Thanks in advance – Amy
There has been very little study done on the genetic link between the seizures and DS and they hope by doing so they can isolate whatever link there might be in order to help children down the road. The challenge is to see why some children are affected more profoundly ie Larkin – and others resolve more easily. Speech seems to be a focus of this study as well.
Children with Down Syndrome have an increased risk of seizures in general, especially infantile spasms. We do not understand how infantile spasms develop in children with Down Syndrome, and we do not understand why infantile spasms in some children can lead to life-long problems with seizures, and other developmental issues such as autism. The main goal of our research is to study how the genetic blueprint may be affected in children with Down Syndrome, and how those changes may lead to infantile spasms. Our hope is to better understand these risk factors, and potentially develop new therapies down the road.
(I try not to be too detailed about all the many genetic tools we use, but encourage parents to visit our research website and contact me by email if they have questions.)
Again, thanks so much for your time and I would very much appreciate the opportunity in the future to bounce ideas off of you, and approach you as a resource for reaching parents.
All the best,
Alex Paciorkowski, M.D., FACMG
Instructor of Neurology
Washington University in St. Louis
Dept. of Neurology
Div. of Pediatric & Developmental Neurology
Campus Box 8111
660 South Euclid Ave.
St. Louis, MO 63110-1093
Office: (314) 454-6120
Fax: (314) 454-2523
Principal Investigator, Infantile Spasms Registry & Genetic Studies