Trying to get accurate diagnosis for my son

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LAmomof4

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Hi:
I have four children, the youngest of which is 3 1/2 with sever speech delay. Briefly, he had trouble passing his newborn screening, but after many attempts the technician said he did pass. During his first year of life, he had over eight ear infections, several burst eardrums. After moving when he was 1 1/2, we finally got ear tubes to stop the infections (we fought his original pediatricians to no avail). He did very poorly on some booth hearing tests, and he was sent for a sedated ABR. The ENT there refused to give him the ABR, saying his booth tests weren't so bad. Finally, after a year of wrangling back and forth, my son got his sedated ABR. The audiologist that performed the test said at the time she was concerned that there was some extraneous noises that made my son jump during the test, but she did not put this in her report. The report came back with very ambiguous results - mild/moderate bilateral hearing loss in high frequencies, but "should not affect his ability to learn speech." New every doctor I go see looks at this ABR report and dismisses the possibility of hearing loss and immediately assumes autism. If my son fit the criteria for autism, I would pursue treatment/therapy for him. I am not trying to avoid an autism label. I just want an accurate diagnosis. My question here is - can ABR results be inaccurate? I am terrified that my little boy is HOH and no one is going to help him because of one report! I've been learning ASL on my own and teaching him as best I can, but I want to get him every kind of help available and I can't do that without a diagnosis. Any advice would be great!
 
ABR results are very accurate, and that is why they are used in ambiguous cases.

And as for autism, it is going to be made much tougher to get that diagnosis when the next DSM comes out.
 
First of all, it's awesome that he's only HOH but you're open to him learning ASL! That rocks! Is he in school? You can send him to a deaf school or dhh program, so he can learn in a dhh friendly setting. HOH kids can and do benifit from ASL. Insist that you want him to learn in a deaf program, with ASL. ASL and Deaf ed is NOT just for deaf kids!
Your audi is WRONG. Even unilateral loss can sometimes come with a spoken language delay. I have a syndrome, where even the hearing kids with it often have severe spoken language issues. You know......I wonder if the problem is that you might need to see a specialist audi....like one at a teaching hospital. ABRs can be inaccuarate. My ABR says I'm deaf, but I'm actually HOH....and I know other people who have experianced disreprencies on the ABR. .......I know you're concerned if there's anything that you can do re: your son being HOH, but did you know that back in the old days a lot of HOH kids, and even deaf kids didn't get HAs/CIs until we were toddlers! We still learned to speak and hear relatively well.
What state are you in? Have you contacted the state's Deaf School?
 
Oh and speech delay does NOT mean autism. I have seen this....doctors see severe speech delay and automaticly red flag it for autism. Sometimes kids (even with untilateral loss) have speech delay distinct from autism. Have those doctors never heard of apraxia?
 
I've been told that ABR is quite accurate on small babies, but NOT for toddlers. The last time I asked for it I've been told that after he's 1yo it wouldn't be accurate and may lead to false positive/negative responses. After 18 mo they told me the only accurate exam is electrocochleography (oh gosh, is this even a word?? Hope it make sense to someone, it's the exam with a needle in your eardrum), but we never went for it since it's invasive.

I guess the best you can do is wait for the kid to cooperate to the testing.

And well, talking about autism just based on one test is ridiculous. There should be a little more to notice, you know (my son hase some autistic traits, but I'm not worrying since I did have same as a child, at the moment he seems to be able to overcome this with just minimal help). Not talikng at 1 y and 1/2 is not so uncommon. Does he make any sound at all? Babbling? How does he behave in everyday life, like when you call him, talk to him etc? Soundbooth test... Really NOT reliable at that age. My son is 3 and still tests are not reliable at all, they told me we must wait at least until 5 or 6.

I'd have him tested for autism in some place where they KNOW what to look at. Some doctor who works in that fields. But if there's a relational problem and not only a hearing one, just look at your kid and you'll notice. I know I did... Spinning, flapping hands, lateral look, particular night awaking patterns, putting things in rows, great sensitivity to neon lights, are all more reliable as synthomps than lack of speech at that age. And still, thay're not enough for a diagnosys.
 
Thanks everyone!

Your support is really helping. I've felt very alone in this journey, and the medical professionals are making it worse - making me feel like I'm in some sort of denial or delusion.

Bottesini - I hope you are right that the new DSM toughens up the ASD criteria. It has become a catchall diagnosis that is falsely labeling many children.

