Autistic Population Research Articles

Autism and chronic ill health: an observational study of symptoms and diagnoses of central sensitivity syndromes in autistic adults

BackgroundAutistic adults, particularly women, are more likely to experience chronic ill health than the general population. Central sensitivity syndromes (CSS) are a group of related conditions that are thought to include an underlying sensitisation of the central nervous system; heightened sensory sensitivity is a common feature. Anecdotal evidence suggests autistic adults may be more prone to developing a CSS. This study aimed to investigate the occurrence of CSS diagnoses and symptoms in autistic adults, and to explore whether CSS symptoms were related to autistic traits, mental health, sensory sensitivity, or gender.MethodsThe full sample of participants included 973 autistic adults (410 men, 563 women, mean age = 44.6) registered at the Netherlands Autism Register, who completed questionnaires assessing autistic traits, sensory sensitivity, CSS, physical and mental health symptoms. The reliability and validity of the Central Sensitization Inventory (CSI) in an autistic sample was established using exploratory and confirmatory factor analyses. Chi2 analyses, independent t-tests, hierarchical regression and path analysis were used to analyse relationships between CSS symptoms, autistic traits, measures of mental health and wellbeing, sensory sensitivity, age and gender.Results21% of participants reported one or more CSS diagnosis, and 60% scored at or above the clinical cut-off for a CSS. Autistic women were more likely to report a CSS diagnosis and experienced more CSS symptoms than men. Sensory sensitivity, anxiety, age and gender were significant predictors of CSS symptoms, with sensory sensitivity and anxiety fully mediating the relationship between autistic traits and CSS symptoms.LimitationsAlthough this study included a large sample of autistic adults, we did not have a control group or a CSS only group. We also could not include a non-binary group due to lack of statistical power.ConclusionsCSS diagnoses and symptoms appear to be very common in the autistic population. Increased awareness of an association between autism and central sensitisation should inform clinicians and guide diagnostic practice, particularly for women where CSS are common and autism under recognised.

Assessing and Managing Suicide Risk in Autistic Youth: Findings from a Clinician Survey in a Pediatric Psychiatric Emergency Setting.

Suicidal thoughts and behaviors (STB) and emergency department (ED) utilization are prevalent in autistic youth. The current study surveyed clinicians in a pediatric psychiatric ED to examine differences in attitudes on suicide-related care for autistic and non-autistic patient populations. While clinicians rated addressing STB in ASD as important and adaptations to care as necessary, less than half identified ASD as a suicide risk factor and confidence ratings were significantly lower for autistic patients. Previous ASD training predicted confidence and accounted for approximately 25% of the variance in confidence scores. Findings highlight the urgency to develop and disseminate ED clinician training, and address the lack of validated assessment tools, adapted suicide prevention practices, and evidence-based treatments for STB in autistic youth.

Acceptance of Telehealth Therapy to Replace In-Person Therapy for Autism Treatment During COVID-19 Pandemic: An Assessment of Patient Variables.

Importance: Children with autism achieve improved behavioral outcomes with applied behavior analytic (ABA) interventions. Typically, ABA is delivered in a participant's home or in a clinic setting. At the onset of COVID-19, treatment in these environments was not available due to health exposure concerns. A large social service organization in California rapidly pivoted to the delivery of ABA intervention through telehealth. Access disparity for telehealth has been a historical concern in health care delivery, particularly for disenfranchised populations within the autistic participant population. Objective: This study evaluated the demographic and behavioral variables associated with the acceptance or declination of telehealth by the pediatric participants' caregivers at the onset of the pandemic. Design, Setting, Participants: A non-experimental design was used, and archival data were compared for a random sample of 100 participants with autism who accepted telehealth interventions with 100 participants who declined it. Main Outcomes and Measures: Socioeconomic data, gender, age, ethnicity, language, and household size were compared. Clinical data were compared for treatment dosage, standardized Vineland Adaptive Behavior Scales scores, and Verbal Behavior Milestones Assessment and Placement Program scores. Results: None of the demographic variables were statistically significant in a participant's acceptance or declination of telehealth, but there were moderate differences in treatment dosage across the groups. Conclusions: It is concerning that a large portion of participants initially declined intervention via telehealth, resulting in these participants experiencing a gap in intervention during the pandemic. As intervention is imperative for pediatric autism participants, it is untenable that ∼40% of the population initially declined telehealth at the start of the pandemic.

