Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone +8 more
wiley +1 more source
Commonalities and differences in trait-like, risky, and utilitarian decision-making styles between abstinent heroin-dependent individuals and their siblings. [PDF]
Front PsychiatryYan WS, Lan Y, Liu SJ.
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
The experience of siblings attending multi-family therapy for adolescent eating disorders: a mixed-methods study. [PDF]
J Eat DisordFunderud I +6 more
europepmc +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak +3 more
wiley +1 more source
Attachment network, interparental conflict, and older siblings' behavior predicting toddler behavior problems. [PDF]
J Fam PsycholAl Bcherraoui M +3 more
europepmc +1 more source
Realising Aboriginal Community Controlled Approaches to Child Reunification
Australian Journal of Social Issues, EarlyView.ABSTRACT Reunification rates for Aboriginal and Torres Strait Islander children in out‐of‐home care (OOHC) in Australia are critically low, even though reunification is the preferred permanency outcome for children following removal, and despite a range of mechanisms and strategies ostensibly to support effective reunification. To better understand the
B. J. Newton +4 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT For adults with intellectual disability and their families, future planning and moving out of the family home in Australia will increasingly occur within the context of the National Disability Insurance Scheme (NDIS). As a market‐based, individualised funding system its impact on this transition remains largely unknown. This paper reports on a
I. Belperio +5 more
wiley +1 more source
Growth hormone deficiency in three siblings homozygous for a rare <i>GH1</i> haplotype. [PDF]
Front Endocrinol (Lausanne)Ribeiro AC +3 more
europepmc +1 more source