push he would usually give in and eat okay. Does anyone know if there is a medicine to increase his appetite? And is there anything to
                    help him sleep? Justannae I love all of your posts if every special needs child had a parent like you there wouldn't be all these children slipping through the cracks. I just think your great.

                    Jennifer

                    Justannae Kirby <justannae@...> wrote:
                    I'm a little curious as to how many kids have it and
                    how many don't, too.
                    I wonder if there's a way we could run a consensus
                    here in the group.





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                  • Jennifer Posey
                    Hello I also forgot to add that he has really been aggressive since all this and I was wondering if any of you guys have had this and if you have what can I
                    Message 9 of 13 , Oct 31, 2005
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                      Hello I also forgot to add that he has really been aggressive since all this and I was wondering if any of you guys have had this and if you have what can I do about it, because my daughter is 19 months old and is picking up on his bad behavior and thinks its okay to slap and pull hair when she doesn't get her way Please help me!

                      Jennifer

                      Jennifer Posey <jposey83@...> wrote:
                      Hello everyone

                      My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn't been sleeping well at all. He has never really napped even when he was a baby. I thought it was the coolest thing most newborns only sleep eat and poop. Not my Christopher he would stay awake most of the day, and occasionally would take short 30 minute naps. But he would go to bed at night around 8 o'clock and would sleep until 6 or 7 in the morning, but he would wake every 3 hours to eat. For the past few weeks he fights going to sleep at night so he goes to bed around 10 and hes been waking up anywhere from 2 in the morning to 6 o'clock in the morning. Hes been getting very cranky in the day and he won't take naps so when he sleeps like that its just sleep lost for him. He hasn't been eating well at all, he always fights me to eat but if I push he would usually give in and eat okay. Does anyone know if there is a medicine to increase his appetite? And is there anything to
                      help him sleep? Justannae I love all of your posts if every special needs child had a parent like you there wouldn't be all these children slipping through the cracks. I just think your great.

                      Jennifer

                      Justannae Kirby <justannae@...> wrote:
                      I'm a little curious as to how many kids have it and
                      how many don't, too.
                      I wonder if there's a way we could run a consensus
                      here in the group.





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                    • Sarah Nichols
                      hello, my angel is Christian now five and recently diagnosed with AS we had the same trouble with gettin him to sleep, our developmental doctor put him on
                      Message 10 of 13 , Oct 31, 2005
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                        hello, my angel is Christian now five and recently diagnosed with AS we had the same trouble with gettin him to sleep, our developmental doctor put him on melatonin its actually over the counter in the vitamin section its all natural.we couldnt believe how well it actually worked its wonderful after we give it to him we turn the lights off and hes asleep within 20 mins yeah really!! Well for the eating thing he is the same way most of the time we'll get him to eat a big breakfast and thats usually all we can get him to eat his meds have alot to do with his appetite sorry i couldnt be of any help with that. Hope your day is good! Sarah Nichols

                        Jennifer Posey <jposey83@...> wrote:Hello everyone

                        My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn't been sleeping well at all. He has never really napped even when he was a baby. I thought it was the coolest thing most newborns only sleep eat and poop. Not my Christopher he would stay awake most of the day, and occasionally would take short 30 minute naps. But he would go to bed at night around 8 o'clock and would sleep until 6 or 7 in the morning, but he would wake every 3 hours to eat. For the past few weeks he fights going to sleep at night so he goes to bed around 10 and hes been waking up anywhere from 2 in the morning to 6 o'clock in the morning. Hes been getting very cranky in the day and he won't take naps so when he sleeps like that its just sleep lost for him. He hasn't been eating well at all, he always fights me to eat but if I push he would usually give in and eat okay. Does anyone know if there is a medicine to increase his appetite? And is there anything to
                        help him sleep? Justannae I love all of your posts if every special needs child had a parent like you there wouldn't be all these children slipping through the cracks. I just think your great.

                        Jennifer

                        Justannae Kirby <justannae@...> wrote:
                        I'm a little curious as to how many kids have it and
                        how many don't, too.
                        I wonder if there's a way we could run a consensus
                        here in the group.





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                      • ettinashee
                        It s called clinical diagnosis. It s kind of like how they diagnose autism, ADHD, etc - if the kid has enough traits typical of Angelman Syndrome they get
                        Message 11 of 13 , Nov 3, 2005
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                          It's called clinical diagnosis. It's kind of like how they diagnose
                          autism, ADHD, etc - if the kid has enough traits typical of Angelman
                          Syndrome they get diagnosed. At
                          http://www.angelman.org/angel/index.php?id=75 they have the
                          criteria, which are:

                          A summary of the developmental and physical findings has been
                          published for the purpose of establishing clinical criteria for the
                          diagnosis and these are listed below. 10 All of the features do not
                          need to be present for the diagnosis to be made and the diagnosis is
                          often first suspected when the typical behaviors are recognized.