Alexithymic and autistic traits in children and adolescents: A systematic review of the current state of knowledge.

In this study, we aim to explore the ability of autistic children to process emotions and respond to a range of feelings in relation to a triad of difficulties known as alexithymia, namely children's difficulties to recognize, describe, and distinguish emotions. Alexithymia is common in autistic adults but we know very little about children. To understand this condition better, within a large group of studies, first we study the extent to which alexithymia difficulties are present in autistic children. In reviewing the literature, we also present the assessment measures implemented in each study, their limitations, and potential effects on our understanding of findings. This knowledge will help us understand the extent to which alexithymia is present in autistic children and how it may be related to their emotional difficulties. Also, it will allow us to further detect challenges early on in children's lives so that we recommend interventions that teach autistic children how to recognize, describe, and distinguish emotions in themselves and in others. Such interventions may include family members of autistic children to assist interactions with their child. Supporting children from an early age will help them develop skills that will ready them for school and life and it will enhance their ability to build supportive relationships and meet their fullest potential.

Exploring potential sources of childhood trauma: A qualitative study with autistic adults and caregivers.

The stressors autistic individuals encounter and experience as traumatic may vary from non-autistics. We conducted a qualitative study to identify potential sources of trauma for autistic individuals and evaluate correspondence with a standard measure. We enrolled autistic adults (N = 14) and caregivers (N= 15) with varied adversities, levels of functioning, and socio-demographics. Participants completed standard measures of autism, traumatic exposures and stress, and qualitative interviews, which were submitted to thematic analysis. A wide range of experiences were described as traumatic. Whereas some reflected traditional traumas (e.g. maltreatment) and forms of social marginalization, others reflected conflicts between autistic characteristics and the environment (e.g. sensory trauma). All adults and caregivers described sources of trauma in interviews not captured by standardized measures. Varied stressful experiences, many not detected by a standardized measure, may have a traumatic effect on autistic individuals. Whereas some reflect commonly recognized trauma sources, others may reflect particular vulnerabilities for autistic individuals. Results have implications for assessing traumatic events and understanding their contribution to mental health inequities in the autistic population.Lay abstractThe stressors autistic individuals encounter and experience as traumatic may vary from those not on the spectrum and typically measured. We conducted in-depth interviews with autistic adults and caregivers of children and adults on the spectrum to identify potential sources of trauma for autistic individuals and evaluate the ability of a standard trauma measure to capture those experiences. Fourteen autistic adults and 15 caregivers with varied backgrounds, clinical profiles, and histories of adversity were interviewed. Participants also completed standard measures of autism, traumatic exposures, and stress. Interviews were analyzed to record both traditional sources of trauma, for comparison with the standard measure, and distinct sources, described as traumatic only in the narratives of participants. Participants described varied experiences as traumatic. Whereas some reflected traditional traumas (e.g. maltreatment) and forms of social marginalization, others reflected conflicts between autistic characteristics and the environment (e.g. sensory trauma). All adults and most caregivers described sources of trauma in interviews not reported on the standard measure. Results have implications for assessing traumatic events in autism and for understanding their contribution to the mental health of this group.

Effects of the Early Phase of COVID-19 on the Autistic Community in Sweden: A Qualitative Multi-Informant Study Linking to ICF.

