SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

PURPOSE: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. METHODS: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation was assessed using Infinium MethylationEPIC array. The expression pattern of SOX11 in developing human brain was defined using RNAscope. RESULTS: We reported 38 new patients with SOX11 variants. Idiopathic hypogonadotropic hypogonadism was confirmed as a feature of SOX11 syndrome. A distinctive pattern of blood DNA methylation was identified in SOX11 syndrome, separating SOX11 syndrome from other BAFopathies. CONCLUSION: SOX11 syndrome is a distinct clinical entity with characteristic clinical features and episignature differentiating it from BAFopathies.

Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes.

The aim of this case series was to assess and characterize cognitive abilities, autistic traits, and adaptive behaviour in Tatton-Brown-Rahman syndrome (TBRS). The sample included 18 individuals with a clinical and genetic diagnosis of TBRS (11 males, seven females; mean age 17y 7mo, SD 9y 5mo, range 7y 2mo-33y 10mo). The British Ability Scales, Third Edition and the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) were administered to all participants. The Social Responsiveness Scale, Second Edition and the Vineland Adaptive Behaviour Scales, Third Edition were completed by a parent/caregiver. The majority of participants (n=15) had intellectual disability and General Conceptual Ability scores ranged from 39 to 76 (mean 53.17, SD 12.13). Participants displayed a profile of better verbal ability compared with non-verbal reasoning ability and spatial ability. Autistic traits were prevalent and eight participants scored above the cut-off on the ADOS-2, although symptoms were less pronounced in older individuals. Adaptive functioning was impaired but commensurate with intellectual ability. Overall, TBRS is associated with an uneven cognitive profile and a high prevalence of autistic traits. This has implications for identifying appropriate services and support that may be beneficial for individuals with TBRS. WHAT THIS PAPER ADDS: Tatton-Brown-Rahman syndrome is associated with intellectual disability and impaired adaptive functioning. Autistic traits were prevalent within the sample. Lower intellectual ability and adaptive behaviour were associated with greater severity of autistic traits.

The Understanding of Communicative Intentions in Children with Severe-to-Profound Hearing Loss.

The ability to distinguish lies from sincere false statements requires understanding a speaker's communicative intentions and is argued to develop through linguistic interaction. We tested whether this ability was delayed in 26 children with severe-to-profound hearing loss who, based on vocabulary size, were thought to have relatively limited access to linguistic exchanges compared to typically hearing peers (n = 93). Children were presented with toy bears who either lied or made a false statement sincerely. Despite identifying speakers' knowledge/ignorance, deaf or hard of hearing (DHH) children were delayed in identifying lies and sincere false statements when matched for chronological age. When matched for receptive vocabulary, observed discrepancies diminished. Deaf children who experienced early access to conversations with their deaf parents demonstrated no delay. Findings suggest limited access to linguistic exchanges delays the development of a key pragmatic skill.

Understanding the post-diagnostic support priorities of autistic adults in the United Kingdom: A co-produced modified Delphi study.

LAY ABSTRACT: Autistic adults in the United Kingdom report that support for themselves and their peers is not suitable for their needs. There has been an increase in adults receiving an autism diagnosis, which many have reported as having a positive impact on their lives. However, the lack of support and understanding after diagnosis, combined with long wait times for an assessment to obtain a diagnosis and to access follow-on support, is having a negative impact on people's lives. This study took place to find out what support autistic people need and want after receiving their diagnosis. It was co-designed with a group of 10 autistic adults which means that the researchers and group members collaboratively designed the research. For the study, 43 autistic adults, diagnosed aged 18 or older, completed three questionnaires. A fourth questionnaire followed that was completed by 139 autistic people who received their diagnosis in adulthood. These questionnaires aimed to help people identify their own priorities when it came to the support they would have liked to receive after being given their autism diagnosis. Participants ranked access to support where they live, training of professionals, support to process the impact of a late diagnosis, use of their preferred mode of contact and a personalised support plan as their top priorities. This demonstrates that local support is highly valued by autistic adults, as are well-trained professionals who offer a range of contact options, support to process a late-in-life autism diagnosis and help to develop and implement support plans.

How healthcare systems are experienced by autistic adults in the United Kingdom: A meta-ethnography.

