Results 121 to 130 of about 2,523,609 (254)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Emotion Regulation Difficulties in Autism‐PTSD Co‐Occurrence

Autism Research, EarlyView.
ABSTRACT Autistic individuals face an increased risk of experiencing traumatic events and of being significantly affected by them, whether these events are life‐threatening or social in nature. Emotion regulation (ER) difficulties are central to both conditions, yet their role in this neuropsychiatric co‐occurrence remains under‐researched.
Eldar Fayena, Shir Shaked‐Ashkenazi, Michal Shoval, Mordi Benhamou, Nathaniel Laor, Danny Horesh, Ofer Golan   +6 more
wiley   +1 more source

Electroconvulsive Therapy for Catatonia in Autistic and Non‐Autistic Patients: An Observational Study on Course, Efficacy, Aggression, and Self‐Injury Outcomes

Autism Research, EarlyView.
ABSTRACT Catatonia occurs disproportionately in autistic individuals and may respond to electroconvulsive therapy (ECT), yet prior reports suggest greater treatment burden in this population. We compared longitudinal ECT utilization, safety, and clinical outcomes between autistic and non‐autistic patients with catatonia.
Joshua Ryan Smith, Maria Bonnee, Sarah Marler, Seri Lim, D. Catherine Fuchs, Rafael Tamargo, Isaac Baldwin, Christopher Maley, Ashley VanHaverbeck, Courtney Hamilton, Timothy Adegoke, Haozheng Xu, Jinyuan Liu, Zachary J. Williams, Jo Ellen Wilson, James Luccarelli   +15 more
wiley   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Parenting attitude towards children with autism spectrum disorders: the Japan environment and children’s study

BMJ Paediatrics Open
Objective The primary objective of this study was to investigate the parenting attitudes towards children with autism spectrum disorders in early childhood in Japan.Design This study was a cohort study. The participants were enrolled from January 2011 to
Zentaro Yamagata, , Takeo Nakayama, Reiko Kishi, Nobuo Yaegashi, Shuichi Ito, Chiharu Ota, Hidekuni Inadera, Michihiro Kamijima, Yukihiro Ohya, Koichi Hashimoto, Chisato Mori, Masayuki Shima, Narufumi Suganuma, Takahiko Katoh, Tomotaka Sobue, Shin Yamazaki, Seiji Kageyama, Shoichi Ohga, Keita Kanamori, Tomohisa Suzuki   +20 more
doaj   +1 more source

Anodal Transcranial Direct Current Stimulation Improves Social Behavior Alongside Neuroplastic Changes in a Tsc2+/− Rat Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by altered synaptic connectivity and network organization, resulting in profound impairments in social communication and interaction. Transcranial direct current stimulation (tDCS) represents a promising approach to modulate maladaptive plasticity associated with ASD;
Antonia Ramme, Rebecca Winter, Natalia Jarzebska, Fatih Ögel, Marten Julian Richter, Iveta Vojtechova, Christine Winter, Tomas Petrasek, Robert Waltereit, Nadine Bernhardt   +9 more
wiley   +1 more source

Unusual sensory experiences in people on the autism spectrum [PDF]

Past research has indicated that people diagnosed as being on the autism spectrum have unusual sensory experiences when compared with typically developing individuals (e. g., Tomchek & Dunn, 2007; Watling et al., 2001).
Henshall, Carolyn
core  

Recent Non‐Suicidal Self‐Injury in Autistic Adolescents and Adults: Characteristics, Clinical Correlates and Suicidal Thoughts and Behaviors

Autism Research, EarlyView.
ABSTRACT Non‐suicidal self‐injury (NSSI) is prevalent among autistic adolescents and adults, yet research on its clinical characteristics, functions, and association with suicidal thoughts and behaviors (STBs) in this population remains limited. This study compared these domains between autistic adolescents and adults with and without recent NSSI.
Safaa Eldeeb, Ligia Antezana, Caitlin M. Conner, Kelly B. Beck, Sarah E. Victor, Aliona Tsypes, Lori N. Scott, Carla A. Mazefsky   +7 more
wiley   +1 more source

Self‐ and Caregiver‐Reported Choice‐Making in Autistic Adults: Development and Validation of the AASPIRE–Choices and Decisions Scale

Autism Research, EarlyView.
ABSTRACT Self‐determination has been assessed as an internal psychological construct. External factors may also affect self‐determination, but opportunities to make choices and decisions remain understudied. We developed and evaluated the AASPIRE‐Choices and Decisions Scale (AASPIRE‐CDS), a new measure of autistic adults' opportunities to make choices ...
So Yoon Kim, Kristen Gillespie‐Lynch, Steven K. Kapp, Liu‐Qin Yang, Anna “Furra” Wallington, Dora M. Raymaker, Ian Moura, Katherine McDonald, Joelle Maslak, Rachel Kripke‐Ludwig, Andrea Joyce, Willi Horner‐Johnson, Emanuel Frowner, Mary Baker‐Ericzén, Christina Nicolaidis   +14 more
wiley   +1 more source

Characterizing Autism Phenotype Onset in the Electronic Health Records to Enable Age‐Specific Screening

Autism Research, EarlyView.
ABSTRACT Autism exhibits substantial phenotypic heterogeneity, yet age‐dependent variation in phenotypic profiles and onset timing remains poorly understood. We aimed to characterize stage‐specific phenotypes and temporal onset patterns of autism using longitudinal electronic health records (EHRs).
Fangyi Chen, Jerard Kneifati‐Hayek, Charlotte Zelin, Da Wu, Quan M. Nguyen, Casey N. Ta, Cong Liu, Kai Wang, Wendy K. Chung, Chunhua Weng   +9 more
wiley   +1 more source