While the COVID-19 pandemic is ongoing, early outcome studies indicate severe and pervasive global effects of the pandemic and associated measures to prevent the spread of the virus. General population studies, as well as insight into the outcomes for particular groups, will be necessary in order to mitigate potentially long-term effects as well as to prepare for future epidemics or pandemics. The pandemic conditions have been marked by rapid and abrupt changes and unpredictability which are circumstances that leave the autistic population particularly vulnerable to adverse outcomes following the distinctive features of the diagnosis. Studies are only beginning to delineate the outcomes of the global autism community and the present study adds to these findings by providing a local, multi-perspective, qualitative analysis of the lived experiences of the Swedish autism community. In this study, autistic youth and adults, caregivers of autistic individuals, as well as representatives of Swedish interest organizations were interviewed. Thematic analysis was performed on the population as a whole and patterns of results were formalized according to the International Classification of Function, Disability and Health (ICF-CY). Participants report wide-ranging adverse outcomes of the pandemic relating to mental health and access to support, participation in daily activities and socialization, education, and work as well as parental resources. However, participants also report positive outcomes relating to a reduction in specific social and everyday demands, and normalization of lived experiences. Additionally, interviews outlined some strategies used to cope during pandemic conditions. Implications of these findings are discussed.

Human homeostatic iron regulator gene polymorphism in autistic population of India; a case-control study

BackgroundAutism is a heterogeneous neurodevelopmental disorder. Human homeostatic iron regulator (HFE) codes for HFE protein. HFE protein is very essential for inhibitory regulation of the endocytosis of iron. ObjectivePresent study aims to screen C282Y and H63D polymorphism of the HFE gene in autistic children. Method30 autistic children and 30 healthy age-matched control children were included in the study. TXRF analysis was performed for quantification of Iron in plasma. Genomic DNA was extracted using peripheral blood samples and targeted SNPs were screened using Restriction fragment length polymorphism. Genotype, allelic frequencies and risk ratio were calculated using the statistical method. ResultsTXRF analysis shows a significantly very low concentration of iron in autistic children compared to the control group [1039.6 ± 28 μg/L vs 2372.2 ± 35 μg/L, p-value 0.001]. Genetic Study shows that all the 30 controls and 28 autistic cases showed homozygote C/C allele. Two heterozygote C/Y alleles and no homozygous Y/Y allele were observed for C282Y polymorphism for autistic cases. 29 control and 23 autistic cases showed a homozygote H/H allele. 01 control and 07 autistic cases showed heterozygote H/D allele for H63D polymorphism. C282Y and H63D polymorphisms of HFE gene for heterozygous condition showed non-significant evidence of risk for causing autism OR = 5.35, 95%CI = 0.25–116.3, P-value-0.29 and OR = 8.8, 95%CI = 1.0–76.9, P-value = 0.05 respectively. ConclusionsPresent study found that C282Y and H63D were not found to be the risk factor for autism in the targeted study cohort.

Current and lifetime somatic symptom burden among transition-aged autistic young adults.

Somatic symptoms are the most common cause of outpatient medical visits in the general population, yet their presence and severity in individuals on the autism spectrum has rarely been studied. We sought to assess the prevalence, impact, and clinical correlates of 14 commonly reported somatic symptoms in a sample of 290 transition-aged autistic young adults (mean [SD] age: 23.10 [2.38] years, range 18-26; 76.7% diagnosed with autism before age 18) recruited from the Simons Foundation SPARK participant pool. A modified version of the Patient Health Questionnaire-15 was used to assess somatic symptom prevalence/impact, along with measures of depression, anxiety, autistic traits, and quality of life. Somatic symptom burden was much higher in autistic young adults than previously reported in the general population. The most commonly reported current symptoms were fatigue (72.8%), sleep problems (69.0%), and menstrual problems (61.4% of females). Moderate or severe symptom levels were reported by 53.9% of females and 18.75% of males in our cohort, with the odds of females endorsing any given symptom being 2-4 times greater than males. Both individual symptoms and total symptom burden were related to higher levels of depression, anxiety, and autistic traits, along with lower quality of life. Despite little research on this topic previously, somatic symptoms are highly prevalent in autistic young adults, particularly women. Future research is needed to investigate links between somatic symptoms, medical and psychiatric morbidity, and health care utilization in the autistic population. LAY SUMMARY: Somatic symptoms (i.e., physical symptoms such as such as pain, weakness, stomachache, or shortness of breath) are highly prevalent in the general population and account for a large proportion of health care costs. However, few studies have investigated how often these symptoms are reported by autistic adults or their associations with other clinical and demographic variables. Based on self-report data from 290 young autistic adults, we found very high rates of bothersome somatic symptoms in this population, with females endorsing all symptoms at substantially higher rates than males. Somatic symptoms were also associated with worse mental health and quality of life, suggesting that they represent an overlooked contributor to poor health outcomes in the autistic adult population.

