2022
article
OpenAlex
Helen Care, Carrie Luscombe, Steven Arthur Wall, Louise J. Dalton et autres
ABSTRACT: Pathogenic variants of the ERF gene were previously associated with craniosynostosis, craniofacial dysmorphism and Chiari malformation. This study investigates cognitive, behavioural, speech, language, and developmental outcomes in the first 5 children identified at the Oxford Craniofacial Unit as having ERF- related …
gb
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Accès ouvert
2022
article
OpenAlex
Claire Marie Guest, Sarah Y. Dewhirst, Steve W. Lindsay, David James Allen et autres
BACKGROUND: A rapid, accurate, non-invasive diagnostic screen is needed to identify people with SARS-CoV-2 infection. We investigated whether organic semi-conducting (OSC) sensors and trained dogs could distinguish between people infected with asymptomatic or mild symptoms, and uninfected individuals, and the impact of …
gb, fr, th, vn
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2021
article
OpenAlex
Abigail V. Shaw, Patrick Kennedy–Williams, Helen Care, Louise J. Dalton et autres
ABSTRACT: The coronal incision is the mainstay for access in craniosynostosis surgery. Scarring is a common concern of parents whose children are offered an open procedure. To the author's knowledge, there are no previous studies looking at the psychosocial impact of scarring …
gb
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2021
article
OpenAlex
Patrick Kennedy–Williams, Helen Care, Louise J. Dalton, Jo Horton et autres
ABSTRACT: Heterozygous mutations in the TCF12 gene were discovered in 2013 as a cause of craniosynostosis (CS). However, limited information regarding the behavioral phenotypic profile is available. Here the authors provide the first detailed study of the neurodevelopmental, cognitive, and psychosocial outcomes …
gb
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2020
article
OpenAlex
Helen Care, Patrick Kennedy–Williams, Laura Culshaw, Alexandra R. Cunliffe et autres
ABSTRACT: The Craniofacial Collaboration UK (CC-UK) is a joint initiative that seeks to address some of the limitations of previous developmental research with this patient group by providing systematically collected, robust data from clinically and chronologically homogenous representative samples of children. The …
gb
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2020
article
OpenAlex
Sophie Dupré‐Crochet, Helen Care, Zoe Gordon, Steven Arthur Wall et autres
The purpose of this retrospective study was to assess the genetic and phenotypic features of patients with craniofrontonasal syndrome (CFNS), and the implications of the condition for multidisciplinary management.The subjects were 25 female patients with a mutation of EFNB1, who presented to …
gb
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2019
article
OpenAlex
Helen Care, Patrick Kennedy–Williams, Alexandra R. Cunliffe, Susie Denly et autres
The Craniofacial Collaboration United Kingdom (CC-UK) was established across the 4 Highly Specialized Craniofacial Centres (HSCCs) in the UK in 2015. This is the first wave of data to be analyzed, looking at 3-year-old children with sagittal synostosis who have had primary …
gb
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Accès ouvert
2019
article
OpenAlex
Helen Care, Louise J. Dalton, Laura Culshaw, Jo Horton et autres
Introduction: The Craniofacial Collaboration UK (the CC-UK) is a Clinical Psychology-led developmental screening pathway for patients from the 4 Highly Specialised Craniofacial Centres in the UK (HSCC). The current paper is the first comparison across suture types, examining the results for 3 …
gb, us
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Accès ouvert
2019
article
OpenAlex
Patrick Kennedy–Williams, Helen Care, Louise J. Dalton, Esme Huggons et autres
Introduction: Autism spectrum disorders (ASDs) are lifelong neurodevelopmental disabilities affecting a person’s social communication, interests and behaviour. Often research into neurodevelopmental outcomes in craniosynostosis (CS) does not explore ASDs. However there is some evidence of increased prevalence of neurodevelopmental disorders (including ASDs) …
gb
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Accès ouvert
2019
article
OpenAlex
David Johnson, Sara A. Wall, Helen Care, Patrick Kennedy–Williams et autres
Introduction: Most studies reporting surgical outcomes in craniosynostosis are often cohort based and lack longitudinal and continual reporting making it difficult to see trends in practice and compare centres. In addition clinician ratings are not predictive of psychological adjustment. To address these …
gb
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Accès ouvert
2019
article
OpenAlex
Laura Culshaw, Anna Kearney, Katie Piggott, Hayman Thornhill et autres
Introduction: The CC-UK is a nationally-led Psychology screening protocol which collates patient data across the 4 Highly Specialised Craniofacial Centres in the UK (HSCC). Findings indicate neurodevelopmental test scores within average range for children with single suture Craniosynostosis (SSC). However, risk of …
gb
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2018
article
OpenAlex
Helen Care, Jo Horton, Anna Kearney, Patrick Kennedy–Williams et autres
The clinical psychologists at the 4 highly specialized craniofacial centers in the United Kingdom have developed a systematic, developmental screening protocol, called the Craniofacial Collaboration UK (CC-UK). Previous systematic reviews of the literature into the developmental sequelae of single-suture craniosynostosis have identified …
gb, us
(code pays fourni par la source)