What do patients expect from their first visit to a pain clinic?

Objective: To examine patients' expectations of their first outpatient visit to a pain clinic. We asked patients what would be the most satisfying and the most disappointing outcomes of their visit and whether they expected changes in medication and further investigations to result from their consultation.Design: Patients completed questionnaires and a structured interview to assess expectations before their clinic appointment.Methods: Seventy-seven patients with chronic pain who were first time referrals to a regional pain clinic participated in the study. Patient expectations and questionnaires measuring depression and pain-related disability were completed prior to the pain clinic appointment.Results: Most patients expected an explanation or an improved understanding of their pain problem. The most common satisfying outcome was relief or control of pain, and the most common disappointing outcome was being told nothing could be done. The majority of patients expected further medical investigations and changes to the prescribed medication. Depression and pain-related disability strongly influenced patient expectations.Conclusions: For patients attending pain clinics, the explanation of their pain problem is rated as important as the cure or relief of their pain. Improved understanding of patient expectations by pain clinic clinicians may lead to greater patient satisfaction and reduced treatment dropout

Functional impact of global rare copy number variation in autism spectrum disorders.

International audienceThe autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways