Elevated rates of autism, other neurodevelopmental and psychiatric diagnoses, and autistic traits in transgender and gender-diverse individuals.
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ABSTRACT:
SUBMITTER: Warrier V
PROVIDER: S-EPMC7415151 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
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Project description:ImportanceTransgender and gender diverse (TGD) individuals, who have a gender identity that differs from their sex assigned at birth, are at increased risk of mental health problems, including depression, anxiety, self-injurious behavior, and suicidality, relative to cisgender peers.ObjectiveTo examine mental health outcomes among TGD vs cisgender adolescents in residential treatment.Design, setting, and participantsThis cohort study's longitudinal design was used to compare groups at treatment entry and discharge, and 1-month postdischarge follow-up. The setting was an adolescent acute residential treatment program for psychiatric disorders. Participants were TGD or cisgender adolescents enrolled in the treatment program. Statistical analysis was performed October 2019 to March 2021.ExposureAdolescents participated in a 2-week acute residential treatment program for psychiatric disorders.Main outcomes and measuresPrimary outcomes were depressive (the Center for Epidemiologic Studies Depression Scale [CES-D]) and anxiety (the Multidimensional Anxiety Scale for Children [MASC]) symptoms, and emotional dysregulation (the Difficulties in Emotion Regulation Scale [DERS]), measured at treatment entry and discharge, and postdischarge follow-up. Age of depression onset, suicidality, self-injury, and childhood trauma also were assessed at treatment entry.ResultsOf 200 adolescent participants who completed treatment entry and discharge assessments, the mean (SD) age was 16.2 (1.5) years; 109 reported being assigned female at birth (54.5%), 35 were TGD (17.5%), and 66 (49.3%) completed 1-month follow-up. TGD participants had an earlier mean (SD) age of depression onset (TGD: 10.8 [2.4] years vs cisgender: 11.9 [2.3] years; difference: 1.07 years; 95% CI, 0.14-2.01 years; P = .02), higher mean (SD) suicidality scores (TGD: 44.4 [23.1] vs cisgender: 28.5 [25.4]; difference: 16.0; 95% CI, 6.4-25.5; P = .001), more self-injurious behavior (mean [SD] RBQ-A score for TGD: 3.1 [2.5] vs cisgender: 1.7 [1.9]; difference: 1.42; 95% CI, 0.69-2.21; P = .001) and more childhood trauma (eg, mean [SD] CTQ-SF score for emotional abuse in TGD: 12.7 [5.4] vs cisgender: 9.8 [4.7]; difference: 2.85; 95% CI, 1.06-4.64; P = .002). The TGD group also had higher symptom scores (CES-D mean difference: 7.69; 95% CI, 3.30 to 12.08; P < .001; MASC mean difference: 7.56; 95% CI, 0.46 to 14.66; P = .04; and DERS mean difference: 18.43; 95% CI, 8.39 to 28.47; P < .001). Symptom scores were significantly higher at entry vs discharge (CES-D mean difference, -12.16; 95% CI, -14.50 to -9.80; P < .001; MASC mean difference: -3.79; 95% CI, -6.16 to -1.42; P = .02; and DERS mean difference: -6.37; 95% CI, -10.80 to -1.94; P = .05) and follow-up (CES-D mean difference: -9.69; 95% CI, -13.0 to -6.42; P < .001; MASC mean difference: -6.92; 95% CI, -10.25 to -3.59; P < .001; and DERS mean difference: -12.47; 95% CI, -18.68 to -6.26; P < .001).Conclusions and relevanceThis cohort study found mental health disparities in TGD youth relative to cisgender youth, with worse scores observed across assessment time points. For all participants, primary clinical outcome measures were significantly lower at treatment discharge than at entry, with no significant differences between discharge and 1-month follow-up. Given the substantial degree of mental health disparities reported in TGD individuals, these findings warrant focused clinical attention to optimize treatment outcomes in gender minority populations.
