1. Nurse-Driven Interventions for Improving ELBW Neurodevelopmental Outcomes. The Journal of perinatal & neonatal nursing. 2022; 36(4): E14.

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2. Alagia M, Fecarotta S, Romano A, Parrini E, Auricchio G, Miano MG, Terrone G. A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy. Pediatric neurology. 2022; 138: 58-61.

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3. Doi H, Iijima N, Furui A, Soh Z, Yonei R, Shinohara K, Iriguchi M, Shimatani K, Tsuji T. Prediction of autistic tendencies at 18 months of age via markerless video analysis of spontaneous body movements in 4-month-old infants. Scientific reports. 2022; 12(1): 18045.

Early intervention is now considered the core treatment strategy for autism spectrum disorders (ASD). Thus, it is of significant clinical importance to establish a screening tool for the early detection of ASD in infants. To achieve this goal, in a longitudinal design, we analyzed spontaneous bodily movements of 4-month-old infants from general population and assessed their ASD-like behaviors at 18 months of age. A total of 26 movement features were calculated from video-recorded bodily movements of infants at 4 months of age. Their risk of ASD was assessed at 18 months of age with the Modified Checklist for Autism in Toddlerhood, a widely used screening questionnaire. Infants at high risk for ASD at 18 months of age exhibited less rhythmic and weaker bodily movement patterns at 4 months of age than low-risk infants. When the observed bodily movement patterns were submitted to a machine learning-based analysis, linear and non-linear classifiers successfully predicted ASD-like behavior at 18 months of age based on the bodily movement patterns at 4 months of age, at the level acceptable for practical use. This study analyzed the relationship between spontaneous bodily movements at 4 months of age and the ASD risk at 18 months of age. Experimental results suggested the utility of the proposed method for the early screening of infants at risk for ASD. We revealed that the signs of ASD risk could be detected as early as 4 months after birth, by focusing on the infant’s spontaneous bodily movements.

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4. Downs J, Blackmore AM, Wong K, Buckley N, Lotan M, Elefant C, Leonard H, Stahlhut M. Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial. Developmental medicine and child neurology. 2022.

AIM: To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome (RTT). METHOD: In this multicentre randomized waitlist-controlled trial, we recruited 43 ambulatory individuals with RTT in Australia and Denmark. Adequate baseline data were obtained from 38 participants (mean age 20 years, range 6-41, SD 10 years 6 months, one male). All completed the trial. Participants received 12 weeks of usual care (n = 19) or a goal-based, telehealth-supported programme in which activities occurred in their familiar environments (n = 19). Sedentary time and daily steps were assessed at baseline, post-test, and 12-week follow-up. The data analyst was blinded to group allocation. RESULTS: Sedentary time decreased in the intervention group by 2.7% (95% confidence interval [CI] -6.0 to 0.6) and increased in the control group by 1.3% (95% CI -4.8 to 7.4). Intervention and control groups increased the number of their steps per day by 264.7 (95% CI -72.2 to 601.5) and 104.8 (95% CI -178.1 to 387.7) respectively. No significant differences were found on any outcomes at post-test. There were three minor adverse events. INTERPRETATION: A goal-based telehealth intervention seemed to produce small improvements in physical activity for individuals with RTT. Families require more support to increase these individuals’ extremely low physical activity levels.

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5. Fox E, Gerdts J, Ahlers K, Kotchick B. Age-Based Tracks: A Method to Tailor Autism Diagnostic Evaluation in Large-Scale Autism Specialty Centers. Journal of clinical medicine. 2022; 11(21).

This paper describes a proposed model of diagnostic evaluation for autism spectrum disorder (ASD) at a large-scale ASD specialty center. Our center has implemented age-based diagnostic tracks within an interdisciplinary team evaluation approach to assessing ASD. Data were collected as part of a program evaluation and included responses from provider surveys as well as patient medical record reviews. The results from 803 patients were included. The diagnostic outcomes, time for evaluation, and appropriateness of referral were analyzed in patients referred to the Younger (n = 155) and Older (n = 648) diagnostic tracks. In 92.8% of cases referred to the clinic’s standard team evaluation model, the provider teams were able to make a diagnostic decision within the allotted evaluation time. The results from an additional diagnostic pathway, termed the Autism Psych Team (APT), within the older track were also presented. The intake providers had the option to triage older patients to this pathway when they anticipated that the patient might be diagnostically complex. Most patients (45.1%) triaged to the APT were referred due to psychiatric complexity. In 96% of APT cases, the APT providers felt the patient was an appropriate referral. Overall, these results suggest a method to efficiently triage patients to diagnostic models equipped to serve them within a high-volume ASD center.

