Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.

ObjectivesPatients are often provided with medicine information sheets (MIS). However, up to 60% of patients have low health literacy. The recommended readability level for health-related information is ≤grade 8. We sought to assess the readability of MIS given to patients by rheumatologists in Australia, the UK and Canada and to examine Australian patient comprehension of these documents.DesignCross-sectional study.SettingCommunity-based regional rheumatology practice.ParticipantsRandom sample of patients attending the rheumatology practice.Outcome measuresReadability of MIS was assessed using readability formulae (Flesch Reading Ease formula, Simple Measure of Gobbledygook scale, FORCAST (named after the authors FORd, CAylor, STicht) and the Gunning Fog scale). Literal comprehension was assessed by asking patients to read various Australian MIS and immediately answer five simple multiple choice questions about the MIS.ResultsThe mean (±SD) grade level for the MIS from Australia, the UK and Canada was 11.6±0.1, 11.8±0.1 and 9.7±0.1 respectively. The Flesch Reading Ease score for the Australian (50.8±0.6) and UK (48.5±1.5) MIS classified the documents as ‘fairly difficult’ to ‘difficult’. The Canadian MIS (66.1±1.0) were classified as ‘standard’. The five questions assessing comprehension were correctly answered by 9/21 patients for the adalimumab MIS, 7/11 for the methotrexate MIS, 6/28 for the non-steroidal anti-inflammatory MIS, 10/11 for the prednisone MIS and 13/24 for the abatacept MIS.ConclusionsThe readability of MIS used by rheumatologists in Australia, the UK and Canada exceeds grade 8 level. This may explain why patient literal comprehension of these documents may be poor. Simpler, shorter MIS with pictures and infographics may improve patient comprehension. This may lead to improved medication adherence and better health outcomes.

Psychiatric patients are sometimes given fact sheets about their treatment but the benefits of these are uncertain. We tested three strategies in three cohorts of psychiatric inpatients--fact sheets alone, fact sheets and subsequent discussion, and control. Knowledge of medication was assessed by questionnaire. For various reasons, only 33 of the 77 patients were included in the study or analysis. Of the patients who had been given fact sheets, 87% independently read them and reported finding them helpful whilst all asked for more information. Receiving a fact sheet alone had no significant effect, whereas having discussed it with a health care professional was associated with a significant increase in knowledge about medication. Patients receiving fact sheets selectively learned more about side-effects than about drug action or precautions. This strategy for patient education could be used by ward nurses and deserves further evaluation.

A genome-wide screen was performed on a large cohort of dizygous twin pairs to identify regions of the genome that contain QTL for QUS of bone. Suggestive linkage of QUS parameters to 2q33-37 and 4q12-21 highlighted these regions as potentially important for studies of genes that regulate bone. Introduction:The genetics of osteoporotic fracture is only partly explained by bone mineral density (BMD). Quantitative ultrasound (QUS) of the calcaneus can also be used for independent clinical assessment of osteoporotic fracture risk. Two specific indices are derived from this assessment: broadband ultrasound attenuation (BUA) and velocity of sound (VOS). Both parameters provide information on fracture risk; however, BUA has been studied more extensively and may be favored because it is thought to have a stronger predictive value for osteoporotic fracture and incorporates aspects of trabecular structure and bone quality as well as BMD. Studies of QUS in twins have shown that both derived parameters are under substantial genetic control, independent of BMD. Materials and Methods: To identify regions of the genome that contain quantitative trait loci (QTL) for QUS of bone, we performed a genome-wide screen on a large cohort of dizygous twin pairs. Unselected female dizygous twins from 1067 pedigrees from the St Thomas' UK Adult Twin Registry were genome scanned (737 highly polymorphic microsatellite markers). Multipoint linkage analyses provided maximum evidence of linkage for BUA (LOD 2.1-5.1) to 2q33-37. Linkage for VOS (LOD 2.2-3.4) was maximal at 4q12-21. Potential evidence of linkage in the cohort indicated five other possible locations of QTL (LOD Ͼ2.0) relevant to bone density or structure on chromosomes 1, 2, 13, 14, and X. Results and Conclusions: This study has identified eight genomic locations with linkage of LOD Ͼ2.0. This data should be of value in assisting researchers to localize genes that regulate bone mass and microstructure. These results should complement genome screens of BMD and bone structure and serve to enable further targeted positional candidate and positional cloning studies to advance our understanding of genetic control of bone quality and risk of fracture.

Autism is a neurodevelopmental disorder that usually arises on the basis of a complex genetic predisposition. The most significant susceptibility region in the first whole genome screen of multiplex families was on chromosome 7q, although this linkage was evident only in UK IMGSAC families. Subsequently all other genome screens of non-UK families have found some evidence of increased allele sharing in an overlapping 40 cM region of 7q. To further characterize this susceptibility locus, linkage analysis has now been completed on 170 multiplex IMGSAC families. Using a 5 cM marker grid, analysis of 125 sib pairs meeting stringent inclusion criteria resulted in a multipoint maximum LOD score (MLS) of 2.15 at D7S477, whereas analysis of all 153 sib pairs generated an MLS of 3.37. The 71 non-UK sib pairs now contribute to this linkage. Linkage disequilibrium mapping identified two regions of association-one lying under the peak of linkage, the other some 27 cM distal. These results are supported in part by findings in independent German and American singleton families.