Possible Speech Disorder

May 23, 2011

Hi, I have a doubt about a possible speech disorder my son may have. My son is 3

year old who was prenatally diagnosed with the classic Down syndrome, but I

think he may have mosaic Down syndrome. I think his speech and language is not

following a normal development pattern with a slower pace to consider what he

has is just speech and language delay. This has been in my mind long time ago.

My first word beside dada and mama was when he was 13 months. This word was

" hi. " He said it for a while and he stopped saying it for a year. Finally, the

word came back. He has used 2 word combinations in several occasions and he has

stopped doing it. But when we heard 2-word combination for the first time he

didn't have 50 spoken words. He is being raised bilingual and he said a few

months ago " más agua " that we were astonished for the articulation and perfect

spanish accent and it was an appropriate request from him because he finished to

drink his cup of water and handed it to daddy and said " más agua. " He hasn't

said " más agua " sine then. One day at the daycare, one of his teacher heard him

repeating after her " lay down Drew, " She said it was clear. How a child that

have a significant speech and language delay can suddenly repeat three words

combination and with good articulation. He used to perfectly say " agua, " but now

he cannot say it clearly. He was saying purple he is not saying anymore, Tommy

has said about 80 words inconsistently and he is stopping saying most of them.

This not the first time he stop saying or use the words he has used in the pass.

This is not following a normal speech and language development at a slower pace

to be consider speech and language delay in my opinion.

Do you know about speech and language disorder with similar symptoms or

characteristics than the ones described above?

May 24, 2011

You need to get a speech language pathologist to do a full speech and language

evaluation in order to diagnose which speech disorder your child has, if any at

all.

A speech delay is when the child follows the normal pattern of development (for

example, mama, dada, gaga, baba,...), but at a slower pace.

A phonological and articulation speech disorder is when the child talks but some

of it is difficult to clearly understand because there are errors in production

of the sound.

Apraxia (like what my son has) is when the child has problems sequencing the

sounds in order to form iintelligible speech; the child may initially have some

speech, but then the speech is lost. Children with apraxia can say some things

very clearly, but *on command*, they are unable to clearly repeat what you are

asking them to say.

There are many other speech disorders. These are just the typical ones. The best

thing to do is to get a speech & language evaluation and get a diagnosis, first.

Then do all the research you can based on the diagnosis. Keep in mind, though,

that the diagnosis may change as the child gets speech therapy; the initial

diagnosis may be an incorrect one (especially if the child was misdiagnosed with

Trisomy 21, as you think may have happened). My son was misdiagnosed at birth

with T21 and did not get rediagnosed until age 3 1/2. It took 5 years to get a

correct diagnosis of verbal apraxia (which is a very severe neurological speech

disorder and much different than a speech delay). Speech delays are more common

in Trisomy 21. And I hear that apraxias are more common in MDS.

My advice would be this:

Get a referral to a Speech language Pathologist (pick one with a good

reputation); usually ones who know about & are trained in apraxia care are

well-rounded speech therapists.

Second, if you have not had a 500 cell count on your child's chromosomes, and

you have a doubt that your child might be misdiagnosed, then you need to get a

more quantitative cell count done. I suggest having both the blood cell line and

the skin cell line (buccal smear) done. A 500 cell count for blood line and a

1,000 cell count for skin cells (buccal smear) is what is generally recommended.

That way you won't have excess worry and that will be *one less thing* to think

about. =)

Good luck and let us know.

>

> Hi, I have a doubt about a possible speech disorder my son may have. My son is

3 year old who was prenatally diagnosed with the classic Down syndrome, but I

think he may have mosaic Down syndrome. I think his speech and language is not

following a normal development pattern with a slower pace to consider what he

has is just speech and language delay. This has been in my mind long time ago.

> My first word beside dada and mama was when he was 13 months. This word was