Deafdyke - Thanks for the encouragement about ASL. Unfortunately, right now we find ourselves in northern Louisiana, where the deaf programs are scant or nonexistant. I am currently depending on the internet and the "Signing Time" DVD's to teach me ASL so that I can teach him. I took my son to the early intervention program at our school district for evaluation. They were horrible! They completely ignored the ASL that he was using to ask for more blocks and to say thank you. I pointed it out to them, but they were more focused on the fact that he was standing on his tiptoes and started down the Autism trail almost immediately. One even wrote down that he suffered from tremors because he was shaking his hand back and forth for "potty." It was a nightmare! I have been emailing the LA school of the deaf in Baton Rouge regularly. They are the only other facility within range that can do a sedated ABR around here. They have been very nice, but are also falling back on the first ABR results as gospel. If I can get a definitive diagnosis for hearing problems, then we will be moving somewhere with a strong deaf education program. We will probably do the same if the diagnosis is Apraxia, or whatever. This area is very weak for anyone who needs anything different from the masses. I have an appointment at a "Children's Clinic" in Shreveport on Monday to set up an evaluation. This place supposedly contains both audiologists and developmental people, so we'll see if they can be openminded enough to look at all possibilities.

messymama - Thank you for the information about the electrocochleography. I have not heard of that! I am speaking to a team of evaluaters on Monday, and I will ask them about that possiblity. His tubes are still in place. do you know if it can be done with them?

Again, your help means so much. Thank you, everyone!
 
welcome to AD, same here but now I have moderate/severe/severe loss (has mild/moderate back then)
 
Thanks to everyone for the support. I can't tell you how it helps me. There are times when I think I'm insane for not letting go of the hearing issue, but then I know somehow that I can't let it go. I'll try to answer all of the questions.

Bottesini - I hope you are right - the DSM criteria needs to be tightened up. ASD has become a catchall diagnosis and a lot of children are being lost in incorrect therapy.

Deafdyke - Thank you thank you! It is so refreshing to hear someone say that a medical professional can be wrong! No, he isn't in school. I took him in to the local public school early intervention screening. It was a nightmare! They ignored the fact that he was signing (and even wrote down that he had tremors when he shook his fist back and forth for "potty"!!) They saw him walk a couple of steps on his tiptoes and instantly started down the ASD path, even though they could not identify ONE of the criteria he met for ASD except the speech delay (and they specify in the DSM that it has to be a speech delay without any attempts to communicate by other means. Hello? What is ASL??) I have been in touch with the state's School of the Deaf, and they were very nice, but they, too, took the ABR as gospel. I have a meeting tomorrow morning with a group at the University here that includes audiologists and child psychologists to map out another evaluation. Hopefully I can get them to take a harder look at the hearing issue. Unfortunately, we are currently in northern Louisiana (not our native area). The deaf education here is sparse, to say the least. If I can get an accurate diagnosis, I will begin to look for better areas of the country to move to.

Messymama - Thank you for the info on the electrocochleography. I had not heard of that, and will bring it up tomorrow.

Sarfarigirl - Thanks for the welcome!
 
LAmomof4 said:
Bottesini - I hope you are right - the DSM criteria needs to be tightened up. ASD has become a catchall diagnosis and a lot of children are being lost in incorrect therapy.

Deafdyke - Thank you thank you! It is so refreshing to hear someone say that a medical professional can be wrong! No, he isn't in school. I took him in to the local public school early intervention screening. It was a nightmare! They ignored the fact that he was signing (and even wrote down that he had tremors when he shook his fist back and forth for "potty"!!) They saw him walk a couple of steps on his tiptoes and instantly started down the ASD path, even though they could not identify ONE of the criteria he met for ASD except the speech delay (and they specify in the DSM that it has to be a speech delay without any attempts to communicate by other means. Hello? What is ASL??) I have been in touch with the state's School of the Deaf, and they were very nice, but they, too, took the ABR as gospel. I have a meeting tomorrow morning with a group at the University here that includes audiologists and child psychologists to map out another evaluation. Hopefully I can get them to take a harder look at the hearing issue. Unfortunately, we are currently in northern Louisiana (not our native area). The deaf education here is sparse, to say the least. If I can get an accurate diagnosis, I will begin to look for better areas of the country to move to.

