Sunday, August 21, 2011

Dr. Joseph Clark Announcement- Cincinnati Children's Hospital

The following is from Dr. Joseph Clark of Cincinnati:

As I hope many of you know I am dedicated to the study, diagnosis and treatment of the creatine transporter deficiency disorders called: GAMT, AGAT and CTD. I have blogged on these subjects several times before and have an announcement. Here in Cincinnati we (University of Cincinnati and Cincinnati Children’s Hospital Medical Center*) are launching the first of its kind diagnostic for all three diseases. Previously patients often had to have multiple doctor’s visits and can take many months to get a diagnosis. Now, gone are the hassles of sending samples to three different labs, that were collected in different ways at different times. One visit, one collection method and one lab can do the genetic diagnosis. The launch of this new service is August 1 2011. More info about this service can be found here: http://www.cincinnatichildrens.org/svc/alpha/h/genetics/labs/cytogenetics/default.htm?WT.mc_id=100439&utm_campaign=Human-Genetics&utm_content=cytogenics&utm_medium=Web-Print&utm_source=Shortcut

This one stop shop concept for the diagnosis of the creatine deficiency syndromes will save time and angst for the doctor, patient and caregiver and is especially important as these diseases, when treatable, require early treatment to achieve optimal benefits. There are many anecdotal stories of families who have identified a deficit with their child at an early age but take years for a diagnosis. The late diagnosis often leads delay in treatment and can result in prolonged deficits in the patients. Time is brain for many of these patients and our new system will save time.

We are happy about the launch of our new diagnostic technology. Please spread the word to patients, doctors and advocates so that we can diagnose these patients early and effectively. Check out our facebook group https://www.facebook.com/#!/groups/127389967322193/ for future updates and more discussions on the creatine deficiency syndromes. Watch this space as well to see what we will be rolling out as we continue to work to help caregivers and patients with creatine deficiency syndromes.

Questions about the test can be sent here: moleculargenetics@cchmc.org, Questions about creatine deficiency syndrome research in Cincinnati can be sent to joseph.clark@uc.edu.

*Please note, I am not a representative of the University of Cincinnati and/or Cincinnati Children’s Hospital Medical Center, but want to make everyone aware of what these outstanding institutions are doing.

John's Progress - 3 years old

John says approximately 50-75 words now. He can put two words together pretty good now “Mom watch” “Dad ball” “Mom come” and recently I’ve heard him put 3/4 words together…… he says oonnne, twoooo, eeee, go!

His speech therapist tested him back on March 3rd and he has made tremendous progress since this report. Back in March (2years 9 months old) He received a receptive language standard score of 104 and standard scores of 85-115 indicate age appropriate skills. And his age equivalence score put him at 2 years 11 months and he was only 2 years 9 months old at the time, so he actually scored above his age for receptive language skills. I think this has to do with the fact that he couldn’t talk very well, so the poor kid became a very good listener!  Receptively John was able to complete the following tasks: 1. Identify colors, 2. Make inferences. 3. Understand expanded sentences (“Point to the white kitten that is sleeping”) John received an expressive language standard score of 70 and age equivalence of 0 years 6 months. Expressively, John was able to complete the following tasks: 1. Imitate words (ball), 2. Use 5 to 10 words 3. Use vocalizations and gestures to request toys or food. John was Unable to 1. Produce different types of consonant-vowel combinations, 2. Name objects in photographs 3. Ask questions.

John’s gross motor skills are excellent! He runs, jumps, does the monkey bars with just a little support, can climb up a slide, jumps from 3 feet in the air and lands on his feet, climbs a rope ladder, walks a balance beam, his balance is excellent, he can kick a ball, throw a ball, he can even sometimes hit a ball with a bat when you throw a ball to him, but he is probably only hits about 2 out of 10 pitches, but I’m sure that for his age that is probably excellent. I’ve even had some parents think that he is 4-5 years old when they see him playing on the playground and I think part of that is that he has no fear and he is so light that I think he just moves very easily.

His fine motor skills are ok. He has good movement in his hands, but it is just a matter of strength and not dexterity. He has a hard time pinching off a piece of play dough or pressing really hard on it. It is hard work for him. He is just now learning how to pull off one of his socks and it is hard for him. He struggles pulling up or down on his pants and I think that is because he can’t get a good pinch on them. He has just recently learned how to take off his shoes, but he is a long ways off from learning to put them on and I think that is something he should know how to do by now. He can’t do buttons.