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A brain structural connectivity biomarker for autism spectrum disorder diagnosis in early childhood

Psychoradiology. 2023 Apr 20;3:kkad005. doi: 10.1093/psyrad/kkad005. eCollection 2023.

ABSTRACT

BACKGROUND: Autism spectrum disorder (ASD) is associated with altered brain development, but it is unclear which specific structural changes may serve as potential diagnostic markers, particularly in young children at the age when symptoms become fully established. Furthermore, such brain markers need to meet the requirements of precision medicine and be accurate in aiding diagnosis at an individual rather than only a group level.

OBJECTIVE: This study aimed to identify and model brain-wide differences in structural connectivity using diffusion tensor imaging (DTI) in young ASD and typically developing (TD) children.

METHODS: A discovery cohort including 93 ASD and 26 TD children and two independent validation cohorts including 12 ASD and 9 TD children from three different cities in China were included. Brain-wide (294 regions) structural connectivity was measured using DTI (fractional anisotropy, FA) together with symptom severity and cognitive development. A connection matrix was constructed for each child for comparisons between ASD and TD groups. Pattern classification was performed on the discovery dataset and the resulting model was tested on the two independent validation datasets.

RESULTS: Thirty-three structural connections showed increased FA in ASD compared to TD children and associated with both autistic symptom severity and impaired general cognitive development. The majority (29/33) involved the frontal lobe and comprised five different networks with functional relevance to default mode, motor control, social recognition, language and reward. Overall, classification achieved very high accuracy of 96.77% in the discovery dataset, and 91.67% and 88.89% in the two independent validation datasets.

CONCLUSIONS: Identified structural connectivity differences primarily involving the frontal cortex can very accurately distinguish novel individual ASD from TD children and may therefore represent a robust early brain biomarker which can address the requirements of precision medicine.

PMID:38666122 | PMC:PMC11003421 | DOI:10.1093/psyrad/kkad005

Connectome-based prediction of the severity of autism spectrum disorder

Psychoradiology. 2023 Nov 27;3:kkad027. doi: 10.1093/psyrad/kkad027. eCollection 2023.

ABSTRACT

BACKGROUND: Autism spectrum disorder (ASD) is characterized by social and behavioural deficits. Current diagnosis relies on behavioural criteria, but machine learning, particularly connectome-based predictive modelling (CPM), offers the potential to uncover neural biomarkers for ASD.

OBJECTIVE: This study aims to predict the severity of ASD traits using CPM and explores differences among ASD subtypes, seeking to enhance diagnosis and understanding of ASD.

METHODS: Resting-state functional magnetic resonance imaging data from 151 ASD patients were used in the model. CPM with leave-one-out cross-validation was conducted to identify intrinsic neural networks that predict Autism Diagnostic Observation Schedule (ADOS) scores. After the model was constructed, it was applied to independent samples to test its replicability (172 ASD patients) and specificity (36 healthy control participants). Furthermore, we examined the predictive model across different aspects of ASD and in subtypes of ASD to understand the potential mechanisms underlying the results.

RESULTS: The CPM successfully identified negative networks that significantly predicted ADOS total scores [r (df = 150) = 0.19, P = 0.008 in all patients; r (df = 104) = 0.20, P = 0.040 in classic autism] and communication scores [r (df = 150) = 0.22, P = 0.010 in all patients; r (df = 104) = 0.21, P = 0.020 in classic autism]. These results were reproducible across independent databases. The networks were characterized by enhanced inter- and intranetwork connectivity associated with the occipital network (OCC), and the sensorimotor network (SMN) also played important roles.

CONCLUSIONS: A CPM based on whole-brain resting-state functional connectivity can predicted the severity of ASD. Large-scale networks, including the OCC and SMN, played important roles in the predictive model. These findings may provide new directions for the diagnosis and intervention of ASD, and maybe could be the targets in novel interventions.

PMID:38666105 | PMC:PMC10917386 | DOI:10.1093/psyrad/kkad027

Undiagnosed Autism Spectrum Disorder in a Child With Chronic Pain: A Case Report

Cureus. 2024 Mar 26;16(3):e56946. doi: 10.7759/cureus.56946. eCollection 2024 Mar.

