Delineation of 15q13.3 microdeletions.

The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5, which include the CHRNA7 gene. About 100 index cases have been reported since the first publication in 2008. This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4-BP5 microdeletion out of a series of 4625 patients screened by array-CGH for DD. We confirm the clinical expressivity of the disease as well as the incomplete penetrance in seven families. We showed through a review of the literature that males are more likely to be symptomatic. Sequence analysis of CHRNA7 yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. We also report the first patient carrying a 15q13.3 homozygous microdeletion inherited from both parents. He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis. Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene.

[Alexithymia and links with depression and anxiety in multiple sclerosis]. / Alexithymie et liens avec la dépression et l'anxiété dans la sclérose en plaques.

OBJECTIVES: This study evaluates the prevalence of alexithymia in multiple sclerosis and examines the links between alexithymia, depression and anxiety. METHOD: Sixty-one subjects aged between 18 and 60 years and suffering from multiple sclerosis took part in the study. The psychological assessment consisted of an interview with a psychologist and three questionnaires: the Toronto Alexithymia Scale (TAS), the State-Trait Anxiety Inventory (STAI), the Beck Depression Inventory (BDI). RESULTS: The prevalence of alexithymia was 42.5%, 34.4% for depression and 44.3% for anxiety (high and moderate level). The alexithymic subjects were more depressed and anxious. Results indicated positive correlations between anxiety (state and trait), depression and alexithymia scores. The various dimensions of alexithymia were found to be diversely correlated with anxiety and depression. CONCLUSIONS: Our results point out the importance of anxiety in multiple sclerosis and the specificity of alexithymia.

[Styles of attachment and social support perceived in depressed women]. / Styles d'attachement et soutien social perçu chez des femmes déprimées.

RESULTS: This study, inspired by the attachment model and research in the field of social support, attempts to reveal the link between styles of attachment, social support and depressive vulnerability. AIM OF THE STUDY: It investigates current styles of attach-ment and the quality of social support perceived by 35 hospitalized, depressed subjects compared to 35 control subjects who exhibited no pathology. After giving their consent, each subject took part in an in-depth psychological investigation consisting of a recorded clinical interview and various clinical scales. METHOD: The study presents only the responses to the Perception of Relations questionnaire which distinguishes between four styles of attachment (secure, detached, preoccupied and disorganized) and the Social Support Questionnaire (SSQ6) which contains two dimensions: social availability and social satisfaction. The results were subjected to statistical analyses: a comparative analysis between the two groups and a correlational analysis between the dimensions of social support and the dimensions of style of attachment. On the one hand, the study reveals that the social network is perceived to be less available by depressed subjects, together with the absence of a current intimate relationship with other people, the absence of people to confide in, and a relationship between this absence and the large number of losses experienced by depressed subjects, in particular the loss of figures of attachment (father and mother). On the other hand, depressed subjects tend to exhibit a preoccupied, disorganized style of attachment which is characterized by negative models of the self. DISCUSSION: The discussion addresses the way these styles of attachment should be understood: do they represent the consequence of the depressive pathology or an older relational style?

[Attempted suicide and menstrual cycle. An epidemiologic study]. / Tentatives de suicide et cycle menstruel. Etude épidémiologique.

Relations between suicidal behaviours and menstrual cycle have been studied by various authors with different methodologies, from which miscellaneous and contradictory results. We have taken this relation again, about suicide attempts admitted in Dijon's emergency department. Were recorded for each suicidal woman aged 15 to 49 their sociodemographical and gynecological characteristics. The same data were collected among women admitted in such circumstances for various pathologies except suicidal disorders. Cases and witnesses were distributed in an ideal cycle of 28 days with the method called cycle adjusting. Statistic analysis reveals a significant difference between cases and witnesses for pre-ovulatory period but don't resist to the maximum bias hypothesis. Finally, our study emphasizes without our knowing, for the population concerned, cases and witnesses alike, an increase hospital-going during pre-ovulatory period.

[Genetic testing in asymptomatic minors: a survey among French geneticists]. / Les tests génétiques présymptomatiques chez le mineur: enquête auprès des généticiens français et position du groupe français de génétique prédictive.

Since their introduction, genetic tests have been carefully considered, with special attention to the release of information about the test and test results, the confidentiality of genetic information, the request and its motivation, and the psychological impact of the test. Careful consideration is needed when family members at risk are asymptomatic children or adolescents. Cautious reflection is warranted on whether and under which conditions genetic testing should be performed. Here, we report on the results of a survey conducted in France among 50 geneticists questioned on their opinions and practices concerning presymptomatic testing in three groups of diseases: those for which a medical benefit exists during childhood (e.g., retinoblastoma), diseases with onset during childhood for which there are no immediate medical consequences (e.g., type II/III spinal muscular atrophy), and those with onset during adulthood for which there is no medical benefit during childhood (e.g., Huntington disease). Guidelines are proposed: presymptomatic testing should not be performed in a minor without individual and direct information, all requests for presymptomatic genetic testing concerning a disease with onset in adulthood should be postponed, and all presymptomatic test requests for a minor should be addressed to a multidisciplinary team.