LAY ABSTRACT: Autistic adults are more likely to experience mental and physical health difficulties, and yet can find it difficult to get the support that they need. A meta-ethnographic approach was used to review the existing research on autistic adults' experiences of accessing healthcare. Four databases were searched for qualitative and mixed-method studies which looked at the experiences of autistic adults who did not also have a learning disability when using healthcare services in the United Kingdom. Fifteen papers met the criteria to be included, and seven steps were used to analyse the information and develop new themes. Three main themes were identified: Professionals' lack of knowledge can be damaging, Need to reduce processing demands and Adaptation to improve engagement. This review highlights how damaging misdiagnosis, inappropriate treatment, overwhelming environments and systems that are difficult to access can have on the well-being of autistic adults. Limited knowledge and understanding about autism knowledge among healthcare professionals along with autistic adult's own communication and sensory differences indicate that there is a need for improved training developed with autistic adults and adaptations.

The Gestalt of functioning in autism revisited: First revision of the International Classification of Functioning, Disability and Health Core Sets.

LAY ABSTRACT: Autistic people experience individual strengths and challenges as well as barriers and facilitators in their environment. All of these factors contribute to how well autistic people can cope in everyday life, fulfill the roles they choose, and meet their needs. The World Health Organization has developed a system aiming to capture the many factors within people (like how someone thinks and feels) and outside of people (things around a person) that influence their daily living, called the International Classification of Functioning, Disability and Health. The International Classification of Functioning, Disability and Health can be used for different purposes in research and practice to assess people's situations and plan support measures. Previously in 2019, the International Classification of Functioning, Disability and Health was adapted to autism by developing so-called Core Sets, which are shorter International Classification of Functioning, Disability and Health versions for use in specific conditions. Here, we present the first revisions of the International Classification of Functioning, Disability and Health Core Sets for autism, based on research, development results, and community feedback. Some factors influencing daily life for autistic people were added to the Core Sets, and other factors deemed less relevant were removed. Changes were also made in Core Sets designed for different age groups (0-5, 6-16, and ⩾17 years). Particularly, contents for sensory processing (like smell, touch, seeing, hearing) were added. We recommend these updated Core Sets for future use in autism research and practice. These changes to the Core Sets after 4 years indicate that there should be ongoing updates based on research and experience from practice and involvement of stakeholders.

I see you, you see me: the impact of social presence on social interaction processes in autistic and non-autistic people.

Environments that require social interaction are complex, challenging and sometimes experienced as overwhelming by autistic people. However, all too often theories relating to social interaction processes are created, and interventions are proposed, on the basis of data collected from studies that do not involve genuine social encounters nor do they consider the perception of social presence to be a potentially influential factor. In this review, we begin by considering why face-to-face interaction research is important in this field. We then discuss how the perception of social agency and social presence can influence conclusions about social interaction processes. We then outline some insights gained from face-to-face interaction research conducted with both autistic and non-autistic people. We finish by considering the impact of social presence on cognitive processes more broadly, including theory of mind. Overall, we demonstrate that choice of stimuli in studies assessing social interaction processes has the potential to substantially alter conclusions drawn. Ecological validity matters and social presence, in particular, is a critical factor that fundamentally impacts social interaction processes in both autistic and non-autistic people. This article is part of a discussion meeting issue 'Face2face: advancing the science of social interaction'.

Social attention patterns of autistic and non-autistic adults when viewing real versus reel people.

LAY ABSTRACT: Early research shows that autistic adults do not attend to faces as much as non-autistic adults. However, some recent studies where autistic people are placed in scenarios with real people reveal that they attend to faces as much as non-autistic people. This study compares attention to faces in two situations. In one, autistic and non-autistic adults watched a pre-recorded video. In the other, they watched what they thought were two people in a room in the same building, via a life webcam, when in fact exactly the same video in two situations. We report the results of 32 autistic adults and 33 non-autistic adults. The results showed that autistic adults do not differ in any way from non-autistic adults when they watched what they believed was people interacting in real time. However, when they thought they were watching a video, non-autistic participants showed higher levels of attention to faces than non-autistic participants. We conclude that attention to social stimuli is the result of a combination of two processes. One innate, which seems to be different in autism, and one that is influenced by social norms, which works in the same way in autistic adults without learning disabilities. The results suggest that social attention is not as different in autism as first thought. Specifically, the study contributes to dispel long-standing deficit models regarding social attention in autism as it points to subtle differences in the use of social norms rather than impairments.

