Results 121 to 130 of about 241,537 (301)
Perceptions of parenting: mapping the gaps between expert and public understandings of effective parenting in Australia [PDF]
This report, published by the Parenting Research Centre, responds to the gaps between the expert knowledge and common assumptions among the Australian public about what effective parenting involves.
Ian Cosh +3 more
core
SPG4 and Dementia: Expanding the Clinical Spectrum
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
Background Experiencing gender‐based violence (GBV) is common among refugees. Intersecting systems of oppression can increase the risk of GBV and of suffering detrimental consequences, while concurrently creating barriers to meaningful support.
Anna Pérez‐Aronsson +12 more
doaj +1 more source
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen +7 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Parenting Practices of Resident Fathers: The Role of Marital and Biological Ties [PDF]
This paper uses data from the Fragile Families and Child Wellbeing Study to examine differences in the parenting behaviors of resident biological and social fathers on measures of engagement, shared responsibility, and cooperation in parenting ...
Sharon H. Bzostek +3 more
core
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Executive function refers to a set of cognitive processes essential for effectively managing complex tasks and enabling goal-directed behavior. Working memory (WM), one of the core executive functions, is the ability to temporarily hold and manipulate ...
Sophie Pollé +5 more
doaj +1 more source
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source

