Supporting neurodivergent nursing students in their practice placements
This article details the strengths that neurodivergent students can bring to nursing, as well as some of the challenges they may experience in practice settings. It outlines how practice assessors and supervisors can develop neuro-inclusive learning environments where neurodivergent students can thrive, as well as how to support them if they are not meeting their required proficiencies. The authors also discuss how appropriate reasonable adjustments can be implemented by using a collaborative approach with students.PMID:38616773 | DOI:10.7748/ns.2024.e12262 (Source: Nursing Standard)
Source: Nursing Standard - April 15, 2024 Category: Nursing Authors: Rachael Major Chloe Jackson Jade Wareham Jessica Pidcock Source Type: research

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2
ConclusionThe majority of the other reported mutations are frameshift mutations upstream of the SET domain and are predicted to result in protein truncation. It is thought that truncation of the SET domain, results functionally in an inability to modify chromatin through histone methylation. This report expands the clinical and genetic characterisation of Kleefstra syndrome 2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 27, 2023 Category: Genetics & Stem Cells Authors: Whitney Whitford, Juliet Taylor, Ian Hayes, Warwick Smith, Russell G. Snell, Klaus Lehnert, Jessie C. Jacobsen Tags: ORIGINAL ARTICLE Source Type: research

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2
CONCLUSION: The majority of the other reported mutations are frameshift mutations upstream of the SET domain and are predicted to result in protein truncation. It is thought that truncation of the SET domain, results functionally in an inability to modify chromatin through histone methylation. This report expands the clinical and genetic characterisation of Kleefstra syndrome 2.PMID:38146907 | DOI:10.1002/mgg3.2350 (Source: Molecular Medicine)
Source: Molecular Medicine - December 26, 2023 Category: Molecular Biology Authors: Whitney Whitford Juliet Taylor Ian Hayes Warwick Smith Russell G Snell Klaus Lehnert Jessie C Jacobsen Source Type: research

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2
CONCLUSION: The majority of the other reported mutations are frameshift mutations upstream of the SET domain and are predicted to result in protein truncation. It is thought that truncation of the SET domain, results functionally in an inability to modify chromatin through histone methylation. This report expands the clinical and genetic characterisation of Kleefstra syndrome 2.PMID:38146907 | DOI:10.1002/mgg3.2350 (Source: Molecular Medicine)
Source: Molecular Medicine - December 26, 2023 Category: Molecular Biology Authors: Whitney Whitford Juliet Taylor Ian Hayes Warwick Smith Russell G Snell Klaus Lehnert Jessie C Jacobsen Source Type: research

Anthropometric, physical activity, and psychological characteristics of Korean adults with and without developmental coordination disorder (DCD)
This study aims to address this knowledge gap by employing a battery of questionnaires to assess anthropometric, physical activity, and psychological traits in a cohort of 377 Korean adults, encompassing those with DCD (n = 54) alongside TD counterparts (n = 323). It was hypothesized that Korean adults with DCD would exhibit higher body mass index and lower ratings in physical activity and psychological characteristics than TD, consistent with the previous studies performed in other countries on children. The results showed no statistically significant differences between the DCD and TD groups in anthropometric characteris...
Source: Frontiers in Human Neuroscience - December 21, 2023 Category: Neuroscience Source Type: research

Genes, Vol. 14, Pages 1843: From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome
lo Antonio Novelli Andrea Bartuli Lorenzo Sinibaldi Marco Tartaglia Giuseppe Zampino CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-function variants in the CTNNB1 gene. Due to paucity of data, this study intends to describe feeding issues and oral-motor dyspraxia in an unselected cohort of 10 patients with a confirmed molecular diagnosis. Pathogenic variants along with key information regarding oral-motor features were ...
Source: Genes - September 22, 2023 Category: Genetics & Stem Cells Authors: Roberta Onesimo Elisabetta Sforza Valentina Trevisan Chiara Leoni Valentina Giorgio Donato Rigante Eliza Maria Kuczynska Francesco Proli Cristiana Agazzi Domenico Limongelli Maria Cistina Digilio Maria Lisa Dentici Maria Macchiaiolo Antonio Novelli Andrea Tags: Article Source Type: research

Visual and kinesthetic motor imagery in adults with different degrees of self-reported motor coordination difficulties
Hum Mov Sci. 2023 Aug 10;91:103137. doi: 10.1016/j.humov.2023.103137. Online ahead of print.ABSTRACTDevelopmental Coordination Disorder (DCD) involves difficulties in performing coordinated movements with fine and/or gross motor skills deficits. Several studies showed that DCD is characterized by motor imagery deficits as well. Here we investigated in neurotypical adults (N = 334) the relationships between the ease of imaging two main motor imagery components, that is the visual and the kinesthetic one, self-reported motor coordination difficulties and handwriting speed. Self-reported motor difficulties were measured by th...
Source: Human Movement Science - August 12, 2023 Category: Neurology Authors: Chiara Baiano Isa Zappullo Roberta Cecere Gennaro Raimo Massimiliano Conson Source Type: research