'I'm not just being difficult . . . I'm finding it difficult': A qualitative approach to understanding experiences of autistic parents when interacting with statutory services regarding their autistic child.

LAY ABSTRACT: Becoming a parent is an important part of adult life for many people, including autistic people. Many parents of autistic children can find getting the right support for their children difficult. Knowledge is currently poor about how this is experienced by parents who are also autistic themselves. The main researcher is also an autistic parent to an autistic child and other experts by experience were consulted in the development of the study. Ten autistic mothers with autistic children in mainstream education were interviewed about their experiences of seeking support for their autistic children from services such as healthcare and education. Participants talked about finding the overall system being the main problem, rather than the individuals working in it, and about needing to fight to get the right support for their children. These are points that non-autistic parents have also raised before. Participants also talked about feeling judged and stigmatised for being autistic, and about struggling to manage sensory and communication difficulties, which is something that has not been talked about by non-autistic parents. Improving services to offer better support to autistic families is important and can be achieved through better training. This training should be developed and run by autistic adults and focus on positive aspects of autism, rather than negative.

Sensory processing in Sotos syndrome and Tatton-Brown-Rahman Syndrome.

Sotos syndrome (Sotos) and Tatton-Brown-Rahman Syndrome (TBRS) are two of the most common overgrowth disorders associated with intellectual disability. Individuals with these syndromes tend to have similar cognitive profiles and high likelihood of autism symptomatology. However, whether and how sensory processing is affected is currently unknown. Parents/caregivers of 36 children with Sotos and 20 children with TBRS completed the Child Sensory Profile-2 (CSP-2) and the Sensory Behavior Questionnaire (SBQ) along with other standardized questionnaires assessing autistic traits (Social Responsiveness Scale, Second Edition, SRS-2), attention deficit hyperactivity disorder (ADHD) traits (Conners 3), anxiety (Spence Children's Anxiety Scale, Parent Version, SCAS-P), and adaptive behavior (Vineland Adaptive Behavior Scales Third Edition). Sensory processing differences were clearly evident in both syndromes, though there was significant variation in both cohorts. SBQ data indicated that both the frequency and impact of sensory behavior were more severe when compared to neurotypicals, with levels of sensory behavior impact and frequency being similar to autistic children. CSP-2 data indicated 77% of children with Sotos and 85% children with TBRS displayed clear differences in sensory Registration (missing sensory input). Clear differences relating to Body Position (proprioceptive response to joint and muscle position; 79% Sotos; 90% TBRS) and Touch (somatosensory response to touch on skin; 56% Sotos; 60% TBRS) were also particularly prevalent. Correlation analyses demonstrated that in both syndromes sensory processing differences tend to be associated with difficulties relating to autistic traits, anxiety, and some domains of ADHD. In Sotos, sensory processing differences were also associated with lower adaptive behavior skills. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with Sotos and TBRS, demonstrates that sensory processing differences have a profound impact on everyday life. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Gaze cueing, mental States, and the effect of autistic traits.

The ability to interpret and follow the gaze of our social partners is an integral skill in human communication. Recent research has demonstrated that gaze following behaviour is influenced by theory of mind (ToM) processes. However, it has yet to be determined whether the modulation of gaze cueing by ToM is affected by individual differences, such as autistic traits. The aim of this experiment was to establish whether autistic traits in neurotypical populations affect the mediation of gaze cueing by ToM processes. This study used a gaze cueing paradigm within a change detection task. Participants' perception of a gaze cue was manipulated such that they only believed the cue to be able to 'see' in one condition. The results revealed that participants in the Low Autistic Traits group were significantly influenced by the mental state of the gaze cue and were more accurate on valid trials when they believed the cue could 'see'. By contrast, participants in the High Autistic Traits group were also more accurate on valid trials, but this was not influenced by the mental state of the gaze cue. This study therefore provides evidence that autistic traits influence the extent to which mental state attributions modulate social attention in neurotypical adults.

Short report: Behavioural characterisation of SOX11 syndrome.

