Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency.

Duchenne muscular dystrophy (DMD) is characterized by loss of dystrophin in muscle, however patients also have variable degree of intellectual disability and neurobehavioural co-morbidities. In contrast to muscle, in which a single full-length dystrophin isoform (Dp427) is produced, multiple isoforms are produced in the brain, and their deficiency accounts for the variability of CNS manifestations, with increased risk of comorbidities in patients carrying mutations affecting the 3' end of the gene, which disrupt expression of shorter Dp140 and Dp71 isoforms. A mouse model (mdx mouse) lacks Dp427 in muscle and CNS and exhibits exaggerated startle responses to threat, linked to the deficiency of dystrophin in limbic structures such as the amygdala, which normalize with postnatal brain dystrophin-restoration therapies. A pathological startle response is not a recognized feature of DMD, and its characterization has implications for improved clinical management and translational research. To investigate startle responses in DMD, we used a novel fear-conditioning task in an observational study of 56 males aged 7-12 years (31 affected boys, mean age 9.7 ± 1.8 years; 25 controls, mean age 9.6 ± 1.4 years). Trials of two neutral visual stimuli were presented to participants: one 'safe' cue presented alone; one 'threat' cue paired with an aversive noise to enable conditioning of physiological startle responses (skin conductance response and heart rate). Retention of conditioned physiological responses was subsequently tested by presenting both cues without the aversive noise in an 'Extinction' phase. Primary outcomes were the initial unconditioned skin conductance and change in heart rate responses to the aversive 'threat' and acquisition and retention of conditioned responses after conditioning. Secondary and exploratory outcomes were neuropsychological measures and genotype associations. The mean unconditioned skin conductance response was greater in the DMD group than controls [mean difference 3.0 µS (1.0, 5.1); P = 0.004], associated with a significant threat-induced bradycardia only in the patient group [mean difference -8.7 bpm (-16.9, -0.51); P = 0.04]. Participants with DMD found the task more aversive than controls, with increased early termination rates during the Extinction phase (26% of DMD group versus 0% of controls; P = 0.007). This study provides the first evidence that boys with DMD show similar increased unconditioned startle responses to threat to the mdx mouse, which in the mouse respond to brain dystrophin restoration. Our study provides new insights into the neurobiology underlying the complex neuropsychiatric co-morbidities in DMD and defines an objective measure of this CNS phenotype, which will be valuable for future CNS-targeted dystrophin-restoration studies.

Phenomenology of gender dysphoria in autism: a multiperspective qualitative analysis.

BACKGROUND: Autistic people are overrepresented in gender clinic settings, but limited evidence is available to guide clinical decision making for this patient group. We aimed to generate a comprehensive understanding of the phenomenology of gender dysphoria in autistic people. METHODS: We conducted a multi-perspectival interpretative phenomenological analysis (IPA), from five different perspectives; autistic young people and adults with experience of gender dysphoria, parents of young people, and clinicians working with autistic people with gender dysphoria in both adult and young person settings (n = 68). RESULTS: IPA analysis resulted in two themes, 'discovering gender identity' and 'the complexities of moving towards gender comfort'. Participants agreed that there was often an interaction between gender dysphoria and features of autism such as sensory sensitivities. There was relative consensus across groups about the need for autism adaptations to be made in gender clinics. Autistic adults were more likely to see autism as an important identity than young people, but both groups were clear that autism did not impair their understanding of gender. In contrast, some parents and clinicians working with young people expressed concern that autism did impact self-understanding. DISCUSSION: While the groups tended to agree on the ways in which particular features of autism can compound gender dysphoria, there were a range of perspectives on the ways in which autism impacted on self-knowledge. CONCLUSION: Recommendations for adaptations when working with autistic people with gender dysphoria are presented.

Cognitive behavior therapy for autistic adolescents, awareness and care for my autistic traits program: a multicenter randomized controlled trial.

