Results 131 to 140 of about 19,233 (265)

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

The Network Model of Mentalization, Social Vulnerability, and the Self in Autism: A Comparison With Neurotypical Adults

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is characterized by alterations in social understanding and self‐related experience that overlap with broader dimensions of psychosocial vulnerability. These domains are tightly interconnected, motivating the use of analytic approaches that can capture their organization as complex associations rather than as ...
Szilárd Holka, Dániel Sörnyei, Ágota Vass, Levente Rónai, Kinga Farkas   +4 more
wiley   +1 more source

Auditory Sensitivity in Autism: A Systematic Review of Mismatch Negativity and Mismatch Field Responses

Autism Research, EarlyView.
ABSTRACT Auditory mismatch responses—mismatch negativity (MMN) and mismatch fields (MMF)—are well established electrophysiological markers of automatic auditory discrimination supported by short‐term sensory memory. These responses, typically elicited using passive oddball paradigms, are increasingly used to investigate sensory and language processing ...
Sara Cacciato‐Salcedo, Shreya Jaokar, Neil J. Ingham, Manuel S. Malmierca, Marija M. Petrinovic   +4 more
wiley   +1 more source

Relationship Between the Broad Autism Phenotype, Social Support, Emotion Regulation, and Depression in Parents of Children with Autism

, 2021
Associations between the Broad Autism Phenotype (BAP) and depressive symptoms among parents of children diagnosed with Autism Spectrum Disorder (ASD) has been well established.
VanNess, Chelsey
core  

Limited Discrepancy Between Cognitive Ability and Daily Living Skills in Autism: A Longitudinal Study From Ages 2–25

Autism Research, EarlyView.
ABSTRACT Many autistic individuals with average or higher cognitive abilities (also referred to as intelligence quotient; IQ) exhibit weaker than expected daily living skills (DLS). However, existing evidence is primarily cross‐sectional. This study examined: (1) how IQ‐DLS discrepancies develop from early childhood through early adulthood, (2) whether
Elaine B. Clarke, Catherine Lord, Vanessa H. Bal   +2 more
wiley   +1 more source

KIAA2022/NEXMIF c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review

Life
Pathogenic variants in the NEXMIF gene are associated with a broad neurodevelopmental phenotype, including autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy.
Catalina Mihaela Anastasescu, Veronica Gheorman, Simona Viorica Godeanu, Adriana Cojocaru, Floris Petru Iliuta, Mioara Desdemona Stepan, Victor Gheorman   +6 more
doaj   +1 more source

Informational and Normative Influence on Conformity in Autism

Autism Research, EarlyView.
ABSTRACT This preregistered study examined whether adults with autism spectrum disorder (ASD) show reduced social conformity and whether any such reduction depends on the type of social influence. Social conformity—the tendency to adjust one's judgments to align with those of others—is typically driven by normative (acceptance‐seeking) and ...
Akiko Kobayashi, Takuya Makino, Yuka Mizuno, Hirotaka Kosaka, Keise Izuma   +4 more
wiley   +1 more source

Does Ongoing Task Load Influence Prospective Remembering in Autism Spectrum Disorders?

Autism Research, EarlyView.
ABSTRACT Prospective memory (PM) refers to the cognitive ability to remember to carry out intended actions in the future. The present study investigated PM performance in autistic and non‐autistic adults as well as the impact of the cognitive load of the ongoing task on PM performance.
Daniela Nürnberg, Mareike Altgassen
wiley   +1 more source

Profiles of executive function in parents and siblings of individuals with autism spectrum disorders

, 2006
Delineation of a cognitive endophenotype for autism is useful both for exploring the genetic mechanisms underlying the disorder and for identifying which cognitive traits may be primary to it.
Maybery, M., Wong, D., Maybery, M, Maley, A, A. Maley, Hallmayer, J., D. V. M. Bishop, Hallmayer, J, Maley, A., D. Wong, M. Maybery, J. Hallmayer, Bishop, D. V. M., Wong, D, Bishop, DV, Bishop, Dorothy   +15 more
core   +1 more source

Lower Striatal and Cortical Calretinin Interneuron Density Associated With Altered Social Behavior in Cntnap2 Knockout Mice

Autism Research, EarlyView.
ABSTRACT Variants in the CNTNAP2 gene, encoding the cell adhesion molecule CASPR2, have been identified as genetic risk factors for autism spectrum disorder (ASD). However, the mechanisms through which CNTNAP2 dysfunction alters circuit function remain unknown.
Krisztina Sáfár, Vivien Szendi, Paulina Hoppa, Yutong Wang, Fanni Á. Seres, Szilvia Bartók, Tyler Teadora, Lei Shi, Árpád Dobolyi, Gina Puska, István Adorján   +10 more
wiley   +1 more source