| S-EPMC8218077 | biostudies-literature
Project description:INTRODUCTION:Important mental and physical health disparities exist for transgender and gender diverse youth compared with cisgender youth (i.e., those whose birth-assigned sex and gender identity align), yet little is known about factors that protect transgender and gender diverse youth from health problems. The objective of this paper is to identify modifiable protective factors in the lives of transgender and gender diverse adolescents, with the goal of informing efforts to eliminate disparities in depression, suicidality, and substance use in this population. METHODS:Secondary data analysis of the 2016 Minnesota Student Survey examined associations between eight protective factors (connectedness to parents, adult relatives, friends, adults in the community, and teachers; youth development opportunities; and feeling safe in the community and at school) and depression, suicidality, and substance use (alcohol, binge drinking, marijuana, nicotine) among 2,168 adolescents who identified as transgender, genderqueer, genderfluid, or questioning their gender. Logistic regressions assessed the role of each protective factor separately and simultaneously. RESULTS:Each protective factor was associated with lower odds of emotional distress and substance use. When protective factors were examined simultaneously, parent connectedness was protective for all measures. Feeling safe at school and connected to adults in one's community protected against depression and suicidality; teacher connectedness buffered risk of substance use. CONCLUSIONS:Given that transgender and gender diverse youth report lower levels of connectedness and safety, bolstering an explicitly transgender and gender diverse-friendly network of caring parents, safe and supportive schools, and connections to adults in the community may support efforts to eliminate disparities in depression, suicidality, and substance use.
| S-EPMC6501838 | biostudies-literature
Project description:The authors' objective was to examine the presence of Axis I and II psychiatric disorders among adult males and females with a history in childhood and/or adolescence of conduct disorder (CD). Data were derived from a large national sample of the U.S. population. Face-to-face interviews of more than 34,000 adults ages 18 years and older were conducted during 2004-2005 using the Alcohol Use Disorder and Associated Disabilities Interview Schedule-DSM-IV Version. After adjusting for sociodemographic characteristics and psychiatric comorbidity, CD was associated with all Axis I and II disorders, particularly substance use disorders (SUD), bipolar disorder, and histrionic personality disorders. After adjusting for gender differences in the general population, men had significantly greater odds of social anxiety disorder and paranoid personality disorder, whereas women were more likely to have SUD. Furthermore, there was dose-response relationship between number of CD symptoms and risk for most psychiatric disorders. From a clinical standpoint, knowledge of the gender differences in associations of CD with other psychiatric disorders in adulthood may be informative of developmental pathways of the disorder, and of possible gender-specific risk factors. Early recognition and treatment of CD may help prevent the development of adult-onset disorders.
| S-EPMC3288967 | biostudies-literature
Project description:BackgroundLarge administrative databases often do not capture gender identity data, limiting researchers' ability to identify transgender people and complicating the study of this population.ObjectiveThe objective of this study was to develop methods for identifying transgender people in a large, national dataset for insured adults.Research designThis was a retrospective analysis of administrative claims data. After using gender identity disorder (GID) diagnoses codes, the current method for identifying transgender people in administrative data, we used the following 2 strategies to improve the accuracy of identifying transgender people that involved: (1) Endocrine Disorder Not Otherwise Specified (Endo NOS) codes and a transgender-related procedure code; or (2) Receipt of sex hormones not associated with the sex recorded in the patient's chart (sex-discordant hormone therapy) and an Endo NOS code or transgender-related procedure code.SubjectsSeventy-four million adults 18 years and above enrolled at some point in commercial or Medicare Advantage plans from 2006 through 2017.ResultsWe identified 27,227 unique transgender people overall; 18,785 (69%) were identified using GID codes alone. Using Endo NOS with a transgender-related procedure code, and sex-discordant hormone therapy with either Endo NOS or transgender-related procedure code, we added 4391 (16%) and 4051 (15%) transgender people, respectively. Of the 27,227 transgender people in our cohort, 8694 (32%) were transmasculine, 3959 (15%) were transfeminine, and 14,574 (54%) could not be classified.ConclusionIn the absence of gender identity data, additional data elements beyond GID codes improves the identification of transgender people in large, administrative claims databases.
