Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling

Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at-risk individuals.     

SELECTING A COST-EFFECTIVE SCREENING MEASURE FOR THE ASSESSMENT OF PRESCHOOL SOCIAL WITHDRAWAL

The utility of teacher judgment (rankings, ratings) and peer judgment (sociometric ratings) were studied as screening variables for preschool social withdrawal/responsiveness. Observational measures of preschoolers' interaction were used as the validation criterion based upon theoretical, empirical, and practical considerations related to development of a multipurpose behavioral assessment system. Results indicated that teacher rankings of students' verbal interaction frequencies (1) were most highly correlated to interaction rate in two preschool settings, (2) had test-retest reliability consistently above Rho = .80, and (3) were useful in that 77% of teachers using this procedure could identify their least socially responsive student within five rankings. The peer nomination sociometric rating was the least reliable measure at retest (Rho = .35) and showed consistently the lowest correlation with observational indices of interaction partner preferences, e.g., reciprocal rate (Rho = .29 to .39). The tendency for relationships among screening measures and the criterion to increase at retest suggested a training effect on screening accuracy. The use of teacher rankings in combination with observational measures to confirm selection accuracy and for monitoring treatment progress is discussed as a cost-effective behavioral assessment procedure for preschool social withdrawal/responsiveness.     

Implications of human genome research: Impact on graduate education in genetic counseling

A conference of genetic counseling and clinical nurse specialist graduate program directors was hosted by the National Society of Genetic Counselors and funded by the Ethical, Legal, and Social Implications Program of the National Center for Human Genome Research in June 1992. One aspect of the conference addressed implications of the Human Genome Initiative for graduate education in genetic counseling. Within this paper, the topics of human variation and diversity, genetic discrimination, issues in non-directiveness, and genetic screening and policy development are reviewed and recommendations made for graduate curricula development and enhancement. In addition, suggestions are included for practicing genetic counselors.     

Reliability and acceptability of web-based administration of Spanish ages and stages questionnaires third edition®

to analyse the reliability of 6 age intervals of Spanish web-based Ages and Stages Questionnaires Third Edition (WB-ASQ-3) and parents' acceptability, in a clinical practice context, during COVID-19 pandemic and lockdown in Chile. Cross-sectional study with a longitudinal component. Internal consistency was analysed by Cronbach's alpha and Pearson product–moment correlation, Pearson's correlations between intervals questionnaires were analysed. Acceptability was determined using a parental satisfaction survey. 1061 children completed 2318 validated questionnaires. Scores were compared with normative sample, except for Gross motor at 8 and 12 months, and Communication at 12, 18 and 24 months, without differences to the previous Chileans sample. In domain analysis, Cronbach's alpha ranged from 0.36 to 0.80 and reached 0.74 to 0.81 for the overall test. Strong positive correlation between the domain and overall score was obtained. Correlation between most questionnaires at different ages was positive and significant. Parental surveys show high satisfaction; parents were thankful for being able to monitor children's development. WB-ASQ-3 is a reliable and feasible screening system, particularly when the test is taken as a whole, rather than by domains. It is remarkably high acceptability among parents, especially in complex times such as the lockdown and the COVID-19 pandemic.     

Does criminal offender treatment work?

In examining the effectiveness of offender treatment, this article attempts to integrate disparate bodies of knowledge. An overview of the effectiveness of offender treatment is presented. To put offender treatment into perspectives, the psychotherapy outcome literature for nonoffenders is briefly reviewed. The complexity of offender treatment is further explored by reviewing correlates and antecedents of criminality that include antisocial personality disorder, antisocial behavior in children, and substance abuse. Implications of the existing body of knowledge on future policy and more active involvement by psychologists are discussed.     

Un produit de santé peut-il changer de statut au gré des circonstances ? Éléments de réflexion avec l’exemple précis du savon

Soap is a cosmetic product in common use during this pandemic period. It enables barrier gestures to be carried out. Capable of preventing pathology (COVID-19), it should, therefore, be marketed under a drug status. If we consider the history of soap, we realize the complexity of its status. Depending on the period, it has been considered as a hygiene product and/or as an excipient or an active ingredient allowing the production of a drug or cosmetic making it possible to treat both scabies and burns, to carry out purges or to put at the point of preparations to soften or whiten hands or to lengthen eyelashes. The use of the term “soap”, being extremely overused, the establishment of regulations to clarify this situation is essential.     

Prediction of drug and alcohol abuse in hospitalized adolescents: comparisons by gender and substance type

The authors examined psychosocial correlates of drug and alcohol abuse in 462 hospitalized adolescents, and the extent to which these associations may be affected by gender or by substance type. Participants completed a battery of psychometrically-sound, self-report measures of psychological functioning, environmental stress, drug abuse, and alcohol abuse. Four multiple regression analyses were conducted to determine the joint and independent predictors of drug abuse and alcohol abuse, for males and for females. Multiple regression analysis revealed that seven variables--age, depression, impulsivity, low self-esteem, delinquent predisposition, low peer insecurity, and history of child abuse--jointly predicted both drug and alcohol abuse, for both males and females. However, several differences were found with respect to which variables made independent contributions to the predictive models--with only delinquent predisposition making a significant independent contribution for all four conditions. We found distinct patterns of psychosocial predictor variables for drug and alcohol abuse, as well as distinct patterns for males and females. These results may reflect differing risk factors for drug abuse and alcohol abuse in adolescent psychiatric patients--and differing risk factors for males and females. Such differences have potential implications for prevention and treatment.     

Ethics,policy, and rare genetic disorders: the case of Gaucher disease in Israel

Gaucher disease is a rare, chronic,ethnic-specific genetic disorder affecting Jewsof Eastern European descent. It is extremelyexpensive to treat and presents difficultdilemmas for officials and patients in Israelwhere many patients live. First, high-cost,high-benefit, but low volume treatment forGaucher creates severe allocation dilemmas forpolicy makers. Allocation policies driven bycost effectiveness, age, opportunity or needmake it difficult to justify funding. Processoriented decision making based on terms of faircooperation or decisions invoking the ``rule ofrescue' risk discriminating against minoritieswho may already suffer from inequitabledistribution of heath care resources. Apartfrom cost, Gaucher disease prompts questionsabout abortion. Unlike severe geneticdisorders, Gaucher offers no grounds forabortion and, in many ways, is analogous togender based abortions that are prohibitedregardless of fetal age. Finally, Gaucherraises concerns about the disclosure of geneticinformation. These affect potential carriersasked to participate in population studies andcarriers and patients who must considerdisclosure to others. These concerns weigh theright to privacy against communal interests andbilateral commitments.     

Proactive, early screening to detect behaviorally at-risk students: Issues, approaches, emerging innovations, and professional practices

This article provides a review of current practices and tools used in the proactive screening of behaviorally at-risk students within the context of schooling. While there are many obstacles to the early detection of vulnerable students, some recent developments have helped make educators more receptive to early identification and prevention approaches. In addition to describing current best practices, this article reviews promising innovations in screening and early identification that the authors believe are worth considering and whose structural characteristics, required accommodations, and critical features may make them more acceptable to educational users. Implications for the training of school psychologists in the screening and early identification of high-risk students are reviewed and recommendations offered for future research.