Use of gender-inclusive language in genetic counseling to optimize patient care.

Providing welcoming, inclusive, and culturally competent care is essential for genetic counselors (GCs) to serve the needs of all patients, including transgender and nonbinary (TGNB) individuals. Inclusive language creates welcoming healthcare spaces and improves health outcomes for TGNB individuals. Training on gender-affirming healthcare can increase knowledge, comfort, and self-efficacy working with TGNB patients. Using a mixed-method survey, this study assessed 65 GCs' gender-inclusive communication practices and elucidated reasons for discomfort using language to determine how language builds trust and fosters patient-provider relationships, ascertain differences between specialties, and identify potential gaps in education and professional development. This study found that approximately one-third of GCs are comfortable using gender-inclusive language and just over half regularly use it with patients. Most GCs do not share their pronouns or ask patients theirs, which was not correlated with comfort levels or frequency of using gender-inclusive language. There were no significant differences based on specialty. Thematic analysis of open responses revealed GCs used gendered language to promote shared language and for clarity, some mentioning sex assigned at birth was relevant for risk assessment. Most felt the impact of gendered language depended on the patient's perspective. Twenty-five percent noted gendered language was familiar for most patients and 40% recognized negative impacts on TGNB individuals. Most GCs desired more gender-inclusivity training even though >95% had some type previously. Those who had gender-inclusivity training in their genetic counseling program were more comfortable using gender-inclusive language and were more likely to share their pronouns with patients. This study adds to the growing body of literature demonstrating GCs' desire for more gender-inclusivity education and highlights the potential importance of having this education integrated into genetic counseling training programs. GCs should continue to incorporate gender-inclusive language into their practice in concordance with the tenants of the Reciprocal Engagement Model.

Picture this: Evaluating the efficacy of genetic counseling visual aids.

Visual aids have been validated as effective tools for educating patients in a variety of medical settings. However, research exploring the efficacy and potential benefit of genetic counseling visual aids is lacking. To begin to address this gap, this study assessed participant knowledge of genetic counseling concepts after viewing either visual or non-visual educational content. Participants were recruited from the general population using the crowdsourcing platform Mechanical Turk. Wilcoxon rank-sum tests were carried out to evaluate differences in knowledge survey scores between the visual and non-visual groups, and Poisson regression models were fitted to evaluate these differences across a variety of demographic backgrounds. The visual group had equal or higher scores than the non-visual group across all analyses. The difference in group scores was statistically significant for autosomal recessive inheritance knowledge scores (p < 0.05). In addition, this difference was approaching significance for higher-level knowledge scores (p = 0.05) and total knowledge scores in individuals who have not completed post-secondary education (p = 0.05). These results indicate that visual aids improve knowledge of specific genetic counseling concepts such as inheritance patterns; the education of which is often integral to genetic counseling. These results also indicate that visual aids may facilitate a deeper understanding of genetic counseling concepts and may be particularly valuable for individuals with lower educational backgrounds. Together, the results of this study support the inclusion of visual aids in genetic counseling education to help improve patient understanding and the accessibility of genetic healthcare information.

Exploring empathy in genetic counseling students and new genetic counselors.

Although empathy is widely recognized as an important trait for healthcare professionals, little research has examined empathy attributes in genetic counselors. Decreases in empathy levels have been recognized in other healthcare professionals over the span of their professional education program. This research sought to characterize empathy levels in first- and second-year genetic counseling students and recent (2017) graduates, and to determine whether there are differences in empathy levels displayed by genetic counseling students at different points in their training. Additionally, this research examined whether experiences prior to graduate school, including specific aspects of advocacy experience, correlated with differences in self-reported empathy levels among genetic counseling students and new genetic counselors. An online survey was administered to first- and second-year genetic counseling students and practicing genetic counselors to determine whether there were differences in empathy levels between these groups, and to analyze for associations between pre-graduate school advocacy work and levels of empathy as measured by the Interpersonal Reactivity Index (IRI). We identified significant differences in self-reported empathy levels in several of the subscales of the IRI between first-year students and second-year students, and between first-year students and recent graduates. Furthermore, we identified significantly lower scores on the personal distress subscale of the IRI in participants who engaged in advocacy work for longer than 12 months when compared to participants who engaged in advocacy work for between 6 and 12 months. Other advocacy and educational characteristics were also examined for correlations with IRI scores, and no significant associations were identified between these additional factors and self-reported empathy scores. Practice implications and recommendations for future research are discussed.