ABSTRACT

The literature acknowledges the presence of psychiatric comorbidities in pediatric chronic pain populations. Few studies have focused on comorbidity with autism spectrum disorders. We describe the case of a 10-year-old patient at the onset of his care by the chronic pain team. This boy had been experiencing refractory multifocal chronic pain for three years and had undergone multiple medical examinations that had not identified the cause of the pain or provided sufficient pain relief. During our consultations, the behavioral peculiarities (averted gaze, inhibition), the atypical description of this boy's pain (pain in the hair), and sensory peculiarities (intolerance to noise) led us to suspect an autism spectrum disorder. A multidisciplinary approach, including a thorough developmental history and evaluation by an autism resource center, confirmed this suspicion. The diagnosis of an underlying autism spectrum disorder allowed us to guide our management by integrating the specific sensory aspects of this boy. Concurrently, we facilitated the family's better understanding of the young boy's issues and addressed his social and communication difficulties. Through multidisciplinary care and the integration of these various aspects, our patient's clinical situation improved. Multidisciplinary management is essential in chronic pain teams.

PMID:38665751 | PMC:PMC11044078 | DOI:10.7759/cureus.56946

Navigating Multiple Challenges: Malnutrition and Nephrotoxic Drug Effects in a Non-verbal Child With Autism Spectrum Disorder Requiring Dialysis

Cureus. 2024 Mar 26;16(3):e56951. doi: 10.7759/cureus.56951. eCollection 2024 Mar.

ABSTRACT

Acute kidney injury (AKI) is a common medication adverse event, particularly in patients with pre-existing medical conditions taking nephrotoxic medications. However, little is known about the differences in the risk of nephrotoxic medication-related complications in children with autism spectrum disorder (ASD) compared to the general pediatric population. A nine-year-old non-verbal boy with ASD was hospitalized for scrotal cellulitis requiring vancomycin and piperacillin/tazobactam due to a lack of clinical response to cephalosporins. His history is significant for being an extremely selective eater, and his appetite decreased over four months prior to presentation. Poorly controlled scrotal pain, despite acetaminophen use, was suspected based on his facial expressions and maternal assessment, especially considering his non-verbal status. Consequently, a non-steroidal anti-inflammatory drug was initiated. The hospital course was complicated by the development of a scrotal abscess, minimal enteral intake, hypoalbuminemia-induced intravascular dehydration, oliguria, and generalized edema. His creatinine increased to 5.11 mg/dL from 0.51 mg/dL despite early discontinuation of nephrotoxic medications and fluid resuscitation, which led to hemodialysis due to worsening AKI. Subsequently, urinary output and edema improved. Creatinine improved to <1 mg/dL with careful creatinine monitoring and concomitant furosemide and albumin infusion in the pediatric intensive care unit. Children with comorbidities, such as malnutrition, who require nephrotoxic medications, need extra attention. Implementing clinical decision support tools or quality improvement programs can promote the prevention of nephrotoxic medication exposure and decrease the incidence of AKI. An alert within an electronic health record system for multiple nephrotoxic drugs and daily multidisciplinary huddles during patient-centered rounds could help reduce and eliminate adverse events. In particular, for non-verbal patients or those with limited communication skills, such as children with ASD, rigorous and close monitoring of vital signs, physical condition, pain, medication intake, and lab results, in addition to a nephrotoxic medication screening and notification system, should be key to optimizing patient care.

PMID:38665731 | PMC:PMC11044742 | DOI:10.7759/cureus.56951

Mapping brain functional and structural abnormities in autism spectrum disorder: moving toward precision treatment

Psychoradiology. 2022 Nov 9;2(3):78-85. doi: 10.1093/psyrad/kkac013. eCollection 2022 Sep.

ABSTRACT

Autism spectrum disorder (ASD) is a formidable challenge for psychiatry and neuroscience because of its high prevalence, lifelong nature, complexity, and substantial heterogeneity. A major goal of neuroimaging studies of ASD is to understand the neurobiological underpinnings of this disorder from multi-dimensional and multi-level perspectives, by investigating how brain anatomy, function, and connectivity are altered in ASD, and how they vary across the population. However, ongoing debate exists within those studies, and neuroimaging findings in ASD are often contradictory. Over the past decade, we have dedicated to delineate a comprehensive and consistent mapping of the abnormal structure and function of the autistic brain, and this review synthesizes the findings across our studies reaching a consensus that the "social brain" are the most affected regions in the autistic brain at different levels and modalities. We suggest that the social brain network can serve as a plausible biomarker and potential target for effective intervention in individuals with ASD.

