Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description

Autor: Damien Wright, Aisling Kenny, Sarah Eley, Andrew G. McKechanie, Andrew C. Stanfield

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-9 (2022)

Abstract Background SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly bee

Externí odkaz: https://doaj.org/article/62f42a24715d4c0f851b5f3ecaea19b9

'A Group of Fellow Travellers Who Understand': Interviews With Autistic People About Post-diagnostic Peer Support in Adulthood

Autor: Catherine J. Crompton, Sonny Hallett, Christine McAuliffe, Andrew C. Stanfield, Sue Fletcher-Watson

Publikováno v: Frontiers in Psychology, Vol 13 (2022)

Receiving a diagnosis of autism in adulthood can be a life changing event, impacting identity, relationships, and mental health. A lack of post-diagnostic support has been highlighted by autistic adults, their allies, clinicians, and service provider

Externí odkaz: https://doaj.org/article/153a86a7ba514faeb3153a43ca420888

Age-related functional brain changes in FMR1 premutation carriers

Autor: Stephanie S.G. Brown, Shinjini Basu, Heather C. Whalley, Peter C. Kind, Andrew C. Stanfield

Publikováno v: NeuroImage: Clinical, Vol 17, Iss , Pp 761-767 (2018)

The FMR1 premutation confers a 40–60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and

Externí odkaz: https://doaj.org/article/2d8f663a8c8a4549ada43d19a6426111

Perspectives and Experiences of Autistic Multilingual Adults: A Qualitative Analysis

Autor: Andrew C. Stanfield, Antonella Sorace, Sue Fletcher-Watson, Bérengère G. Digard, Kathryn Nolte

Publikováno v: Autism Adulthood
Nolte, K, Fletcher-watson, S, Sorace, A, Stanfield, A & Digard, B G 2021, ' Perspectives and Experiences of Autistic Multilingual Adults: A Qualitative Analysis ', Autism in Adulthood, vol. 3, no. 4, pp. 310-319 . https://doi.org/10.1089/aut.2020.0067

BACKGROUND: The combined experience of autism and bilingualism is poorly understood, leading to poor support for autistic people in multilingual environments or those interested in languages. While most available studies focus on the language and cog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a5823b5f7ccdf1dd360e2bf4ffbb4c
https://doi.org/10.1089/aut.2020.0067

Fragile X syndrome: an overview of cause, characteristics, assessment and management

Autor: Hayley Crawford, Jane E. Roberts, Gaia Scerif, Scott S. Hall, Andrew C. Stanfield, Rebecca Lyndsey Hardiman, Chris Oliver, Jeremy Turk, David R Hessl, Leonard J Abbeduto

Publikováno v: Paediatrics and Child Health. 30:400-403

Fragile X syndrome (FXS) is the most common identifiable cause of inherited intellectual disability and autism spectrum conditions, and is associated with a range of physical, cognitive and behavioural characteristics. Alongside intellectual disabili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::935d42278138f8fdff635eff792bc434
https://doi.org/10.1016/j.paed.2020.08.007