Preparing genetic counselors to serve Native American communities.

As a medical specialty, genetic counseling (GC) espouses cultural sensitivity, a patient-centered approach, and an eye for the individual, familial, and community-wide implications of genetics and genomics in medicine. Within the past decades, the field of GC has recognized and attempted to address a need for the greater diversity of providers and practice settings that will help to address health inequities across underrepresented communities (Channaoui et al., 2020). Accreditation for GC training programs mandates equipping students with multicultural sensitivity and knowledge on health disparities. Currently however, there are limited published data about how GC programs are accomplishing these aims for Native American individuals and communities. Furthermore, there are limited published data on the unique needs and perspectives of Native Americans who may seek GC services. This disconnect may pose barriers for genetic counselors who aim to provide respectful and relevant care to Native American patients. Education of GC students is one important way to set the tone for a lifetime of practice and to inspire awareness and action toward alleviating disparities. Thus, we surveyed GC training programs in North America to investigate how they are working to (a) address disparities in Native American professional representation and student enrollment, (b) deliver culturally relevant curricula and clinical opportunities that serve the needs of Native Americans, and (c) positively engage Native American communities in North America. We found that reported recruitment efforts, curricula content, clinical opportunities, and community engagement efforts to address the needs of Native American are limited across GC training programs surveyed. By bringing awareness to current methods, success factors, and barriers in this space, we hope to open the door for meaningful partnerships between leaders of Native American communities and GC training programs in the pursuit of greater equity.

An exploration of genetic counseling information needs and information-seeking behaviors.

Genetic counseling is a rapidly growing field with increasingly diverse practice settings. The growth of genomics and precision medicine across all medical specialties has been accompanied by corresponding growth in the amount of information available to genetic counselors. However, few published studies on genetic counseling information needs and seeking behaviors exist, and none look at information use across the profession. Meanwhile, a substantial body of research exists on this topic for other healthcare professionals, providing an evidence base supporting profession-tailored information-related services and resources. The purpose of this cross-sectional study was to explore genetic counseling information needs and seeking behaviors and to compare these needs and seeking behaviors across genetic counseling students and genetic counselors broadly, as well as to explore differences across various professional subgroups of genetic counselors. Genetic counselors and genetic counseling students were recruited via the National Society of Genetic Counselors and accredited genetic counseling programs to complete an online survey assessing information needs and seeking behaviors. Respondents were asked how often they used 70 different resources; whether 16 specific situations required additional information and how long it would take to get it and about specific barriers to obtaining that information. The results included a range of observations, including that GeneReviews and PubMed are frequently used resources across all respondents, that genetic counselors working 0-5 years are significantly more likely to need additional information when counseling patients from different cultural backgrounds than those working 6+ years, and that not having enough time is a common barrier to getting information across various situations. These results provide initial evidence to guide additional study on the efficient use and provision of information within the genetic counseling field.

Alternative option labeling impacts decision-making in noninvasive prenatal screening.

Prenatal genetic screening should be an informed, autonomous patient choice. Extrinsic factors which influence patient decision-making threaten the ethical basis of prenatal genetic screening. Prior research in the area of medical decision-making has identified that labeling may have unanticipated effects on patient perceptions and decision-making processes. This Internet-administered study explored the impact of option labeling on the noninvasive prenatal screening (NIPS) selections of US adults. A total of 1,062 participants were recruited through Amazon Mechanical Turk (MTurk) and randomly assigned to one of three possible label sets reflecting provider-derived and industry-derived option labels used in prenatal screening. Multinomial logistic regression analysis showed option labeling had a statistically significant impact on the NIPS selections of study participants (p = .0288). Outcomes of the Satisfaction with Decision Scale (SWD) indicated option labels did not play a role in participant satisfaction with screening selection. The results of this study indicate a need for further evaluation of the impact NIPS option labeling has on patient screening decisions in real-world clinical interactions. Clinical providers and testing laboratories offering NIPS should give careful consideration to the option labels used with prenatal screening so as to minimize influence on patient screening selection and decision-making processes.

Genetic counselor workforce generational diversity: Millennials to Baby Boomers.