| S-EPMC8010422 | biostudies-literature
Project description:BackgroundThe purpose of this formative study was to assess barriers and facilitators to participation of transgender and gender diverse (TGD) patients in clinical research to solicit specific feedback on perceived acceptability and feasibility of research methods to inform creation of a multisite longitudinal cohort of primary care patients engaged in care at two community health centers.MethodBetween September-November 2018, four focus groups (FGs) were convened at two community health centers in Boston, MA and New York, NY (N = 28 participants across all 4 groups; 11 in Boston and 17 in New York). FG guides asked about patient outreach, acceptability of study methods and measures, and ideas for study retention. FGs were facilitated by TGD study staff, lasted approximately 90 min in duration, were audio recorded, and then transcribed verbatim by a professional transcription service. Thematic analyses were conducted by two independent analysts applying a constant comparison method. Consistency and consensus were achieved across code creation and application aided by Dedoose software.ResultsParticipants were a mean age of 33.9 years (SD 12.3; Range 18-66). Participants varied in gender identity with 4 (14.3%) men, 3 (10.7%) women, 8 (28.6%) transgender men, 10 (35.7%) transgender women, and 3 (10.7%) nonbinary. Eight (26.6%) were Latinx, 5 (17.9%) Black, 3 (10.7%) Asian, 3 (10.7%) another race, and 5 (17.9%) multiracial. Motivators and facilitators to participation were: research creating community, research led by TGD staff, compensation, research integrated into healthcare, research applicable to TGD and non-TGD people, and research helping TGD communities. Barriers were: being research/healthcare averse, not identifying as TGD, overlooking questioning individuals, research coming from a 'cisgender lens", distrust of how the research will be used, research not being accessible to TGD people, and research being exploitative.ConclusionThough similarities emerged between the perspectives of TGD people and research citing perspectives of other underserved populations, there are barriers and facilitators to research which are unique to TGD populations. It is important for TGD people to be involved as collaborators in all aspects of research that concerns them.
| S-EPMC8487157 | biostudies-literature
Project description:Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics for ASD by considerably increasing the diagnostic yield. However, the proportion of undiagnosed patients still remains high due to complex clinical presentation, reduced penetrance, and lack of segregation analysis or clinical information. Thus, reverse phenotyping, where we first identified a possible genetic cause and then determine its clinical relevance, has been shown to be a more efficient approach. WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or "single event" variants in ASD-associated genes and further expanded to NDD-associated genes. Protein function and gene prioritization were performed on detected clinically relevant variants to determine their role in ASD etiology and phenotype. Reverse phenotyping revealed a pathogenic or likely pathogenic variant in ASD-associated genes in 20.4% of patients, with subsequent segregation analysis indicating that 14 were de novo variants and 1 was presumed compound heterozygous. The diagnostic yield was further increased by 2.7% by the analysis of ultrarare or "single event" variants in all NDD-associated genes. Protein function analysis established that genes in which variants of unknown significance (VUS) were detected were predominantly the cause of intellectual disability (ID), and in most cases, features of ASD as well. Using such an approach, variants in rarely described ASD-associated genes, such as SIN3B, NR4A2, and GRIA1, were detected. By expanding the analysis to include functionally similar NDD genes, variants in KCNK9, GNE, and other genes were identified. These would probably have been missed by classic genotype-phenotype analysis. Our study thus demonstrates that in patients with ASD, analysis of ultrarare or "single event" variants obtained using WES with the inclusion of functionally similar genes and reverse phenotyping obtained a higher diagnostic yield despite limited clinical data. The present study also demonstrates that most of the causative genes in our cohort were involved in the syndromic form of ASD and confirms their comorbidity with other developmental disorders.
| S-EPMC9259896 | biostudies-literature
Project description:ObjectiveThere is a paucity of literature on genetic diagnosis in psychiatric populations, particularly the vulnerable population of patients with concomitant neurodevelopmental disorder (NDD). In this cross-sectional study, we investigated the genetic diagnostic rate in 151 adult psychiatric patients from two centers in Ontario, Canada, including a large subset (73.5%) with concurrent NDD, and performed phenotypic analysis to determine the strongest predictors for the presence of a genetic diagnosis.MethodPatients 16 years of age or older and affected with a psychiatric disorder plus at least one of NDD, neurological disorder, congenital anomaly, dysmorphic features, or family history of NDD were recruited through the genetics clinics between 2012 and 2016. Patients underwent genetic assessment and testing according to clinical standards. Chi-squared test was used for phenotypic comparisons. Multivariate logistic regression analysis was performed to determine which phenotypic features were predictive of genetic diagnosis types.ResultsOverall, 45.7% of patients in the total cohort were diagnosed with genetic disorders with the vast majority of diagnoses (89.9%) comprising single gene and chromosomal disorders. There were management and treatment implications for almost two-thirds (63.8%) of diagnosed patients. Presence of a single gene disorder or chromosomal diagnosis was predicted by differing combinations of neurological, NDD, and psychiatric phenotypes.ConclusionThe results of this study highlight the frequency and impact of genetic diagnosis in psychiatric populations, particularly those with concomitant NDD. Genetic assessment should be considered in psychiatric patients, particularly those with multiple brain phenotypes (psychiatric, neurodevelopmental, neurological).