PMID:38665600 | PMC:PMC10917159 | DOI:10.1093/psyrad/kkac013

Neuroimmune mechanisms in autism etiology - untangling a complex problem using human cellular models

Oxf Open Neurosci. 2024 Feb 22;3:kvae003. doi: 10.1093/oons/kvae003. eCollection 2024.

ABSTRACT

Autism spectrum disorder (ASD) affects 1 in 36 people and is more often diagnosed in males than in females. Core features of ASD are impaired social interactions, repetitive behaviors and deficits in verbal communication. ASD is a highly heterogeneous and heritable disorder, yet its underlying genetic causes account only for up to 80% of the cases. Hence, a subset of ASD cases could be influenced by environmental risk factors. Maternal immune activation (MIA) is a response to inflammation during pregnancy, which can lead to increased inflammatory signals to the fetus. Inflammatory signals can cross the placenta and blood brain barriers affecting fetal brain development. Epidemiological and animal studies suggest that MIA could contribute to ASD etiology. However, human mechanistic studies have been hindered by a lack of experimental systems that could replicate the impact of MIA during fetal development. Therefore, mechanisms altered by inflammation during human pre-natal brain development, and that could underlie ASD pathogenesis have been largely understudied. The advent of human cellular models with induced pluripotent stem cell (iPSC) and organoid technology is closing this gap in knowledge by providing both access to molecular manipulations and culturing capability of tissue that would be otherwise inaccessible. We present an overview of multiple levels of evidence from clinical, epidemiological, and cellular studies that provide a potential link between higher ASD risk and inflammation. More importantly, we discuss how stem cell-derived models may constitute an ideal experimental system to mechanistically interrogate the effect of inflammation during the early stages of brain development.

PMID:38665176 | PMC:PMC11044813 | DOI:10.1093/oons/kvae003

Preoperative Multisensory Room Use in Pediatric Patients With Autism: A Randomized Clinical Trial

Pediatr Dent. 2024 Mar 15;46(2):91-98.

ABSTRACT

Purpose: To evaluate the impact of multisensory room (MSR) use on preoperative anxiety and postoperative outcomes in children with autism spectrum disorder (ASD) undergoing dental treatment with general anesthesia. Methods: Forty children, ages six to 17 years, with ASD re- quiring general anesthesia for dental treatment, participated in this study. Participants were randomized to either the control group (standard pre- operative waiting room) or intervention group (MSR) for 20 minutes prior to general anesthesia induction. Pre- and post-intervention preoperative anxiety were measured. Following surgery, postoperative emergence delirium was assessed. Short- and long-term postoperative pain and adverse behavioral effects were evaluated six hours, 24 hours, one week, and one month post-surgery. Data analysis employed repeated measures analysis of variance with two groups and either two or four time periods. Results: The sample was predominantly male (62.5 percent) and identified as either White or Black (53 percent) and non-Hispanic (60 percent). Preoperative behavioral anxiety levels increased post-intervention in the control group (P<0.05) and decreased in the MSR group (P<0.001). Following surgery, pain intensity was greater in the control group compared to the MSR group at six hours (P<0.05) and 24 hours (P<0.01), and similar at one and four weeks. Pre- and post-intervention measures of preoperative heart rate, postoperative emergence delirium, and behavioral effects were similar between groups and over time. Conclusion: These findings suggest a novel, nonpharmacologic technique that can be utilized by various health care specialties to reduce preoperative anxiety and improve post- operative outcomes in children with autism spectrum disorder.

PMID:38664910

Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/intellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings

Mol Biol Rep. 2024 Apr 25;51(1):577. doi: 10.1007/s11033-024-09545-y.

ABSTRACT

BACKGROUND: Chromosomal microarray analysis is an essential tool for copy number variants detection in patients with unexplained developmental delay/intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The study aims to determine the clinical significance of chromosomal microarray analysis in this patient group. Another crucial aspect is the evaluation of copy number variants detected in terms of the diagnosis of patients.