There are currently three generations of individuals that make up the genetic counselor workforce: Baby-Boomers, Generation X, and Millennials. These generations are presumed to be shaped by the historical, cultural, and social events that occurred during critical developmental periods. Understanding the underlying perceptions and viewpoints of genetic counselors regarding the multigenerational workforce may facilitate successful working relationships as well as recognition of the perceived unique characteristics that each generation offers. An online survey was distributed to practicing genetics counselors (GC) and genetic counseling students through the National Society of Genetic Counselors and the American Board of Genetic Counseling to elicit opinions about the perceived characteristics or skills of genetic counselors in each generation. Respondents (n = 407, estimated 10% response) preferentially assigned certain traits or skills to specific generations including their own. Findings suggest GC Baby Boomers were least likely to be described as "comfortable with phone or skype counseling" (p < 0.0001), Millennial GC, were least often assigned the term "Strong respect for authority" (p < 0.0005) and Generation X GC were most likely to be described as "Does not ask for feedback" (p < 0.05). These research findings demonstrate that GC perceive that their colleagues from every generation have unique attributes to bring to the profession and these attributes match those typically described in the U.S. literature about non-GC cohorts.

Counseling Close to Home: Genetic Counselors' Experiences with their own Family Members.

Genetic counselors are trained to provide personalized genetic information and support to clients and their families. When requests for counseling comes from the counselor's own family member, should that counselor still provide service? There is a paucity of literature regarding genetic counselors counseling their own family members and no specific recommendations regarding how to reply to requests for genetic information from relatives. The purpose of this mixed methods study was to report genetic counselors' and genetic counseling students' perspectives and experiences providing genetic counseling to relatives. In the present study, 423 genetic counselors and genetic counseling students completed a 70-item web-based survey that explored genetic counselors' experiences counseling family members outside of a clinic setting. The majority (73%; n = 301/410) of respondents have been asked to provide genetic counseling. Over half (57%; n = 257/423) provided counseling, personalized genetic information or risk assessment to family members. Only a small fraction of respondents (11%; n = 45/420) responded that they received any formal training in their graduate education, or in any other capacity that addressed the issue of how genetic counselors should respond to genetic counseling requests made family members. Those who have were less likely to provide genetic counseling to a family member (p < 0.05). Respondents who provided genetic counseling to relatives were significantly more likely to think their colleagues would do the same. Those who never provided genetic counseling to relatives were more likely to think their colleagues would refer to an unrelated genetic counselor (p < 0.0001). We highlight how our results have clinical and professional implications and provide suggestions to generate discussion among genetic counselors on how they might respond to requests for counseling from family members.

Perceived Changes to Obstetric Care and the Integration of Personal and Professional Life as a Pregnant Prenatal Genetic Counselor.

The impact of practicing as a prenatal genetic counselor while pregnant is unclear given the limited amount of published literature on this issue. To address this gap in knowledge, a total of 215 current and past prenatal genetic counselors provided insights regarding this personal yet professional juncture through completion of an online survey that allowed for both close-ended and open-ended responses. While participants agreed that experiencing pregnancy affected their perspectives and counseling in several ways, this paper focuses on one particular finding-that of the changes in their own obstetric care perceived by genetic counselors while working within the prenatal setting and being pregnant themselves. As a result of these changes, considerations about when to disclose a pregnancy to colleagues along with how to integrate personal and professional needs as a pregnant prenatal genetic counselor surfaced. Additional findings, practice implications, and research recommendations are discussed.

Working with the Hmong Population in a Genetics Setting: an Interpreter Perspective.

The aim of this pilot qualitative study was to describe the experiences and beliefs of medical interpreters when working with genetic counselors and other genetic providers caring for Hmong patients who are not native English speakers. Specific goals were to identify interpreters' thoughts and perceptions on (a) their roles during sessions, (b) unique challenges in a genetics session, (c) knowledge genetics providers need when working with Hmong patients and interpreters, and (d) supports and training needed to effectively interpret in a genetics setting. Hmong medical interpreters from Wisconsin and Minnesota were invited by email to participate in the study. Six were interviewed by telephone. Participants had worked with a variety of providers including geneticists, genetic counselors, primary care physicians, and oncologists. Factors identified by Hmong interpreters that made interpretation of content difficult in clinical genetics sessions included: time constraints, technical terms, and unique cultural perspectives of Hmong patients. While all respondents felt their primary role was to interpret session content as close to verbatim as possible, there was notable variation in the description of their interpretation style and other perceived roles in the genetic counseling session. Cultural issues genetics providers could consider when working with Hmong patients and different style issues when working with Hmong interpreters are discussed. Ideas for future studies and suggestions to improve communication with Hmong patients are explored.