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6. Frolli A, Ciotola S, Esposito C, Fraschetti S, Ricci MC, Cerciello F, Russo MG. AAC and Autism: Manual Signs and Pecs, a Comparison. Behavioral sciences (Basel, Switzerland). 2022; 12(10).

Autism Spectrum Disorders (ASD) represent a heterogeneous group of disorders, with onset in developmental age, which present a clinical expressiveness that varies from subject to subject and in the same subject over time. The DSM 5 defines Autism Spectrum Disorders according to two main criteria: persistent deficits in social communication and social interaction in multiple contexts and limited and repetitive patterns of behavior, interests or activities. This disorder can manifest itself across a broad spectrum of severity levels. Indeed, ASD includes clinical conditions from low functioning (LF-Low Functioning) to high functioning (HF-High Functioning), taking cognitive and adaptive functioning as a reference. One of the main characteristics of individuals with ASD is a delay in receptive and expressive communication. These deficits have led to the identification of evidence-based practices, particularly for those with severe communication difficulties. Augmentative Alternative Communication (AAC) has been implemented to compensate for deficits in functional communication and language skills in individuals with complex communication deficits. The AAC comprises communication systems including the Manual Signs, speech and image output devices (Communicators), and Image Exchange Systems (PECS); these systems have been shown to actually improve various abilities in autism such as social skills, modify and improve dysfunctional behaviors and, above all, improve learning. Recent meta-analyses have shown how PECS and Manual Sign can have great effects on the communication skills of young people with autism. The aim of this study is to compare these two types of intervention to improve communication in terms of vocalization in subjects with ASD and try to understand which of the two lead to more significant and rapid improvements.

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7. Genovese AC, Singh SC, Casubhoy I, Hellings JA. Gender Diverse Autistic Young Adults: A Mental Health Perspective. Archives of sexual behavior. 2022.

Gender diverse autistic young adults often face mental health challenges which can increase the challenge of obtaining gender-affirming care. Social and communication differences associated with autism compounds the already complex process of navigating a path toward gender affirmation for individuals with these intersecting identities. In this case series of four gender diverse autistic adults, we demonstrate that success in management of their mental health crises was achieved through enlisting family and social support, obtaining effective mental health treatment, and accessing gender-affirming healthcare. These cases selected from two neuropsychiatric outpatient tertiary referral clinics demonstrate that effective mental health treatment supports ultimate success for these individuals in their journeys toward living as the gender with which they identify. We conclude that healthcare practices and treatment recommendations which incorporate internationally recognized standards of care guidelines for gender diverse individuals improve patient outcomes.

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8. Guastella AJ, Boulton KA, Whitehouse AJO, Song YJ, Thapa R, Gregory SG, Pokorski I, Granich J, DeMayo MM, Ambarchi Z, Wray J, Thomas EE, Hickie IB. The effect of oxytocin nasal spray on social interaction in young children with autism: a randomized clinical trial. Molecular psychiatry. 2022: 1-9.

Early supports to enhance social development in children with autism are widely promoted. While oxytocin has a crucial role in mammalian social development, its potential role as a medication to enhance social development in humans remains unclear. We investigated the efficacy, tolerability, and safety of intranasal oxytocin in young children with autism using a double-blind, randomized, placebo-controlled, clinical trial, following a placebo lead-in phase. A total of 87 children (aged between 3 and 12 years) with autism received 16 International Units (IU) of oxytocin (n = 45) or placebo (n = 42) nasal spray, morning and night (32 IU per day) for twelve weeks, following a 3-week placebo lead-in phase. Overall, there was no effect of oxytocin treatment over time on the caregiver-rated Social Responsiveness Scale (SRS-2) (p = 0.686). However, a significant interaction with age (p = 0.028) showed that for younger children, aged 3-5 years, there was some indication of a treatment effect. Younger children who received oxytocin showed improvement on caregiver-rated social responsiveness ( SRS-2). There was no other evidence of benefit in the sample as a whole, or in the younger age group, on the clinician-rated Clinical Global Improvement Scale (CGI-S), or any secondary measure. Importantly, placebo effects in the lead-in phase were evident and there was support for washout of the placebo response in the randomised phase. Oxytocin was well tolerated, with more adverse side effects reported in the placebo group. This study suggests the need for further clinical trials to test the benefits of oxytocin treatment in younger populations with autism.Trial registration www.anzctr.org.au (ACTRN12617000441314).