BACKGROUND: Autistic people demonstrate focused interests, sensitivity to sensory stimulation, and, compared with the general population, differences in social communication and interaction. We examined whether a combination of the Awareness and Care for My Autistic Traits (ACAT) program and treatment-as-usual is more effective than only treatment-as-usual in increasing the understanding of autistic attributes, reducing treatment stigma, and improving mental health and social adaptation among autistic adolescents and their parents/guardians. METHODS: Forty-nine adolescents and their parents/guardians were randomly assigned to either a combination of ACAT and treatment-as-usual or only treatment-as-usual. The combined group received six weekly 100-minute ACAT sessions, while the treatment-as-usual group received no additional intervention. The primary outcome was the change in understanding of autistic attributes (Autism Knowledge Quiz-Child), administered from pre- to post-intervention. The secondary outcomes included the change in Autism Knowledge Quiz-Parent, reduced treatment stigma, and improved mental health and social adaptation among autistic adolescents and their parents/guardians. A primary outcome measure scale was scored by assessors who were blind to the group assignment. RESULTS: The combined group (both autistic adolescents and their parents/guardians) showed an increase in Autism Knowledge Quiz scores compared to those in the treatment-as-usual group. Autistic adolescents in the combined group also demonstrated a decrease in treatment-related stigma and an improvement in general mental health compared to those in the treatment-as-usual group, while there were no group differences in the change in social adaptation. For parents/guardians, there were no group differences in the change in treatment-related stigma, general mental health, adaptive skills, or attitudes toward their children. CONCLUSIONS: The ACAT program could be an effective treatment modality to increase the understanding of autistic attributes among both autistic adolescents and their parents/guardians. The ACAT program positively affects self-understanding, reduces treatment stigma, and stabilizes behavioral issues for autistic adolescents as a part of mental health measures, but it does not effectively reduce treatment barriers or improve mental health for parents/guardians. Further research should consider whether additional support for parents/guardians could be beneficial. TRIAL REGISTRATION: The study was registered in UMIN (UMIN000029851, 06/01/2018).

The lived experience of gender dysphoria in autistic young people: a phenomenological study with young people and their parents.

Gender dysphoria is distress in relation to incongruence between an individual's gender and sex assigned at birth. Gender clinics offer support for gender dysphoria, and there is a higher prevalence of autism in young people attending such clinics than in the general population. We aimed to investigate the lived experiences of autistic young people who have experienced gender dysphoria, and their parents, using a multi-perspectival IPA design. Young autistic people aged 13-17 years (n = 15), and their parents (n = 16), completed in-depth interviews about the young person's experience of gender dysphoria. We analysed each individual transcript to generate individual themes, and for each of the dyads, developed themes which acknowledged the similarities and differences in parent-child perspectives. The first superordinate theme was coping with distress which had two subordinate themes; understanding difficult feelings and focus on alleviating distress with external support. This theme described how young people were overwhelmed by negative feelings which they came to understand as being about gender incongruence and looked to alleviate these feelings through a gender transition. The second superordinate theme was working out who I am which had two subordinate themes: the centrality of different identities and needs and thinking about gender. This theme described how young people and their parents focused on different needs; while young people more often focused on their gender-related needs, parents focused on autism-related needs. We conclude that young people and parents may have different perspectives and priorities when it comes to meeting the needs of autistic young people who experience gender dysphoria.

Avoidant/restrictive food intake disorder and severe food selectivity in children and young people with autism: A scoping review.

AIM: To assess the extent of the scientific literature on avoidant/restrictive food intake disorder (ARFID) in children and young people with autism in order to evaluate and synthesize the evidence on (a) the nature of feeding and eating difficulties in children and young people with autism; (b) the consequences of a severely restricted diet; and (c) what is known about effective treatment approaches. METHOD: PubMed and PsycInfo databases were searched, identifying 56 studies and a narrative synthesis was effected. RESULTS: The literature suggested that ARFID-like presentations are common in children and young people with autism, with severe consequences for physical and mental health. The three drivers mentioned in the DSM-5 criteria, namely a sensory-based avoidance, fear- or phobia-based restriction, and a lack of interest in eating, are present in this population, although sensory sensitivities are currently the most commonly described. Research suggests that ARFID symptoms in children and young people with autism can be amenable to treatment, with evidence that behavioural interventions are feasible and potentially effective in this population. INTERPRETATION: ARFID is a common and impactful problem among young people with autism but is currently under researched. Work is required to (a) identify the prevalence of ARFID in children and young people with autism; (b) uncover the key drivers of ARFID in this population; (c) adapt currently available interventions for use with children and young people with autism; and (d) rigorously test these interventions in clinical trials. WHAT THIS PAPER ADDS: Significant food restriction is common in children and young people with autism. Sensory sensitivities are frequently cited as a reason for food restriction. The prevalence and causes of avoidant/restrictive food disorders in children and young people with autism need further research.

