Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis

The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early-onset vision loss were examined in Chuuk state, FSM, during an ocular genetics visit to study the elevated incidence of microphthalmia. Because of their low vision these patients were incorrectly assumed to have microphthalmia. A complete ophthalmological exam established a clinical diagnosis of LCA. Candidate gene exons were sequenced with a targeted retinal dystrophy panel. Five subjects in three related families were diagnosed with LCA. All five were from Tonoas Island, within the Chuuk Lagoon, with ages ranging from 6 months to 16 years. DNA sequencing of affected individuals revealed a homozygous CRB1 NM_201253.3:c.3134del pathogenic variant, which was heterozygous in their parents. CRB1 genotypes were confirmed by a PCR restriction assay. We report identification of a founder pathogenic variant in CRB1 responsible for autosomal recessive LCA in this isolated community. This discovery will lead to appropriate recurrence risk counseling.     

Substance use outcomes among individuals with severe mental illnesses receiving assertive community treatment: A systematic review

Assertive Community Treatment (ACT) is a multidisciplinary treatment approach to support people with severe mental illnesses (SMI) in their recovery. While the majority of ACT recipients report co-morbid substance use issues, limited reviews have evaluated the impact of receiving ACT services on substance use outcomes. The purpose of this systematic review was to evaluate the impact of ACT involvement on substance use outcomes among people with SMI. A systematic literature search was conducted including articles published prior to April 2021. Twenty-nine studies were included in this review. Of them, 15 studies implemented a controlled design (six studies demonstrated high quality) and 14 studies implemented a cohort design. From a synthesis of the reviewed studies, five areas of changes associated with substance use emerged including reduced alcohol and drug use severity, lower prevalence of alcohol and drug use, increased stage of change in substance use treatment, and fewer days of hospitalization and intoxication. Thus, future studies should examine the integration of substance use treatment services as part of ACT interventions for opportunities to enhance recovery outcomes among individuals with SMI.