Working with the Hmong Population in a Genetics Setting: Genetic Counselor Perspectives.

The Hmong language lacks words for many familiar Western medical genetic concepts which may impact genetic counseling sessions with individuals of Hmong ancestry who have limited English proficiency. To study this interaction, a qualitative, semi-structured interview was designed to address genetic counselors' experiences of genetic counseling sessions working with individuals with Hmong ancestry. Genetic counselors in the three states with the largest population of Hmong individuals (California, Minnesota and Wisconsin) were invited via email to participate in a telephone interview. Eleven counselors' interviews were transcribed and analyzed for emergent themes. Each of the counselors had served Hmong patients in a variety of clinics and possessed counseling experience ranging from approximately one to greater than 20 years. Interviews highlighted strengths and challenges in genetic counseling sessions with Hmong patients with limited English proficiency in each of five categories: 1) relevant training during graduate school, 2) session preparation, 3) content of the counseling session, 4) perception of Hmong culture, and 5) reflections on working with Hmong interpreters. Cultural awareness and education in training programs were highlighted by all genetic counselors as valued components to patient care. All interviewees had worked with professional Hmong medical interpreters, but had different expectations for the interpreter with whom they worked. To help improve genetic services for Hmong individuals in the United States, we offer suggestions to improve some of the challenges mentioned, and recommend further studies to investigate the genetic counselor and interpreter relationship.

Is Low FMR1 CGG Repeat Length in Males Correlated with Family History of BRCA-Associated Cancers? An Exploratory Analysis of Medical Records.

The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men. Therefore, this study aimed to examine cancer incidence and related risk factors in men with low CGG repeat length in the FMR1 gene. We utilized subject data from the Marshfield Personalized Medicine Research Project to compare cancer-related diagnoses between 878 males with low CGG repeat length (< 24 repeats) and 368 male controls with CGG repeats in the normal range (24 to 40 repeats). We utilized ICD-9 codes to examine various cancer diagnoses, family histories of cancer, other non-malignant neoplasms, cancer surveillance, and genetic susceptibility. Men with low CGG repeats were identified to have significantly higher rates of family history of any cancer type (p = 0.011), family history of any BRCA-associated cancer (p = 0.002), and specifically, family history of prostate cancer (p = 0.007). The mean number of BRCA-associated cancer diagnoses (breast, prostate, pancreatic, and melanoma) per individual in the low CGG group was slightly higher than that of the control group, with this difference trending toward significance (p = 0.091). Additionally, men with low CGG repeats had significantly higher rates of connective/soft tissue neoplasms (p = 0.026). Additional research is needed to replicate the observations reported in this preliminary exploratory study, particularly including verification of ICD-9 codes and family history by a genetic counselor.

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.

What is appropriate to post on social media? Ratings from students, faculty members and the public.

OBJECTIVES: The purpose of this study was to ascertain what medical students, doctors and the public felt was unprofessional for medical students, as future doctors, to post on a social media site, Facebook(®) . The significance of this is that unprofessional content reflects poorly on a student, which in turn can significantly affect a patient's confidence in that student's clinical abilities. METHODS: An online survey was designed to investigate the perceptions of University of Michigan medical students, attending physicians and non-health care university-wide employees (that serves as a subset of the public) regarding mock medical students' Facebook(®) profile screenshots. For each screenshot, respondents used a 5-point Likert scale to rate 'appropriateness' and whether they would be 'comfortable' having students posting such content as their future doctors. RESULTS: Compared with medical students, faculty members and public groups rated images as significantly less appropriate (p < 0.001) and indicated that they would be less comfortable (p < 0.001) having posting students as future doctors. All three groups rated screenshots containing derogatory or private information about patients, followed by images suggesting marijuana use, as least appropriate. Images conveying intimate heterosexual couples were rated as most appropriate. Overall, the doctor group, females and older individuals were less permissive when compared with employee and student groups, males and younger individuals, respectively. CONCLUSIONS: The most significant conclusion of our study is that faculty members, medical students and the 'public' have different thresholds of what is acceptable on a social networking site. Our findings will prove useful for students to consider the perspectives of patients and faculty members when considering what type of content to post on their social media sites. In this way, we hope that our findings provide insight for discussions, awareness and the development of guidelines related to online professionalism for medical students.

