duplications and learning issues
I recently read that learning issues tend to pop up when the mutation is after the center of the gene. It the gene is 79 exons long - then the middle would be around 39. Could you parents with sons with duplication mutations give me an idea about if your son has any learning issues, what they are, what you have done to help him and where your particular son's mutation is.
I will start. Will is age 7. Smart boy - but has focus or attention issues, slower responsive speech, very good vocabulary, memorizes things well, spatial skills good, knows alphabet, sounds letters make, knows and learned 120 sight words. sounds words out - sometimes. Has trouble with adjusting to changes - transitions - gets locked into something and does not want to stop. Duplication 54-57. Dr. has prescribed low dosage of SSRI to help with inflexibility, melt downs...Anyone heard of that? Char Burke
I will start. Will is age 7. Smart boy - but has focus or attention issues, slower responsive speech, very good vocabulary, memorizes things well, spatial skills good, knows alphabet, sounds letters make, knows and learned 120 sight words. sounds words out - sometimes. Has trouble with adjusting to changes - transitions - gets locked into something and does not want to stop. Duplication 54-57. Dr. has prescribed low dosage of SSRI to help with inflexibility, melt downs...Anyone heard of that? Char Burke
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Permalink Reply by KellyR on
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Aidan is 6. We have been told by his teachers that he is very, very intelligent. He doesn't have any S&L concerns and has always been advanced in this area since he was very young. He has an extraordinary memory and is advanced for his age in reading, but does not like to sound out words - rather he reads them 'whole' or not at all. He is very shy but once he gets to know people/new teachers etc he comes out of his shell! He does not like the unknown eg. will fret about going to, say, a new shopping centre, but I think this just boils down to his physical capabilities. He doesn't seem to have any associated learning difficulties or behavioural problems, none that so far have been identified anyway, that can be linked to dmd, although his steroids have 'de-matured' him slightly, he is less patient since starting steroids, and has developed a new angry voice! He has a duplication of exons 8 & 9.
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