Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Explaining the Parent-Child Relationship Based on Covid-19 Anxiety with the Intermediary Role of Emotional Security [PDF]
خانواده و پژوهش, 2023 This study set out to explain the parent-children relationship based on Covid-19 anxiety with the intermediary role of emotional security. This research had a correlational design.
F. Sadra, S. Imanian, S. Nabizadieh
doaj
Continuing bonds with the living : bereaved parents’ narratives of their emotional relationship with their children [PDF]
, 2017 © 2017 Cruse Bereavement Care.The death of a child can be seen as one of the most devastating experiences for parents which can result in a unique and enduring grief.
Nolte, Lizette +2 more
core +2 more sources
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Post-divorce parental conflict, maternal economic hardship, parent-child relationship and academic achievement among adolescents in divorced families [PDF]
, 2013 The purpose of this study was to determine the relationships between post-divorce parental conflict, maternal economic hardship and parent-child relationship with academic achievement in a sample of 800 adolescents of divorced families aged 15to 18 years
Esmaeili, Nooshin Sabour +1 more
core
Arthritis Care &Research, EarlyView.Objective There is growing interest in evaluating new strategies to delay or prevent posttraumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury. Methods Participants with a history of
Kevin Kennedy +9 more
wiley +1 more source
Stress Levels and Development: A Phenomenology of Autistic Children and Their Parents [PDF]
, 2010 Being a parent means taking on both the joys and struggles that come with it. When a parent discovers that his or her child has been diagnosed with autism spectrum disorder (ASD), the level of stress changes.
Wiggs, Tiffany R
core