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Why are men infertile?Oxidative stress is one of the major causes of male infertility can be induced by a wide range of biological (age), clinical (varicocele), lifestyle (diet) and environmental (electromagnetic radiation and chemical pollutants) factors. Oxidative stress may impact all aspects of spermatogenesis but is particularly damaging when it is experienced late in the spermatogenic process when male germ cells are differentiating into spermatozoa and are rapidly losing their capacity for DNA repair. An immediate consequence of oxidative stress is that spermatozoa lose their capacity for fertilization, thereby generating a state of infertility/subfertility. However lower levels of oxidative stress can result in spermatozoa that are still competent to fertilize ova but are carrying significant quantities of oxidative DNA damage. If this damage occurs early in spermatogenesis, it can result in a mutation that will be carried to the ovum at the moment of fertilization. Alternatively, if the oxidative DNA damage occurs late in spermatogenesis, it can become fixed as a mutation following fertilization as a result of defective DNA repair in the oocyte. Such DNA damage may be responsible for a range of congenital disorders seen in children, particularly neuropsychiatric conditions such as autism and, critically, infertility.
Multiple risk behaviours (MRBs), typically beginning in adolescence, are associated with increased risk of adverse health and social outcomes. The association between autism and MRBs is little understood.
Data were from the Avon Longitudinal Study of Parents and Children, an UK-based longitudinal, birth cohort study. Exposures were diagnosed autism and four autistic traits: social communication difficulties, pragmatic language, repetitive behaviours and reduced sociability. Outcomes were participation in up to 14 risk behaviours, including alcohol consumption, smoking, risky sexual behaviours and physical inactivity. Outcome data were collected at ages approximately 12, 14, 16 and 18.
Up to 4300 participants were included in latent basis growth curve analyses with adjustment for confounders. Social communication difficulties were associated with an above average level of MRBs engagement at ~12 years (mean difference β 0.26; 95% CI 0.13–0.40), and above average rate of engagement from ages ~12–18 (β 0.08; 95% CI 0.02–0.13). Repetitive behaviours were associated with above average levels of engagement in MRBs at ~12 years (β 0.24; 95% CI 0.09–0.38). Contrastingly, reduced sociability was associated with a reduced rate of engagement in MRBs from ages ~12–18 (β −0.06; 95% CI −0.11 to −0.02). In sex-specific analyses, persisting differences in MRB engagement patterns from ages ~12–18 were observed in males with social communication difficulties and females with reduced sociability temperament.
Having elevated levels of some autistic traits appear to have differentiated effects on MRB engagement patterns. These findings could reflect difficulties fitting in and/or coping mechanisms relating to difficulties with fitting in.
Parents whose autistic1 child’s needs are not met within mainstream schooling may seek alternative modes of education, such as home or distance education. There is a paucity of research on the delivery of home or distance education programs for autistic students. This study reports on the experiences of parents, students and teachers in the inaugural year of Australia’s first hybrid distance education program (distance education with parent/carers as supervisors) specifically designed for autistic students. Interviews with eight parents, four students and two teachers gathered their perceptions of the program’s benefits, challenges and suggestions for improvements. All parents, students and teachers reported positive overall perceptions of and experiences in the program, and a range of outcomes for students and parents. Flexibility was identified as a key benefit of the program. Challenges identified included a lack of opportunities for students’ social interactions and the effort required of parents to support their child’s participation. Additional longitudinal research is needed to determine the long-term impact of programs of this type and to evaluate strategies for increasing student independence.
Intellectual disability (ID) is associated with violent and sexual offending and victimization, but the importance of neuropsychiatric comorbidity and severity of disability remains unclear.
In a register-based cohort study of people born in Sweden 1980–1991 (n = 1 232 564), we investigated associations of mild and moderate/severe ID with any, violent and sexual crimes, and with assault victimization, stratified by comorbid autism and attention deficit hyperactivity disorder (ADHD). We defined ID by attendance at a special school or registered diagnosis and obtained data on criminal convictions and injuries or deaths due to assaults from nationwide registers until end of 2013.
