Results 211 to 220 of about 39,746 (275)

Broad autism phenotype in typically developing children predicts performance on an eye-tracking measure of joint attention. [PDF]

J Autism Dev Disord, 2013
Swanson MR, Serlin GC, Siller M.
europepmc   +1 more source

Let's Co! The how‐to of working within a co‐production framework to devise, design and execute collaborative multisite clinical trials

British Journal of Clinical Psychology, EarlyView.
Abstract Objectives To document the steps undertaken in a full collaborative co‐production design process undertaken between a group of lived experience, clinical and research collaborators to determine the selection and design of three large‐scale, multisite, clinically focused studies (including two clinical trials) targeting eating disorders.
Sarah Maguire, Genevieve Pepin, Shannon Calvert, Stephanie Boulet, Sanna Barrand, Emma Bryant, Leah Brennan, Antonio Verdejo‐Garcia, Leilani Darwin, Claire Foldi, Elizabeth Rieger, Stephen Touyz, Bronwyn Carroll, Sam Ikin, Fiona Mitchell, Julian Robinson, Anna Rose, Sarah Barakat, Kristi Griffiths, Ian Hickie, Robyn Kruk, Melissa Pehlivan, Anita Raspovic, Peta Marks   +23 more
wiley   +1 more source

Beyond overdiagnosis: reframing autism prevalence through a neurodivergent phenotype lens. [PDF]

J Pediatr (Rio J)
Hauck S, de Oliveira LT.
europepmc   +1 more source

Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in persons with Down syndrome [PDF]

, 2012
Moss, J, Nelson, L, Oliver, C, Richards, C   +3 more
core  

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models. [PDF]

Cell Genom
Dubuc A, Renne T, Huguet G, Jacquemont S, Nowakowski T.   +4 more
europepmc   +1 more source

Neurodivergence and well‐being: The fulfilment of fundamental psychological needs, work‐related stress and life satisfaction

British Journal of Psychology, EarlyView.
Abstract This paper presents two complementary studies on the impact of neurodivergent conditions such as autism, AD(H)D, dyslexia/dyscalculia and giftedness on well‐being. In Study 1, survey data from 2157 participants in a true probabilistic sample of Dutch households show that respondents with autism and ADHD report significantly lower life ...
Jan van Rijswijk, Petru Lucian Curșeu
wiley   +1 more source

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence. [PDF]

Biomolecules
Krgovic D, Gradisnik P, Osterc Koprivsek A, Kogovsek A, Kokalj Vokac N, Stangler Herodez S.   +5 more
europepmc   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language [PDF]

, 2018
Fiala, Elise, Willing, Marcia
core   +1 more source