Communication in cancer genetic counselling: does it reflect counselees' previsit needs and preferences?

This study sought to describe counsellor–counselee interaction during initial cancer genetic counselling consultations and to examine whether the communication reflects counselees' previsit needs. A total of 130 consecutive counselees, referred mainly for breast or colon cancer, completed a questionnaire before their first appointment at a genetic clinic. Their visit was videotaped. Counselee and counsellor verbal communications were analysed and initiative to discuss 11 genetics-specific conversational topics was assessed. The content of the visit appeared relatively standard. Overall, counselees had a stronger psychosocial focus than counsellors. Counsellors directed the communication more and initiated the discussion of most of the topics assessed. Counselees did not appear to communicate readily in a manner that reflected their previsit needs. Counsellors provided more psychosocial information to counselees in higher need for emotional support, yet did not enquire more about counselees' specific concerns. New counselees may be helped by receiving more information on the counselling procedure prior to their visit, and may be advised to prepare the visit more thoroughly so as to help them verbalise more their queries during the visit

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5–10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient