A preliminary study on early onset schizophrenia and bipolar disorder: large polyglutamine expansions are not involved

International audienc

Shared executive dysfunctions in unaffected relatives of patients with autism and obsessive-compulsive disorder.

manuscript in press, online version published 2006 Nov 24BACKGROUND: Executive dysfunctions have been studied as a potential endophenotype associated with the genetic basis of autism. Given that recent findings from clinical and molecular genetic studies suggest that autism and obsessive-compulsive disorder (OCD) could share a common pattern of heritability, we assessed executive functions as a possible common cognitive endophenotype in unaffected family members of individuals with either autism or OCD. METHODS: Five tests assessing executive functions (Tower of London, verbal fluency, design fluency, trail making and association fluency) were proposed to 58 unaffected first-degree relatives (parents and siblings) of probands with autism and 64 unaffected first-degree relatives of OCD patients. Results were compared with those of 47 healthy controls matched for age, sex, and level of education. RESULTS: In the Tower of London test, both groups of unaffected relatives showed significantly lower scores and longer response times compared with controls. No differences were observed between autism and OCD relatives and healthy controls in the four other tasks (verbal fluency, design fluency, trail making test and association fluency). CONCLUSIONS: Our findings show the existence of executive dysfunction in the unaffected first-degree relatives of probands with OCD, similar to those observed in the relatives of patients with autism. These results support and extend previous cognitive studies on probands indicating executive dysfunctions in autism and OCD. Planning and working memory processes could thus represent a common cognitive endophenotype in autism and OCD that could help in the identification of genes conferring vulnerability to these disorders

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism

Diversité des prises en charge hospitalières de l'anorexie mentale en psychiatrie en France

International audienceBackground: Hospitalization is rare in anorexia nervosa (AN) and local application of indications is heterogeneous. However, no study has evaluated the effect of these different treatment modalities on the mean length of stay. Our objective was to describe the context and modalities of a wide range of hospital care programs offered to patients with anorexia nervosa in eleven specialized French psychiatric centers for patients from childhood to adulthood. This work was carried out within the framework of the EVHAN (Evaluation of Hospitalization for AN, Eudract number: 2007-A01110-53, registered in Clinical trials) research program. The EVHAN program comprises five main lines: weight objectives at discharge, the practice or not of a separation period, the use of clear nutritional dietary objectives (cognitive/behavioral), the intensity of family involvement in treatment, and the existence or absence of a stabilization phase before ending inpatient treatment. These main lines will make it possible to study the impact of treatment modalities on the future of patients in the short and medium term (at discharge and at 1-year follow-up). Methods: The eleven centers are located in France (Bordeaux, Nantes, Paris and Ile-de-France, Rouen and Saint-Étienne). Various staff members (psychiatrists, somatic doctors, nurses, dieticians, psychologists) from each center were interviewed using a semi-structured questionnaire. Data on operating modalities and context of care were collected and analyzed. Results: Four of the eleven centers were exclusively child/adolescent centers, and seven of 11 were adolescent (from 11, 13 or 16 years) and young adult centers. All centers offered a graduated approach from outpatient to full hospitalization. The majority had a number of beds allocated for patients with eating disorders. The criteria for hospitalization were homogeneous with respect to somatic and/or psychic severity prefiguring the consensus criteria defined by the French Health Authority (HAS) in 2010. Child/adolescent units used the weight curve to set weight objectives at discharge (between the 10th and 50th percentiles). Most adult units used weight objectives at discharge corresponding to a body mass index between 17 and 20 kg/m2. Nine centers used a written or oral care contract. One unit did not separate the patient from her/his usual environment, the others had a practice gradient of partial separation and total separation times. These were either short, lasting a maximum of 3 weeks, or long, lasting more than 3 weeks. Conversely, patients were not isolated within the unit, and benefited from a rich social life, depending on her/his physical condition. The patient's family was in contact with the team and fully supported. The longest periods of separation involved adolescents and adults. Nutritional support varied from a group approach (meals in the dining room, standardized meals of the care center) to very individualized approaches within a specific framework. All the units reported meeting with families at least once during the hospitalization; with the patient's parents for child/adolescent patients and/or unmarried patients and with the husband/wife for married patients. The majority of the centers requested a phase of weight stabilization, whatever the age before hospital discharge. Conclusion: There is international and national consensus regarding the indications for hospitalization, and the main lines of multidisciplinary care to be developed within this framework. However, local application of these indications was heterogeneous resulting in diverse modalities of hospital care for anorexia nervosa in France. Specialized teams have developed management strategies arising from their “team culture”. The complexity of the anorexic pathology, due to the psyche-soma intrication and the diversity of age groups, highlights the complexity of care available. The impact of this diversity of hospital care on patient outcomes will be studied as a result of this work