BACKGROUND: SOX11 syndrome is a rare condition caused by deletions or de novo point mutations of the SOX11 gene. SOX11 is a transcription factor gene that plays an important role in brain development. AIMS: The aim of this study was to quantitatively evaluate the behavioural profiles of individuals with SOX11 syndrome. METHODS AND PROCEDURES: The Vineland Adaptive Behaviour Scales 3 (VABS-3) and the Social Responsiveness Scale 2 (SRS-2) were completed by parents of 21 children and young adults with SOX11 syndrome. OUTCOMES AND RESULTS: Most were found to have borderline (33 %) or mild (39 %) impairment in adaptive behaviour, with more difficulties in communication and daily living than socialisation in the cohort overall. Most (90 %) were found to exhibit clinically relevant levels of autistic traits, with 62 % scoring in the "severe" range, though social motivation was observed to be a relative strength in the cohort overall. CONCLUSIONS AND IMPLICATIONS: This study presents the first standardised evaluation of adaptive behaviour and autistic traits of individuals with SOX11 syndrome. This will improve clinicians, educators and parents' understanding of SOX11 syndrome.

Autistic women's experiences of self-compassion after receiving their diagnosis in adulthood.

LAY ABSTRACT: Knowledge of autistic individuals' experiences of self-compassion is very limited. This study investigated autistic women's experiences of self-compassion after receiving their diagnosis in adulthood. Eleven autistic women were interviewed about their experiences of receiving their diagnosis in adulthood and their experiences of self-compassion. Systematic analysis of the interview transcripts revealed common themes in the participants' experiences. Participants reported that their autism diagnosis helped them to better understand themselves, particularly when reflecting on problematic past experiences. After receiving an autism diagnosis, participants described being able to relate to themselves with greater self-kindness compared to previous self-criticism; this included allowing themselves to assert their needs and engage in self-care activities. Participants spoke about having difficult social experiences, including feeling pressure to conform to expectations in society and often feeling misunderstood. The findings highlight the barriers autistic women face obtaining their diagnoses and demonstrate the need for autism training for professionals to support early identification. Findings from this study suggest that interventions aimed at developing self-compassion could support and enhance autistic women's well-being.

Sensory processing in 16p11.2 deletion and 16p11.2 duplication.

Deletions and duplications at the chromosomal region of 16p11.2 have a broad range of phenotypic effects including increased likelihood of intellectual disability, autism, attention deficit hyperactivity disorder (ADHD), epilepsy, and language and motor delays. However, whether and how sensory processing is affected has not yet been considered in detail. Parents/caregivers of 38 children with a 16p11.2 deletion and 31 children with a 16p11.2 duplication completed the Sensory Behavior Questionnaire (SBQ) and the Child Sensory Profile 2 (CSP-2) along with other standardized questionnaires assessing autistic traits (SRS-2), ADHD traits (Conners 3), anxiety (SCAS-P) and adaptive behavior (VABS-3). SBQ and CSP-2 responses found that sensory processing differences were clearly evident in both 16p11.2 deletion and 16p11.2 duplication, though there was significant variation in both cohorts. SBQ data indicated the frequency and impact of sensory behavior were more severe when compared to neurotypical children, with levels being similar to autistic children. CSP-2 data indicated over 70% of children displayed clear differences in sensory registration (missing sensory input). Seventy-one percent with 16p11.2 duplications were also unusually sensitive to sensory information and 57% with 16p11.2 duplications were unusually avoidant of sensory stimuli. This first detailed assessment of sensory processing, alongside other clinical features, in relatively large cohorts of children with a 16p11.2 deletion and 16p11.2 duplication demonstrates that sensory processing differences have a profound impact on their lives.

Investigating neural dynamics in autism spectrum conditions outside of the laboratory using mobile electroencephalography.

There is currently a paucity of neuroscientific data recorded from more severely affected individuals with autism spectrum conditions (ASC). Enabling data collection to take place in a more familiar environment, that is, at home, may increase access to research participation in this group. Here, we present a new accessible method of studying brain activity of autistic individuals outside the laboratory in their home environment, using mobile electroencephalography (EEG) technology. The primary aim of the present study was to test the feasibility of acquiring good quality EEG data from autistic children at home, assessed via a set of objective data quality metrics, and to develop a list of practical guidelines on how to successfully conduct an EEG experiment in such a naturalistic setting based directly upon participants' views. To demonstrate the utility of this method, we evaluated the EEG signal quality recorded from 69 children with ASC at home using a gel-based Eego Sports mobile EEG system. Five key indicators of data quality were assessed. Our results demonstrate that it is possible to record high quality EEG signal from children with ASC at home, generating data that could address a number of research questions. A user experience survey identified areas of good practice, which researchers should take into consideration when designing mobile EEG studies aiming to acquire data from children with ASC at a home environment.

