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#10376 - 01/16/05 07:43 PM X-linked ichthyosis and mental retardation
annew Offline
Member

Registered: 01/16/05
Posts: 5
Loc: Vancouver, BC, Canada
Hi everyone,

I've been reading a number of postings that suggest that x-linked ichthyosis and learning disabilities or mental retardation are probably not connected. The genetic counsellors I'm seeing right now seem to be split on this.

I'm wondering if anyone has faced the same issues as my family. My grandmother, mother, and I are all carriers. My uncle has x-linked ichthosis and also appears to have had learning disabilities throughout his life. I had a brother who was born with x-linked ichthyosis, microcephaly (very small brain), cataracts, seizures, and severe growth development. He only lived to the age of 6.

One doctor suggests that my brothers condition could be caused by a deletion of multiple genes. He listed Kallmann syndrome, although Rud syndrome (which I found information about online) also appears to cover his condition.

I am so frustrated. The doctors seem to switch between thinking that my brothers condition was just a strange coincidence and that it is directly related to the x-linked ichthyosis. Can anyone help me? Has anyone else seen this type of condition in their family?

Thank you for your help.

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#10377 - 01/17/05 09:01 PM Re: X-linked ichthyosis and mental retardation
charmed7 Offline
Member

Registered: 03/07/04
Posts: 165
Loc: Hartford, CT
I wanted to post that my 6 year old has x-link and does not seem to have any mental complications. He may have some behaviorial, but nothing that couldn't just be passed off as a 6 year old boy with energy. I was just thinking this may dis-prove the doctors theories that the x-link CAUSES other disabilities.
_________________________
I have a gifted 14 year old boy with X-Link Ichthyosis, Type I Diabetes and Bipolor Disorder.
I have a 7 year old girl who is uncanningly healthy
I have a spunky 1 year old who doesn't quite understand the word "No" yet.

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#10378 - 02/18/05 10:13 PM Re: X-linked ichthyosis and mental retardation
gail Offline
Member

Registered: 02/12/05
Posts: 18
Loc: england
Hi I have two children both of them have mental retardation and XLI,
my son who is 9 has autism tourettes and ADHD, and my 7 year old has autism and ADHD.
I am in no dout that it is all linked.
From gail

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#10379 - 02/22/05 12:08 AM Re: X-linked ichthyosis and mental retardation
gail Offline
Member

Registered: 02/12/05
Posts: 18
Loc: england
Hi charmed 7, I do think it is part of the XLI I think it all depends on how large the deletion is in our case it's big.
and the boys are still being looked after by their doctors.
My eldest has autism has mental age of a 2 year old and still in nappys, dos'nt talk or eat solid food.
thank,s for your advice.
Gail

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#10380 - 03/02/05 06:06 AM Re: X-linked ichthyosis and mental retardation
annew Offline
Member

Registered: 01/16/05
Posts: 5
Loc: Vancouver, BC, Canada
Gail - Thanks for your reply. I think that we must be dealing with similar issues. The original genetic counsellor looking into my brother's case did suggest that the size of the deletion around the xli could have been the major cause of all his other issues. Unfortunately, my brother passed away in 1983 - long before genetic testing really took place. Therefore, they can't look at his x chromosone to assess the size of deletion. Were they able to test your sons' DNA to see the deletion size?

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#10381 - 03/03/05 08:03 PM Re: X-linked ichthyosis and mental retardation
gail Offline
Member

Registered: 02/12/05
Posts: 18
Loc: england
Hi annew thanks for your reply, yes the boys and my brother hve been tested and they all have the same large deletion and all have the same probs! but diffrent degrees. And Iam so glad there is a site like this, its interesting reading everybodies storys, and meeting new people.
thanks.
Gail

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#10382 - 09/10/05 07:31 PM Re: X-linked ichthyosis and mental retardation
johnneyvianney Offline
Junior Member

Registered: 09/10/05
Posts: 1
Loc: Coeur d Alene , Id USA
My whole family has XLI and I also have a brother who has downsindrom, he also has XLI and it is way worse in him than any of us. I think it is all linked. It kinda cool to find this site and see that others have had the same experience with XLI as we have...

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#10383 - 09/10/05 09:09 PM Re: X-linked ichthyosis and mental retardation
LauraAnn Offline
Member

Registered: 04/01/04
Posts: 220
Loc: Chicago, IL, USA
Both of my boys are rxli, 6yrs and 20mos.
My 6 year old was developmentally delayed and in physical and occupational therapy for 6 months when he was over a year old. He would not roll over or onto his tummy, never crawled and then just scooted sitting up, never pulled up, etc. The physical therapy got him over this, but I still see some issues that he may deal with all his life (extremely sensitive with regards to bright light, loud noise, textures, etc.) I think his skin just feels a lot of things intensely. Although, I guess we could attribute some of it to personality. My younger son, has seemed to have no developmental difficulties, and his scaling is more severe and noticeable than my older boy's. I am not very knowledgeable on all of this "deletion" stuff, but I just wanted to share our experience if it helps any.....
LauraAnn
_________________________
- - - - - - - - -
*Laura
Mom to: Joshua (9yrs) and Matthew (4yrs) both affected with recessive x-linked ichthyosis

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#10384 - 09/11/05 08:20 PM Re: X-linked ichthyosis and mental retardation
jrmiss86 Offline
Member

Registered: 06/07/05
Posts: 378
Loc: Marlton, NJ, USA
I just saw your post, and it jumped out at me. I have a 7 month old son who has x-linked and kallmans syndrome. both deletions are right next to each other on the gene and I am told often occur together, especially if the child has kallmans, then he most often has x-linked. My two younger brothers also have both deletions and both have ADHD which is suspected to be related to the kallmans syndrome.
_________________________
Heather
Mom to:
Alex (xli and Kallmans - 2/3/05)
Liz (3/16/07)

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