Compared to people without ID, autism or ADHD, men and women with mild or moderate/severe ID and comorbid ADHD had elevated risks of violent crimes [range of hazard ratios (HRs) 4.4–10.4] and assault victimization (HRs 2.0–7.7). Women with mild ID without comorbidities or with comorbid autism also had elevated risks of violent crimes and victimization (HRs 1.8–4.6) compared to women without ID, autism or ADHD. The relative risks of sexual offending and victimization were elevated in men and women with ID without comorbidities (HRs 2.6–12.7). The highest risks for sexual offending in men (HRs 9.4–11.0) and for sexual assault victimization in women (HRs 11.0–17.1) related to ID and comorbid ADHD.
The elevated risk of violent offending and assault victimization in people with ID is largely explained by comorbid ADHD, whereas ID is independently associated with sexual crimes and victimization, even though absolute risks are low.
Autism spectrum disorder (ASD) is a highly heterogeneous disorder that affects nearly 1 in 189 females and 1 in 42 males. However, the neurobiological basis of gender differences in ASD is poorly understood, as most studies have neglected females and used methods ill-suited to capture such differences.
To identify robust functional brain organisation markers that distinguish between females and males with ASD and predict symptom severity.
We leveraged multiple neuroimaging cohorts (ASD n = 773) and developed a novel spatiotemporal deep neural network (stDNN), which uses spatiotemporal convolution on functional magnetic resonance imaging data to distinguish between groups.
stDNN achieved consistently high classification accuracy in distinguishing between females and males with ASD. Notably, stDNN trained to distinguish between females and males with ASD could not distinguish between neurotypical females and males, suggesting that there are gender differences in the functional brain organisation in ASD that differ from normative gender differences. Brain features associated with motor, language and visuospatial attentional systems reliably distinguished between females and males with ASD. Crucially, these results were observed in a large multisite cohort and replicated in a fully independent cohort. Furthermore, brain features associated with the motor network's primary motor cortex node predicted the severity of restricted/repetitive behaviours in females but not in males with ASD.
Our replicable findings reveal that the brains of females and males with ASD are functionally organised differently, contributing to their clinical symptoms in distinct ways. They inform the development of gender-specific diagnoses and treatment strategies for ASD, and ultimately advance precision psychiatry.
Autism and autistic traits are risk factors for suicidal behaviour.
To explore the prevalence of autism (diagnosed and undiagnosed) in those who died by suicide, and identify risk factors for suicide in this group.
Stage 1: 372 coroners’ inquest records, covering the period 1 January 2014 to 31 December 2017 from two regions of England, were analysed for evidence that the person who died had diagnosed autism or undiagnosed possible autism (elevated autistic traits), and identified risk markers. Stage 2: 29 follow-up interviews with the next of kin of those who died gathered further evidence of autism and autistic traits using validated autism screening and diagnostic tools.
Stage 1: evidence of autism (10.8%) was significantly higher in those who died by suicide than the 1.1% prevalence expected in the UK general alive population (odds ratio (OR) = 11.08, 95% CI 3.92–31.31). Stage 2: 5 (17.2%) of the follow-up sample had evidence of autism identified from the coroners’ records in stage 1. We identified evidence of undiagnosed possible autism in an additional 7 (24.1%) individuals, giving a total of 12 (41.4%); significantly higher than expected in the general alive population (1.1%) (OR = 19.76, 95% CI 2.36–165.84). Characteristics of those who died were largely similar regardless of evidence of autism, with groups experiencing a comparably high number of multiple risk markers before they died.
Elevated autistic traits are significantly over-represented in those who die by suicide.
