NEWS

The manuscripts from the 2020 Virtual SSADH Conference are being published on-line through the Journal of Child Neurology. 

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. 

The nine published papers listed below will be combined into a Supplement Edition for the Journal of Child Neurology.  Below are the papers that will make up the Supplement with an editorial from the primary investigators.

Editorial Proceedings

This is a brief editorial from the Primary Investigators on the Virtual SSADH Conference providing updates on the current Natural History Study.

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

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

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

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

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.

A Randomized Controlled Trial of SGS-742, a gamma-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.

Schreiber JM, Wiggs E, Cuento R, Norato G, Dustin IH, Rolinski R, Austermuehle A, Zhou X, Inati SK, Gibson KM, Pearl PL, Theodore WH.J Child Neurol. 2021 May 20:8830738211012804. doi: 10.1177/08830738211012804. Online ahead of print.PMID: 34015244

Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability

Tsuboyama M, Liu J, Kaye H, DiBacco M, Pearl PL, Rotenberg A. Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability. J Child Neurol. 2021 May 31:8830738211008735. doi: 10.1177/08830738211008735. Epub ahead of print. PMID: 34058900.

Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism

Bose M, Roullet JB, Gibson KM, Rizzo WB, Mansur HM, McConnell A, Hoffman CA, DiBacco ML, Pearl PL. Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism. J Child Neurol. 2021 Aug 31:8830738211028388. doi: 10.1177/08830738211028388. Epub ahead of print. PMID: 34463169.

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency

Martin K, McConnell A, Elsea SH. Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. J Child Neurol. 2021 Nov;36(13-14):1218-1222. doi: 10.1177/08830738211018902. PMID: 34882073.