Results 101 to 110 of about 1,437,159 (301)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

The Emotional Impact of Family Involvement during Homework in Children with Neurodevelopmental Disorders: A Systematic Review

Neurodevelopmental disorders can be studied from two distinct perspectives: an internal approach, which examines the causes and consequences of these disorders; and a contextual approach, which considers the role of the family in the lives of children ...
Tania Pasarín-Lavín, José Carlos Núñez, Amanda Abín, Pasarin Lavín, Tania, Rodríguez Pérez, Celestino, Abín Álvarez, Amanda, Núñez Pérez, José Carlos, Débora Areces, Areces Martínez, Debora, Celestino Rodríguez   +9 more
core   +1 more source

Human Foetal Neuroblasts Exhibit BK Channel‐Dependent Membrane Voltage Oscillations upon Depolarization

Advanced Science, EarlyView.
Primary cultures of neuroblasts isolated from the nucleus basalis of Meynert of 12‐weeks‐old human foetuses were prepared. Whole‐cell patch‐clamp recordings were performed by injecting a depolarizing stimulus current (+500 pA; 500 ms), and the membrane voltage recorded; this stimulus current evoked periodic‐like oscillations in membrane voltage ...
Elisabetta Coppi, Federica Cherchi, Martina Venturini, Federico Tommasi, Sandro Gonzi, Chiara Capacci, Giulia Guarnieri, Pasquale Gallina, Annamaria Morelli, Anna Maria Pugliese   +9 more
wiley   +1 more source

A diffusion-weighted imaging tract-based spatial statistics study of autism spectrum disorder in preschool-aged children

Journal of Neurodevelopmental Disorders, 2019
Background The core symptoms of autism spectrum disorder (ASD) are widely theorized to result from altered brain connectivity. Diffusion-weighted magnetic resonance imaging (DWI) has been a versatile method for investigating underlying microstructural ...
Derek Sayre Andrews, Joshua K. Lee, Marjorie Solomon, Sally J. Rogers, David G. Amaral, Christine Wu Nordahl   +5 more
doaj   +1 more source

Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome

Journal of Neurodevelopmental Disorders, 2017
Background Existing literature draws links between social attention and socio-behavioural profiles in neurodevelopmental disorders. Fragile X syndrome (FXS) is associated with a known socio-behavioural phenotype of social anxiety and social communication
Hayley Crawford, Joanna Moss, Chris Oliver, Deborah Riby   +3 more
doaj   +1 more source

Neurodevelopmental Disorders among Indian Children: Needs Attentio

, 2012
Neurodevelopmental disabilities (NDDs) have always been an important concern but yet to be considered as a significant public health problem for children of low and middle income countries including India.
Mark Rohit Francis, Suresh Kumar Rathi
core  

Targeting the KCNC3‐Dependent Anterior Insular‐Lateral Orbitofrontal Cortex Glutamatergic Circuit Attenuates Post‐Traumatic Anxiety

Advanced Science, EarlyView.
Frontal lobe traumatic brain injury is associated with hyperactivity of an insular–orbitofrontal circuit in both patients and mice. By combination of integrating functional imaging, cell‐type–specific circuit manipulation, single‐cell transcriptomics, and whole‐cell recordings, this work identifies the downregulation of the potassium channel KCNC3 in ...
Meng‐Ge Li, Xiao‐Bo Qian, Hai‐Long Zhang, Di Li, Ling Ji, Xin‐Chun Xu, Jia‐Sheng Ding, Li‐Jun Yin, Li Zhang, Guang‐Yin Xu, Rong Gao   +10 more
wiley   +1 more source

The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural adaptation and validation into the Dutch language for the Netherlands

Journal of Patient-Reported Outcomes
Background Half of the patients with Neurofibromatosis type 1 (NF1) develop one or more tumours called plexiform neurofibromas, which can have a significant impact on Quality of Life (QoL). The PlexiQoL questionnaire is a disease-specific QoL measure for
Britt A. E. Dhaenens, Sarah A. van Dijk, Walter Taal, D. Christine Noordhoek, Anna Coffey, Stephen P. McKenna, Rianne Oostenbrink   +6 more
doaj   +1 more source

The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons

Molecular Autism, 2019
Background Although neuronal extracellular sensing is emerging as crucial for brain wiring and therefore plasticity, little is known about these processes in neurodevelopmental disorders.
Ilaria Tonazzini, Geeske M. Van Woerden, Cecilia Masciullo, Edwin J. Mientjes, Ype Elgersma, Marco Cecchini   +5 more
doaj   +1 more source

Effects of Bilingualism on Executive Function of Children with Neurodevelopmental Disorders: A Scoping Review

Background: Children with neurodevelopmental disorders (NDDs) commonly experience executive function (EF) impairments that impact daily life and academics. While bilingualism has generally been associated with cognitive advantages in typically developing
Caicai Zhang, Catherine M. Capio, Haoyan Ge, Yuen Ting Wong, Eva Y. W. Chan, Hoi Kwan Yuen, William W. N. Tsang   +6 more
core   +1 more source