Results 271 to 280 of about 691,001 (359)

Adjunctive acetazolamide for drug‐resistant seizures in SLC6A1‐related neurodevelopmental disorder: An exploratory case series

Epilepsia Open, EarlyView.
Abstract Pathogenic variants in SLC6A1 cause a neurodevelopmental disorder characterized by developmental delay with behavioral disturbances, seizures, often pharmacoresistant, and a spectrum of movement disorders such as ataxia. A similar triad is observed in other monogenic conditions, such as SLC2A1, CHD2, and CACNA1A‐related disorders, where ...
Gia Melikishvili, Olivier Dulac, Otar Koniashvili, Giorgi Mamardashvili, Tamar Gachechiladze, Nazhi Tabatadze, Mariam Melikishvili, Rimma Gamirova, Tatyana Tomenko, Igor Bakhtin, Amber Freed, Elena Bossi, Bruria Ben‐Zeev, Gerhard Kluger, Antonio Falace, Antonella Riva, Kai Kaila, Pasquale Striano   +17 more
wiley   +1 more source

"I ask them what autism means for them": a qualitative study of staff experiences of working with autistic women and birthing people in community perinatal mental health teams. [PDF]

BMC Psychiatry
Westgate V, Thompson C, Caramaschi D, O'Mahen G.   +3 more
europepmc   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Autism traits and mental well-being: the mediating role of social camouflaging and the moderating role of social exclusion and public stigma. [PDF]

Sci Rep
Seçer I, Çimen F, Ulaş S, Tatlı E, Saatçı F, Pakiş A.   +5 more
europepmc   +1 more source

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, EarlyView.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source

Participatory Development of a Suicide Prevention Program for Autism Community Organizations. [PDF]

OTJR (Thorofare N J)
Kirby AV, Feldman K, Duncan-Ishcomer B, Kripke-Ludwig R, Joyce A, Lee W, Rodriguez K, Siddeek Z, Darlington A, Atisme A, Clark W, Murthi K, Wexler L, Nicolaidis C.   +13 more
europepmc   +1 more source

Affective Dimensions in Maternal Voice During Child Feeding in Mothers With and Without Eating Disorder History—Findings From a Machine Learning Analysis of Speech Data

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Eating disorder (ED) history may impact mother‐child communication during mealtimes and contribute to transgenerational transmission of ED. This study employed machine learning (ML) to identify speech characteristics during mother‐child feeding interactions, aiming for investigating whether vocalised affective characteristics differ ...
Jana Katharina Throm, Manuel Milling, Andreas Triantafyllopoulos, Alexander Kathan, Annica Franziska Dörsam, Johanna Löchner, Björn Schuller, Katrin Elisabeth Giel   +7 more
wiley   +1 more source

Reply to the letter 'Beyond overdiagnosis: reframing autism prevalence'. [PDF]

J Pediatr (Rio J)
Castro K, Riesgo R, Gadia C.
europepmc   +1 more source

Identifying Distinct Latent Profiles of Executive Functioning Among Adolescents and Adults With Anorexia Nervosa and Adolescent Healthy Controls

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Research suggests executive functioning (EF) inefficiencies contribute to anorexia nervosa (AN) onset and maintenance. Identifying EF subtypes in adolescents and adults with AN compared to healthy controls (HC) may provide insights into differences in illness severity, risk for prolonged illness, and highlight who could respond best ...
Jiana Schnabel, Marita Cooper, Kristin Stedal, Mark Rose, Betteke Maria van Noort, Deborah A. G. Drabick, Lauren B. Alloy, C. Alix Timko   +7 more
wiley   +1 more source