Examining the relationship between autistic spectrum disorder characteristics and structural brain differences seen in anorexia nervosa.

Cortical differences have been reported in Anorexia Nervosa (AN) compared with healthy controls (HC); however, it is unclear if Autism Spectrum Disorder (ASD) characteristics are related to these cortical differences. The aim of this study was to examine if structural measures were correlated to ASD traits in AN. In total 184 female participants participated in the study; 57 acutely underweight AN participants (AAN), 59 weight-restored participants (WR) and 68 HC. Participants underwent structural magnetic resonance imaging as well as completing the Autism Diagnostic Observation schedule, second edition to examine ASD characteristics. Group differences in curvature, gyrification, surface area, thickness, global grey matter and white matter were measured. Correlation and regression analysis were conducted to examine the relationship between cortical measures and ASD characteristics. Two decreased gyrification clusters in the right post central and supramarginal gyrus and decreased global grey matter were observed in the AAN group compared to HC and WR. No correlations between ASD traits and structural measures existed. Our results suggest structural differences seen in individuals with AN do not appear to be related to ASD characteristics.

A comparison of the eating disorder service experiences of autistic and non-autistic women in the UK.

OBJECTIVE: Qualitative studies report that autistic women have poor experiences when being treated for an eating disorder (ED) and express that ED services are not appropriately tailored to meet their needs. It is unclear whether their experience differs to other women accessing ED services. The aim of the current study was to compare autistic and non-autistic women's ED illness history and experiences in ED services. METHOD: An online survey about ED illness history and their experience with ED treatment was completed by 46 autistic women with a restrictive ED and 110 non-autistic women with a restrictive ED. RESULTS: Despite some similarities, there were three key differences in the experiences reported by autistic and non-autistic women. First, autistic women reported a longer duration of ED and being diagnosed with an ED at a younger age than non-autistic women. Second, autistic women reported accessing a broader range of healthcare settings and ED treatments than non-autistic women when being treated for an ED. Finally, autistic women rated their experiences of inpatient care, dietetic input, and cognitive behavioural therapy (CBT) as significantly less beneficial than non-autistic women when being treated for an ED. CONCLUSION: These findings increase understanding of autistic women's ED experience and can help to shape ED services and treatments to better accommodate the needs of their autistic clients.

Trajectories of autistic social traits in childhood and adolescence and disordered eating behaviours at age 14 years: A UK general population cohort study.

BACKGROUND: Some people with eating disorders have difficulties with social communication. However, no longitudinal evidence regarding the direction of this association exists. We investigated trajectories of autistic social traits across childhood and adolescence in adolescents with and without disordered eating behaviours in early adolescence. METHODS: We used data from the Avon Longitudinal Study of Parents and Children. Our disordered eating measure indicated presence of any, monthly and weekly disordered eating (fasting, purging, dieting, binge eating) at age 14 years. Autistic social traits were reported by mothers using the Social and Communication Disorders Checklist (SCDC) at age seven, 11, 14 and 16 years. We modelled SCDC score trajectories using multilevel negative binomial models adjusting for a number of child- and maternal-level confounders. RESULTS: Of the 5,381 adolescents included in our sample, 421 (7.8%) experienced one or more disordered eating behaviours, and 148 (2.8%) weekly episodes. Adolescents with disordered eating had a 20% increase in SCDC scores (relative risk (RR) 1.23, 95% confidence interval (CI):1.14, 1.32) compared to those without disordered eating. This association was particularly apparent for those reporting weekly (RR 1.43, 95%CI: 1.27, 1.61) as opposed to monthly disordered eating (RR 1.12, 95%CI: 1.01, 1.22). CONCLUSIONS: Greater autistic social traits in childhood could represent a risk factor for the development of disordered eating in adolescence. Although mechanisms of this association need to be elucidated, clinicians should be aware that autistic social traits could have predated the eating disorder when managing people with these conditions.

