RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.

Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants having a large effect, offering opportunities for genetic discoveries and early therapeutic interventions. Here, the index case is an 18-year-old boy, who at 14 years of age had a decline in cognitive functioning over the course of a year and subsequently presented with catatonia, auditory and visual hallucinations, paranoia, aggression, mood dysregulation, and disorganized thoughts. Exome sequencing revealed a stop-gain mutation in RCL1 (NM_005772.

IQ predictors in pediatric opsoclonus myoclonus syndrome: a large international cohort study.

Aim: To determine predictors of full-scale IQ (FSIQ) in an international pediatric opsoclonus myoclonus syndrome (OMS) cohort.

Method: In this retrospective and prospective cohort study at three academic medical centers (2006-2013), the primary outcome measure, FSIQ, was categorized based on z-score: above average (≥+1), average (+1 to -1), mildly impaired (-1 to -2), and impaired (<-2). Univariate analysis and multivariable linear regression modeling using stepwise selection with Akaike's information criterion was performed to understand the relationship between exposures and FSIQ.

The utility of home problem pervasiveness and severity in classifying children identified with attention-deficit/hyperactivity disorder.

Given the propensity for clinical assessment of Attention-Deficit/Hyperactivity Disorder (ADHD) to focus on core behavioral symptoms, the current study examined how well other predictors classified children who were diagnosed with ADHD by licensed practitioners. Participants were 91 children (39 ADHD-identified, 52 without ADHD), aged 8 to 13 years. In addition to significantly more ADHD symptoms, the ADHD-identified group exhibited significantly more externalizing problems and internalizing symptoms, less adaptive functioning, and greater problem pervasiveness and severity.