Autistic children, adolescents, and adults face additional challenges, which means that for some, there may be an increased risk of developing mental health problems. These challenges can include difficulties with social skills and relationships, coping, rumination, executive functioning, inflexibility and tolerating uncertainty, sensory issues, and alexithymia. There is increasing evidence that cognitive-behavioral therapy can help with mental health problems when adapted appropriately to meet the needs of autistic children, adolescent, and adults. A variety of adaptions to cognitive-behavioral therapy for autistic people are presented and discussed within this chapter, which include changes to help with sensory issues, structures and routines, communication, social skills, emotions, circumscribed interests, cognitive and behavioral components of therapy, including psychoeducation and homework, as well as the inclusion of parents, family members, and carers within therapy.
Catatonic features can appear in autism spectrum disorders (ASDs). There can be overlap in symptoms across catatonia and ASD. The overall aim of this review is to provide evidence for the presence of catatonic features in subjects with ASD.
A systematic literature search using the Web of Science database from inception to July 10, 2021 was conducted following PRISMA, MOOSE guidelines and the PROSPERO protocol. (CRD42021248615). Twelve studies with information about catatonia and ASD were reviewed. Data from a subset was used to conduct meta-analyses of the presence of catatonia in ASD.
The systematic review included 12 studies, seven of which were used for the meta-analysis, comprising 969 individuals. The mean age was 21.25 (7.5) years. Two studies (16.6%) included only children and adolescents. A total of 70–100% were males. Our meta-analysis showed that 10.4% (5.8–18.0 95%CI) of individuals with ASD have catatonia. Motor disturbances were common in ASD subjects with catatonia. No differences were found in comorbidity. Several treatments have been used in ASD with catatonic features, including benzodiazepines, antipsychotics, and electroconvulsive therapy (ECT). The findings of the systematic review showed that ECT might help manage catatonic symptoms.
Different features of catatonia can exist in individuals with ASD and core symptoms of catatonia are reported in ASD. Longitudinal and longer-term studies are required to understand the relationship between catatonia and ASD, and the response of catatonic symptoms to treatment.
Coronavirus disease 2019 (COVID-19) has had a disproportionate impact on people with intellectual disability (PwID). PwID are at higher risk of mental illness and receive psychotropic prescribing ‘off licence' also, to manage distress behaviour. The lockdown and reduction of multidisciplinary face-to-face appointments had an impact on care delivery, the recourse possibly being psychotropic prescribing. It is imperative to comprehend the influence the pandemic had on psychotropic prescribing patterns to enable future planning.
The aim was to understand the impact of the pandemic by comparing psychotropic prescribing patterns during the England lockdown with the prescribing patterns before lockdown in specialist urban and rural psychiatric services for PwID.
Data was collected from Cornwall (rural) and London (urban) intellectual disability services in England as a service evaluation project to rationalise psychotropic prescribing. PwID in both services open across January 2020 to January 2021 were included. Baseline patient demographics including age, gender, ethnicity, intellectual disability level and neurodevelopmental and psychological comorbidities were collected. Baseline psychotropic prescribing and subsequent % change for each psychotropic group for the two services was compared using Pearson's chi-square and z-statistic (two tailed) with significance taken at P < 0.05.
The two centres London (n = 113) and Cornwall (n = 97) were largely comparable but for baseline differences in terms of presence of severe mental illness (37 v. 86, P < 0.001), challenging behaviour (44 v. 57, P < 0.05) and attention-deficit hyperactivity disorder (37 v. 3, P < 0.001). There was an overall increase in psychotropic prescribing during lockdown in urban as compared with rural settings (11% v. 2%).
The pandemic caused an increase in psychotropic prescribing associated with lockdown severity and urban settings. Team structures could have played a role.
Disability awareness training is mandated by the United Nations Convention on People with Disabilities (UNCRPD), but there is a paucity of evidence regarding the systematic evaluation of the effectiveness of such training. This study describes the evaluation of a pilot intellectual disability awareness programme for law enforcement officers (LEOs) in Ireland.
Pre-and post-training Likert scales and a semi-structured survey were used to evaluate the effectiveness of an intellectual disabilities awareness programme delivered to LEOs. Quantitative differences in Likert scores and thematic analyses of practice-based responses were used in evaluation.