Effective inclusion practices for neurodiverse children and adolescents in informal STEM learning: a systematic review protocol
DiscussionThe synthesis of the findings resulting from various research and evaluation designs, across the K-12 age span, and across various informal STEM learning contexts, will lead to depth and breadth of understanding of ways to improve informal STEM learning programs for neurodiverse children and youth. The identification of informal STEM learning program components and contexts shown to yield positive results will provide specific recommendations for improving inclusiveness, accessibility, and STEM learning for neurodiverse children and youth.Trial registrationThe current study has been registered in PROSPERO. Regist...
Source: Systematic Reviews - July 1, 2023 Category: International Medicine & Public Health Source Type: research

Orofacial myofunctional reeducation: how to handle simple in office cases?
CONCLUSION: Further studies such as a clinical trial could compare the validity of the WBR indication obtained by an orthodontist using the decision tree with the blinded indication given by a physical therapist. In addition, the effectiveness of in-office rehabilitation could be evaluated using a control group.PMID:37114811 | DOI:10.1684/orthodfr.2023.121 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - April 28, 2023 Category: Dentistry Authors: H élène Gil Barbara Martini Marjolaine Tichit Philippe Amat Sarah Gebeile-Chauty Source Type: research

Orofacial myofunctional reeducation: how to handle simple in office cases?
CONCLUSION: Further studies such as a clinical trial could compare the validity of the WBR indication obtained by an orthodontist using the decision tree with the blinded indication given by a physical therapist. In addition, the effectiveness of in-office rehabilitation could be evaluated using a control group.PMID:37114811 | DOI:10.1684/orthodfr.2023.121 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - April 28, 2023 Category: Dentistry Authors: H élène Gil Barbara Martini Marjolaine Tichit Philippe Amat Sarah Gebeile-Chauty Source Type: research

Orofacial myofunctional reeducation: how to handle simple in office cases?
CONCLUSION: Further studies such as a clinical trial could compare the validity of the WBR indication obtained by an orthodontist using the decision tree with the blinded indication given by a physical therapist. In addition, the effectiveness of in-office rehabilitation could be evaluated using a control group.PMID:37114811 | DOI:10.1684/orthodfr.2023.121 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - April 28, 2023 Category: Dentistry Authors: H élène Gil Barbara Martini Marjolaine Tichit Philippe Amat Sarah Gebeile-Chauty Source Type: research

Orofacial myofunctional reeducation: how to handle simple in office cases?
CONCLUSION: Further studies such as a clinical trial could compare the validity of the WBR indication obtained by an orthodontist using the decision tree with the blinded indication given by a physical therapist. In addition, the effectiveness of in-office rehabilitation could be evaluated using a control group.PMID:37114811 | DOI:10.1684/orthodfr.2023.121 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - April 28, 2023 Category: Dentistry Authors: H élène Gil Barbara Martini Marjolaine Tichit Philippe Amat Sarah Gebeile-Chauty Source Type: research

Orofacial myofunctional reeducation: how to handle simple in office cases?
CONCLUSION: Further studies such as a clinical trial could compare the validity of the WBR indication obtained by an orthodontist using the decision tree with the blinded indication given by a physical therapist. In addition, the effectiveness of in-office rehabilitation could be evaluated using a control group.PMID:37114811 | DOI:10.1684/orthodfr.2023.121 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - April 28, 2023 Category: Dentistry Authors: H élène Gil Barbara Martini Marjolaine Tichit Philippe Amat Sarah Gebeile-Chauty Source Type: research

Orofacial myofunctional reeducation: how to handle simple in office cases?
CONCLUSION: Further studies such as a clinical trial could compare the validity of the WBR indication obtained by an orthodontist using the decision tree with the blinded indication given by a physical therapist. In addition, the effectiveness of in-office rehabilitation could be evaluated using a control group.PMID:37114811 | DOI:10.1684/orthodfr.2023.121 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - April 28, 2023 Category: Dentistry Authors: H élène Gil Barbara Martini Marjolaine Tichit Philippe Amat Sarah Gebeile-Chauty Source Type: research

Orofacial myofunctional reeducation: how to handle simple in office cases?
CONCLUSION: Further studies such as a clinical trial could compare the validity of the WBR indication obtained by an orthodontist using the decision tree with the blinded indication given by a physical therapist. In addition, the effectiveness of in-office rehabilitation could be evaluated using a control group.PMID:37114811 | DOI:10.1684/orthodfr.2023.121 (Source: L' Orthodontie Francaise)
Source: L' Orthodontie Francaise - April 28, 2023 Category: Dentistry Authors: H élène Gil Barbara Martini Marjolaine Tichit Philippe Amat Sarah Gebeile-Chauty Source Type: research