Commentary: 'Camouflaging' in autistic people - reflection on Fombonne (2020).

Fombonne's (2020) editorial is a thought-provoking appraisal of the literature on 'camouflaging', whereby some autistic people mask or compensate for their autistic characteristics as an attempt to fit in and to cope with disabilities under neurotypical social norms. Fombonne (2020) highlights three issues of contention: (a) construct validity and measurement of camouflaging; (b) camouflaging as a reason for late autism diagnosis in adolescence/adulthood; and (c) camouflaging as a feature of the 'female autism phenotype'. Here, we argue that (a) establishing construct validity and measurement of different aspects of camouflaging is warranted; (b) subjective experiences are important for the differential diagnosis of autism in adolescence/adulthood; and (c) camouflaging is not necessarily a feature of autism in female individuals - nevertheless, taking into account sex and gender influences in development is crucial to understand behavioural manifestations of autism. Future research and clinical directions should involve clarification of associated constructs and measurements, demography, mechanisms, impact (including harms and benefits) and tailored support.

The neural correlates of a central coherence task in young women with anorexia nervosa.

OBJECTIVE: Heightened detail-processing and low levels of central coherence are common in individuals with anorexia nervosa (AN) and predict poorer prognosis. However, it is unclear whether these processing styles predate the disorder or, rather, emerge during later stages of AN. The current study aimed to address this question by investigating central coherence, and the neural correlates of central coherence, in a sample of young women with AN with shorter duration of illness than previous studies recruiting adult samples. METHODS: We recruited 186 participants, including: 73 young women with AN, 45 young women weight-recovered from AN, and 68 age-matched controls. Participants completed the Embedded Figures Task during an fMRI scan. RESULTS: There were no significant differences between the participant groups in performance accuracy or reaction time. There were no other between-groups differences in neural response to the Embedded Figures Task. CONCLUSIONS: These findings contrast with evidence from older adults demonstrating differences in the neural underpinning of central coherence amongst participants with AN versus control participants. The current study adds to an increasing literature base demonstrating the resilience of neuropsychological traits and associated brain systems in the early stages of AN.

Experiences of social interaction in young women with Turner syndrome: A qualitative study.

BACKGROUND: Turner Syndrome (TS; 45,X) is a sex chromosome aneuploidy associated with deficits in social interaction, for which clinical care guidelines have recently recommended trialling a social skills training intervention. The present study aimed to gather preliminary evidence to support a training programme for young women. METHODS: Semi-structured interviews and psychometric questionnaires about social ability were administered to young women with TS aged 16 to 25 years old (n=17) and their parents (n=20). Interview transcripts were analysed using thematic analysis. RESULTS: Although young women with TS experienced a "wide range of social competencies," they attributed social challenges to "personal and contextual factors." The magnitude of these challenges to social integration intensified during adolescence. They felt increasingly "out of sync" with their peers. They also considered their social abilities to be better than their parents did; on a scale of autistic traits (rated by parents), half had mild to severe autistic traits. Most expressed interest in taking part in a social skills programme. CONCLUSION: Young women with TS are aware they experience difficulties in social communication, and they express interest in improving their social skills. Accordingly, social skills training during adolescence would be welcomed by them and their families. Any intervention should take account of their feelings of social dislocation arising from hearing difficulties together with limited recognition, and slow processing, of social cues.

The development of autistic social traits across childhood and adolescence in males and females.