Genetic counseling graduate student debt: impact on program, career and life choices.

The cost of education is rising, increasing student financial aid and debt for students pursuing higher education. A few studies have assessed the impact of student debt in medicine, physical therapy and social work, but little is known about the impact of student debt on genetic counseling students and graduates. To address this gap in knowledge, a web-based study of 408 recent alumni of genetic counseling programs in North America was conducted to assess the impact of student debt on program, career and life choices. Over half (63 %; n = 256/408) of the participants reported that loans were extremely important in their ability to attend their training program, with most using subsidized loans no longer available to current graduate students. While participants were generally satisfied with their genetic counseling education, 83 % (n = 282/342) of participants with student debt reported feeling burdened by their debt, which had a median of $40,000-$50,000. This debt is relatively close to the median starting salary reported by survey participants ($45,000-$50,000), breaching the "20-10 rule" that states student debt should not exceed 20 % of annual net income. In response to this critical issue, we propose recommendations for the genetic counseling field that may help alleviate student debt impact and burden.

LGBTQ+ health education for medical students in the United States: a narrative literature review.

INTRODUCTION: People who identify as lesbian, gay, bisexual, transgender, queer/questioning, intersex, and other sexual/gender minorities (LGBTQ+) may experience discrimination when seeking healthcare. Medical students should be trained in inclusive and affirming care for LGBTQ+ patients. This narrative literature review explores the landscape of interventions and evaluations related to LGBTQ+ health content taught in medical schools in the USA and suggests strategies for further curriculum development. METHODS: PubMed, ERIC, and Education Research Complete databases were systematically searched for peer-reviewed articles on LGBTQ+ health in medical student education in the USA published between 1 January 2011-6 February 2023. Articles were screened for eligibility and data was abstracted from all eligible articles. Data abstraction included the type of intervention or evaluation, sample population and size, and key outcomes. RESULTS: One hundred thirty-four articles met inclusion criteria and were reviewed. This includes 6 (4.5%) that evaluate existing curriculum, 77 (57.5%) study the impact of curriculum components and interventions, 36 (26.9%) evaluate student knowledge and learning experiences, and 15 (11.2%) describe the development of broad learning objectives and curriculum. Eight studies identified student knowledge gaps related to gender identity and affirming care and these topics were covered in 34 curriculum interventions. CONCLUSION: Medical student education is important to address health disparities faced by the LGBTQ+ community, and has been an increasingly studied topic in the USA. A variety of curriculum interventions at single institutions show promise in enhancing student knowledge and training in LGBTQ+ health. Despite this, multiple studies indicate that students report inadequate education on certain topics with limitations in their knowledge and preparedness to care for LGBTQ+ patients, particularly transgender and gender diverse patients. Additional integration of LGBTQ+ curriculum content in areas of perceived deficits could help better prepare future physicians to care for LGBTQ+ patients and populations.

The Burden of Burnout and Importance of Mentorship for Preclinical Medical Students: Perspectives From a Public University Medical School.

BACKGROUND: Physician burnout often stems from burnout in medical students that began during the first year of medical education. Individual factors contributing to burnout must be considered within the demands of rigorous curricula and personal ambitions. This study focused on understanding how burnout is perceived by students and the impact mentorship had on its incidence and onset. METHODS: A literature review guided the development of a facilitator guide that outlined factors causing burnout. Preclinical medical students from the University of Wisconsin School of Medicine and Public Health were recruited for online focus groups. Responses were analyzed using hierarchical inductive coding, and identified themes were utilized to create a 2-part electronic Qualtrics survey focused on key aspects and timepoints of burnout. Part A of the survey was sent the summer after the first year of medical school (M1), and Part B was sent after the final course of the second year (M2). RESULTS: Nineteen percent of students agreed they entered medical school burnt out. The percentage of survey respondents who were not burnt out at each consecutive block in their first year decreased from 80% during the first block to 20% at the beginning of the last block. Focus group and survey results found that mentorship had positive effects on burnout, and students noted increased needs for mental health services. CONCLUSIONS: Understanding key pressure points and essential resources for addressing student burnout allows for improved education and personal outcomes. Alleviating factors were strong mentorship, mental health resources, and streamlined faculty communication. Increasing burnout highlights the importance of interventions to reduce long-lasting effects on student performance and well-being.

