Sunday, July 12, 2009

New Article on Apraxia Reaserch

There is a new article out this month on Apraxia research. It is very interesting to me since Emily seems to fit right into what they are talking about.


SYNDROME OF ALLERGY, APRAXIA, AND MALABSORPTION: CHARACTERIZATION OF A NEURODEVELOPMENTAL PHENOTYPE
THAT RESPONDS TO OMEGA 3 AND VITAMIN E SUPPLEMENTATION
Claudia R. Morris, MD; Marilyn C. Agin, MD


Objective • Verbal apraxia is a neurologically based motor planning speech disorder of unknown etiology common in autism
spectrum disorders. Vitamin E defi ciency causes symptoms that overlap those of verbal apraxia. Polyunsaturated fatty acids in the cell membrane are vulnerable to lipid peroxidation and early destruction if vitamin E is not readily available, potentially leading to neurological sequelae. Inflammation of the gastrointestinal (GI) tract and malabsorption of nutrients such as vitamin E and carnitine may contribute to neurological abnormalities. The goal of this investigation was to characterize symptoms and metabolic anomalies of a subset of children with verbal apraxia who may respond to nutritional interventions.
Design and Patients • A total of 187 children with verbal apraxia received vitamin E + polyunsaturated fatty acid plementation.
A celiac panel, fat-soluble vitamin test, and carnitine level were obtained in patients having blood analyzed. Results • A common clinical phenotype of male predominance, autism, sensory issues, low muscle tone, coordination diffi culties,
>food allergy, and GI symptoms emerged. In all, 181 families (97%) reported dramatic improvements in a number of areas including speech, imitation, coordination, eye contact, behavior, sensory issues, and development of pain sensation. Plasma vitamin E levels varied in children tested; however, pretreatment levels did not reflect clinical response. Low carnitine (20/26), high antigliadin antibodies (15/21), gluten-sensitivity HLA alleles (10/10), and zinc (2/2) and vitamin D defi ciencies (4/7) were common abnormalities. Fat malabsorption was identifi ed in 8 of 11 boys screened. Conclusion • We characterize a novel apraxia phenotype that responds to polyunsaturated fatty acids and vitamin E. The association of carnitine defi ciency, gluten sensitivity/food allergy, and fat malabsorption with the apraxia phenotype suggests that a comprehensive metabolic workup is warranted. Appropriate screening may identify a subgroup of children with a previously unrecognized syndrome of allergy, apraxia, and malabsorption who are responsive to nutritional interventions in addition to traditional speech and occupational therapy. Controlled trials in apraxia and autism spectrum disorders are warranted. (Altern Ther Health Med. 2009;15(4):34-43.)



This was just the first page cliff notes on the article. Could it really be as easy as Vitamin E supplements & dietatry changes? It really just validates pressuing the GI issues for me. I am glad we havent given up. I also am now wondering if Emily doesnt have Celiacs (blood tests are never 100% accurate) or some kind of Malabsorbption disorder. Wow! I am so glad that there are Doctors out there finally beginning to realize that more reaserch needs to be done so we can really start to understand this disorder!


Here is the link to the full article

http://www.alternative-therapies.com/resources/web_pdfs/recent/0709_morris.pdf

Friday, July 10, 2009

GI Update

We are headed to surgery again. This Monday Emily will be going in for a lower GI scope. Her GI doctor is looking to see what he can find. Essentially all the tests have been run & we still have no answers so now we are doing investigative work. He plans take at least 45 minutes to look around & take biopsies from several different ares of her lower GI. We should have preliminary results right after the test & the biopsy results about a week later. We are hoping & praying that we are able to figure out what is going on with this little girls GI so we can move forward. Please keep us in your thoughts & prayers.

Follow up appointment for Ear Tubes

Emily had her follow up appointment this week for her ear tubes. Everything looks great!! The Doctor said the tubes were in place, a little wax in there but it wasn't causing any problems. He also retested her hearing...which came back within normal range! Finally one thing something go our way!

Saturday, July 04, 2009

4th of July!

As anyone who has worked retail knows, there are no such things as holidays (except Christmas & usually Easter). My husband is one of those lucky retail workers (plus he's a manager so he gets the worst shifts on holidays). We are usually able to make due but this 4th of July he worked until 8:45. Which left no time to go anyplace as a family to watch the fireworks. We are lucky to have a farm down the road that does a large firework display. When we first moved into this house you could see the fireworks from our bedroom, now the trees have grown in & it is not possible. So Matt pulled in the driveway at 9:15, I had the kiddos all loaded in the car & down the road we drove. Emily has never been to a 4th of July Celebration. The first year everyone was sick! Last year I was 9 months pregnant. Matt & I both wanted her to see them this year. As we are pulling out of the neighborhood we can tell that fireworks had started. We had to drive in the same direction they were going off in! The farm is 5 minutes away, no problem! The road we take is usually really busy (4 lanes, with a dirt middle divider) but it wasn't too bad tonight. I think most people are either someplace for the 4th or at home avoiding the 4th. We decided to stop on the side of the road (after passing many watchers already there). I let the kids unbuckle & Emily gets to sit in the front with Daddy! She was in awe! It was so cute. "Daddy, Daddy, look, look!" I wish I had brought the video camera. She was truly amazed by them. She was so upset when they were done & asked for more. We sat on the side of the road for maybe 15 minutes. It was the best 15 minutes of my day. To see her eyes light up when she saw the fireworks (not on TV) was priceless!
We hope everyone had a safe & wonderful 4th of July!

Friday, July 03, 2009

Zoo Trip!

We had a wonderful at the zoo last week for our field trip. Emily is the perfect age! She knows all the different animals & sounds (& signs). Her feet were moving so fast that her poor little body couldn't keep up & that spells disaster. Lots of falls & bumps & bruises! Still a great time. One of her favorite animals is the elephant. She tries so hard to say "elephant" but all that comes out is "epadnt". Close. She also got to feed a giraffe. She was so incredably brave. If Matt or I wanted to accompany her up there we would have had to pay as well (which seemed stupid but we followed the rules). Anyhow, she went up there with the boys & a guide. They showed them how to feed them & a little information about the giraffes. She walked right up, stuck her hand out & had no fear! The zoo here has a Farm with a petting zoo (goats, a cow & a horse). They had a blast petting the goats. Emily had to go around & touch every goat. She had a rubber brush (provided) & brushed as many as she could. We also played at this little hidden park by the wallaby's. She took some fabulous pictures...