METHODS AND RESULTS: A Chromosomal microarray analysis was was conducted on a total of 1227 patients and phenotype-associated etiological diagnosis was established in 135 patients. Phenotype-associated copy number variants were detected in 11% of patients. Among these, 77 patients 77 (57%, 77/135) were diagnosed with well-recognized genetic syndromes and phenotype-associated copy number variants were found in 58 patients (42.9%, 58/135). The study was designed to collect data of patients in Kocaeli Derince Training and Research Hospital retrospectively. In our study, we examined 135 cases with clinically significant copy number variability among all patients.

CONCLUSIONS: In this study, chromosomal microarray analysis revealed pathogenic de novo copy number variants with new clinical features. Chromosomal microarray analysis in the Turkish population has been reported in the largest patient cohort to date.

PMID:38664339 | DOI:10.1007/s11033-024-09545-y

Preparing to "Live a Life of Possibilities": Experiences of Healthcare Providers Readying Autistic Adolescents and Their Families for Independent Driving

J Autism Dev Disord. 2024 Apr 25. doi: 10.1007/s10803-024-06335-0. Online ahead of print.

ABSTRACT

Autistic adolescents and their families may experience barriers to transportation, including independent driving, which is critical to supporting quality of life and engagement in social, educational, and employment opportunities. Healthcare providers may feel unprepared to provide guidance to autistic adolescents, although they are among the professionals families turn to for guidance. This study describes providers' experiences supporting autistic adolescents and families in the decision to pursue licensure and identifies barriers experienced in providing support. We conducted interviews with 15 healthcare providers focused on how they support autistic adolescents and their families in navigating topics related to independence, driving, and transportation. Key themes identified included: importance of understanding adolescents' perspectives and motivations, approaches to readying caregivers for children to pursue driving, and role of providers in fostering agreement between adolescents and caregivers. Results reflect healthcare providers as intermediaries between autistic adolescents and caregivers making the decision to pursue licensure and bring families to consensus. Our findings emphasize the importance of healthcare providers, in collaboration with community-based providers, in supporting autistic adolescents and their families considering licensure. Improving conversations between providers and families provides opportunity to better support quality of life among autistic adolescents and their caregivers navigating the transition to independence.

PMID:38664276 | DOI:10.1007/s10803-024-06335-0

Depressive symptoms and activity engagement in autistic adolescents and those with other developmental disabilities

Disabil Health J. 2024 Apr 17:101633. doi: 10.1016/j.dhjo.2024.101633. Online ahead of print.

ABSTRACT

BACKGROUND: Autistic adults and those with other developmental disabilities (DD) have increased depressive symptoms and decreased activity engagement when compared to those with no DD. Few studies explore activities related to depressive symptoms in autistic people and those with other DD during adolescence.

OBJECTIVE: The objectives of this analysis were to describe depressive symptoms and activity engagement among autistic adolescents and those with other DD and no DD and explore types of activities associated with depressive symptoms, stratified by study group.

METHODS: Parents of adolescents completed a multi-site case-control study of autism and other DD when their child was 2-5 years of age and a follow-up survey when their child was 12-16 years of age. Questions asked about the adolescent's current diagnoses, depressive symptoms (i.e., diagnosis, medication use, or symptoms), and engagement in club, social, sport, vocational, volunteer, and other organized activities.

RESULTS: Autistic adolescents (N = 238) and those with other DD (N = 222) were significantly more likely to have depressive symptoms than adolescents with no DD (N = 406), (31.9 %, 30.6 %, and 15.0 % respectively). Lower percentages of autistic adolescents participated in activities than peers with other DD, who had lower percentages than peers with no DD. Participation in sports was associated with lower likelihood of depressive symptoms in all groups.

CONCLUSIONS: Autistic adolescents and those with other DD are at increased risk for depressive symptoms and reduced activity engagement. Participation in sports may be especially important for adolescent mental health regardless of disability status. Implications for public health education and intervention are discussed.

PMID:38664150 | DOI:10.1016/j.dhjo.2024.101633

Gender and Autism Program: A novel clinical service model for gender-diverse/transgender autistic youth and young adults

Clin Neuropsychol. 2024 Apr 25:1-37. doi: 10.1080/13854046.2024.2318155. Online ahead of print.

