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New member - is genetic testing useful?

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  • Dave Adams
    I am a new member with an autistic son. A local geneticist has been recommending to parents with autistic kids that they be tested for mecp2 (Rett syndrome),
    Message 1 of 3 , Nov 4, 2002
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      I am a new member with an autistic son. A local geneticist has been
      recommending to parents with autistic kids that they be tested for
      mecp2 (Rett syndrome), 22q11.2, FISH studies of chromosone tips and
      mpcr studies of 15q (Angelman's syndrome). I have heard that he
      recommends these tests because the listed genetics defects have been
      found in some autistic kids. We have an appointment soon and I am
      trying to prepare beforehand.

      I have searched the archives of autism lists at yahoogroups and from
      what I could find, some of the gene defects listed above are not
      specific to any one disorder. Also, what the genes above are
      responsible for in the body is not known. I was wondering if the
      above testing will provide useful information in our case? Does
      knowing a person has one of the genetic defects above give direction
      to therapies or anything else useful? Thanks.

      Dave
    • angelmum01
      Dave, My daughter is Clinically Diagnosed with Angelman Syndrome. For us, that makes not difference in how we work with her. She is high functioning and is
      Message 2 of 3 , Nov 5, 2002
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        Dave,

        My daughter is Clinically Diagnosed with Angelman Syndrome. For us,
        that makes not difference in how we work with her. She is high
        functioning and is learning more everyday. I think the Dx gave her a
        label and that label gave her a few services that she may not have
        gotten otherwise.
        From my experience, that clinical dx didn't change Jessie and she
        would be the same regardless.
        Now if there was gene therapy, that would be a different story.
        Isolating the gene would make a difference.

        Good Luck in your quest,

        Winna
      • rocketwatts2003 <rocketwatts2003@yahoo.c
        A formal diagnosis has been a blessing for us. It helps us procure services, allows us to get access to specific info and support groups, has gotten us
        Message 3 of 3 , Feb 18, 2003
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          A formal diagnosis has been a blessing for us. It helps us procure
          services, allows us to get access to specific info and support
          groups, has gotten us publicity that has helped pay for thereapy, and
          has given us a mental handhold. I recommend getting as detailed a
          genetic dx as possible. You never know: someday specific thereapies
          might be available, and I imagine already having the dx could save
          valuable time.

          --- In familiesofangelmansyndrome@yahoogroups.com, "Dave Adams"
          <adamsdp@c...> wrote:
          > I am a new member with an autistic son. A local geneticist has
          been
          > recommending to parents with autistic kids that they be tested for
          > mecp2 (Rett syndrome), 22q11.2, FISH studies of chromosone tips and
          > mpcr studies of 15q (Angelman's syndrome). I have heard that he
          > recommends these tests because the listed genetics defects have
          been
          > found in some autistic kids. We have an appointment soon and I am
          > trying to prepare beforehand.
          >
          > I have searched the archives of autism lists at yahoogroups and
          from
          > what I could find, some of the gene defects listed above are not
          > specific to any one disorder. Also, what the genes above are
          > responsible for in the body is not known. I was wondering if the
          > above testing will provide useful information in our case? Does
          > knowing a person has one of the genetic defects above give
          direction
          > to therapies or anything else useful? Thanks.
          >
          > Dave
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