Twenty-two LEOs participated in the training and 11 completed the evaluation cycle. Statistically significant improvements were found in participants’ self-rated knowledge of intellectual disability, their understanding of the challenges faced by people with intellectual disabilities in law enforcement interactions, their communication skills and their knowledge of how to approach a person with a disability in crisis. Thematic analysis excavated potential practical application of learning around pre-arrest considerations, recognition of disability, communication skills and need for procedural safeguards.
An approach grounded in the views of people with intellectual disabilities and with emphasis on recognition of disability, communication, accessibility of information and providing appropriate support in custody, appears to promote improvement in self-reported knowledge and prospective application in LEOs. The findings of this study are potentially applicable to countries that have ratified the UNCRPD.
Lack of knowledge and discriminatory attitudes and behaviours towards individuals with mental disorders is a worldwide problem but may be particularly damaging for young people. This pilot study examined knowledge, attitudes and behaviours towards schizophrenia, bipolar disorder and autism within a large sample of adults in Ireland, a country with the youngest population in Europe, in order to better understand public views on these groups.
In a correlational, cross-sectional design, 307 adults in Ireland over the age of 18 completed a questionnaire over Google Forms examining knowledge, attitudes and behaviours towards schizophrenia, bipolar disorder and autism. Responses to questions specifically relating to each diagnosis were compared using trimmed mean ANOVA to examine whether responses to questions differed depending on diagnosis.
Results indicate varied knowledge, attitudes and behaviours towards these groups, but a majority believe it should be a research priority. ANOVA and post hoc tests revealed significant differences in knowledge, attitudes and behaviours towards each of schizophrenia, bipolar disorder, and autism (p < 0.005), and reported attitudes and behaviours towards schizophrenia were more negative than either bipolar disorder or autism. A majority of participants (54.8%) felt not informed enough about mental health by the media.
In our Irish sample, type and level of stigma varies according to mental health diagnosis. Our sample also report feeling inadequately informed about mental health by the media. Thus future policy and campaigns could consider targeting individual mental health diagnoses, with a focus on increasing familiarity and knowledge.
The search for biomarkers for autism spectrum disorder (henceforth autism) has received a lot of attention due to their potential clinical relevance. The clinical and aetiological heterogeneity of autism suggests the presence of subgroups. The lack of identification of a valid diagnostic biomarker for autism, and the inconsistencies seen in studies assessing differences between autism and typically developing control groups, may be partially explained by the vast heterogeneity observed in autism. The focus now is to better understand the clinical and biological heterogeneity and identify stratification biomarkers, which are measures that describe subgroups of individuals with shared biology. Using stratification approaches to assess treatment within pre-defined subgroups could clarify who may benefit from different treatments and therapies, and ultimately lead to more effective individualised treatment plans.
This chapter will consider identity in relation to the diagnostic category of autism. The heterogeneity of individuals who are diagnosed as autistic represents a key challenge for identity analysts and, more importantly, for the people affected – in terms of societal images of autism and what the label may mean to others. The chapter will introduce situated approaches to identity; without being tied to a specific method, a situated approach implies understanding (a) the conditions that make identity become relevant for those involved, and (b) what the identity affordances for participants are. Firstly, identity is played out in every interactional exchange, as membership is displayed and reaffirmed by social actors; however, membership in ethno-methodological terms is no straightforward achievement for someone who does not experience a satisfactory control on ordinary social practices, as may happen with autism. The chapter will thus cover insights about autism identity generated by interactional research. Secondly, it will discuss cultural processes as interdependent with this level of analysis. To some extents, autism studies went through a revolution similar to the postcolonial one, in which minorities, after having been object of outsiders’ descriptions for a long time, began speaking out for themselves and their communities. The end of the chapter, I will touch upon the specificity of the autistic spectrum condition as being at a boundary between medical condition and disability, and what the consequences are in terms of identity and social positions.