ABSTRACT

Objective: Situated in Children's National Hospital (CNH)'s Neuropsychology Division, the Gender and Autism Program (GAP) is the first clinical service dedicated to the needs of autistic gender-diverse/transgender youth. This study describes GAP clinical assessment profiles and presents a multi-perspective programmatic review of GAP evaluation services. Method: Seventy-five consecutive gender- and neuropsychologically-informed GAP evaluations were analyzed, including demographics, gender and autism characterization, and primary domains evaluated. Three program-based Delphi studies were conducted and identify: clinician priorities and challenges in providing care, program administrator lessons learned and ongoing barriers, and considerations adapting this model for a rural academic medical center. Results: Nearly two-thirds of referrals were transfeminine. Most youth had existing autism diagnoses; of those undiagnosed, three-quarters were found to be autistic. Five goals of evaluations were identified: Mental health was always assessed, and most evaluations also assessed gender-related needs in the context of autism neurodiversity. Neuropsychological characterization of strengths and challenges informed personalized accommodations to support youth gender-related self-advocacy. Clinicians emphasized frequent youth safety concerns. Administrators emphasized the need for specialized training for working with families. Components for adaptation of the GAP in a rural academic medical center were identified. Conclusions: Since its founding, the GAP has proven a sustainable neuropsychology-based service with consistent referral flow and insurance authorizations. Capturing staff perspectives through rigorous Delphi methods, and addressing the GAP's feasibility and replicability, this study provides a road map for replicating this service. We also highlight GAP training of specialist clinicians, fundamental to addressing the desperate shortage of providers in this field.

PMID:38664066 | DOI:10.1080/13854046.2024.2318155

Allegorical Investigations: Autism, Applied Behavioral Analysis, and Medieval Poetry

Lit Med. 2023;41(1):63-92. doi: 10.1353/lm.2023.a911445.

ABSTRACT

This essay explores the connections between the modern autism intervention Applied Behavioral Analysis (ABA) and medieval personification allegory to show how literature powerfully enables the work of neurodiversity. Invoking the theory of the language game to investigate the clinical history of ABA, the essay puts the fourteenth-century poet William Langland in dialogue with Ludwig Wittgenstein and Stanley Cavell. I argue that the approach to language emerging from this constellation of voices works as a precise tool for diagnosing the ethical liabilities of ABA. By highlighting the shared interest in a set of animated terms across different historical and disciplinary domains, we can see how allegorical writing becomes an essential resource for exposing how ABA travesties human need and emotion. Working against the ethos of this "therapeutic" intervention, Langland, Wittgenstein, and Cavell join with autistic writers in advancing a model of language development based on mutuality, reciprocity, and shared forms of life.

PMID:38662034 | DOI:10.1353/lm.2023.a911445

Precision synbiotics increase gut microbiome diversity and improve gastrointestinal symptoms in a pilot open-label study for autism spectrum disorder

mSystems. 2024 Apr 25:e0050324. doi: 10.1128/msystems.00503-24. Online ahead of print.

ABSTRACT

The efficacy of prebiotics and probiotics (synbiotics when combined) to improve symptoms associated with autism spectrum disorder (ASD) has shown considerable inter-study variation, likely due to the complex, heterogeneous nature of the disorder and its associated behavioral, developmental, and gastrointestinal symptoms. Here, we present a precision synbiotic supplementation study in 296 children and adults diagnosed with ASD versus 123 age-matched neurotypical controls. One hundred seventy ASD participants completed the study. Baseline and post-synbiotic assessment of ASD and gastrointestinal (GI) symptoms and deep metagenomic sequencing were performed. Within the ASD cohort, there were significant differences in microbes between subpopulations based on the social responsiveness scale (SRS2) survey (Prevotella spp., Bacteroides, Fusicatenibacter, and others) and gluten and dairy-free diets (Bifidobacterium spp., Lactococcus, Streptococcus spp., and others). At the baseline, the ASD cohort maintained a lower taxonomic alpha diversity and significant differences in taxonomic composition, metabolic pathways, and gene families, with a greater proportion of potential pathogens, including Shigella, Klebsiella, and Clostridium, and lower proportions of beneficial microbes, including Faecalibacterium compared to controls. Following the 3-month synbiotic supplementation, the ASD cohort showed increased taxonomic alpha diversity, shifts in taxonomy and metabolic pathway potential, and improvements in some ASD-related symptoms, including a significant reduction in GI discomfort and overall improved language, comprehension, cognition, thinking, and speech. However, the open-label study design may include some placebo effects. In summary, we found that precision synbiotics modulated the gut microbiome and could be used as supplementation to improve gastrointestinal and ASD-related symptoms.

