Hotspots of Large Rare Deletions in the Human Genome

Background: We have examined the genomic distribution of large rare autosomal deletions in a sample of 440 parentparent-child trios from the Quebec founder population (QFP) which was recruited for a study of Attention Deficit Hyperactivity Disorder. Methodology/Principal Findings: DNA isolated from blood was genotyped on Illumina Hap300 arrays. PennCNV combined with visual evaluation of images generated by the Beadstudio program was used to determine deletion boundary definition of sufficient precision to discern independent events, with near-perfect concordance between parent and child in about 98 % of the 399 events detected in the offspring; the remaining 7 deletions were considered de novo. We defined several genomic regions of very high deletion frequency (‘hotspots’), usually of 0.4–0.6 Mb in length where independent rare deletions were found at frequencies of up to 100 fold higher than the average for the genome as a whole. Five of the 7 de novo deletions were in these hotspots. The same hotspots were also observed in three other studies on members of the QFP, those with schizophrenia, with endometriosis and those from a longevity cohort. Conclusions/Significance: Nine of the 13 hotspots carry one gene (7 of which are very long), while the rest contain no known genes. All nine genes have been implicated in disease. The patterns of exon deletions support the proposed roles for some of these genes in human disease, such as NRXN1 and PARKIN, and suggest limited roles or no role at all, for others

Efficacité de la psychothérapie comparativement à la pharmacothérapie dans le traitement des troubles anxieux et dépressifs chez l’adulte : une revue de la littérature

Dans l’optique de l’amélioration d’une couverture de la psychothérapie au Québec, le ministère de la Santé et des Services sociaux a confié à l’Institut national d’excellence en santé et en services sociaux le mandat d’évaluer l’efficacité de la psychothérapie comparée à la pharmacothérapie dans le traitement des adultes souffrant de troubles anxieux et dépressifs. Une mise à jour d’une revue de la littérature récente et de bonne qualité a été effectuée grâce à une revue des revues systématiques traitant de la psychothérapie comparée à la pharmacothérapie dans le traitement des adultes anxieux et dépressifs avec un horizon temporel compris entre 2009 et 2013. Le niveau de l’ensemble de la preuve scientifique permet de dire que de manière générale, il n’y a pas de différence significative entre la psychothérapie et la pharmacothérapie sur le plan de la réduction des symptômes des patients souffrant de troubles anxieux ou dépressifs modérés, ce qui indique une efficacité comparable de ces deux modes de traitement. Cependant, les avantages de la psychothérapie sont maintenus plus longtemps après la fin du traitement que ceux des médicaments. La psychothérapie offre donc une meilleure protection contre la rechute. Par ailleurs, la combinaison de la psychothérapie et de la pharmacothérapie présente une efficacité supérieure à celle de la psychothérapie seule dans les cas chroniques ou graves.Introduction In Quebec, mental disorders affect one in five people in their lifetime. Anxiety and depressive disorders are the main common or moderate mental health disorders. They affect both the individuals with the disorder and the people around them and have substantial economic impact. Psychotropic drugs are the treatment option most often proposed to patients presenting with moderate mental health disorders. Psychotherapy is nevertheless a treatment that should be given consideration.Physical and financial access to psychotherapy remains limited because only one third of professionals qualified to offer it practise in the public sector, and the coverage and reimbursement policy for this service is very restricted. In order to improve such coverage, the Ministère de la Santé et des Services sociaux (MSSS) mandated the Institut national d’excellence en santé et en services sociaux (INESSS) to assess the evidence on the effectiveness of psychotherapy compared with those of pharmacotherapy for the treatment of adults with anxiety and depressive disorders.Methods An update of a review of recent and good quality literature was conducted through a review of systematic reviews dealing with psychotherapy compared to pharmacotherapy in the treatment of anxiety and depression in adults. The period covered included 2009 to 2013. The literature search strategy, modelled on that of the reference review, was applied to Medline, Cochrane Library, CINAHL, Web of Science and health technology assessment agencies. Exploration of the grey literature focused on information available on the websites of various health assessment organizations.Results The level of scientific evidence overall was judged to be of moderate to high quality. In general, the data showed no significant difference between psychotherapy and pharmacotherapy in terms of symptoms reduction in patients with moderate anxiety or depressive disorders, indicating comparable effectiveness of these two modes of treatment. However, the benefits of psychotherapy lasted longer after the end of treatment than those of medication. Psychotherapy therefore offers better protection against relapse. Furthermore, the combination of psychotherapy and pharmacotherapy is more effective than psychotherapy alone in severe or chronic cases.Conclusion Psychotherapy appears to be as effective as pharmacotherapy in the treatment of adult patients with moderate anxiety and/or depressive disorders. Moreover, the beneficial effects of psychotherapy last longer after the end of treatment with a lower likelihood of relapse

Perspective de pairs aidants sur leur expérience d’animation d’un programme d’autotraitement du trouble panique

Objectif : Les groupes de soutien permettent de rejoindre des personnes atteintes de troubles anxieux qui ne sont pas desservies ou ne le sont que partiellement par les services de la santé. La présente étude porte sur le recours à des pairs aidants pour l’animation d’un programme d’autotraitement (Zéro-ATAQ). Leur point de vue sur ce programme a été documenté de manière à déterminer les aspects qui pourraient en être améliorés.Méthode : Onze pairs aidants ont animé les 12 sessions du programme qui a été dispensé dans quatre régions du Québec auprès de 32 personnes atteintes du trouble panique avec agoraphobie. La perspective de dix pairs animateurs a été documentée à partir d’une entrevue semi-structurée au terme du programme, puis, après plus de six mois, par un focus group réunissant les pairs animateurs de l’ensemble des groupes. Les commentaires recueillis ont été transcrits et ont fait l’objet d’une analyse de contenu thématique.Résultats : L’ensemble des animateurs rapportent avoir apprécié leur participation. Avoir pu ainsi venir en aide à des personnes éprouvant un trouble anxieux et avoir pu améliorer leurs connaissances caractérisent les propos rapportés. La quasi-totalité des pairs animateurs ont fait valoir l’importance de pouvoir compter sur la supervision d’un professionnel au besoin.Conclusion : L’étude a mis en lumière (1) la faisabilité d’implanter un programme de ce type en partenariat avec des pairs, (2) les qualifications requises pour l’animation de ce programme, (3) les besoins sur le plan de la formation et du matériel requis, et (4) l’importance de la supervision.Objective: Support groups can help to reach individuals with anxiety disorders who are not or are only partly obtaining health services. The present study is based on a program that involves peer helpers as animators of a self-treatment group (Zéro-ATAQ). Their perspective has been documented in order to identify the aspects of the program which can be improved.Methods: Eleven peer helpers led the 12 sessions of the program, which was dispensed in four regions of Quebec for 32 persons having panic disorders with agoraphobia. The perspectives of ten peer animators were documented based on a semi-structured interview that took place at the end of the program, and a focus group that was held over six months later with peer animators from each of the groups. Their comments were transcribed and a thematic content analysis was conducted.Results: All of the peer helper animators reported that they enjoyed participating in the program, that they appreciated being able to help others having an anxiety disorder, and that the program helped them in their role as animators of these types of activities. Nearly all of the peer helpers emphasized the importance of being able to count on the supervision of a professional when needed.Conclusion: This study revealed (1) the feasibility of implementing a program of this kind in partnership with peers, (2) the qualifications necessary to lead this type of program, (3) the requirements in terms of training and available material, and (4) the importance of supervision