Expert: Jene Aviram - 11/2/2010

Question
Hi Jene

My son is 26 months old.  At 17 months he was Dx with major hearing loss
due to misdiagnosed strep pneumo.  He has surgery and tubes and seems to
be doing much better.  At that time he has zero babbling and sound
production and seemed to be off in his own world a lot of the time (although
very affectionate and no behavioral issues).  One major issue has been that he
has engaged in a very unusual pattern of sterotyped movement since he
started walking.  He looks down and the ground and slaps his thighs.  This
never happens when he is upset, only when he is bored and sometimes
excited.  At 17 months we started him in ST (2x per week) and OT (1x per
week).  His receptive language and play skills soared with ST and his ST said,
no way to ASD.  She noted that he had great receptive and play skills, joint
attention and tried hard to please.  The OT felt that the stereotyped
movement was related to his arousal level and started with sensory
integration therapy.  He has made some progress in decreasing the
stereotyped movement but it is not great.  He is up to level in fine and gross
motor and has some improved social skills.

Two months ago at 24 months he was re-assessed with a new ST who
specializes in ASD and Apraxia and was Dx with Apraxia (verbal and oral).  
The new ST feels the same way, no way to ASD.  She thinks that he is having a
little extra trouble socially because he does not know how to join in without
words.  In two months he went from being entirely non -verbal and silent to
having about 10 words and approximations and babbling with intent about
85% of the day!  ST notes that he is trying so hard to communicate and his
words have meaning and intent.

Our son was evaluated by Early Intervention and they did not know what to
make of things either.....they noted that he has great cognition, asks me for
help, is affectionate, has NO behavior problems and is making incredible
progress in ST.  They did the unthinkable and agreed to vendor our private ST
and pay her for three sessions per week!  (The have only approved one other
child for more then one session per week in the past 18 months).  They also
agreed to pay for OT so our little guy is getting ST 5x per week and OT 2 x
per week.

Our son has never had any blood work, testing done.  Our problem is that we
walk into a room with a neurologist and they see a little guy with very limited
expressive language who is engaging in stereotyped motor movements and
they dismiss it immediately as ASD.   The neuro we saw, spent 15 minutes,
did not physical exam or labs and told us that our OT, ST and Developmental
Ped through Early Intervention "don't know anything."

We are taking our son to Lucy Jane Miller's STAR Center (Sensory Treatment
and Research Center) for an extended assessment and treatment next week, in
hopes that they will know what to make of all of these confusing symptoms.  
In a nutshell:  Severe Apraxia, Stereotyped Motor Movements, some social
challenges and sometimes seems to be in his own little world, combined  with
total affection for known individuals, NO behavioral issues, no lining up,
spinning etc, no perseverance, great cognition, great attention (sits for 50
minutes without getting up for ST).  Our son is extremely engaged with people
and activities he know and understands and is trying so hard to communicate
and please.  He gets that he is not able to talk and will ask for physical
prompts (part of Kaufman protocol) to make sounds and say words.  He is
super sweet and loving.  He can point, wave etc, but has a hard time doing
these things on demand (praxis?).  He gives and receives hugs and kisses,
high fives etc.  What do you think?  

Thanks so much!!

Answer
Hi,

My sincerest apologies for the late response.  I typically get notified immediately when there is a question and I just found your post and one other in my junk mail.  Not sure why that happened!

I wonder if you've gone for your appointment and what the outcome was.  You are an extremely proactive mom and an amazing advocate for your child.  One of the most difficult things is not having answers or knowing what the problem is, and I can see that you're determined to get to the bottom of this.

From the description you've given, my first impression is that your son would not qualify for a diagnosis on the autism spectrum.  While many people on the spectrum share your son's challenges such as speech delays and sensory processing, the  hallmark of autism is really a social disorder.

It seems like your son has this intact.  Being engaged, communicating and asking for help are all great signs of social communication.  But because of the other characteristics such as perseverative and stereotype behavior, and being in his own world periodically, I would definitely seek another opinion.  Its unfortunate that the neurologist showed so little interest and was not thorough.  I don't think I'd rely on her opinion.  But it's a really good idea to see someone that specializes in childhood disorders.  I hope the STAR Center does that, and does not concentrate mostly on sensory disorders, because the evaluation will not be comprehensive enough.  

If I were in your shoes I would ask for a referral from your pediatrician.  If you don't get anywhere with that, I would contact the Autism Society Of America Chapter in your area.  You can bet that the people here would know of some great medical practitioners.  And that way, you can relieve your fears about the spectrum and get your son the help he needs.  You can find the chapter for your area at this link.
http://www.autism-society.org/site/PageServer?pagename=community_chapters

The other thing I recommend you do is read this article called "How do you know if your child has autism?" It might help you put things in perspective.  You can find it right here.
http://www.nlconcepts.com/autism-howdoyouknow.htm

I'm sure you've probably done the MCHAT, but do it again on this site.  Don't peek, answer the questions and when you click"should I be concerned" it will tell you which questions are the real indicators of autism.
http://www.nlconcepts.com/autism-mchat.htm

One cannot possibly diagnose over the Internet, but as you said, your son has a wealth of strengths combined with some challenges.  This makes it a little tougher to diagnose and he definitely needs a very comprehensive evaluation to get to the bottom of it.  With a mom like you, I'm sure he'll get it and that he will go far in life.

I wish you the best of luck and success.

Jene Aviram
http://www.nlconcepts.com