Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.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
Parental Depression and Children’s Developmental Outcomes: The Mediating Influence of Parenting Behavior [PDF]
This paper uses data from a subsample of the Fragile Families and Child Well-being survey (N = 1,799) to examine the relationship between parental depression and children’s developmental outcomes.
Kristin Turney
core
Parenting Training for Intellectually Disabled Parents: A Cochrane Systematic Review
, 2011 Objectives: This article presents a Cochrane/Campbell systematic review of the evidence on the effect of parent training to support the parenting of parents with intellectual disabilities.
Esther Coren +5 more
core +1 more source
Impact of a Brief Family Skills Training Programme ("Strong Families") on Parenting Skills, Child Psychosocial Functioning, and Resilience in Iran: A Multisite Controlled Trial. [PDF]
Int J Environ Res Public Health, 2021 Haar K +5 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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
The Family Check-Up Online: A Telehealth Model for Delivery of Parenting Skills to High-Risk Families With Opioid Use Histories. [PDF]
Front Psychol, 2021 Stormshak EA +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Parents between present and future: intervention hypotheses to support parenting with a view to sustainability and social inclusion [PDF]
open--In recent decades, the role of parenting has been reshaped by neoliberal societal pressures and evolving expectations. Traditionally viewed as a vital aspect of adult life, parenting has transitioned into a "task" requiring specialized skills and ...
TERRANOVA, GIULIA
core
Single-Session, Internet-Based Cognitive Behavioral Therapy to Improve Parenting Skills to Help Children Cope With Anxiety During the COVID-19 Pandemic: Feasibility Study. [PDF]
J Med Internet Res, 2022 Korpilahti-Leino T +11 more
europepmc +1 more source