                          Developmental History and Laboratory Findings
                          Normal prenatal and birth history with normal head circumference;
                          absence of major birth defects
                          Developmental delay evident by 6 - 12 months of age
                          Delayed but forward progression of development (no loss of skills)
                          Normal metabolic, hematologic and chemical laboratory profiles
                          Structurally normal brain using MRI or CT (may have mild cortical
                          atrophy or dysmyelination)

                          Clinical Features in Angelman Syndrome
                          Consistent (100%)
                          Developmental delay, functionally severe
                          Speech impairment, none or minimal use of words; receptive and non-
                          verbal communication skills higher than verbal ones
                          Movement or balance disorder, usually ataxia of gait and/or
                          tremulous movement of limbs
                          Behavioral uniqueness: any combination of frequent laughter/smiling;
                          apparent happy demeanor; easily excitable personality, often with
                          hand flapping movements; hypermotoric behavior; short attention span

                          Frequent (more than 80%)
                          Delayed, disproportionate growth in head circumference, usually
                          resulting in microcephaly (absolute or relative) by age 2
                          Seizures, onset usually < 3 years of age
                          Abnormal EEG, characteristic pattern with large amplitude slow-spike
                          waves

                          Associated (20 - 80%)
                          Strabismus
                          Hypopigmented skin and eyes
                          Tongue thrusting; suck/swallowing disorders
                          Hyperactive tendon reflexes
                          Feeding problems during infancy
                          Uplifted, flexed arms during walking
                          Prominent mandible
                          Increased sensitivity to heat
                          Wide mouth, wide-spaced teeth
                          Sleep disturbance
                          Frequent drooling, protruding tongue
                          Attraction to/fascination with water
                          Excessive chewing/mouthing behaviors
                          Flat back of head

                          Hope that clarifies it.
                          Ettina
                          --- In familiesofangelmansyndrome@yahoogroups.com, JoAnn Sotelo
                          <jonnlo2004@y...> wrote:
                          >
                          > hi, i have a little angel that is 5years old and she went through
                          a genitic testing and her results came out negative, so how do
                          they diagnose a child with AS if the tests are negative?
                          > jo
                          >
                          > Sarah Nichols <angelsmomma3@y...> wrote:
                          > ,Hello
                          > u are not wrong at all, our son Christian is now 5 and the
                          genecitists ran all the tests and they all came back negative, so
                          then he has clinically diagnosed him with Angelman Syndrome , which
                          we've waited for five years to find some sort of answer . Not that
                          it changes anything with all the reasearch on Angelman Syndrome that
                          we have done atleast we know in what direction we are going now with
                          therapy and all. well if you have anymore questions we'd be happy to
                          anwer the best we can Sarah & Brandon Nichols ,Christian our Angel
                          age 5
                          >
                          > miss_priss_602 <priscillathorson@h...> wrote:
                          > I know there are a few tests to run to check for Angelmans.. which
                          one
                          > is usually done first? SHe said if this is negative no sense in
                          running
                          > any other ones, is prolly not Angelmans then, but I beg to differ?
                          Am I
                          > wrong?
                          >
                          >
                          >
                          >
                          >
                          > SPONSORED LINKS
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                          >
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                          >
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                          >
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                          > [Non-text portions of this message have been removed]
                          >
                        • ettinashee
                          Maybe he was just trying to gauge how big Junior s head is? I know a small head is common in Angelman Syndrome. Ettina ... went ... general ... had ... him ...
                          Message 12 of 13 , Nov 3, 2005
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                            Maybe he was just trying to gauge how big Junior's head is? I know a
                            small head is common in Angelman Syndrome.
                            Ettina
                            --- In familiesofangelmansyndrome@yahoogroups.com, "justannae kirby"
                            <justannae@y...> wrote:
                            >
                            > Some angels need blood test to determine if they in fact have AS.
                            > Junior, for one didn't. (---we're really relieved to that. You
                            > wouldn't believe the h*ll we went through getting his baby shots
                            > accomplished!)
                            > Junior has every characteristic of these kids....then one time we
                            went
                            > to the public clinic over at the University of Akron, just a
                            general
                            > health check-up. I told the two interns that we suspected Junior
                            had
                            > AS. They asked a bunch of questions, spun him around on the stool,
                            > checking him out, then asked me if I minded if their head of the
                            > department came in to take a look at him.....i said- ok. They then
                            > each wrote something on index cards and left. A few minutes later,
                            > this fellow came in, we had a little chit-chat, and then he felt
                            > behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
                            > BEHIND HIS EARS? Then this guy asked why these two interns called
                            him
                            > downstairs...this was a clear case of AS if there ever was
                            one...the
                            > interns showed this guy what they had written on their
                            > cards...ANGELMAN SYNDROME......so check behind your angel's
                            ears....is
                            > there a bulge in the skulll? Why our angels have this bulge is
                            > anybody's guess...but apparently it means- something.
                            >
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