BACKGROUND: Autism is a dimensional condition, representing the extreme end of a continuum of social competence that extends throughout the general population. Currently, little is known about how autistic social traits (ASTs), measured across the full spectrum of severity, develop during childhood and adolescence, including whether there are developmental differences between boys and girls. Therefore, we sought to chart the trajectories of ASTs in the general population across childhood and adolescence, with a focus on gender differences. METHODS: Participants were 9,744 males (n = 4,784) and females (n = 4,960) from ALSPAC, a UK birth cohort study. ASTs were assessed when participants were aged 7, 10, 13 and 16 years, using the parent-report Social Communication Disorders Checklist. Data were modelled using latent growth curve analysis. RESULTS: Developmental trajectories of males and females were nonlinear, showing a decline from 7 to 10 years, followed by an increase between 10 and 16 years. At 7 years, males had higher levels of ASTs than females (mean raw score difference = 0.88, 95% CI [.72, 1.04]), and were more likely (odds ratio [OR]  = 1.99; 95% CI, 1.82, 2.16) to score in the clinical range on the SCDC. By 16 years this gender difference had disappeared: males and females had, on average, similar levels of ASTs (mean difference = 0.00, 95% CI [-0.19, 0.19]) and were equally likely to score in the SCDC's clinical range (OR = 0.91, 95% CI, 0.73, 1.10). This was the result of an increase in females' ASTs between 10 and 16 years. CONCLUSIONS: There are gender-specific trajectories of autistic social impairment, with females more likely than males to experience an escalation of ASTs during early- and midadolescence. It remains to be discovered whether the observed female adolescent increase in ASTs represents the genuine late onset of social difficulties or earlier, subtle, pre-existing difficulties becoming more obvious.

Autism spectrum disorders in adult outpatients with obsessive compulsive disorder in the UK.

OBJECTIVES: Patients with obsessive compulsive disorder (OCD) frequently show traits of autism spectrum disorders (ASD). This is one of the first studies to explore the clinical impact of the overlap between OCD and ASD as a categorical diagnosis. METHODS: A cross-sectional survey in 73 adult outpatients with DSM-IV OCD. Autistic traits were measured using the Autism-Spectrum Quotient (AQ). A clinical estimate ASD diagnosis was made by interview using DSM-IV-TR criteria. OCD patients with and without autistic traits or ASD were compared on demographic and clinical parameters and level of OCD treatment-resistance based on treatment history. RESULTS: Thirty-four (47%) patients scored above the clinical threshold on the AQ (≥26) and 21 (27.8%) met diagnostic criteria for ASD. These diagnoses had not been made before. Patients with autistic traits showed a borderline significant increase in OCD symptom-severity (Yale-Brown Obsessive Compulsive Scale (Y-BOCS); p = .054) and significantly increased impairment of insight (Brown Assessment of Beliefs Scale; p = .01). There was a positive correlation between AQ and Y-BOCS scores (p = .04), but not with OCD treatment resistance. CONCLUSION: There is a high prevalence of previously undiagnosed ASD in patients with OCD. ASD traits are associated with greater OCD symptom-severity and poor insight.

Evaluating social (pragmatic) communication disorder.

BACKGROUND: Social (pragmatic) communication disorder (SPCD) is a new diagnosis introduced by DSM-5, characterised by problems with verbal and nonverbal social communication. It is currently unclear whether SPCD is a valid diagnostic category, because little is known about the characteristics of those who meet its criteria. We sought to identify and describe cases of SPCD, to contribute to debates about its validity. We investigated whether the symptoms of SPCD cluster together to form a coherent syndrome that is distinct from autism spectrum disorder (ASD) in terms of its core and associated features. METHODS: Participants were young people (N = 1,081, age range = 4-18 years) who had attended a specialist social communication disorders clinic for children with fluent language and normal-range intelligence. Standardised parent-report data were collected using the Developmental, Dimensional and Diagnostic Interview (3Di), Child Communication Checklist (CCC) and Strengths and Difficulties Questionnaire (SDQ). An algorithm was designed using 3Di and CCC items to implement DSM-5 SPCD criteria. RESULTS: Eighty-eight young people met our criteria for SPCD, with 801 meeting DSM-5 ASD criteria and the remaining 192 having neither SPCD nor ASD ('clinical comparison group'). The core symptoms of SPCD co-occurred to a moderate degree (average interitem correlation = .22). SPCD cases had autistic social difficulties that were intermediate between ASD and the clinical comparison group. SPCD was associated with high rates of nonautistic psychopathology, with 63.5% scoring in the abnormal range of the SDQ's Total Problems scale. CONCLUSIONS: We did not find evidence that SPCD is qualitatively distinct from ASD. Rather, it appears to lie on the borderlands of the autism spectrum, describing those with autistic traits that fall just below the threshold for an ASD diagnosis. SPCD may have clinical utility for identifying people with autistic traits that are insufficiently severe for ASD diagnosis, but who nevertheless require support.