IMPORTANCE: Autism spectrum disorder (ASD) is prevalent in 1 out of 36 children in the United States and contributes to health, financial, and psychological burdens. Attempts to identify a gut microbiome signature of ASD have produced varied results. The limited pre-clinical and clinical population sizes have hampered the success of these trials. To understand the microbiome associated with ASD, we employed whole metagenomic shotgun sequencing to classify microbial composition and genetic functional potential. Despite being one of the most extensive ASD post-synbiotic assessment studies, the results highlight the complexity of performing such a case-control supplementation study in this population and the potential for a future therapeutic approach in ASD.

PMID:38661344 | DOI:10.1128/msystems.00503-24

Reliability and validity of the Japanese version of the camouflaging autistic traits questionnaire

Autism Res. 2024 Apr 25. doi: 10.1002/aur.3137. Online ahead of print.

ABSTRACT

This study investigated the factor structure and determined the reliability and validity of the Camouflaging Autistic Traits Questionnaire-Japanese version (CAT-Q-J) among 204 autistic and 410 non-autistic people. Since a confirmatory factor analysis revealed no factor validity of the CAT-Q-J for both autistic and non-autistic adults, an exploratory factor analysis was conducted to ensure the psychometric properties matched those of the original scale as much as possible. The results showed the CAT-Q-J comprised three subscales, a four-item compensation subscale, a five-item masking scale, and a five-item assimilation subscale. The overall CAT-Q-J and all three subscales showed sufficient internal consistency and moderate-to-good and stable test-retest reliability in both the autistic and non-autistic samples. Convergent validity was also supported by the correlations found with measures of autistic traits, well-being, anxiety, and depression. Different from the original CAT-Q, compensation/masking for the autistic sample was not correlated with mental health or autistic traits. The reliability and the validity of the overall CAT-Q-J were confirmed; however, caution should be exercised when interpreting its subscales.

PMID:38661257 | DOI:10.1002/aur.3137

Differences in audiovisual temporal processing in autistic adults are specific to simultaneity judgments

Autism Res. 2024 Apr 25. doi: 10.1002/aur.3134. Online ahead of print.

ABSTRACT

Research has shown that children on the autism spectrum and adults with high levels of autistic traits are less sensitive to audiovisual asynchrony compared to their neurotypical peers. However, this evidence has been limited to simultaneity judgments (SJ) which require participants to consider the timing of two cues together. Given evidence of partly divergent perceptual and neural mechanisms involved in making temporal order judgments (TOJ) and SJ, and given that SJ require a more global type of processing which may be impaired in autistic individuals, here we ask whether the observed differences in audiovisual temporal processing are task and stimulus specific. We examined the ability to detect audiovisual asynchrony in a group of 26 autistic adult males and a group of age and IQ-matched neurotypical males. Participants were presented with beep-flash, point-light drumming, and face-voice displays with varying degrees of asynchrony and asked to make SJ and TOJ. The results indicated that autistic participants were less able to detect audiovisual asynchrony compared to the control group, but this effect was specific to SJ and more complex social stimuli (e.g., face-voice) with stronger semantic correspondence between the cues, requiring a more global type of processing. This indicates that audiovisual temporal processing is not generally different in autistic individuals and that a similar level of performance could be achieved by using a more local type of processing, thus informing multisensory integration theory as well as multisensory training aimed to aid perceptual abilities in this population.

PMID:38661256 | DOI:10.1002/aur.3134

Research methods at the intersection of gender diversity and autism: A scoping review

Autism. 2024 Apr 25:13623613241245595. doi: 10.1177/13623613241245595. Online ahead of print.