Perceptions of the Minority Tax Experienced by Faculty and Students Underrepresented in Medicine at the University of Wisconsin.

INTRODUCTION: The minority tax in academic medicine can be defined as the additional responsibilities placed on underrepresented in medicine (URiM) faculty, staff, and students in the name of diversity. Often this looks like participating in additional diversity committees, recruitment efforts, and mentorship activities. These extra responsibilities often are not recognized, not included in promotions, and take time from other clinical, research, and traditional scholarly responsibilities. OBJECTIVES: There is a significant gap in the literature examining the experiences of URiM-identifying faculty and students in relation to the minority tax. Our goal was to do a quality improvement project to explore this gap through interviewing URiM-identifying faculty and conducting focus groups with URiM-identifying students, with the goal of making recommendations to help reduce the minority tax burdens to this community. METHODS: A scoping literature review on the minority tax burden in academic medicine was used to inform the development of questions to use in focus groups of URiM University of Wisconsin School of Medicine and Public Health (UWSMPH) students and interviews of URiM UWSMPH faculty members. After development of a facilitation guide, we conducted three 1-hour focus groups with 14 students who identified as URiM and did eight 30-minute interviews with faculty who identified as URiM. A codebook was generated using inductive analysis after reviewing transcripts. Coding was performed independently with 2 separate coders in order to ensure inter-coder reliability. RESULTS: Ninety-one percent of students and 62.5% of faculty endorsed experiencing the minority tax at UWSMPH. Faculty also reported increasing feelings of support due to UWSMPH programs that support URiM faculty. Students reported the minority tax being central to their role as URiM students. Both students and faculty reported that the additional burdens of the minority tax took time away from traditional scholarly activities that were essential for promotion (faculty) or residency (students). CONCLUSIONS: The minority tax burden experienced by URiM faculty and students may negatively affect their careers, as they note spending more time on activities that may not be valued for promotion. It is essential to address these burdens in order to achieve equity within the medical institution.

Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience.

Hypermobility type Ehlers-Danlos syndrome (EDS-HT) is an inherited connective tissue disorder clinically diagnosed by the presence of significant joint hypermobility and associated skin manifestations. This article presents a large-scale study that reports the lived experience of EDS-HT patients, the broad range of symptoms that individuals with EDS-HT experience, and the impact these symptoms have on daily functioning. A 237-item online survey, including validated questions regarding pain and depression, was developed. Four hundred sixty-six (466) adults (90% female, 52% college or higher degree) with a self-reported diagnosis of EDS-HT made in a clinic or hospital were included. The most frequently reported symptoms were joint pain (99%), hypermobility (99%), and limb pain (91%). They also reported a high frequency of other conditions including chronic fatigue (82%), anxiety (73%), depression (69%), and fibromyalgia (42%). Forty-six percent of respondents reported constant pain often described as aching and tiring/exhausting. Despite multiple interventions and therapies, many individuals (53%) indicated that their diagnosis negatively affected their ability to work or attend school. Our results show that individuals with EDS-HT can experience a wide array of symptoms and co-morbid conditions. The degree of constant pain and disability experienced by the majority of EDS-HT respondents is striking and illustrates the impact this disorder has on quality of life as well as the clinical challenges inherent in managing this complex connective tissue disorder.

Mutant deoxynucleotide carrier is associated with congenital microcephaly.

The disorder Amish microcephaly (MCPHA) is characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine and premature death. The disorder is inherited in an autosomal recessive pattern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County, Pennsylvania. Here we show, by using a genealogy database and automated pedigree software, that 23 nuclear families affected with MCPHA are connected to a single ancestral couple. Through a whole-genome scan, fine mapping and haplotype analysis, we localized the gene affected in MCPHA to a region of 3 cM, or 2 Mb, on chromosome 17q25. We constructed a map of contiguous genomic clones spanning this region. One of the genes in this region, SLC25A19, which encodes a nuclear mitochondrial deoxynucleotide carrier (DNC), contains a substitution that segregates with the disease in affected individuals and alters an amino acid that is highly conserved in similar proteins. Functional analysis shows that the mutant DNC protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes MCPHA. Our data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth.