NEWS

Proceedings Published from Virtual Conference

The manuscripts from the 2020 Virtual SSADH Conference are being published on-line through the Journal of Child Neurology.  We are expecting to publish up to nine papers. 

The majority of the topics are from the presentations, however when we moved from an in-person to a virtual event we were forced to scale back and eliminate some of the presentations.  Fortunately, a few of those topics will also be available in publication form.  We are hopeful that a hard copy version will eventually be published as a supplement to the Journal of Child Neurology.  Below are the papers that have been published to date.

Review of the Natural History Study

1. Pearl PL, DiBacco ML, Papadelis C, et al. Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study. Journal of Child Neurology. January 2021. doi:10.1177/0883073820981262

JCN Review Of Natural History Study


Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue

1. Walters DC, Lawrence R, Kirby T, et al. Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue. Journal of Child Neurology. February 2021. doi:10.1177/0883073820987742

JCN Postmortem Article


Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency

  1. Afacan O, Yang E, Lin AP, et al. Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency. Journal of Child Neurology. February 2021. doi:10.1177/0883073821991295
JCN MRI NHS Article

Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in g-Aminobutyric Acid Plasticity

  1. Lee HHC, Pearl PL, Rotenberg A. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. Journal of Child Neurology. February 2021. doi:10.1177/0883073821993000

JCN Enzyme Replacement Manuscript

Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency:
Toward Pre–Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions

Ahmadi ZZ, DiBacco ML, Pearl PL. Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions. J Child Neurol. 2021 Mar 23:8830738211001210. doi: 10.1177/08830738211001210. Epub ahead of print. PMID: 33757330.

JCN Speech Motor Function And Auditory Perception