Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
Measurement tools for assessing parenting skills: A literature review
reservedLa valutazione delle competenze genitoriali è un tema di crescente rilevanza scientifica e pratica. La seguente tesi si propone di compiere una revisione sistematica della letteratura relativa agli strumenti testistici volti a misurare tali ...
ZANARDINI, MICHELA
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Parenting and Fundamental Movement Skills
Asian Social Science, 2014 This study aimed to determine differences between permissive and authoritarian parenting in play activities motion against the fundamental movement skills on second grade of elementary school students. This study used ex-post facto method that collects data through questionnaires and tests the appearance of motion.
openaire +2 more sources
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Modelling the potential for parenting skills interventions to reduce inequalities and population prevalence of children's mental health problems: Evidence from the Millennium Cohort Study. [PDF]
SSM Popul Health, 2021 Hope S +5 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Enhancing Teaching Recovery Techniques (TRT) with Parenting Skills: RCT of TRT + Parenting with Trauma-Affected Syrian Refugees in Lebanon Utilising Remote Training with Implications for Insecure Contexts and COVID-19. [PDF]
Int J Environ Res Public Health, 2021 El-Khani A +6 more
europepmc +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Early risk stratification may support clinical decision‐making in spontaneous intracerebral hemorrhage (ICH). We aimed to develop and internally validate HAGIV, a score integrating frequency of imaging markers (FIM), a time‐adjusted non‐contrast computed tomography (CT) metric of hematoma expansion, with established predictors for 90‐
Lei Song +10 more
wiley +1 more source
Single and Married Mothers: A Comparison of Parenting Stress, Parenting Skills, and Self-Esteem [PDF]
, 1987 This study compared divorced custodial mothers and mothers married to the biological fathers of their children on parenting stress, parenting skills, and self-esteem.
Nichols, Linda Adams
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