Saturday, August 01, 2009

Clinical Observations on 1p36 Deletion Syndrome - Dr. Anthony Perszyk MD

Watch and treat vision, hypotonia and heart issues. Low muscle tone is an issue, but there are also issues with fatigue and diet that can lead to weakness.

Heart muscle thickness or contraction patterns can be an issue. Watch this carefully. Pressure and other problems can be controlled through medication.

Brain development continues through childhood should be examined regularly. 1p36 patients have delayed maturation. This causes the delays in functions like sitting, standing walking, speaking, etc. It doesn't mean you won't get there. It just takes more time to fully finish that development.

Seizure control medications can further delay development. Seizures must be controlled in order to allow for progress, but because medications can also inhibit progress, it's a fine line to walk. MRIs are safe (no radiation) and should be used as needed to examine the structure of the brain. As the brain matures hearing and vision can improve.

1p36 Deletion patients are small at birth and below the curve in 2 and 3 year olds. Growth does eventually come along. There is worry about how much is nutritional. Long term we'll be able to learn more. More data is needed for a proper growth chart. Dr. Perszyk especially needs more data for patients older than two or three years of age.

Genes involved in 1p36 Deletions may lead to low weight when young. Then obesity later in life. We'll be watching this issue in the data. Having a growth chart will help to better track this.

Thyroid testing should take place regularly. Watching bone age and health is also recommended.

Most importantly, if you find that a therapist or doctor is defining limits for your child and he or she tells you they've gone as far as they can, go find a new doctor or therapist. Don't let them put limits on your children.

4 comments:

Alysa said...

Love the last paragraph...great advice!!

mallory said...

I am glad there are people that are willing to take time to post their stories and the information they have online. I am a single mom with 2 kids and my 4 year old daughter has 1p36 deletion syndrome. i was just recently told by her neurologist that she will not move past her infant stage of developement and she will most likely die at a young age, i have not slept in 3 days those words are haunting me! she is my miracle baby and i could not live without her! if anyone has information i could use please send it to me at mallory_sctt@yahoo.com thank you!

Indhrika said...
This comment has been removed by the author.
Indhrika said...

Thanks for this useful post. Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/1p36_Deletion_Syndrome/704. Thanks, AccessDNA