Friday, April 30, 2010

NYT article on Fragile X drug from Novartis

From the April 29 2010 New York Times:
An experimental drug succeeded in a small clinical trial in bringing about what the researchers called substantial improvements in the behaviors associated with retardation and autism in people with fragile X syndrome, the most common inherited cause of these mental disabilities.


The Novartis trial, which began in 2008 in Europe with data analysis completed this year, was too brief to observe effects on basic intelligence. Instead, researchers measured a range of aberrant behaviors like hyperactivity, repetitive motions, social withdrawal and inappropriate speech. They gave one set of patients the drug and another a placebo, and after a few weeks switched treatments, with both doctors and patients unaware of which pill was which.

The results of the trial were something of a jumble until Novartis scientists noticed that patients who had a particular, undisclosed biological trait improved far more than others. “The bottom line is that we showed clear improvements in behavior,” Dr. Fishman said.

It's interesting because this trial was on adults. They suspect that the drug may benefit children more. We'll be keeping an eye on this.

Tuesday, April 27, 2010

Another dull post about sleep written by a sleep-deprived parent

It's looking like we will need to take Quinn for one of those overnight pediatric sleep evaluations, assuming we can get our insurance to pay for what I'm sure is an absurdly high fee. Quinn is taking over an hour to fall asleep with meds and still waking up multiple times per night, and at least twice a week he is up for hours in the middle of the night. We are so tired.

The cause of all this is not just that Quinn doesn't "need" more sleep. He is tired and cranky often. Sometimes in the middle of the night he is happy to be awake, but usually he is red-faced, crying, frustrated, and unable to get to sleep. He nods off instantly almost every time we take him for a drive. He is often late to school because after being up for hours in the night, he finally falls asleep at 6 in the morning, and we don't have the heart to wake the exhausted little man.

And though I am a bit grumpy due to sleep deprivation, if one more person says something about how "normal" it is for kids to have sleep problems, I might say something quite rude. There is nothing normal about kids and parents not getting adequate sleep for more than a few weeks at a time for over three and a half years even after reading numerous sleep books, getting ear tubes (which were supposed to help with sleep by relieving uncomfortable pressure), making multiple doctor visits, and trying three different sleep medications.

Grrr. End of rant. Off to bed.

Friday, April 16, 2010

Sibling rivalry

We bought this doll for Quinn awhile ago, just because I thought it was cute. It makes gurgling and drinking sounds when you "feed" it with the attached bottle. He has not really been interested in the doll.

Tonight I was playing around and holding the doll like a baby and feeding it. Quinn grabbed it from me and slapped it and said "bye bye"! I held the baby again, just to see what he would do, and he repeated the grabbing, hitting, and "bye bye".

It's fun to see Quinn exhibit developmentally "normal" behavior. And I guess it's good we have no immediate plans to give him a sibling.

Thursday, April 1, 2010

Quinn video!

Now that I have my new iPhone3GS, we should have more Quinn videos! Here's one of Sarah reading Mouse Mess, with Quinn chiming in with the occasional word when we encourage him. He's better at this than I thought he would be. I think there are some words that he just knows by sound and can say even though he doesn't know what they mean (e.g. "about," which he doesn't say in this video but he did for me just before).