The Effect of Social Presence on Mentalizing Behavior.

Our behavior is frequently influenced by those around us. However, the majority of social cognition research is conducted using socially isolated paradigms, without the presence of real people (i.e., without a "social presence"). The current study aimed to test the influence of social presence upon a measure of mentalizing behavior in adults. Study 1 used a first-order theory of mind task; and study 2 used a second-order theory of mind task. Both studies included two conditions: live, where the task protagonists were physically present acting out the task, or recorded, where the same task protagonists demonstrated the task in a video recording. In both experiments, participants were affected by the social presence and demonstrated significantly different patterns of behavior in response to the presence of real people. This study, therefore, highlights the critical importance of understanding the effect of a social presence in mentalizing research, and suggests that the inclusion of a social presence needs to be given strong consideration across social cognition paradigms.

Sensitivity to Social Agency in Autistic Adults.

The presence of other people, whether real or implied, can have a profound impact on our behaviour. However, it is argued that autistic individuals show decreased interest in social phenomena, which leads to an absence of these effects. In this study, the agency of a cue was manipulated such that the cue was either described as representing a computer program or the eye movements of another participant. Both neurotypical and autistic participants demonstrated a social facilitation effect and were significantly more accurate on a prediction task when they believed the cue represented another participant. This demonstrates that whilst autistic adults may show difficulties in interpreting social behaviour this does not necessarily arise from a lack of sensitivity to social agency.

Intense connection and love: The experiences of autistic mothers.

LAY ABSTRACT: For many women, adulthood involves becoming a mother. Knowledge of how motherhood is experienced by autistic women is currently poor. Poor knowledge has a range of negative consequences and can lead to inappropriate support. In this study, nine autistic women were interviewed about their experiences of motherhood. Seven of the nine mothers had an officially diagnosed autistic child, the final two mothers also suspected at least one of their children to be autistic. Systematic in-depth analysis of interview transcripts identified a range of common themes. Participants largely experienced motherhood as joyful, rewarding, and enjoyable, though managing children's needs had a profound personal impact. Participants reflected on the need for self-care and self-acceptance, resulting in personal growth and adaptation. Participants also spoke of strong bonds, feelings of intense connection, and a range of shared experiences with their children. It was also clear that autistic motherhood is associated with a series of challenges unlikely to be experienced by non-autistic mothers, including the necessity of negotiating misunderstandings from others. The findings demonstrate that, generally, professionals need to be better educated on how autism presents in adulthood, including the fact that autistic women often engage in behaviour to mask their true self. Professionals need to know that there is potential for mismatching between emotional experience and facial expression, that autistic women have sensory needs (especially in pregnancy). Professionals frequently struggle to effectively take the needs and perspectives of autistic mothers into account, resulting in profoundly negative consequences for the mother.

Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome.

Silver-Russell syndrome is a rare genetic imprinting disorder. Two molecular causes of Silver-Russell syndrome have been identified: loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 (matUPD7). Current understanding of the cognitive and behavioral phenotypes associated with these two molecular subtypes is limited. This study aimed to address this gap in the literature. The Social Responsiveness Scale (SRS-2) was used to assess autistic traits in individuals with 11p15 LOM (n = 47) and matUPD7 (n = 32). A subset of participants with 11p15 LOM (n = 18) and matUPD7 (n = 15) completed in-person assessments: the Autism Diagnostic Observation Schedule (ADOS-2) and the British Ability Scales (BAS3). Overall, 37.50% of the matUPD7 group and 10.64% of the 11p15 LOM group scored above the SRS-2 severe clinical cut-off. Based on the ADOS-2, 33.33% of the matUPD7 participants and 11.11% of the 11p15 LOM participants scored above cut-off for autism spectrum/autism. Intellectual ability was significantly lower in the matUPD7 group (M = 79.86) compared with the 11p15 LOM group (M = 98.56). However, there was no evidence of an uneven cognitive profile associated with either group or of an association between autistic traits and intellectual ability. Although both 11p15 LOM and matUPD7 have the same clinical diagnosis of Silver-Russell syndrome, there are some differences in the cognitive and behavioral phenotypes between these two molecular subtypes. This has implications for considering access to services, intervention, and support within these populations, particularly in relation to learning and behavior. (PsycInfo Database Record (c) 2020 APA, all rights reserved).