New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome

We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome ( OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.

Sociodemographic Correlates of Transitions from Alcohol Use to Disorders and Remission in the Sao Paulo Megacity Mental Health Survey, Brazil

Aims: To evaluate sociodemographic correlates associated with transitions from alcohol use to disorders and remission in a Brazilian population. Methods: Data are from a probabilistic, multi-stage clustered sample of adult household residents in the Sao Paulo Metropolitan Area. Alcohol use, regular use (at least 12 drinks/year), DSM-IV abuse and dependence and remission from alcohol use disorders (AUDs) were assessed with the World Mental Health version of the Composite International Diagnostic Interview. Age of onset (AOO) distributions of the cumulative lifetime probability of each alcohol use stage were prepared with data obtained from 5037 subjects. Correlates of transitions were obtained from a subsample of 2942 respondents, whose time-dependent sociodemographic data were available. Results: Lifetime prevalences were 85.8% for alcohol use, 56.2% for regular use, 10.6% for abuse and 3.6% for dependence; 73.4 and 58.8% of respondents with lifetime abuse and dependence, respectively, had remitted. The number of sociodemographic correlates decreased from alcohol use to disorders. All transitions across alcohol use stages up to abuse were consistently associated with male gender, younger cohorts and lower education. Importantly, low education was a correlate for developing AUD and not remitting from dependence. Early AOO of first alcohol use was associated with the transition of regular use to abuse. Conclusion: The present study demonstrates that specific correlates differently contribute throughout alcohol use trajectory in a Brazilian population. It also reinforces the need of preventive programs focused on early initiation of alcohol use and high-risk individuals, in order to minimize the progression to dependence and improve remission from AUD.

Stigmatization of alcohol and other drug users by primary care providers in Southeast Brazil

This study reports on the views of Primary Health Care (PHC) providers in Southeast Brazil on the use of alcohol and other drugs which reflect stigma, moralization, or negative judgment. Six hundred nine PHC professionals from the Brazilian states of Sao Paulo and Minas Gerais took part in the study. The majority (86.5%) of these professionals were female. Attitudes toward the use of alcohol and other drugs were evaluated in comparison to Hansen`s disease, obesity, depression, schizophrenia. HIV/AIDS, and tobacco use. The use of tobacco, marijuana/cocaine, and alcohol were the most negatively judged behaviors (p < 0.05). Nursing assistants and community health care workers demonstrated the severest judgment of alcohol use. In addition, marijuana/cocaine addicts and alcoholics suffered the highest rate of rejection by professionals. The hypothesis that the use of alcohol and other drugs is a behavior stigmatized by health professionals being confirmed, it is important to develop strategies for changing provider attitudes in order to provide a higher quality of service to these patients. This study is important as a first study among PHC professionals about social stigma of alcohol and other drugs users. (C) 2009 Elsevier Ltd. All rights reserved.

The impact of perinatal and socioeconomic factors on mental health problems of children from a poor Brazilian city: a longitudinal study

Low birth weight and preterm birth, and social disadvantage may negatively affect mental health of children, but findings have been inconsistent. To assess the influence of perinatal and social factors on mental health problems in children aged 7-9 years. A random sample of 805 births in So Luis, Brazil was studied in 1997/1998 and again in 2005/2006. Perinatal, socioeconomic and demographic variables were assessed within 24 h after delivery. The Strengths and Difficulties Questionnaire (SDQ) was used to assess mental health problems in the children. Simple and multiple Poisson regressions were used for statistical analysis. The overall prevalence of mental health problems in the total sample was 47.7%. The prevalences of emotional and conduct problems were 58.2 and 48.8%, respectively. Only paternal age (< 20 years) was associated with mental health problems as measured by the full SDQ scale (prevalence ratio PR = 1.27). Children born to single mothers (PR = 1.31) and those with birth weight from 1,500 to 2,499 g (PR = 1.18) and from 2,500 to 2,999 g (PR = 1.17) had a higher risk of emotional problems, but those from low income families had a lower risk (PR = 0.80). Children with a father of less than 20 years had a higher risk of having problems with their peers (PR = 1.75). A maternal education of 9 years or over was inversely associated with peer (PR = 0.70) and conduct problems (PR = 0.73). Girls had a lower risk of conduct (PR = 0.77) and hyperactivity problems (PR = 0.68). A maternal education of 4 years or less increased the risk of hyperactivity (PR = 1.48). Socioeconomic and demographic conditions were better predictors of mental health problems in children than birth weight or preterm birth. However, since most effect sizes were small most mental health problems were, unexplained by the variables in the study.