The emotional and psychiatric problems of adolescents on parole whose parents are substance users: A Brazilian cross-sectional study.

The aim of this study is to evaluate the associations between having parents with substance use problems, and having suffered neglect within the family, and behavioral problems (psychological and drug use) among adolescents. All the participants were enrolled on the socio-educational parole scheme, 'Assisted Freedom'. In this cross-sectional study, 150 adolescents were interviewed using the Drug Abuse Screening Test, Teen Addiction Severity Index, and Childhood Trauma Questionnaire. Ninety-five percent of the participants were male (n = 143), aged 13-17. Thirty percent of adolescents had a parent who used substances and had experienced neglect from their families. Those adolescents who were living with both parents (odds ratio adjusted (ORA) = 2.7, 95% confidence interval (CI) = 1.13-6.37), from a low-income family (ORA = 6.7, 95% CI = 1.85-24.22), experienced hallucinations (ORA = 2.8, 95% CI = 1.25-6.14), had problems controlling violent behavior (ORA = 2.6, 95% CI = 1.12-5.87), and were physically neglected (ORA = 3.0, 95% CI = 1.24-7.49) were more likely to have parents who used substances and to have experienced parental neglect. This article concludes that adolescents, who are on parole, come from families with high level of psychosocial vulnerabilities, including substance use, experience neglect by their families leading to adverse emotional and psychological states.

Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

Mutations of the mitofusin 2 (MFN2) gene have been reported to be the most common cause of the axonal form of Charcot-Marie-Tooth disease (CMT). The aim of this study was to describe a de novo MFN2 p.R104W mutation and characterize the associated phenotype. We screened the entire coding region of MFN2 gene and characterized its clinical phenotype, nerve conduction studies and sural nerve biopsy. Neuropsychological tests and brain MRI were also performed. A de novo mutation was found in exon 4 (c.310C>T; p.R104W). In addition to a severe and early onset axonal neuropathy, the patient presented learning problems, obesity, glucose intolerance, leukoencephalopathy, brain atrophy and evidence of myelin involvement and mitochondrial structural changes on sural nerve biopsy. These results suggest that MFN2 p.R104W mutation is as a hot-spot for MFN2 gene associated to a large and complex range of phenotypes.