Chromosome anomolies and apraxia, autism, etc.?

[Guest guest]

I was wondering if any of your little ones that have apraxia or symptoms of

apraxia or are on the autism spectrum or exhibiting symptoms of ASD, have been

tested by a genetics doctor? My son is 3 1/2 and so many of the children being

described here have very similar symptoms to what he has. In February, he was

diagnosed with Chromosome 22q11.2 Duplication Syndrome. Only recently has a test

been available to find this duplication, but more and more children are being

diagnosed with it. It can be found through Microarray or FISH. My son was very

delayed in walking and can now walk through much therapy. He also has autistic

symptoms, Sensory Processing Disorder, hand flaps, spins, etc. He has a lot of

trouble getting words out. He tries very hard lately and the addition of NV and

fish oils a few months ago have really helped. His comprehension is through the

roof. We just got approved for a grant to pay for private speech therapy for him

since our insurance won't cover it so I am praying that this is the breakthrough

for him!

[Guest guest]

Josh has had genetic testing up to our wazoo (thank goodness Shriner's Hospital

picked up the tab on all of it!) - with nothing showing up.  We've even tried

searching for some more obscure genetic conditions like Jobert's Syndrome,

-Magenis Syndrome, etc. - nothing.

 

Sherry and Josh

From: <shannonstilwell@...>

Subject: [ ] Chromosome anomolies and apraxia, autism, etc.?

Date: Monday, October 11, 2010, 11:54 AM

 

I was wondering if any of your little ones that have apraxia or symptoms of

apraxia or are on the autism spectrum or exhibiting symptoms of ASD, have been

tested by a genetics doctor? My son is 3 1/2 and so many of the children being

described here have very similar symptoms to what he has. In February, he was

diagnosed with Chromosome 22q11.2 Duplication Syndrome. Only recently has a test

been available to find this duplication, but more and more children are being

diagnosed with it. It can be found through Microarray or FISH. My son was very

delayed in walking and can now walk through much therapy. He also has autistic

symptoms, Sensory Processing Disorder, hand flaps, spins, etc. He has a lot of

trouble getting words out. He tries very hard lately and the addition of NV and

fish oils a few months ago have really helped. His comprehension is through the

roof. We just got approved for a grant to pay for private speech therapy for him

since our insurance

won't cover it so I am praying that this is the breakthrough for him!

[Guest guest]

My 9yo daughter has severe apraxia but not autism. She has a deletion on

Chromosome 2. It was found when she was about 4yo. The basic genetics test done

at birth showed " normal " . It was the genetics doctors who found the deletion.

When we went last January, they took blood again to re-do the test since the

technology had advanced that much in four years that they wanted a better

picture of her deletion. They've also told me that he's seen a number of kids

with her type of deletion that have fairly severe speech issues. There is an

organization called Chromosome Disorder Outreach. Search on Google. Once you

register with them, they keep a database of each type of deletion or

duplication. once registered, they give you access to the CDO group where

you can find other parents with your type of chromosome issues and may be able

to compare more information. There area a few of us from here, over there too.

[Guest guest]

My son, Logan, has 16p11.2 Deletion Syndrome. He is 7 years old. He has autistic

tendencies but not Autism. He also has apraxia, developmental delay, chiari

malformation, reactive airway disease, bronchitis, sensory integration disorder

and hypotonia. He currently receives speech, physical and occupational therapy

through our local school system. -Jennie

________________________________

From: <shannonstilwell@...>

Sent: Mon, October 11, 2010 12:54:55 PM

Subject: [ ] Chromosome anomolies and apraxia, autism, etc.?

 

I was wondering if any of your little ones that have apraxia or symptoms of

apraxia or are on the autism spectrum or exhibiting symptoms of ASD, have been

tested by a genetics doctor? My son is 3 1/2 and so many of the children being

described here have very similar symptoms to what he has. In February, he was

diagnosed with Chromosome 22q11.2 Duplication Syndrome. Only recently has a test

been available to find this duplication, but more and more children are being

diagnosed with it. It can be found through Microarray or FISH. My son was very

delayed in walking and can now walk through much therapy. He also has autistic

symptoms, Sensory Processing Disorder, hand flaps, spins, etc. He has a lot of

trouble getting words out. He tries very hard lately and the addition of NV and

fish oils a few months ago have really helped. His comprehension is through the

roof. We just got approved for a grant to pay for private speech therapy for him

since our insurance won't cover it so I am praying that this is the breakthrough

for him!

[Guest guest]

Hi ,

My son is 3 1/2 years old and has a chromosome abnormality.