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Oh so you have access to a university hospital? Is it a REALLY good one? That is AWESOME.....and yes, he has mild/moderate loss. Even unilateral loss can impact abilty to learn speech sometimes. Actually, you do have a dx....mild/moderate loss. You really should move to a state that has good dhh programs/schools. I can already tell you that if deaf ed is sparse, he won't have a great time in public school....HOH kids can and DO benifit from Deaf Ed. My friend had a severe cleft palate and only has a HOH loss, but still was in Deaf ed. Would Florida be a good option? Florida School for the Deaf and Blind is very good....there are some very good Deaf Schools there and many of them do have HOH kids. And seriously, ask the people at university hospital about apraxia. Also, does your son have anything else of note? If he has hearing loss, and severe apraxia (and apraxia can be a comorbid with dhh kids) he only needs one more thing of note to look into something more......did you know that even kids with mild issues (ie heart murmur, spoken language delay and hearing loss) may have something unidentified?
I'm prolly the expert on spoken language issues being a concern on here....My syndrome (even without hearing loss) can cause severe spoken language issues. There is also a related syndrome to my sydrome that can manifest as severe spoken language delay, and can look kinda like CP or "obvious" learning disabilty.
 
deafdyke said:
Oh so you have access to a university hospital? Is it a REALLY good one? That is AWESOME.....and yes, he has mild/moderate loss. Even unilateral loss can impact abilty to learn speech sometimes. Actually, you do have a dx....mild/moderate loss. You really should move to a state that has good dhh programs/schools. I can already tell you that if deaf ed is sparse, he won't have a great time in public school....HOH kids can and DO benifit from Deaf Ed. My friend had a severe cleft palate and only has a HOH loss, but still was in Deaf ed. Would Florida be a good option? Florida School for the Deaf and Blind is very good....there are some very good Deaf Schools there and many of them do have HOH kids. And seriously, ask the people at university hospital about apraxia. Also, does your son have anything else of note? If he has hearing loss, and severe apraxia (and apraxia can be a comorbid with dhh kids) he only needs one more thing of note to look into something more......did you know that even kids with mild issues (ie heart murmur, spoken language delay and hearing loss) may have something unidentified?
I'm prolly the expert on spoken language issues being a concern on here....My syndrome (even without hearing loss) can cause severe spoken language issues. There is also a related syndrome to my sydrome that can manifest as severe spoken language delay, and can look kinda like CP or "obvious" learning disabilty.
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I guess you're right. I have the diagnosis, I guess I'm really just wondering why the professionals around here are ignoring it. Out of one side of their mouths they say he has a hearing loss, but then say it shouldn't matter. I'm trying to think if he has any other issues. He had a dilated kidney on his prenatal ultrasounds, but it was within their range so they didn't do anything about it. He has a cafe au lait spot on his back, and was given an MRI at the time they gave him his ABR, but they didn't say that they found anything. (In fact, they didn't tell me anything about the results of that now that you mention it). I've never had anyone mention heart murmurs. What syndrome are you thinking of?
I've thought of apraxia myself. I'll definitely ask about that with them. Thank you for talking with me. It is incredibly helpful.
 
LAmomof4 said:
I guess you're right. I have the diagnosis, I guess I'm really just wondering why the professionals around here are ignoring it. Out of one side of their mouths they say he has a hearing loss, but then say it shouldn't matter. I'm trying to think if he has any other issues. He had a dilated kidney on his prenatal ultrasounds, but it was within their range so they didn't do anything about it. He has a cafe au lait spot on his back, and was given an MRI at the time they gave him his ABR, but they didn't say that they found anything. (In fact, they didn't tell me anything about the results of that now that you mention it). I've never had anyone mention heart murmurs. What syndrome are you thinking of?
I've thought of apraxia myself. I'll definitely ask about that with them. Thank you for talking with me. It is incredibly helpful.
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Sigh.......again even the hearing kids with my syndrome very often have significent spoken language issues. But yeah, even unilateral HOH kids can deal with spoken language issues.
I wasn't thinking of a particular syndrome.....just using that as an example. I do know that kids with 18p- (most of whom have perfect hearing) tend to be dx b/c of their severe spoken language delay.
 
Are you taking him to Loyola? You really do need someone who is an expert, and who just isn't reading Moog or the latest from the private oral schools. HOH kids can and do have spoken language delays.
 
deafdyke said:
Are you taking him to Loyola? You really do need someone who is an expert, and who just isn't reading Moog or the latest from the private oral schools. HOH kids can and do have spoken language delays.
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Sadly, Loyola is about 9 hours from us. We are about an hour north of Shreveport. Currently, I'm dealing with LSU medical center in Shreveport. The meeting yesterday went fairly well, although the panel I met with had four developmental psych people, one Speech Therapist and NO audiologist. They were definitely gunning for an ASD dx. I did get them to refer him to the LSU hearing and speech center for a new round of hearing screenings, so I guess that was a small victory. If LSU doesn't help, I think I will head for the Dallas Ear Institute. It is only about two hours away. What is 18p (from your earlier post) ?
 
