Unlabelled: The purpose of this study was to determine (a) the general knowledge bases demonstrated by school-based speech-language pathologists (SLPs) in the area of genetics, (b) the confidence levels of SLPs in providing services to children and their families with genetic disorders/syndromes, (c) the attitudes of SLPs regarding genetics and communication disorders, (d) the primary sources used by SLPs to learn about genetic disorders/syndromes, and (e) the association between general knowledge, confidence, attitudes, the number of years of experience working as an SLP, and the number of children currently provided services with genetic disorders/syndromes on SLPs' caseloads. Survey data from a nationwide sample of 533 SLPs was analyzed. Results showed SLPs earned a median knowledge score about genetics of 66% correct responses. Their mean confidence and attitude ratings were in the "unsure" categories while they reported they learned about genetics from three main sources, (a) self-study via web and internet-based searches, (b) on-the-job training and (c) popular press magazines and newspapers. Analyses revealed that Confidence summary scores, Attitude Summary scores, the number of children with genetic disorders/syndromes on SLPs' caseloads are positively associated with the ratings of participants with the highest Knowledge scores.
Learning Outcomes: Readers will be able to (a) explain the important links between developmental and communication disabilities and genetics, (b) describe the associations between knowledge about genetics and confidence, attitudes, and the number of children with genetic disorders/syndromes on their caseloads, and (c) outline the clinical and theoretical implications of the results from this study.
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http://dx.doi.org/10.1016/j.jcomdis.2012.08.005 | DOI Listing |
J Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
View Article and Find Full Text PDFPLoS One
January 2025
Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, United States of America.
Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Pediatrics and Department of Developmental Biology, University of Pittsburgh, Pittsburgh, USA.
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease associated with microcephaly and poor neurodevelopmental outcomes. Here we show that the Ohia HLHS mouse model, with mutations in Sap130, a chromatin modifier, and Pcdha9, a cell adhesion protein, also exhibits microcephaly associated with mitotic block and increased apoptosis leading to impaired cortical neurogenesis. Transcriptome profiling, DNA methylation, and Sap130 ChIPseq analyses all demonstrate dysregulation of genes associated with autism and cognitive impairment.
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