I found out when I was 18 weeks pregnant that my son was carrying a very small

marker chromosome and he is 50% mosaic. The piece is so small that they were not

able to determine exactly which chromosome it was duplicating. It is either

1,5,or 19. The mosaic means that only 50% of his cell makeup has the marker

chromosome.The other 50% are completely normal without the extra piece. We had

the fish study and a cord synthesis done while I was pregnant with him. They

told me while I was pregnant that he may have developmental delays as a result

or he may not have any effect. He looks completely normal. He understands

everything you tell him. His receptive skills are very good. He knows his

abc's,colors,shapes,numbers etc but he has been diagnosed with severe verbal

apraxia,moderate oral apraxia,sensory issues, he jumps alot and rubs his

fingers

together when he is excited about something.Little things like a fish tank,his

track etc. He has some delay in fine and gross motor skills but that is

almost caught up now. We received his diagnosis in July of 09. We have been in

speech,OT and PT since then. He barely had any words at the time. He was 30

months and had only 5 or  6 words and they weren't very clear. He is just now

starting to put 2 words together. We began the fish oils in July and that was

when we had a surge in speech and the sensory calming down. He still jumps but

can now tolerate a hair cut. We even took him to his first movie this weekend

and he did great.  His blood is in a genetic study at Emory University. We were

told it could take years to learn more. We have an appt with a geneticist at

Duke University to  see if they can provide us with any more info.

 

om: <shannonstilwell@...>

Sent: Mon, October 11, 2010 12:54:55 PM

Subject: [ ] Chromosome anomolies and apraxia, autism, etc.?

 

I was wondering if any of your little ones that have apraxia or symptoms of

apraxia or are on the autism spectrum or exhibiting symptoms of ASD, have been

tested by a genetics doctor? My son is 3 1/2 and so many of the children being

described here have very similar symptoms to what he has. In February, he was

diagnosed with Chromosome 22q11.2 Duplication Syndrome. Only recently has a test

been available to find this duplication, but more and more children are being

diagnosed with it. It can be found through Microarray or FISH. My son was very

delayed in walking and can now walk through much therapy. He also has autistic

symptoms, Sensory Processing Disorder, hand flaps, spins, etc. He has a lot of

trouble getting words out. He tries very hard lately and the addition of NV and

fish oils a few months ago have really helped. His comprehension is through the

roof. We just got approved for a grant to pay for private speech therapy for him

since our insurance won't cover it so I am praying that this is the breakthrough

for him!

[Guest guest]

My daughter has 22q11.2 deletion syndrome. She has very little understandable

speech but is trying so hard to talk in the last year. She has other minor

issues but the speech is by far her most severly affected area. Depending on

which person/professional I am talking to she may or may not be classifies as

apraxia. (Before we got the genetic diagnosis I was sure she was apraxic based

on all the info out there but no one would confirm it on paper). She is 5 and

in kindergarten and has come so far in the last year.

Tamara

>

> Hi ,

> My son is 3 1/2 years old and has a chromosome abnormality.

> I found out when I was 18 weeks pregnant that my son was carrying a very small

> marker chromosome and he is 50% mosaic. The piece is so small that they were

not

> able to determine exactly which chromosome it was duplicating. It is either

> 1,5,or 19. The mosaic means that only 50% of his cell makeup has the marker

> chromosome.The other 50% are completely normal without the extra piece. We

had

> the fish study and a cord synthesis done while I was pregnant with him. They

> told me while I was pregnant that he may have developmental delays as a result

> or he may not have any effect. He looks completely normal. He understands

> everything you tell him. His receptive skills are very good. He knows his

> abc's,colors,shapes,numbers etc but he has been diagnosed with severe verbal

> apraxia,moderate oral apraxia,sensory issues, he jumps alot and rubs his

fingers

> together when he is excited about something.Little things like a fish tank,his

> track etc. He has some delay in fine and gross motor skills but that is

> almost caught up now. We received his diagnosis in July of 09. We have been in

> speech,OT and PT since then. He barely had any words at the time. He was 30

> months and had only 5 or  6 words and they weren't very clear. He is just now

> starting to put 2 words together. We began the fish oils in July and that was

> when we had a surge in speech and the sensory calming down. He still jumps but

> can now tolerate a hair cut. We even took him to his first movie this weekend

> and he did great.  His blood is in a genetic study at Emory University. We

were

> told it could take years to learn more. We have an appt with a geneticist at

> Duke University to  see if they can provide us with any more info.

>  

>

>

>

>

>

>

> om: <shannonstilwell@...>

>

> Sent: Mon, October 11, 2010 12:54:55 PM

> Subject: [ ] Chromosome anomolies and apraxia, autism, etc.?