Is "not just right experience" (NJRE) in obsessive-compulsive disorder part of an autistic phenotype?

OBJECTIVE: Harm avoidance (HA) and "not just right experience" (NJRE) have been proposed to be 2 core motivational processes underlying obsessive-compulsive disorder (OCD). The objective of this study was to explore whether NJRE demarcates a neurodevelopmental OCD subgroup distinct from HA related to autistic traits and/or to a broader phenotype of cognitive rigidity and sensory processing difficulties associated with an earlier age of OCD onset. METHODS: A correlational design investigated whether NJRE and HA are distinct entities in OCD and explored their relationship to autism spectrum disorder (ASD) traits measured by the Autism Quotient (AQ), sensory processing, set-shifting, and age of OCD onset in an OCD sample (N=25). RESULTS: NJRE was only moderately (r=.34) correlated to HA and not significant in this study. Consistent with predictions, NJRE was associated with sensory processing difficulties and an earlier age of OCD onset. No significant relationships were found between NJRE and ASD traits as measured by the AQ or set-shifting difficulties. CONCLUSIONS: These preliminary findings suggest a lack of evidence demonstrating NJRE as a manifestation of core autistic traits as measured by the AQ. However, NJRE was associated with sensory abnormalities and an earlier age of OCD onset. The role of NJRE as a developmental, and possibly neurodevelopmental, risk factor for OCD possibly warrants further investigation.

Annual Research Review: The role of the environment in the developmental psychopathology of autism spectrum condition.

BACKGROUND: Although autism spectrum condition (ASC) is strongly genetic in origin, accumulating evidence points to the critical roles of various environmental influences on its emergence and subsequent developmental course. METHODS: A developmental psychopathology framework was used to synthesise literature on environmental factors associated with the onset and course of ASC (based on a systematic search of the literature using PubMed, PsychInfo and Google Scholar databases). Particular emphasis was placed on gene-environment interplay, including gene-environment interaction (G × E) and gene-environment correlation (rGE). RESULTS: Before conception, advanced paternal and maternal ages may independently enhance offspring risk for ASC. Exogenous prenatal risks are evident (e.g. valproate and toxic chemicals) or possible (e.g. selective serotonin reuptake inhibitors), and processes endogenous to the materno-foeto-placental unit (e.g. maternal diabetes, enhanced steroidogenic activities and maternal immune activation) likely heighten offspring vulnerability to ASC. Folate intake is a prenatal protective factor, with a particular window of action around 4 weeks preconception and during the first trimester. These prenatal risks and protective mechanisms appear to involve G × E and potentially rGE. A variety of perinatal risks are related to offspring ASC risk, possibly reflecting rGE. Postnatal social factors (e.g. caregiver-infant interaction, severe early deprivation) during the first years of life may operate through rGE to influence the likelihood of manifesting a full ASC phenotype from a 'prodromal' phase (a proposal distinct to the discredited and harmful 'refrigerator mother hypothesis'); and later postnatal risks, after the full manifestation of ASC, shape life span development through transactions mediated by rGE. There is no evidence that vaccination is a postnatal risk for ASC. CONCLUSIONS: Future investigations should consider the specificity of risks for ASC versus other atypical neurodevelopmental trajectories, timing of risk and protective mechanisms, animal model systems to study mechanisms underlying gene-environment interplay, large-sample genome-envirome designs to address G × E and longitudinal studies to elucidate how rGE plays out over time. Clinical and public health implications are discussed.

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.

