Publications by authors named "Brittain H"

Article Synopsis
  • KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
  • A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
  • Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
View Article and Find Full Text PDF

The behavioral and neural responses to social exclusion were examined in women randomized to four conditions, varying in levels of attractiveness and friendliness. Informed by evolutionary theory, we predicted that being socially excluded by attractive unfriendly women would be more distressing than being excluded by unattractive women, irrespective of their friendliness level. Our results contradicted most of our predictions but provide important insights into women's responses to interpersonal conflict.

View Article and Find Full Text PDF

A new measure to assess friendship jealousy in the context of social media was developed. This one-factor, seven-item measure was psychometrically sound, showing evidence of validity and reliability in three samples of North American adults (Study 1, = 491; Study 2, = 494; Study 3, = 415) and one-, two-, and three-year stability (Study 3). Women reported more social media friendship jealousy than men (Studies 2 and 3) and younger women had the highest levels of social media friendship jealousy (compared with younger men and older men and women; Study 2).

View Article and Find Full Text PDF

The COVID-19 pandemic has resulted in many changes that may impact anxiety symptoms (i.e., general anxiety and somatization), particularly for young adults who were at higher risk for anxiety than older adults.

View Article and Find Full Text PDF

The rates of bullying during the COVID-19 pandemic, a time of unprecedented public health and social restrictions, were compared to earlier times when students attended school in person. Several studies indicated a notable decrease in the prevalence of bullying victimization and perpetration during the pandemic, particularly when online learning was implemented. But studies from countries with fewer social restrictions indicated increases in rates of bullying during the pandemic.

View Article and Find Full Text PDF

Love withdrawal is a form of interpersonal manipulation that shares many features with relational aggression; its use by children has not been examined. Guided by social learning theory, we sought to investigate the prevalence of toddlers' use of love withdrawal toward caregivers (parents and teachers) and further investigate how this behavior was associated with relational and physical aggression and parents' use of love withdrawal. These aims were examined using parent and teacher reports in a sample of 198 toddlers (M  = 33.

View Article and Find Full Text PDF
Article Synopsis
  • Glioma is a rare but aggressive brain tumor, with familial glioma being a genetically influenced form that makes up about 5% of cases.
  • Researchers conducted whole-genome sequencing on 203 individuals from 189 families with familial glioma, also validating findings in a separate group of 122 individuals.
  • The study identified significant variants in seven genes, particularly affecting tumor cell proliferation, highlighting the importance of these genes in understanding familial glioma.
View Article and Find Full Text PDF

Failure to meet educational expectations in adolescence can derail an individual's potential, leading to hardship in adulthood. Lower academic achievement is also associated with poorer mental health, and both share common pathways to adult functional outcomes like employment status and economic security. Although linked in adolescence, and predictive of similar outcomes in adulthood, methodological and analytical limitations of the literature do not permit the assessment of the temporal priority between academic achievement and mental health.

View Article and Find Full Text PDF

School transitions are common educational experiences for children and adolescents and many of them worry about being bullied during this type of major life-changing point. In a sample of 701 Canadians assessed yearly from grade 5 (age 10) to grade 12 (age 18), we examined heterogeneous patterns of bullying involvement while statistically accounting for the transition into high school. Gender differences were also examined.

View Article and Find Full Text PDF

Background: Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene panels associated with the patient's phenotype. However, panels rely on clearly characterised phenotypes and risk missing diagnoses outside of the panel(s) applied.

View Article and Find Full Text PDF

Introduction: ERF mutation is one of the most recently identified genetic aberrations associated with syndromic craniosynostosis. Data on the pattern of craniosynostosis, surgical management of ERF-related craniosynostosis and outcomes is limited. We report on our single-centre experience in paediatric cohort of patients with syndromic craniosynostosis secondary to ERF mutation.

View Article and Find Full Text PDF

Purpose: The study aimed to identify novel genes for idiopathic hypogonadotropic hypogonadism (IHH).

