17 research outputs found
The detection of a strong episignature for ChungâJansen syndrome, partially overlapping with BörjesonâForssmanâLehmann and WhiteâKernohan syndromes
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm). We assessed the DNAm profiles of affected individuals with pathogenic and likely pathogenic PHIP variants with Infinium Methylation EPIC arrays and report a specific and sensitive DNAm episignature biomarker for ChungâJansen syndrome. In addition, we observed similarities between the methylation profile of ChungâJansen syndrome and that of functionally related and clinically partially overlapping genetic disorders, WhiteâKernohan syndrome (caused by variants in DDB1 gene) and BörjesonâForssmanâLehmann syndrome (caused by variants in PHF6 gene). Based on these observations we also proceeded to develop a common episignature biomarker for these disorders. These newly defined episignatures can be used as part of a multiclass episignature classifier for screening of affected individuals with rare disorders and interpretation of genetic variants of unknown clinical significance, and provide further insights into the common molecular pathophysiology of the clinically-related ChungâJansen, BörjesonâForssmanâLehmann and WhiteâKernohan syndromes.</p
Increased connectivity among sensory and motor regions during visual and audiovisual speech perception
In everyday conversation, we usually process the talker\u27s face as well as the sound of the talker\u27s voice. Access to visual speech information is particularly useful when the auditory signal is degraded. Here, we used fMRI to monitor brain activity while adult humans
Tutorial: Speech Assessment for Multilingual Children Who Do Not Speak the Same Language(s) as the Speech-Language Pathologist
Purpose: The aim of this tutorial is to support speech language pathologists (SLPs) undertaking assessments of multilingual children with suspected speech sound disorders, particularly children who speak languages that are not shared with their SLP. Method: The tutorial was written by the International Expert Panel on Multilingual Childrenâs Speech, which comprises 46 researchers (SLPs, linguists, phoneticians, and speech scientists) who have worked in 43 countries and used 27 languages in professional practice. Seventeen panel members met for a 1-day workshop to identify key points for inclusion in the tutorial, 26 panel members contributed to writing this tutorial, and 34 members contributed to revising this tutorial online (some members contributed tomore than 1 task). Results: This tutorial draws on international research evidence and professional expertise to provide a comprehensive overview of working with multilingual children with suspected speech sound disorders. This overview addresses referral, case history, assessment, analysis, diagnosis, and goal setting and the SLPâs cultural competence and preparation for working with interpreters and multicultural support workers and dealing with organizational and government barriers to and facilitators of culturally competent practice. Conclusion: The issues raised in this tutorial are applied in a hypothetical case study of an English-speaking SLPâs assessment of a multilingual Cantonese-and English-speaking 4-year-old boy. Resources are listed throughout the tutorial.</p