The quality, suitability, and readability of web-based resources on endometriosis-associated dyspareunia: A systematic review.

People commonly and increasingly rely on the internet to search for health information, including those related to endometriosis-associated dyspareunia. Yet the content of such websites may be of variable accuracy and quality. This review aims to evaluate the quality, readability, and suitability of web-based resources on endometriosis-associated dyspareunia for patients. We searched 3 databases - Google, Bing, and Yahoo - to identify websites related to endometriosis-associated dyspareunia. Two independent reviewers screened the search results against inclusion and exclusion criteria. Another set of two reviewers evaluated the selected websites using validated measurement instruments. Out of 450 websites, 21 met the inclusion criteria and were evaluated. More than half of the websites had information on content updates, reported on authorship, or disclosed sponsorship information. The mean quality and suitability scores were 47.5 (SD = 13.3) and 65.2 (SD = 13.6) respectively, thus suggesting generally adequate quality and suitability levels. However, the mean readability scores exceeded the recommended level for health-related websites. The poor readability of the websites might limit accessibility for a significant proportion of patients with low educational levels. The findings of this review have implications for designing high-quality, readable and up-to-date web interventions for people who rely on web platforms as an alternative or complementary source of health information on dyspareunia.

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.

OBJECTIVE: SETD1A encodes a histone methyltransferase involved in various cell cycle regulatory processes. Loss-of-function SETD1A variants have been associated with numerous neurodevelopmental phenotypes, including intellectual disability and schizophrenia. While the association between rare coding variants in SETD1A and schizophrenia has achieved genome-wide significance by rare variant burden testing, only a few studies have described the psychiatric phenomenology of such individuals in detail. This systematic review and case report aims to characterize the neurodevelopmental and psychiatric phenotypes of SETD1A variant-associated schizophrenia. METHODS: A PubMed search was completed in July 2022 and updated in May 2023. Only studies that reported individuals with a SETD1A variant as well as a primary psychotic disorder were ultimately included. Additionally, another two previously unpublished cases of SETD1A variant-associated psychosis from our own sequencing cohort are described. RESULTS: The search yielded 32 articles. While 15 articles met inclusion criteria, only five provided case descriptions. In total, phenotypic information was available for 11 individuals, in addition to our own two unpublished cases. Our findings suggest that although individuals with SETD1A variant-associated schizophrenia may share a number of common features, phenotypic variability nonetheless exists. Moreover, although such individuals may exhibit numerous other neurodevelopmental features suggestive of the syndrome, their psychiatric presentations appear to be similar to those of general schizophrenia populations. CONCLUSIONS: Loss-of-function SETD1A variants may underlie the development of psychosis in a small percentage of individuals with schizophrenia. Identifying such individuals may become increasingly important, given the potential for advances in precision medicine treatment approaches.

Central sensitization inventory in endometriosis.

ABSTRACT: A key clinical problem is identifying the patient with endometriosis whose pain is complicated by central nervous system sensitization, where conventional gynecologic treatment (eg, hormonal therapy or surgery) may not completely alleviate the pain. The Central Sensitization Inventory (CSI) is a questionnaire previously validated in the chronic pain population. The objective of this study was an exploratory proof-of-concept to identify a CSI cutoff in the endometriosis population to discriminate between individuals with significant central contributors (identified by central sensitivity syndromes [CSS]) to their pain compared to those without. We analyzed a prospective data registry at a tertiary referral center for endometriosis, and included subjects aged 18 to 50 years with endometriosis who were newly or re-referred to the center in 2018. The study sample consisted of 335 subjects with a mean age of 36.0 ± 7.0 years. An increasing number of CSS was significantly correlated with dysmenorrhea, deep dyspareunia, dyschezia, and chronic pelvic pain scores (P < 0.001), and with the CSI score (0-100) (r = 0.731, P < 0.001). Receiver operating characteristic analysis indicated that a CSI cutoff of 40 had a sensitivity of 78% (95% CI: 72.7%-84.6%) and a specificity of 80% (95% CI: 70.3%-84.5%) for identifying a patient with endometriosis with ≥3 CSS. In the group with CSI ≥ 40, 18% retrospectively self-reported pain nonresponsive to hormonal therapy and 40% self-reported daily pain, compared with 6% and 20% in the CSI < 40 group (P = 0.003 and 0.002, respectively). In conclusion, a CSI ≥ 40 may be a practical tool to help identify patients with endometriosis with pain contributors related to central nervous system sensitization.

Dyspareunia in Their Own Words: A Qualitative Description of Endometriosis-Associated Sexual Pain.