AIM: Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders. The aim of the study was to characterize the DMD neuropsychiatric profile fully and to explore underlying genotype/phenotype associations. METHOD: One hundred and thirty males with DMD (mean age 9y 10mo, range 5-17y) in four European centres were included and completed IQ assessment and a neurodevelopmental-screening questionnaire. Of these, 87 underwent comprehensive neuropsychiatric assessment using structured diagnostic interview and parent-reported questionnaires. RESULTS: The overall mean score on the neurodevelopmental questionnaire was significantly abnormal compared with the general population of children (p<0.001). On average, intelligence was below the population mean, with intellectual disability observed in 34 males (26%). Autistic spectrum disorder was identified in 18 (21%), hyperactivity in 21 (24%), and inattention in 38 (44%). Clinical levels of internalizing and externalizing problems were observed in 21 (24%) and 13 (15%) respectively. Over a third of males scored more than two measures of emotional, behavioural, or neurodevelopmental problems. Males with mutations at the 3' end of the DMD gene affecting all protein isoforms had higher rates of intellectual disability and clusters of symptoms. INTERPRETATION: Males with DMD are at very high risk of neuropsychiatric disturbance, and this risk appears to increase with mutations at the 3' end of the gene. Patterns of symptom clusters suggest a DMD neuropsychiatric syndrome, which may require prompt evaluation and early intervention.

Dropping the mask: It takes two.

LAY ABSTRACT: In some situations, autistic people feel pressure to change their social behaviour by camouflaging. In other situations, autistic people feel they don't need to change their social behaviour. Instead, they feel they can socialise in ways that feel authentic or true to themselves. Past research has tended to focus on autistic people's experiences of camouflaging rather than their experiences of authenticity. In this study, we asked autistic people what it is like for them when they can socialise in ways that feel authentic or true to themselves. Autistic people described authentic-feeling socialising as more free, spontaneous and open than camouflaging. In supportive environments, this kind of socialising had more positive and less negative consequences than camouflaging. Autistic people felt that having self-awareness and acceptance of their own social needs and being around autistic and nonautistic people who were accepting and understanding helped them to socialise in authentic-feeling ways. Autistic people also spoke about communication behaviours they felt nonautistic people should use to help overcome misunderstandings and create autism-friendly social environments. These findings suggest it is helpful for autistic people to have access to supportive and accepting social environments in which they feel able to socialise in ways that feel authentic to them. In creating such social environments, it is important to focus on nonautistic people's knowledge and attitude towards autistic people and also their ability to use helpful communication behaviours.

Potential mechanisms underlying the association between feeding and eating disorders and autism.

There is a reliable association between autism and Feeding and Eating Disorders. Concerningly, where these two conditions co-occur, clinical outcomes of Feeding and Eating Disorders are significantly worse, and treatment less effective, than when the Feeding and Eating Disorders occur in neurotypical individuals. Problematically, the reason for the association between autism and Feeding and Eating Disorders is poorly understood, which constrains advances in clinical care. This paper outlines several possible mechanisms that may underlie the observed association and suggests ways in which they may be empirically tested. Mechanisms are split into those producing an artefactual association, and those reflecting a genuine link between conditions. Artefactual associations may be due to conceptual overlap in both diagnostic criteria and measurement, Feeding and Eating Disorders causing transient autistic traits, or the association being non-specific in nature. A genuine association between autism and Feeding and Eating Disorders may be due to common causal factors, autism directly or indirectly causing Feeding and Eating Disorders, and Feeding and Eating Disorders being a female manifestation of autism.

Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study.

In this multi-methods study we explored the characteristics, causes and impact of anxiety in Duchenne muscular dystrophy (DMD) from the perspective of young males with DMD and their parents. Eight young males with DMD (7-18 years) and 14 parents participated in separate focus groups. Perspectives on anxiety were explored using semi-structured interview schedules. Themes were identified using Framework Analysis. Neurodevelopmental, emotional and behavioural symptom scores were obtained using standard instruments including the Strengths and Difficulties Questionnaire and Revised Children's Anxiety and Depression Scale. We identified six common anxiety characteristics: Catastrophic conclusions; Rigidly-held anxieties; Extreme distress; Social anxieties; Physical changes/needs; Unexpected/unfamiliar. Four further themes described influential systemic factors: Individual, Family, and Social responses and Physical environment and service contexts. All DMD participants had significantly higher total difficulties, emotional problems and impact scores than population norms. The Revised Children's Anxiety and Depression Scale showed low sensitivity in identifying anxiety symptoms. Fifty-seven percent (8/14) of parents who had wanted help for their son's anxiety were dissatisfied with the available support. In conclusion, anxiety can severely impact wellbeing and functioning of individuals with DMD. There are important nuances to consider when managing DMD-associated anxiety. We highlight the importance of multimodal assessment considering the multiple contexts within which anxiety arises.