Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.

Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations.

Patterns of Screen Time From Ages 2 to 6-7 Years in South Brazil: A Prospective Study.

Background: Screen use has become nearly universal, especially in children. Therefore, it is important not only to comprehend its effects on health but also to understand its patterns of use. We aim to describe screen use patterns among children assessed at 2, 4, and 6-7 years, based on device, period of the day, and child/family characteristics.

Incongruent Expectations: A Qualitative Study of the Gendered Experiences of Canadian Young People.

While the early mental health of girls and boys is similar, as children age, girls tend to report worse mental health than boys. Explanations for these gendered disparities remain elusive. This study seeks to understand the social context in which mental health experiences are shaped.

Building a growing genomic repository for maternal and fetal health through the PING Consortium.

Background: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome.

Randomized controlled trial of cognitive behavioral therapy versus health education for sleep disturbance and fatigue following stroke and traumatic brain injury.

Objective: Evaluate efficacy of cognitive behavioural therapy for sleep and fatigue adapted for brain injury relative to health education control in alleviating sleep disturbance and fatigue after acquired brain injury.

Design: Parallel groups randomized controlled trial.

Subjects: 126 community dwelling adults with stroke or traumatic brain injury.