Publications by authors named "Kerry M White"
Article Synopsis
- - Phelan-McDermid syndrome (PMS) is a genetic disorder caused by SHANK3 haploinsufficiency, leading to various neurodevelopmental and systemic issues.
- - Updated clinical management guidelines for PMS were created by an expert taskforce to incorporate recent findings and provide comprehensive support for clinicians and the community.
- - The new guidelines improve the assessment and management of PMS, while also noting the need for ongoing research to refine treatment recommendations as more information becomes available.
Background: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations.
View Article and Find Full Text PDFDisturbances of visual perception frequently accompany neurodegenerative disorders but have been little studied in Huntington's disease (HD) gene carriers. We used psychophysical tests to assess visual perception among individuals in the prediagnostic and early stages of HD. The sample comprised four groups, which included 201 nongene carriers (NG), 32 prediagnostic gene carriers with minimal neurological abnormalities (PD1); 20 prediagnostic gene carriers with moderate neurological abnormalities (PD2), and 36 gene carriers with diagnosed HD.
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