LAmomof4 said:
Sadly, Loyola is about 9 hours from us. We are about an hour north of Shreveport. Currently, I'm dealing with LSU medical center in Shreveport. The meeting yesterday went fairly well, although the panel I met with had four developmental psych people, one Speech Therapist and NO audiologist. They were definitely gunning for an ASD dx. I did get them to refer him to the LSU hearing and speech center for a new round of hearing screenings, so I guess that was a small victory. If LSU doesn't help, I think I will head for the Dallas Ear Institute. It is only about two hours away. What is 18p (from your earlier post) ?
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Oh man.......so you're dealing with a state school medical center that isn't too familar with odd things? Definitly go to the Dallas Ear Insistute....I think they'll be more familiar with odd stuff, and won't lump your son in with ASD. I feel for you. I have to go to the hospitals in Boston for my medical issues, and even THERE I got " our medical tests suggest you weren't intended for life on this planent." The only ASD symptom he has is lack of speech right?
Have those doctors NEVER heard of apraxia?
And 18p- is a chromosome disorder: 18p-
The old info on the site said that a lot of kids were dx b/c they didn't develop speech. In the milder forms it can look a lot like cerebal palsy, and I think a lot of kids may be misdx. Did you know it's very common for "just learning disabled" kids to speak late?
 
deafdyke said:
Oh man.......so you're dealing with a state school medical center that isn't too familar with odd things? Definitly go to the Dallas Ear Insistute....I think they'll be more familiar with odd stuff, and won't lump your son in with ASD. I feel for you. I have to go to the hospitals in Boston for my medical issues, and even THERE I got " our medical tests suggest you weren't intended for life on this planent." The only ASD symptom he has is lack of speech right?
Have those doctors NEVER heard of apraxia?
And 18p- is a chromosome disorder: 18p-
The old info on the site said that a lot of kids were dx b/c they didn't develop speech. In the milder forms it can look a lot like cerebal palsy, and I think a lot of kids may be misdx. Did you know it's very common for "just learning disabled" kids to speak late?
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Wow, even in Boston they treat people like that? Unbelievable!! Yeah, the only DSM ASD criteria he has is the lack of speech. He does have trouble sleeping, which I understand is common with ASD, but all of my children have been poor sleepers too. Oh, I had never seen the abbreviation 18p-. He had a prenatal CVS scan and came back with a low probability for 18p-, but we did not have the amniocentesis. Interesting idea. I should run that by the medical folks too.
 
LAMom, my syndrome is very rare, and they had NO clue about it in Boston.
Yes, have them test for 18p-. The geneticist in charge of things at the Chromosome 18 Registry says he thinks that 18p- might be really common and should be tested in ANY case where there's a severe spoken language delay. The trouble with testing is that a lot of docs still think that autosome (numbered chromosome) disorders= REALLY severe. Not quite......There are the stereotypical kids who have about ten million medical problems, and who are profoundly mentally handicapped but there are also normal IQ kids who are just HOH and have a lot of weird medical problems, or just kids who speak very late.
 
I didn't speak until late either, he might be just taking his time or it could (most likely) be his hearing affecting his speech. If no other signs point to autism then you should get another medical opinion with someone who would look at his hearing as well as everything else.
Also because I didn't have access to sign language growing up I strongly recommend asl or sign of any form. I know sign language would have made my life easier even though I can hear some voices and lipread.
 
The 18p- is definitely an avenue to look into. His teeth came in very late, which I didn't connect to any of this until I read some of the characteristics of 18p-. He doesn't have the small stature, by any means. He is very tall and well built. Physically, he's very well proportioned.
As for the ASL, I wish I had access to formal classes. If anyone knows of any in the Shreveport/Bossier City, LA area, please let me know. For now, I am teaching myself and him with a hodgepodge of Signing Time DVD's and lifeprint.com.
He has a speech eval on Feb 1st (finally!!), so we'll see what that brings.
 
LAmom, I understand how frustrating the doctors are. Doctors don't react well when they cannot immediately diagnose something very common. I get the words "rare" and "complicated" then shuffled between specialists. I don't have a solution for you. Only virtual tea and sympathy.

The hearing loss with a sensory intergration disorder can look vaguely like autism. My kid had sensory issues and this created a lot of anxiety. Now that he's an adult, he's doing well. He has more control over his environment and better coping skills.

Try not to worry too much about a diagnosis and just keep trying to meet your kid's needs. You're the mom and you're the one who knows what he needs. Mostly, he needs your love. That's true for anyone.
 
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