A comparison of gender diversity in transgender young people with and without autistic traits from the Trans 20 cohort study.

Background: There is an elevated co-occurrence of autism in trans individuals, with recent meta-analyses suggesting that 11% of trans individuals are autistic. The presence of autism in trans young people can create clinical challenges by adding complexity to the presentation, assessment and management of those presenting to gender clinics. Although many trans young people display traits of autism, how these traits relate to the nature of their gender diversity is unclear. Methods: This study compared gender identity, gender expression and gender dysphoria (GD) in trans young people with and without autistic traits. Baseline data from a cohort study of trans children and adolescents who first attended the Royal Children's Hospital Gender Service (Victoria, Australia) between February 2017 and January 2020 were analysed cross-sectionally. Autistic traits were assessed via the Social Responsiveness Scale-2. Gender was assessed using tools that measure gender identity, social transition, GD, body dissatisfaction, voice dysphoria, and chest dysphoria. Findings: 522 participants were included, of whom 239 (45.8%) exhibited autistic traits (SRS total T-score ≥60). Those with and without autistic traits were similar in their age (mean (SD) age 14.0 (2.9) and 13.1 (3.6) years respectively) and gender identity: the majority (73.7% (n = 174) and 70.5% (n = 198) respectively) identified in a binary way. Higher rates of social transition (specifically, changing pronouns) were noted in those with autistic traits (Difference in proportion 11.7, 95% confidence interval [CI] 2.4-21.1, p = 0.014). GD was high in both groups with ∼95% displaying clinically relevant levels of GD. Chest dysphoria was similar between groups, while voice dysphoria was higher in those with autistic traits (standardised mean difference [SMD] = 0.3, 95% confidence interval [CI]: 0.1-0.5 p = 0.00087). Dissatisfaction with secondary gendered characteristics (SMD = 0.3, CI: 0.1-0.5 p = 0.0011) and hormonally unresponsive body characteristics (SMD = 0.2, CI: 0.1-0.4 p = 0.016) was higher in trans young people with autistic traits. Interpretation: The similarly high severity of GD in those with and without autistic traits reinforces the importance of trans young people with and without autistic traits being availed the same opportunities to access gender-affirming care. Subtle differences identified between the groups in other areas of gender diversity suggest trans young people with autistic traits may have distinct needs and that gender-affirming care may need to be tailored accordingly. Funding: The Royal Children's Hospital Foundation, Hugh D.T. Williamson Foundation; Australian National Health and Medical Research Council-Clinical Trials and Cohort Studies scheme (GNT 2006529).

The clinical profile of patients attending a large, Australian pediatric gender service: A 10-year review.

Objectives: To better understand the clinical profile of patients attending a large Australian pediatric gender service. Retrospective clinical audit of patients seen at the Royal Children's Hospital Gender Service (RCHGS) over 10 years (2007-16). Setting: The RCHGS: Australia's largest pediatric gender service. Participants: Patients were eligible for inclusion if they had an appointment with the RCHGS between January 2007 - December 2016, and had either a self-reported gender which differed from what was presumed for them at birth or sought guidance regarding gender identity/expression. Main outcome measures: Demographic/developmental history, clinical presentation including information about gender identity/dysphoria, comorbidities, self-harm, suicidal ideation, gender-affirming treatment, psychosocial functioning. Results: 359 patients were first seen during the study period. Assigned females (54%) slightly outnumbered assigned males (46%), and presented at an older age (14.8 vs 12.4 years. Patients predominantly identified as transgender (87.2%) or non-binary (7.2%). Across the cohort, gender diversity was evident from a young age (median age 3), and symptoms of gender dysphoria were noted earlier in assigned males (median age 4) than assigned females (median age 11). Although 81% of patients met eligibility for GD, rates of hormonal treatment were much lower, with 29% of young people ≥10 years of age receiving puberty blocking treatment and 38% of adolescents ≥ 16 years of age receiving gender-affirming hormones (i.e. testosterone or estrogen). Many patients had mental health difficulties and/or neurodevelopment disorders, including major depressive disorder/low mood (51%), self-harm (25%), suicidal ideation (30%) and autism spectrum disorder (16%). Conclusion: This audit illustrates the complex profile and needs of transgender and gender diverse children and adolescents presenting to specialist gender services. Supplemental data for this article is available online at https://doi.org/10.1080/26895269.2021.1939221 .

Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.

Delineating the autistic phenotype in children with neurofibromatosis type 1.

BACKGROUND: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. METHODS: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. RESULTS: The study cohort comprised 68 children (3-15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. LIMITATIONS: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. CONCLUSIONS: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management.

Culture-proven Aspergillus fumigatus infection in a primary hydroxyapatite orbital implant.

Hydroxyapatite orbital implants are widely used in enucleation surgery. Infection in this setting is an uncommon but severe complication. Herein a patient with a 3-year history of chronic socket discharge, orbital discomfort, conjunctival breakdown and implant exposure after enucleation and implantation of a hydroxyapatite sphere 7 years previously is reported. Repeated attempts at covering the exposed implant failed. Eventually the implant was removed, and Aspergillus fumigatus was cultured from the explanted material. This is the second reported case of Aspergillus infection of a hydroxyapatite orbital implant, and the first case where fungal cultures were positive.