Results 221 to 230 of about 353,121 (342)

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

A retrospective case report on demographic changes of learners at a school for children with Autism Spectrum Disorder in the Gauteng Province

, 2015
Sumari van Biljon, Alta Kritzinger, Salomé Geertsema   +2 more
openalex   +2 more sources

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

Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients

, 2014
Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, Elena Maestrini, Marco Seri, Giovanni Romeo   +20 more
openalex   +1 more source

A Review for Existing Complementary and Alternative Medical Therapies for Autism Spectrum Disorder

, 2020
Xinyi Yin
openalex   +2 more sources

Autism Spectrum Disorder [PDF]

, 2019
National Institute of Neurological Disorders and Stroke (NINDS)
openalex   +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

Development of a Mobile App to Improve Numeracy Skills of Children With Autism Spectrum Disorder: Participatory Design and Usability Study (Preprint)

, 2020
Theoneste Ntalindwa, Mathias Nduwingoma, Evariste Karangwa, Tanjir Rashid Soron, Alphonse Uworwabayeho, Annette Uwineza   +5 more
openalex   +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

Bifidobacterium longum subsp. longum CCFM1375 Mitigates Chronic Kidney Disease Progression via Gut Microbiota Modulation and Gut Barrier Restoration

Food Frontiers, EarlyView.
(1) Bifidobacterium longum subsp. longum CCFM1375 restored gut barrier integrity by upregulating ZO‐1/ZO‐2 and suppressing IL‐6/TNF‐α, thereby reducing serum LPS and improving creatinine/BUN levels. (2) Reshaped gut microbiota: enriched beneficial species (Faecalibaculum rodentium, Asaccharobacter celatus, Adlercreutzia equolifaciens) while suppressing
Hongchao Wang, Xinchen Lv, Yue Zhang, Jinlin Zhu, Jia Hua, Bin Liu, Jianxin Zhao, Hao Zhang, Wei Chen, Wenwei Lu, Zhijian Zhang, Liang Wang   +11 more
wiley   +1 more source