INTRODUCTION: Dyspareunia has been called the neglected symptom of endometriosis and is underexplored in clinical and research contexts. Understanding the physical experience and patient-important aspects of endometriosis-associated sexual pain can help advance valid measurement of this symptom. AIMS: The goal of this research was to characterize the physical experience of endometriosis-associated dyspareunia in the words of people affected by this condition. METHODS: This was a qualitative descriptive study that included participants with current or previous endometriosis-associated dyspareunia recruited from a data registry. Data collection involved semistructured interviews that began with an open-ended question about dyspareunia followed by prompts related to the nature of sexual pain. MAIN OUTCOME MEASURES: Interviews transcripts were subjected to qualitative content analysis using a priori (pain site, onset, character, radiation, associations, time course, and exacerbating/relieving factors) and emergent themes. RESULTS: A total of 17 participants completed interviews. Mean participant age was 33.3 years and most were identified as white, college-educated, heterosexual, and partnered. Location, onset, and character were important; interrelated features of endometriosis-associated dyspareunia were: (i) introital pain began with initial penetration and had pulling, burning, and stinging qualities and (ii) pelvic pain was experienced with deep penetration or in certain positions and was described as sharp, stabbing, and cramping. Dyspareunia ranged from mild to severe, had a marked psychosocial impact for some participants, and was managed using a variety of treatments and strategies. CONCLUSION: The endometriosis-associated dyspareunia experienced by participants was heterogenous in presentation, severity, and impact. Our findings have implications for the development of valid patient-reported outcome measures of this symptom. Wahl KJ, Imtiaz S, Lisonek M, et al. Dyspareunia in Their Own Words: A Qualitative Description of Endometriosis-Associated Sexual Pain. Sex Med 2021;9:100274.

Deep Dyspareunia, Superficial Dyspareunia, and Infertility Concerns Among Women With Endometriosis: A Cross-Sectional Study.

INTRODUCTION: Deep dyspareunia is a cardinal symptom of endometriosis, and as many as 40% of people with this condition experience comorbid superficial dyspareunia. AIM: To evaluate the relationship between sexual pain and infertility concerns among women with endometriosis. METHODS: This is a cross-sectional study conducted at a university-based tertiary center for endometriosis. 300 reproductive-aged participants in the prospective Endometriosis Pelvic Pain Interdisciplinary Cohort (ClinicalTrials.gov Identifier: NCT02911090) with histologically confirmed endometriosis were included (2013-2017). MAIN OUTCOME MEASURE: The total score on the infertility concerns module of the Endometriosis Health Profile-30 categorized into 5 groups (0, 1-4, 5-8, 9-12, 13-16). RESULTS: The odds of infertility concerns did not increase with severity of deep dyspareunia (odds ratio = 1.02, 95% CI: 0.95-1.09, P = .58). However, the odds of infertility concerns increased with severity of superficial dyspareunia (odds ratio = 1.09, 95% CI: 1.02-1.16, P = .011); this relationship persisted after adjusting for endometriosis-specific factors, infertility risk factors, reproductive history, and demographic characteristics (adjusted odds ratio [AOR] = 1.14, 95% CI: 1.06-1.24, P < .001). Other factors in the model independently associated with increased infertility concerns were previous difficulty conceiving (AOR = 2.09, 95% CI 1.04-4.19, P = .038), currently trying to conceive (AOR = 5.23, 95% CI 2.77-9.98, P < .001), nulliparity (AOR = 3.21, 95% CI 1.63-6.41, P < .001), and younger age (AOR = 0.94, 95% CI: 0.89-0.98, P = .005). CONCLUSION: Severity of superficial dyspareunia, but not deep dyspareunia, was associated with increased odds of infertility concerns among women with endometriosis. Strengths of the study included the use of a validated measure of infertility concerns and disaggregation of sexual pain into deep and superficial dyspareunia. Limitations included the setting of a tertiary center for pelvic pain, which affects generalizability to fertility clinic and primary care settings. Women experiencing introital dyspareunia, who can have difficulties with achieving penetrative intercourse, may be concerned about their future fertility and should be counselled appropriately. Wahl KJ, Orr NL, Lisonek M, et al. Deep Dyspareunia, Superficial Dyspareunia, and Infertility Concerns Among Women With Endometriosis: A Cross-Sectional Study. Sex Med 2020;8:274-281.

Changes in the incidence and surgical treatment of ankyloglossia in Canada.

BACKGROUND: Recent reports show increases in rates of ankyloglossia and frenotomy in British Columbia. We carried out a study to determine temporal trends and regional variations in ankyloglossia and frenotomy in Canada. METHODS: The study included all hospital-based live births in Canada (excluding Quebec) between April 2002 and March 2015, with information obtained from the Canadian Institute for Health Information. Information on ankyloglossia and frenotomy was obtained from records of hospital admission for childbirth. Temporal trends and provincial/territorial variations were quantified using rate ratios (RR) and 95% confidence intervals (CI). RESULTS: Ankyloglossia rates increased from 6.86 in 2002 to 22.6 per 1000 live births in 2014 (P for trend < 0.001), while frenotomy rates increased from 3.76 in 2002 to 14.7 per 1000 live births in 2014 (P for trend < 0.001). Frenotomy rates among infants with ankyloglossia increased from 54.7% in 2002 to 63.9% in 2014 (RR: 1.18, 95% CI: 1.13-1.24). Compared with British Columbia, rates of ankyloglossia were over three-fold higher in Saskatchewan (RR: 3.40, 95% CI: 3.16-3.67), Alberta (RR: 3.50, 95% CI: 3.29-3.72) and the Yukon (RR: 3.62, 95% CI: 2.67-4.92), while rates of frenotomy were three- to four-fold higher in the Yukon (RR: 3.41, 95% CI: 2.28-5.10), Alberta (RR: 4.01, 95% CI: 3.71-4.33) and Saskatchewan (RR: 4.12, 95% CI: 3.76-4.52). CONCLUSION: A desire to increase rates of breast feeding initiation and absence of standardized criteria for the diagnosis of ankyloglossia have resulted in runaway rates of frenotomy for newborn infants in some parts of Canada.