The impact of ‘bad’ science on judicial decision-making is a thorny aspect of the relationship between science and law. This study employs doctrinal and empirical analysis to explore two Italian judgments that asserted a causal link between childhood vaccines and autism. Using a combination of actor–network theory and legal pragmatism, we uncovered a network of actors and institutions internal and external to the legal system enabling these impactful decisions that went on to contribute to a crisis in vaccination coverage in Italy. These include trial strategies, resources, communication practices between arms of government, awareness and responsiveness of institutional actors, and institutional mechanisms governing the integration of scientific expertise into the legal process. By forensically analysing how a ‘zombie idea’ received a patent of legitimacy in the Italian context, this study provides useful lessons for legal systems grappling with complex and contested public health matters.
Ireland has an ageing population of persons with intellectual disability (ID), autism spectrum disorder (ASD) and both (ID/ASD). Despite this, little is known about the prevalence of ASD and its effect on functional outcomes, psychiatric comorbidity or diagnostic issues in an older population with ID. This article reviews the literature on older adults with ID/ASD and identifies opportunities for future research in this population.
The authors searched the Medline, Pubmed, Embase, CINAHL and PsychInfo databases using the search terms using key words: (older adults) AND (ID OR mental retardation OR learning disability) AND (autism OR ASD). After excluding articles for relevance, a scoping review was carried out on the results retrieved.
Of the 1227 articles retrieved from the literature on ID and autism/ASD in older adults, 85 articles were relevant to an adult population with ID/ASD. The data were collated and are presented covering domains of diagnosis, prevalence, psychiatric comorbidities and functional outcomes.
Despite increased prevalence in childhood ASD in the last 20 years, there is a lack of research regarding adults, especially older adults, with ASD, up to half of whom will have some level of ID. The existing literature suggests that older adults with ID/ASD may have reduced functional independence, increased psychiatric comorbidity and psychotropic prescribing and more behavioural presentations than the older population generally or those with ID only. There is a need for longitudinal data to be collected on this ageing population so that care and management needs can be met in the future.
Families of youth with autism spectrum disorder (ASD) are vulnerable to maladaptive psychosocial experiences, including elevated youth emotional and behavioral problems (EBPs) and poor parent couple relationship outcomes. Yet, the extent to which these family psychosocial experiences are intertwined has been given little research attention. The present study longitudinally investigated the bidirectional associations between parent couple conflict (PCC) and youth EBPs in 188 families of children and adolescents with ASD (initially aged 5 to 12 years) across four time points (T1, T2, T3, T4), each spaced 12 months apart. Mother- and father-report of youth EBPs and PCC were entered into a cross-lagged panel model. After adjusting for youth age and intellectual disability status and parent education and couple relationship length, the results indicated that father-report of PCC predicted increased youth EBPs 12 months later (T1→T2 and T2→T3). In addition, father-report of youth EBPs predicted increased PCC 12 months later (T3→T4). Mother-report did not demonstrate cross-lagged effects. The findings suggest that fathers’ perceptions of PCC and youth emotional and behavioral functioning are transactionally related, highlighting the need for family-wide interventions.
Autism spectrum disorder (ASD) is a common and lifelong neurodevelopmental disorder with the hallmark features of social impairment and restricted and repetitive patterns of behaviour. Individuals with ASD often experience co-occurring mental health difficulties, some of which may obfuscate the ASD features themselves. Although there is a high need for mental health services for autistic adults, there are surprisingly few evidence-based treatments (EBTs) available; moreover, many mental health practitioners who are well-trained in EBTs shy away from treating autistic individuals due to lack of training in ASD.
The aim of the current study was to evaluate the feasibility and acceptability of dialectical behaviour therapy skills training (DBT-ST) in a sample of autistic adults without intellectual disability.
Sixteen adults with ASD were recruited from a treatment waiting list to enrol in this study, which included 24 weeks of DBT-ST delivered in a group setting. Feasibility and acceptability were assessed using retention and attendance data and a participant satisfaction questionnaire.