>

>  

> I was wondering if any of your little ones that have apraxia or symptoms of

> apraxia or are on the autism spectrum or exhibiting symptoms of ASD, have been

> tested by a genetics doctor? My son is 3 1/2 and so many of the children being

> described here have very similar symptoms to what he has. In February, he was

> diagnosed with Chromosome 22q11.2 Duplication Syndrome. Only recently has a

test

> been available to find this duplication, but more and more children are being

> diagnosed with it. It can be found through Microarray or FISH. My son was very

> delayed in walking and can now walk through much therapy. He also has autistic

> symptoms, Sensory Processing Disorder, hand flaps, spins, etc. He has a lot of

> trouble getting words out. He tries very hard lately and the addition of NV

and

> fish oils a few months ago have really helped. His comprehension is through

the

> roof. We just got approved for a grant to pay for private speech therapy for

him

> since our insurance won't cover it so I am praying that this is the

breakthrough

> for him!

>

>

>

>

>

[Guest guest]

Hi everyone,

We found out in July that my son has a chromosomal abnormality; he has a

microdeletion at 16p13.11. This test was recommended by the developmental team

that diagnosed him with apraxia (as well as hypotonia and microcephaly), as the

developmental pediatrician noticed he has some dysmorphological features that

are indicitive of a chromosome problem. The geneticist gave me a neat little

chart that shows where on the chromosome the deletion is and the genes he's

missing and told me he was predisposed to autism (although he was assessed and

is not on the spectrum), intellectual disability and epilepsy. She said it was

because the genes he's missing regulate brain growth/development (which made

sense to me, with apraxia being a neurological disorder) and that she could

" guarantee " he would develop learning disabilities. According to the Unique

website (and their facebook page), my son's karyotype is pretty rare, but if you

wanted to see if there's a correlation between specific karyotypes and

apraxia/autism/etc, you could always try looking at their registry and asking

the other parents on the facebook page.

I also wanted to add that this is my first time posting here but I've been

lurking since I got Jude's dx in May and the advice here and seeing that we're

not the only family going through this has been invaluable!

> >

> > Hi ,

> > My son is 3 1/2 years old and has a chromosome abnormality.

> > I found out when I was 18 weeks pregnant that my son was carrying a very

small

> > marker chromosome and he is 50% mosaic. The piece is so small that they were

not

> > able to determine exactly which chromosome it was duplicating. It is either

> > 1,5,or 19. The mosaic means that only 50% of his cell makeup has the marker

> > chromosome.The other 50% are completely normal without the extra piece. We

had

> > the fish study and a cord synthesis done while I was pregnant with him.

They

> > told me while I was pregnant that he may have developmental delays as a

result

> > or he may not have any effect. He looks completely normal. He understands

> > everything you tell him. His receptive skills are very good. He knows his

> > abc's,colors,shapes,numbers etc but he has been diagnosed with severe verbal

> > apraxia,moderate oral apraxia,sensory issues, he jumps alot and rubs his

fingers

> > together when he is excited about something.Little things like a fish

tank,his

> > track etc. He has some delay in fine and gross motor skills but that

is

> > almost caught up now. We received his diagnosis in July of 09. We have been

in

> > speech,OT and PT since then. He barely had any words at the time. He was 30

> > months and had only 5 or  6 words and they weren't very clear. He is just

now

> > starting to put 2 words together. We began the fish oils in July and that

was

> > when we had a surge in speech and the sensory calming down. He still jumps

but

> > can now tolerate a hair cut. We even took him to his first movie this

weekend

> > and he did great.  His blood is in a genetic study at Emory University. We

were

> > told it could take years to learn more. We have an appt with a geneticist at

> > Duke University to  see if they can provide us with any more info.

> >  

> >

> >

> >

> >

> >

> >

> > om: <shannonstilwell@>

> >

> > Sent: Mon, October 11, 2010 12:54:55 PM

> > Subject: [ ] Chromosome anomolies and apraxia, autism,

etc.?

> >

> >  

> > I was wondering if any of your little ones that have apraxia or symptoms of

> > apraxia or are on the autism spectrum or exhibiting symptoms of ASD, have

been

> > tested by a genetics doctor? My son is 3 1/2 and so many of the children

being

> > described here have very similar symptoms to what he has. In February, he

was

> > diagnosed with Chromosome 22q11.2 Duplication Syndrome. Only recently has a

test

> > been available to find this duplication, but more and more children are

being

> > diagnosed with it. It can be found through Microarray or FISH. My son was

very

> > delayed in walking and can now walk through much therapy. He also has

autistic

> > symptoms, Sensory Processing Disorder, hand flaps, spins, etc. He has a lot

of

> > trouble getting words out. He tries very hard lately and the addition of NV

and

> > fish oils a few months ago have really helped. His comprehension is through

the

> > roof. We just got approved for a grant to pay for private speech therapy for

him

> > since our insurance won't cover it so I am praying that this is the

breakthrough

> > for him!

> >

> >

> >

> >

> >