Brief Report: The Broad Autism Phenotype in Swedish Parents of Children With and Without Autism Spectrum Conditions.

The broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the BAPQ into Swedish and examined its psychometric properties in a Swedish sample consisting of 45 parents of children with ASC and 74 parents of non-autistic children. We found support for the original 3-factor structure (aloof, pragmatic language and rigid), good internal consistency and convergent validity with the Autism Quotient. Thus, the Swedish BAPQ exhibits acceptable psychometric properties and may be useful for assessing the BAP in non-clinical populations.

Experiences of Sensory Overload and Communication Barriers by Autistic Adults in Health Care Settings.

Background: Autistic adults have an elevated risk of many health problems compared with the general population, making health care access extra critical. Unfortunately, autistic people often find health care settings quite aversive, and many medical providers report feeling unsure about how to interact with autistic patients. We aimed at characterizing specific challenges regarding sensory experiences and communicative barriers in health care settings. Methods: We recruited adults to complete an anonymous online questionnaire on the topic of improving health care experiences for everyone. The questions covered demographics, sensory experiences in medical settings, and communication with health care providers. We quantified the associations between autism diagnosis and experiences of sensory discomfort and communication barriers in health care settings. We also did a qualitative analysis of text responses to questions on how to improve sensory environments and communication with providers. Results: Swedish adults (62 autistic and 36 nonautistic) participated in the study. The cohort was well educated, and autistic participants received their autism diagnosis late in life (median age 36 years, range 13-57). Compared with nonautistic participants, autistic participants reported greater discomfort with background sound levels in health care settings and felt more misunderstood by health care providers. Thematic analyses showed that auditory stimuli and proximity to other people were particularly bothersome for autistic participants, causing stress or avoidance and affecting the ability to interact with providers. Providers contributed to communication barriers by failing to recognize the need for individualized information, especially when respondents' difficulties were not visible or taken seriously. Participants requested greater clarity and supplementary written information. Providers also misunderstood autistic adults' body language or eye contact patterns, as they interpreted their clients through the lens of neurotypical expectations. Conclusions: Our results extend previous research by emphasizing sensory aspects of health care settings and suggesting specific and reasonable adaptations. The results also highlight how the provider's implicit expectations of nonverbal communication caused misinterpretations of autistic people who were socially skilled but did not use typical body language. Based on the data, we suggest specific adaptations, many of which may also benefit nonautistic people.

Why was this study done?: Health care needs of autistic adults are often unmet. This may contribute to poorer health outcomes in autistic compared with nonautistic adults. Autistic differences may not be obvious in this group because of behavioral compensation strategies. Health care providers may underestimate the support needs of autistic adults, leading to decreased quality of care. By analyzing autistic adults' own experiences, we may better understand barriers to effective health care. What was the purpose of this study?: We aimed at identifying patterns of sensory and communicative experiences that autistic adults find problematic in health care settings. What did the researchers do?: In an online questionnaire, we asked autistic and nonautistic adults how they experienced various medical settings. We focused on specific sensory inputs, such as light levels and background sounds, in waiting rooms and other medical contexts. We also asked questions about communication between patients and providers. Finally, we did a qualitative analysis on free-text responses about sensory environments for both groups, and about communication for the autistic group. What were the results of the study?: Ninety-eight people (62 autistic) participated. Most of the cohort was female or gender-diverse, middle-age, and well educated. Autistic participants identified auditory inputs as one of the greatest stressors in medical settings. They discussed the impact of light levels and other people's presence on their energy levels and ability to communicate. Health care providers often misunderstood their autistic patients, leading to a failure in transferring medical information. Participants described how providers underestimated their needs, even when they were aware of the autism diagnosis. Participants wanted to get information delivered at a slower pace and with a greater amount of detail, to be better able to process medical or procedural information. What do these findings add to what was already known?: The study contributes with information on specific sensory challenges and suggests that auditory noise is particularly problematic for autistic people. On the topic of communication, the findings point to a "double empathy" problem, whereby the provider's own limitations contribute significantly to communication barriers. This was apparent in accounts of nonverbal communication, where the provider's expectations of neurotypical body language caused misunderstandings that were difficult to overcome. What are the potential weaknesses in the study?: The sample was small and comprised an ethnically narrow demographic group. Thus, the results are not generalizable to other autistic populations, such as minimally verbal adults. We also did not measure health status beyond diagnosed conditions. How will these findings help autistic adults now or in the future?: The consequences of sensory and communicative barriers may go entirely unnoticed when autistic differences are not visible. Unsuccessful interactions with the health care system may have enormous effects on the health and quality of life of autistic people. Therefore, educators and providers may use the insightful information provided by autistic participants in this study to inform decisions on staff training or design of sensory environments.

BUB1 infrequently mutated in human breast carcinomas.

The BUB1 gene is a key player in the mitotic spindle checkpoint machinery that monitors proper segregation of sister chromatides during mitosis. It has been suggested that mutations in BUB1 may disrupt the spindle checkpoint and thereby cause chromosomal instability, which is a hallmark of solid tumors including those from the breast. From a series of breast carcinomas we selected 20 cases with genomic instability, as scored by Comparative Genome Hybridization (CGH), and without somatic TP53 (p53) mutations, and sequenced the entire coding region of the BUB1 gene. Two different constitutional sequence variants were found; a base substitution in exon 5, c.481G>A (CAG>CAA, a synonymous change encoding Gln144) in two samples, and a base substitution 8 bp upstream of exon 10, c.1007-8T>C in two other samples. No somatic mutations were detected. These results indicate that genomic instability scored as copy number alterations by CGH in TP53 wild type breast carcinomas is not caused by somatic mutations in the BUB1 gene.

Presence of bone marrow micrometastasis is associated with different recurrence risk within molecular subtypes of breast cancer.

Expression profiles of primary breast tumors were investigated in relation to disseminated tumor cells (DTCs) in bone marrow (BM) in order to increase our understanding of the dissemination process. Tumors were classified into five pre-defined molecular subtypes, and presence of DTC identified (at median 85 months follow-up) a subgroup of luminal A patients with particular poor outcome (p=0.008). This was not apparent for other tumor subtypes. Gene expression profiles associated with DTC and with systemic relapse for luminal A patients were identified. This study suggests that DTC in BM differentially distinguishes clinical outcome in patients with luminal A type tumors and that DTC-associated gene expression analysis may identify genes of potential importance in tumor dissemination.