Retention (81.3%) and attendance data (mean 87.5%) provided support for the feasibility of this intervention. Overall satisfaction ratings were high (mean 4.5 out of 5), and participants reported that they felt that DBT-ST would probably be helpful for others with ASD (mean 4.5 out of 5).
The study findings provide preliminary evidence of (1) the feasibility of providing DBT-ST for autistic adults in community-based clinics, and (2) the perceived benefit of DBT-ST for this under-served population. Recommended modifications to the standard DBT-ST materials are discussed.
Timing of developmental milestones, such as age at first walking, is associated with later diagnoses of neurodevelopmental disorders. However, its relationship to genetic risk for neurodevelopmental disorders in the general population is unknown. Here, we investigate associations between attainment of early-life language and motor development milestones and genetic liability to autism, attention deficit hyperactivity disorder (ADHD), and schizophrenia.
We use data from a genotyped sub-set (N = 25699) of children in the Norwegian Mother, Father and Child Cohort Study (MoBa). We calculate polygenic scores (PGS) for autism, ADHD, and schizophrenia and predict maternal reports of children's age at first walking, first words, and first sentences, motor delays (18 months), and language delays and a generalised measure of concerns about development (3 years). We use linear and probit regression models in a multi-group framework to test for sex differences.
We found that ADHD PGS were associated with earlier walking age (β = −0.033, padj < 0.001) in both males and females. Additionally, autism PGS were associated with later walking (β = 0.039, padj = 0.006) in females only. No robust associations were observed for schizophrenia PGS or between any neurodevelopmental PGS and measures of language developmental milestone attainment.
Genetic liabilities for neurodevelopmental disorders show some specific associations with the age at which children first walk unsupported. Associations are small but robust and, in the case of autism PGS, differentiated by sex. These findings suggest that early-life motor developmental milestone attainment is associated with genetic liability to ADHD and autism in the general population.
Way to Play is an approach that supports adults to promote the engagement of young children with autism spectrum disorder through play. The Ministry of Education in New Zealand has collaborated with Autism New Zealand to ensure the sustainable delivery of Way to Play within Auckland’s early learning services by training early intervention staff to both use Way to Play and to coach and support other adults in its use. Key strategies that form the foundation of Way to Play are described, and an outline of the evidence base for these strategies is provided. Preliminary data demonstrate the effectiveness of the training approach and the perceived impact for young children with autism and their parents/carers and teachers. Case examples illustrate how Way to Play is used across home and educational settings to successfully support the engagement and inclusion of young children with autism. Suggestions are made for a comprehensive investigation of program effectiveness.
Stigma is a major burden and impediment for treatment and recovery in serious mental disorders, especially psychotic disorders. Therefore, it has been proposed to replace the term schizophrenia by psychosis susceptibility or psychosis spectrum disorder.
We have assessed stigma in the media through a 10-year survey of Flemish daily newspapers (2008-2017) by comparing the way schizophrenia and autism are portrayed. We added the term psychosis for the years 2013-17 to assess its suitability as a less stigmatising alternative.
Via the websites of the seven Flemish newspapers, we searched for all articles published between 01 Jan 2008 and 31 Dec 2017 containing the keywords autism, schizophrenia, and related terms. The collected articles (n = 5,337) were then graded to their stigmatising content. We added the term psychosis for the years 2013-17.
In the collected articles the coverage of autism was mostly positive, whereas the coverage of schizophrenia was predominantly negative. The contrast was very substantial (p < 0.0001) and stable over the years. The portrayal of psychosis turned out to be mostly positive in the broadsheet newspapers and mostly negative in the tabloid papers.
The social stigma attached to schizophrenia and psychosis is poignantly reflected in the Flemish newspapers. The fact that a comparable disorder such as autism is depicted in a much more favourable way than schizophrenia indicates that a more positive image of schizophrenia is not only desirable but also achievable. Psychosis gives mixed results, a finding up for discussion.