ABSTRACT

Research has increasingly focused on the intersection between gender diversity and autism. To better understand this literature, this scoping review systematically searched five databases for peer-reviewed literature on gender diversity and autism published between 2018 and 2023. Included studies (N = 84) were of English language, featured original qualitative or quantitative findings, and examined a psychosocial connection between autism and gender spectra variables. Most studies focused on measuring prevalence of autism among gender-diverse individuals. While the overall study rigor was acceptable, weaknesses in measurement, sample selection, and definition of key terms were noted. Promisingly, studies in this area appear to be shifting away from a pathologizing lens and towards research methods that engage in meaningful collaboration with the autistic, gender-diverse community to investigate how to best enhance the quality of life and wellbeing of this population.

PMID:38661070 | DOI:10.1177/13623613241245595

Gender diversity in autistic and neurotypical youth over adolescence and puberty: A longitudinal study

Autism Res. 2024 Apr 25. doi: 10.1002/aur.3141. Online ahead of print.

ABSTRACT

Recent research in autism spectrum disorder (ASD) has suggested a higher prevalence of gender diversity in individuals diagnosed with ASD. Adolescence is a critical period for the consolidation of gender identity, yet the extent to which the experience of gender diversity is stable over adolescence and puberty in autistic youth is poorly understood. The aim of the study was to examine the consistency of gender diversity using the gender diversity screening questionnaire for self- and parent-report of youth (GDSQ-S, GDSQ-P) over a four-year longitudinal study of pubertal development in youth with ASD (N = 140, 36 assigned-female-at birth (AFAB)) and typical development (TD, N = 104, 58 assigned-male-at-birth [AMAB]) and their parents. The extent to which diagnosis (ASD vs. TD), assigned sex (AFAB vs. AMAB) and developmental level (age, puberty) predict GDSQ trajectory over time was explored. There was a significant diagnosis by sex-assigned-at-birth by age interaction for GDSQ-S Gender Diversity, p = 0.002, showing higher scores in autistic AFAB youth over adolescence, and TD AFAB showing initially lower, then increasing levels over adolescence. For GDSQ-P, Gender Incongruence was significantly different between the groups, p = 0.032, showing higher incongruence for autistic AFAB around age 10, decreasing between age 12-14 before increasing again, while TD AFAB evidence the inverse trend. AMAB trends were stable. The significant diagnostic, developmental and sex-based differences indicate AFAB youth experience greater gender diversity that evolves over development. Findings suggest gender identity formation is nuanced and may be influenced by pubertal progression, hormonal patterns, and psychosocial factors. Results underscore the need for enhanced understanding of the unique, dynamic profiles of females-assigned-at-birth.

PMID:38661056 | DOI:10.1002/aur.3141

Measuring and validating autistic burnout

Autism Res. 2024 Apr 25. doi: 10.1002/aur.3129. Online ahead of print.

ABSTRACT

Researchers have begun to explore the characteristics and risk factors for autistic burnout, but assessment tools are lacking. Our study comprehensively examined and compared the psychometric properties of the unpublished 27-item AASPIRE Autistic Burnout Measure (ABM), and personal and work scales of the Copenhagen Burnout Inventory (CBI) to evaluate their efficacy as screening measures for autistic burnout, with a group of 238 autistic adults. Exploratory factor analyses (EFA) revealed a 4-factor structure for the ABM and a 2-factor structure for the CBI personal scale (CBI-P). Factorial validity and dimensionality were examined with four exploratory models which indicated a unidimensional structure for the ABM with an overarching 'Autistic Burnout' construct, and multidimensional CBI-P structure comprising two subscales and overarching 'Personal Burnout' construct. Other reliability and validity indicators included Spearman correlations, analysis of variance, receiver operating characteristics, sensitivity, specificity, and intra-class correlations (ICC). The ABM and CBI-P were strongly correlated with depression, anxiety, stress, and fatigue. Unexpectedly, correlations between the burnout measures and camouflaging, and wellbeing measures were moderate. Potential overlap between burnout and depression and fatigue was examined through EFA, which supported convergent validity of the ABM and depression measure, while correlations and ICC analyses revealed mixed results. We concluded that the ABM and the CBI-P Emotional Exhaustion subscale were valid preliminary screening tools for autistic burnout. Testing with larger and more diverse autistic samples is required to further examine the psychometric properties of the ABM, and to understand the relationships between autistic burnout and depression, and masking.

PMID:38660943 | DOI:10.1002/aur.3129

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