Brain activation differences in lexical-semantics processing in autistic population: A meta-analysis of fMRI studies

Brain activation differences in lexical-semantics processing in autistic population: A meta-analysis of fMRI studies

Studying Vulnerable Populations Through an Epigenetics Lens: Proceed with Caution

Epigenetics – the study of mechanisms that influence and modify gene expression – is providing unique insights into how an individual’s social and physical environment impact the body at a molecular level, particularly in populations that experience stigmatization and trauma. Researchers are employing epigenetic studies to illuminate how epigenetic modifications lead to imbalances in health outcomes for vulnerable populations. However, the investigation of factors that render a population epigenetically vulnerable present particular ethical and methodological challenges. Here we are concerned with demonstrating how, in targeting certain populations for epigenetic research, this research may be pathologizing socio-cultural and medical practices in those populations in a way that increases their vulnerability. Using a case study approach, this article examines three vulnerable populations currently of interest to epigenetic researchers – Indigenous, autistic, and transgender populations – in order to highlight some of the challenges of conducting non-stigmatizing research in epigenetics.

Attention-Based Applications in Extended Reality to Support Autistic Users: A Systematic Review

With the rising prevalence of autism diagnoses, it is essential for research to understand how to leverage technology to support the diverse nature of autistic traits. While traditional interventions focused on technology for medical cure and rehabilitation, recent research aims to understand how technology can accommodate each unique situation in an efficient and engaging way. Extended reality (XR) technology has been shown to be effective in improving attention in autistic users given that it is more engaging and motivating than other traditional mediums. Here, we conducted a systematic review of 59 research articles that explored the role of attention in XR interventions for autistic users. We systematically analyzed demographics, study design and findings, including autism screening and attention measurement methods. Furthermore, given methodological inconsistencies in the literature, we systematically synthesize methods and protocols including screening tools, physiological and behavioral cues of autism and XR tasks. While there is substantial evidence for the effectiveness of using XR in attention-based interventions for autism to support autistic traits, we have identified three principal research gaps that provide promising research directions to examine how autistic populations interact with XR. First, our findings highlight the disproportionate geographic locations of autism studies and underrepresentation of autistic adults, evidence of gender disparity, and presence of individuals diagnosed with co-occurring conditions across studies. Second, many studies used an assortment of standardized and novel tasks and self-report assessments with limited tested reliability. Lastly, the research lacks evidence of performance maintenance and transferability.

Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism

Autism is a complex neurodevelopmental disorder, the prevalence of which has increased drastically in India in recent years. Neuroligin is a type I transmembrane protein that plays a crucial role in synaptogenesis. Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. The present study investigated the neuroligin 3 gene in the Indian autistic population by sequencing and in silico pathogenicity prediction of molecular changes. In total, 108 clinically described individuals with autism were included from the North Karnataka region of India, along with 150 age-, sex-, and ethnicity-matched healthy controls. Genomic DNA was extracted from peripheral blood, and exonic regions were sequenced. The functional and structural effects of variants of the neuroligin 3 protein were predicted. One coding sequence variant (a missense variant) and four non-coding variants (two 5'-untranslated region [UTR] variants and two 3'-UTR variants) were recorded. The novel missense variant was found in 25% of the autistic population. The C/C genotype of c.551T>C was significantly more common in autistic children than in controls (p = 0.001), and a significantly increased risk of autism (24.7-fold) was associated with this genotype (p = 0.001). The missense variant showed pathogenic effects and high evolutionary conservation over the functions of the neuroligin 3 protein. In the present study, we reported a novel missense variant, V184A, which causes abnormal neuroligin 3 and was found with high frequency in the Indian autistic population. Therefore, neuroligin is a candidate gene for future molecular investigations and functional analysis in the Indian autistic population.