| S-EPMC7658423 | biostudies-literature
Project description:There is a paucity of systematic data reflecting the practice of electroconvulsive therapy (ECT) from developing countries.We aimed to identify the number of ECT sessions required to yield response and gender diffeferences in the number of sessions across various diagnostic categories.A record-based study from a teaching cum tertiary care hospital in South India.Case records of patients who received modified ECT from January 2011 to January 2016 were reviewed. The sociodemographic details and ECT-related data were collected. Psychiatric diagnoses were ascertained as per the International Classification of Diseases, 10th Revision criteria.Kruskal-Wallis test and Mann-Whitney U-test.Among 148 patients, 82 (55.4%) had mood disorder (bipolar disorder and recurrent depressive disorder), 43 (29.1%) had schizophrenia, and 22 (14.9%) had other acute and transient psychotic disorders (ATPDs). Patients with mood disorders, schizophrenia, and other ATPD received 7.3 (± 3.8), 9.7 (± 6.1), and 5.4 (± 2.0) ECT sessions, respectively, to achieve response. There was no gender difference in the number of sessions received.Our findings show that number of ECT sessions required to yield response may be disorder-specific. Gender does not influence the ECT dose requirement. Variations in ECT parameters across settings may limit the generalizability of results.
| S-EPMC5488566 | biostudies-other
Project description:ObjectiveThe purpose of this study is to describe online health information seeking among a sample of transgender and gender diverse (TGD) people compared with cisgender sexual minority people to explore associations with human papillomavirus (HPV) vaccination, and whether general health literacy and eHealth literacy moderate this relationship.Materials and methodsWe performed a cross-sectional online survey of TGD and cisgender sexual minority participants from The PRIDE Study, a longitudinal, U.S.-based, national health study of sexual and gender minority people. We employed multivariable logistic regression to model the association of online health information seeking and HPV vaccination.ResultsThe online survey yielded 3258 responses. Compared with cisgender sexual minority participants, TGD had increased odds of reporting HPV vaccination (aOR, 1.5; 95% CI, 1.1-2.2) but decreased odds when they had looked for information about vaccines online (aOR, 0.7; 95% CI, 0.5-0.9). TGD participants had over twice the odds of reporting HPV vaccination if they visited a social networking site like Facebook (aOR, 2.4; 95% CI, 1.1-5.6). No moderating effects from general or eHealth literacy were observed.DiscussionDecreased reporting of HPV vaccination among TGD people after searching for vaccine information online suggests vaccine hesitancy, which may potentially be related to the quality of online content. Increased reporting of vaccination after using social media may be related to peer validation.ConclusionsFuture studies should investigate potential deterrents to HPV vaccination in online health information to enhance its effectiveness and further explore which aspects of social media might increase vaccine uptake among TGD people.
| S-EPMC8757308 | biostudies-literature
Project description:Common genetic variants in and around the gene encoding transcription factor 4 (TCF4) are associated with an increased risk of schizophrenia. Conversely, rare damaging TCF4 mutations cause Pitt-Hopkins syndrome and have also been found in individuals with intellectual disability (ID) and autism spectrum disorder (ASD).Chromatin immunoprecipitation and next generation sequencing were used to identify the genomic targets of TCF4. These data were integrated with expression, epigenetic and disease gene sets using a range of computational tools.We identify 10604 TCF4 binding sites in the genome that were assigned to 5437 genes. De novo motif enrichment found that most TCF4 binding sites contained at least one E-box (5'-CAtcTG). Approximately 77% of TCF4 binding sites overlapped with the H3K27ac histone modification for active enhancers. Enrichment analysis on the set of TCF4 targets identified numerous, highly significant functional clusters for pathways including nervous system development, ion transport and signal transduction, and co-expression modules for genes associated with synaptic function and brain development. Importantly, we found that genes harboring de novo mutations in schizophrenia (P = 5.3 × 10-7), ASD (P = 2.5 × 10-4), and ID (P = 7.6 × 10-3) were also enriched among TCF4 targets. TCF4 binding sites were also found at other schizophrenia risk loci including the nicotinic acetylcholine receptor cluster, CHRNA5/CHRNA3/CHRNB4 and SETD1A.These data demonstrate that TCF4 binding sites are found in a large number of neuronal genes that include many genetic risk factors for common neurodevelopmental disorders.
| S-EPMC6101561 | biostudies-other