Discussions By Condition: I cannot get a diagnosis.

Muteness in 3 brothers of various ages...

Posted In: I cannot get a diagnosis. 11 Replies
  • Posted By: Anonymous
  • February 13, 2008
  • 00:29 PM

I'm posting here out of sheer curiosity so first I must appologise to everybody around here who is suffering from something themselves!

I am from a little place called Romania where access to healthcare is rather scarce and poor. In the bloc where I live there is a family of 5: parents in their late 30s, a 15 or so years old boy, another that's about 8 and a younger sister of about 5. They are all MUTE. As far as I can tell they aren't mentally retarded (at least the older one, that I sometimes run into, is not) and seem healthy in rest. The younger ones do seem very agitated sometimes. I am suspecting they are not 100% deff because sometimes when I walk past their flat I can here the TV turned on very loudly on some cartoon program. Parents seem ok and healthy although they are a bit on the grim side and not very friendly. I kind of understand them but this is the reason why I never had the courage to inquire them about their situation, even as a doctor in my country. A very young one. I also lack knwoledge of weather this is congenital or acquired. Still there remains a strong common denominator on which I am basing my search: 3 brothers all mute!

I am not looking for a definite solution but more for a differential diagnosis debate. What could it be? Can it be cured/treated? I rulled out Congenital Rubella Syndrome since the condition is present on all 3 children and they have at least 3 years in age difference. It's not Down nor they have a genetic syndrome that associates albinism. What type of a genetic syndrome would have 100% detemination among the children since both parents are, at best, heterozigots ? Could it be toxic... somehow? Could they all have the very same neurological lesions? Some other infectious disease of the mother ? What do you think would be most likely? What other information could I get and would be useful... from afar?

Thank you!

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11 Replies:

  • Could it possibly be autism, or something in the autism spectrum? Do the kids have repetitive behaviors or fixation on things like water or repetitive movements?We don't know what causes autism. It might be neuro-immunological, but they aren't sure yet. It does seem to run in families, though. I don't know if they have determined the genes involved or patterns of inheritance, though.Perhaps you could Google it and find a reputable site with more information.It could probably be other things as well. This family is very lucky to have such a caring neighbor!Good Luck
    Anonymous 42,789 Replies
    • February 13, 2008
    • 10:24 PM
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  • They really aren't since I am unable to help them in any way.Still... I'm pretty sure it's NOT autism as I have been able to somewhat communicate with, at least, the oldest of the children. He can lip read! I also have seen him help his father do stuff and even shop for grocery on his own.Thank you anyway!All ideas are welcome!
    Anonymous 42,789 Replies
    • February 13, 2008
    • 11:02 PM
    • 0
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  • No autism! No repetitive behaviour of any kind, at least in the older of the kids. I've acctually been able to communicate with him as I have seen he can lip read. He's ok on his own out on the streets and seems perfectly normal in every other way.Still, thanks for the ideas, they are all welcome!
    Anonymous 42,789 Replies
    • February 14, 2008
    • 01:36 PM
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  • Do they look withdrawn? Is it possible they are living in an unhappy home situation or are being abused?Just a thought. Not sure if it applies.
    Anonymous 42,789 Replies
    • February 15, 2008
    • 05:31 AM
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  • This points to a genetic cause: http://jnnp.bmj.com/cgi/content/extract/67/6/830
    aquila 1,263 Replies
    • February 15, 2008
    • 02:28 PM
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  • This is obviously something that you cannot ask the family but there has been found a connection between mutism and inbreeding.
    Anonymous 42,789 Replies
    • February 15, 2008
    • 03:30 PM
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  • This is something an ear specialist would need to evaluate. It is possible that with surgery it could be corrected, but we can't look inside their little ears to evaluate what is going on. It could be that they were all prone to ear infections and due to the infections, they loss part of their hearing. With either surgery or hearing aides, they should be able to lead a normal type of life, but without help and ignoring the situation, they will fall farther and farther behind in school. Their speech will suffer, along with their education. The parents need to see how their children will function as adults if nothing is done.
    Monsterlove 2,921 Replies
    • February 15, 2008
    • 08:19 PM
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  • After almost graduating med school in this messed up country of mine, I finally think I got it !!! what is most likely the children's condition is called ENDEMIC CRETINISM due to iodine deficiency. Some parts of Europe are endemic to hypothiroidism due to iodine deficiency and I was able to figure out from spotting their familly's car plates that they are originally from such a zone in Romania, around the Carpathian Mountains. One of the forms of this endemic cretinism is the neurological form, which can, in some cases manifest itself solely by hypoacusia/deafness and disartria/muteness. Unfortunately this conditon, present at birth, althoug easily prevented, is untreatable since the neurological damage and the damage of the Corti's organ are irreversible :( Ignorant people, idiot doctors, stupid country! I'm also most skeptic towards the future integration of these kids since social services are below zero here.Anyway I would like to thank everybody who has posted here, you've been most helpful!
    Anonymous 42,789 Replies
    • August 24, 2008
    • 08:14 PM
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  • thanks for replying back as i found this interesting.... Maybe you could be of some help to some of the others here if you have some spare time....
    taniaaust1 2,267 Replies
    • August 25, 2008
    • 06:27 AM
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  • Prevention of endemic goiter is extremely cheap and easy to accomplish. It's also very important to do as it is a major health problem in some parts of Europe.I, for one, can't really do much since I'm not even a licenced medic yet nor do I think I'm going to be a GP. Still I try my best, but... how do you mean ?
    Anonymous 42,789 Replies
    • August 25, 2008
    • 07:40 PM
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  • Prevention of endemic goiter is extremely cheap and easy to accomplish. It's also very important to do as it is a major health problem in some parts of Europe. I, for one, can't really do much since I'm not even a licenced medic yet nor do I think I'm going to be a GP. Still I try my best, but... how do you mean ? I mean via suggestions of possible diagnoses seeing you've had some medical training.
    taniaaust1 2,267 Replies
    • August 26, 2008
    • 06:55 AM
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