A systematic review on autistic people's experiences of stigma and coping strategies.

Autism can be understood as a concealable stigmatized identity. This is the first systematic review to synthesize the literature on autistic people's experiences of stigma and coping strategies. 2877 studies were screened and 27 were included in this review. The reviewed literature demonstrates that autistic individuals are acutely aware of being stereotyped, judged, and discriminated by others. Autistic people also show signs of internalizing stigma, rendering them more vulnerable to low self-worth and poorer mental health. To manage the impact of stigma, the included studies suggest that autistic individuals may use these strategies: concealment and camouflaging, selective disclosure and self-advocacy, as well as positive reframing and reconstructing identity. However, the evidence is limited and mixed in terms of how helpful and effective these strategies are. Future studies should include autistic populations with a wider range of intellectual abilities and explore interventions that can support autistic people in managing stigma to supplement interventions that seek to reduce stigma towards autistic people. The power of language in perpetuating and challenging stigma also has important implications for research and practice, underscoring the need for researchers and practitioners to reflect carefully on the messages they are communicating about autism.

Co-occurring conditions and racial-ethnic disparities: Medicaid enrolled adults on the autism spectrum.

Evidence suggests that autistic adults have higher odds of developing several co-occurring conditions, but less is known about disparities by race and ethnicity in this population. Using 2008-2012 Medicaid Analytic eXtract (MAX) data, we (i) identify the prevalence of co-occurring conditions among the population of autistic adult Medicaid beneficiaries compared to a matched sample of those without an autism spectrum disorder (ASD) diagnosis, (ii) conduct logistic regression to estimate odds ratios for these health conditions predicted by an autism diagnosis, and (iii) estimate odds of having these health conditions as predicted by racial/ethnic group among the autistic population only. Overall, autistic adults did not have higher prevalence of some major health conditions (cardiovascular conditions, stroke, cancer, cardiovascular disease), but they did have higher odds of others (nutrition conditions, epilepsy, disorders of the central nervous system). Analysis by racial/ethnic group, however, shows that Black, Hispanic, and Asian autistic beneficiaries had higher odds of diabetes, hospitalized cardiovascular diseases, and hypertension, among other conditions. Policymakers should be aware that racial disparities found in the general population persist in the autistic population and should work to implement systems and programs to improve screening and preventive care for minority autistic populations. LAY SUMMARY: Autistic adults may have several co-occurring physical and mental health conditions, which could differ by racial/ethnic group. We find that, compared to the general Medicaid population, autistic adult Medicaid beneficiaries have elevated odds of some health conditions, like epilepsy and nutrition conditions, as well as some psychiatric conditions, such as anxiety and attention disorders. We also find that many of the same health disparities by racial/ethnic group in the general population persist among the autistic adult Medicaid population. For example, Black, Hispanic, and Asian Medicaid autistic beneficiaries have higher odds of diabetes, and Black and Hispanic autistic beneficiaries have higher odds of obesity and nutrition conditions than white autistic beneficiaries.

Reducing special education costs by providing early intervention for autistic children

AbstractAutism symptoms vary from child to child, but the overall severity can be lessened through early intervention—often specifically early intensive behavioral intervention—when administered at a young enough age. The high costs and heavy time commitment of this intervention, however, tend to discourage public school districts from spending on these programs. In this paper, the cost of early intervention and its impact on the subsequent costs of special education, is compared to the costs of public school special education for autistic children who do not receive intervention. The analysis suggests that North Carolina potentially saves an estimate of over $250,000 per child in reduced annual special education costs by implementing early intervention for their autistic population.

