Saturday, September 13, 2008

Questions Answered by Study of 1p36 Clinical Features

Dr. Tony Perszyk - Questions Answered by Study of 1p36 Clinical Features

Awareness should be a big priority for us because many are undiagnosed and there are important health concerns that they may be facing.

1p36 children work at their schedule and not according to anyone’s time table.  Dr. Perszyk is working on putting together good estimations of time tables and things to expect.

Continues to study the physical features and clinical symptoms of the syndrome.

No underlying endocrine system-related reason for the children’s size and weight.  More study is needed in this area.  None of the children in his study pass their parents in height.  He doesn’t have enough data to create an actual growth curve.  However, even with G-tubes and feedings the children below the typical CDC curve do not ever reach the growth curve.

By two years of age it’s important to teach the child how to eat healthily.  Don’t overdo it with foods because your child is off the bottom of the growth curve.  Keep the child healthy.

Many 1p36 kids have periods of flat lines on their growth charts where things get flat and that is a bigger cause for alarm than whether the child is on or off the typical chart.

Dr Perszyk would like direction on how to best use the data he’s collecting from the group to be able to best help the kids.  He’ll use it based on what we would like with our permission.

Zofran is a drug Dr. Perszyk has successfully prescribed to patients who have sensory issues in the gut.  May assist with discomfort with digestion in 1p36 Deletion kids.

Carnatine can be a good supplement to add for children on seizure meds to assist with depletion of that compound when children have seizures.  Seizures should get better with time.  The child changes and different meds may work better at different times.  Some parents have mentioned a side effect may be a fishy odor.

From his small sample of data it appears that 1p36 children do have true speech apraxia.  Don’t give up on speech even if it doesn’t come quickly.  There doesn’t appear to be a structural reason for not speaking.

1 comment:

Alysa said...

Thank you so much for posting these notes. We could not attend the conference this year. We hope to next year!
I used to live and work in Boston for many years and I am glad you had a chance to explore the city. It is so beautiful!
(mom to Vera, 8 months, 1p36.33)