Methods: A cohort of 1387 probands with IHH underwent exome sequencing and de novo, familial, and cohort-wide investigations. Functional studies were performed on 2 p190 Rho GTPase-activating proteins (p190 RhoGAP), ARHGAP35 and ARHGAP5, which involved in vivo modeling in larval zebrafish and an in vitro p190A-GAP activity assay.

View Article and Find Full Text PDF

Transactional models employing cross-lagged panels have been used for over 40 years to examine the longitudinal relations and directional associations between variables of interest to child and adolescent mental health. Through a narrative synthesis of the literature, we provide an accessible overview of cross-lagged panels with attention to developing a research question, study design and assumptions, dynamic effects (including the random-intercept cross-lagged panel model), and reporting and interpretation of results. Implications and critical appraisal guidelines for readers are discussed throughout.

View Article and Find Full Text PDF

Background: Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60-80% of cases are idiopathic, but a well-recognised genetic cause is the motile ciliopathy, primary ciliary dyskinesia (PCD). Diagnosis of PCD has management implications including addressing comorbidities, implementing genetic and fertility counselling and future access to PCD-specific treatments.

View Article and Find Full Text PDF

Purpose: Exome and genome sequencing have drastically accelerated novel disease gene discoveries. However, discovery is still hindered by myriad variants of uncertain significance found in genes of undetermined biological function. This necessitates intensive functional experiments on genes of equal predicted causality, leading to a major bottleneck.

View Article and Find Full Text PDF

Many have examined the desirability and mate competition tactics of adults higher on psychopathy using cross-sectional data, but few have studied the longitudinal associations between the lower-order factors of psychopathy (e.g., primary and secondary psychopathy) with indices of mating behavior in adolescents.

View Article and Find Full Text PDF

Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.

View Article and Find Full Text PDF

Background: Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the 'cell's antenna'. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service (NHS) patients with eligible rare diseases and cancer. Sequence data were linked to Human Phenotype Ontology (HPO) terms entered by recruiting clinicians.

View Article and Find Full Text PDF

Purpose: Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic sensitivity. We evaluated the performance of the Genomics England 100,000 Genomes Project (100kGP) panel-based pipelines, using craniosynostosis as a test disease.

Methods: GS data from 114 probands with craniosynostosis and their relatives (314 samples), negative on routine genetic testing, were scrutinized by a specialized research team, and diagnoses compared with those made by 100kGP.

View Article and Find Full Text PDF

Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Harmonization efforts are hampered by the lack of agreed terminology, agreed gene curation standards, and platforms that can be used to identify and resolve discrepancies at scale. We undertook a systematic comparison of the content of 80 virtual gene panels used in two healthcare systems by multiple diagnostic providers in the United Kingdom and Australia.

View Article and Find Full Text PDF

We examined the impact of COVID-19 on bullying prevalence rates in a sample of 6578 Canadian students in Grades 4 to 12. To account for school changes associated with the pandemic, students were randomized at the school level into two conditions: (1) the pre-COVID-19 condition, assessing bullying prevalence rates retrospectively before the pandemic, and (2) the current condition, assessing rates during the pandemic. Results indicated that students reported far higher rates of bullying involvement before the pandemic than during the pandemic across all forms of bullying (general, physical, verbal, and social), except for cyber bullying, where differences in rates were less pronounced.

View Article and Find Full Text PDF

Background: Decision-makers need quantifiable data on costs and outcomes to determine the optimal mix of antenatal models of care to offer. This study aimed to examine the cost utility of a publicly funded Midwifery Group Practice (MGP) caseload model of care compared to other models of care and demonstrate the feasibility of conducting such an analysis to inform service decision-making.

Objective: To provide a methodological framework to determine the value of public midwifery in different settings.

View Article and Find Full Text PDF

We examined the temporal precedence between perceived peer rejection, rejection sensitivity, depression, and aggression in a sample of 544 adolescents (55.7% girls; M = 14.96 years at the first measured time point) assessed yearly from Grade 9 to Grade 12.

View Article and Find Full Text PDF