Autismo in età adulta Uomini e donne autistici tra criticità e risorse

Since its relatively recent discovery, autism has been investigated in a number of different scientific areas focusing mainly on the signs and symptoms that allow its diagnosis. To date, a comprehensive theory of autism is still lacking, despite the fact that there are several genetic, neuroscientific and psychological approaches that, in light of the complexity, attempt to provide a description of some of its key features. Although the large amount of research produced in recent years has indeed led to significant insight, data concerning autism in adulthood is scarce. There are two interesting aspects to consider when looking at autism in adulthood. The first concerns the timing of the diagnosis. In fact, there are many individuals, especially women within the high functioning spectrum or Asperger's, who are diagnosed only in mid/late adulthood. The second, concerns the impact on a number of areas such as education, employment, independence and autonomy in autistic adults. Critically, although the severity of autistic symptoms and behavioural difficulties tend to decrease over time, the individual and the family, are often left without adequate supports. Indeed, when looking at post-school educational and occupational perspectives, individuals with autism tend to have worse outcomes than individuals with other disorders, such as intellectual disabilities, specific learning difficulties, speech and language disorders. As a consequence of the lack of investment in this area, there are concerns about accurate screening and diagnosis of adults with autism. The lack of diagnostic tools specifically validated for adults remains a serious methodological challenge for both researchers and clinicians. The aim of the present scoping review is to highlight what emerges in terms of outcomes in the adult autistic population, and how many studies consider the female population. Our results revealed how aspects related to the family, the environment and social policies affect the well-being outcomes of adult autistic individuals. Keywords: Adulthood, Autism; Female autism.

Exploring sensory phenotypes in autism spectrum disorder

BackgroundAtypical reactions to the sensory environment are often reported in autistic individuals, with a high degree of variability across the sensory modalities. These sensory differences have been shown to promote challenging behaviours and distress in autistic individuals and are predictive of other functions including motor, social, and cognitive abilities. Preliminary research suggests that specific sensory differences may cluster together within individuals creating discrete sensory phenotypes. However, the manner in which these sensory differences cluster, and whether the resulting phenotypes are associated with specific cognitive and social challenges is unclear.MethodsShort sensory profile data from 599 autistic children and adults between the ages of 1 and 21 years were subjected to a K-means cluster analysis. Analysis of variances compared age, adaptive behaviour, and traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder across the resultant clusters.ResultsA five-cluster model was found to minimize error variance and produce five sensory phenotypes: (1) sensory adaptive, (2) generalized sensory differences, (3) taste and smell sensitivity, (4) under-responsive and sensation seeking, and (5) movement difficulties with low energy. Age, adaptive behaviour, and traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder were found to differ significantly across the five phenotypes.LimitationsThe results were based on parent-report measures of sensory processing, adaptive behaviour, traits associated with autism, attention-deficit and hyperactivity disorder, and obsessive and compulsive disorder, which may limit the generalizability of the findings. Further, not all measures are standardized, or psychometrically validated with an autism population. Autistic individuals with an intellectual disability were underrepresented in this sample. Further, as these data were obtained from established records from a large provincial database, not all measures were completed for all individuals.ConclusionsThese findings suggest that sensory difficulties in autistic individuals can be clustered into sensory phenotypes, and that these phenotypes are associated with behavioural differences. Given the large degree of heterogeneity in sensory difficulties seen in the autistic population, these sensory phenotypes represent an effective way to parse that heterogeneity and create phenotypes that may aid in the development of effective treatments and interventions for sensory difficulties.

The Strengths and Abilities of Autistic People in the Workplace.

At present, very few autistic people are employed, even though many want to be. It is important that their strengths are identified and valued to help them to find jobs that they enjoy, and that make good use of their skills. The aim of this study was to investigate what strengths autistic people have in the workplace, self-reported by autistic people themselves. In this study, autistic participants (n = 66) completed an online questionnaire that asked their views about employment-related strengths that they experienced. We analyzed these data using thematic analysis to identify commonalities across participants' experiences, and areas where they felt that they could perform better than their nonautistic colleagues. The main strengths identified from these data revealed cognitive advantages such as superior creativity, focus, and memory; increased efficiency and personal qualities such as honesty and dedication; and the ability to offer a unique autism-specific perspective. Overall, this study suggests that autistic people have many employment-related strengths that should be recognized and valued by autistic people and employers alike. By understanding the strengths that could be associated with autism in the workplace, autistic people may be better able to identify their own strengths in the workplace (with the help of support workers, where necessary). The results should also encourage employers to make an effort to recruit and retain autistic employees, making appropriate adjustments to interview processes and working conditions, and seeking out training when needed.

Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India.

Background Autism is one of the most complex, heterogeneous neurological disorders. It is characterized mainly by abnormal communication, impaired social interaction, and restricted behaviors. Prevalence of autism is not clear in Indian population. Aim The present study hypothesized that Y chromosome plays role in sex bias of autism in Indian autistic population. To investigate our hypothesis, we underwent genetic analysis of neuroligin 4Y [ NLGN4Y ] gene by sequencing 85 male autistic children after screening large population of 1,870 mentally ill children from North Karnataka region of India. Result Detailed sequencing of the single targeted gene revealed nine variants including, one novel missense mutation and eight synonymous variants; this accounts for 88.9% of synonymous variants. A single novel missense mutation is predicted to be nonpathogenic on the functions of neuroligin4Y protein but it slightly affects the local configuration by altering the original structure of a protein by changing charge and size of amino acid. Conclusion Probably NLGN4Y gene may not be the risk factor for autism in male children in Indian autistic population. Functional analysis was an important limitation of our study. Therefore, detailed functional analysis is necessary to determine the exact role of novel missense mutation of neuroligin 4Y [ NLGN4Y ] gene especially in the male predominance of autism in Indian autistic population.

Exploring the impact of adolescent cognitive inflexibility on emotional and behavioural problems experienced by autistic adults.

Autistic young people experience high levels of co-occurring mental health difficulties, including anxiety, depression and behavioural difficulties, across their lifespan. Understanding the neuropsychological mechanisms which underlie these difficulties is vital in developing personalised supports and interventions. Cognitive inflexibility is one candidate mechanism which is associated with co-occurring mental health comorbidities but is also associated with other features of autism such as restricted and repetitive behaviours. This study investigates the distinct longitudinal association between cognitive inflexibility, measured using objective neuropsychological measures and emotional and behavioural problems across adolescence and early adulthood. Eighty-one autistic people from a population-based longitudinal study were assessed at 16 and 23 years on measures of emotional and behavioural problems, with cognitive inflexibility, restricted and repetitive behaviours and verbal intelligence quotient measured at 16 years. We used structural equation modelling to investigate the relationship between cognitive inflexibility and emotional and behavioural symptoms at both timepoints while accounting for the severity of restricted and repetitive behaviours and verbal intelligence quotient. Our results indicate an effect of cognitive inflexibility on increased behavioural problems at 16 years and emotional problems across timepoints, which is distinct from restricted and repetitive behaviours and verbal intelligence quotient. Exploratory mediation analyses suggest that cognitive inflexibility may be one mechanism through which emotional difficulties are maintained longitudinally.Lay abstractAutistic people experience high levels of co-occurring mental health difficulties. To develop more effective treatments, a greater understanding of the thinking processes that may lead to these difficulties is needed. Cognitive inflexibility, defined as a rigid pattern of thoughts and subsequently behaviours, is one possible thinking trait which has previously been associated with both co-occurring mental health difficulties but also other features of autism such as restricted and repetitive behaviours. Restricted and repetitive behaviours include repetitive movements, ritualistic behaviours, and/or highly focused interests. This study investigates the relationship between, cognitive inflexibility, measured using neuropsychological tasks, and emotional and behavioural problems across adolescence and early adulthood. Eighty-one autistic people who were recruited to be representative of the wider autism population were assessed at 16 and 23 years on measures of emotional and behavioural problems, with cognitive inflexibility, restricted and repetitive behaviours and verbal intelligence measured at 16 years. We used statistical modelling to investigate the relationship between cognitive inflexibility and emotional and behavioural symptoms at both timepoints while accounting for the possible relationship with restricted and repetitive behaviours and verbal intelligence quotient. Our results suggest that cognitive inflexibility may be an important factor associated with emotional difficulties across adolescence and early adulthood. This suggests that developing intervention approaches targeting cognitive inflexibility may be an important step in improving the mental health of those with autism.