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9. Hamilton C, Liebert A, Pang V, Magistretti P, Mitrofanis J. Lights on for Autism: Exploring Photobiomodulation as an Effective Therapeutic Option. Neurology international. 2022; 14(4): 884-93.

Autism is a neurodevelopmental condition that starts in childhood and continues into adulthood. The core characteristics include difficulties with social interaction and communication, together with restricted and repetitive behaviours. There are a number of key abnormalities of brain structure and function that trigger these behavioural patterns, including an imbalance of functional connectivity and synaptic transmission, neuronal death, gliosis and inflammation. In addition, autism has been linked to alterations in the gut microbiome. Unfortunately, as it stands, there are few treatment options available for patients. In this mini-review, we consider the effectiveness of a potential new treatment for autism, known as photobiomodulation, the therapeutic use of red to near infrared light on body tissues. This treatment has been shown in a range of pathological conditions-to improve the key changes that characterise autism, including the functional connectivity and survival patterns of neurones, the patterns of gliosis and inflammation and the composition of the microbiome. We highlight the idea that photobiomodulation may form an ideal treatment option for autism, one that is certainly worthy of further investigation.

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10. Jabarin R, Netser S, Wagner S. Beyond the three-chamber test: toward a multimodal and objective assessment of social behavior in rodents. Molecular autism. 2022; 13(1): 41.

MAIN: In recent years, substantial advances in social neuroscience have been realized, including the generation of numerous rodent models of autism spectrum disorder. Still, it can be argued that those methods currently being used to analyze animal social behavior create a bottleneck that significantly slows down progress in this field. Indeed, the bulk of research still relies on a small number of simple behavioral paradigms, the results of which are assessed without considering behavioral dynamics. Moreover, only few variables are examined in each paradigm, thus overlooking a significant portion of the complexity that characterizes social interaction between two conspecifics, subsequently hindering our understanding of the neural mechanisms governing different aspects of social behavior. We further demonstrate these constraints by discussing the most commonly used paradigm for assessing rodent social behavior, the three-chamber test. We also point to the fact that although emotions greatly influence human social behavior, we lack reliable means for assessing the emotional state of animals during social tasks. As such, we also discuss current evidence supporting the existence of pro-social emotions and emotional cognition in animal models. We further suggest that adequate social behavior analysis requires a novel multimodal approach that employs automated and simultaneous measurements of multiple behavioral and physiological variables at high temporal resolution in socially interacting animals. We accordingly describe several computerized systems and computational tools for acquiring and analyzing such measurements. Finally, we address several behavioral and physiological variables that can be used to assess socio-emotional states in animal models and thus elucidate intricacies of social behavior so as to attain deeper insight into the brain mechanisms that mediate such behaviors. CONCLUSIONS: In summary, we suggest that combining automated multimodal measurements with machine-learning algorithms will help define socio-emotional states and determine their dynamics during various types of social tasks, thus enabling a more thorough understanding of the complexity of social behavior.

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11. Lyons-Warren AM, Wangler MF, Wan YW. Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder. International journal of molecular sciences. 2022; 23(21).

Autism spectrum disorder is a common, heterogeneous neurodevelopmental disorder lacking targeted treatments. Additional features include restricted, repetitive patterns of behaviors and differences in sensory processing. We hypothesized that detailed sensory features including modality specific hyper- and hypo-sensitivity could be used to identify clinically recognizable subgroups with unique underlying gene variants. Participants included 378 individuals with a clinical diagnosis of autism spectrum disorder who contributed Short Sensory Profile data assessing the frequency of sensory behaviors and whole genome sequencing results to the Autism Speaks’ MSSNG database. Sensory phenotypes in this cohort were not randomly distributed with 10 patterns describing 43% (162/378) of participants. Cross comparison of two independent cluster analyses on sensory responses identified six distinct sensory-based subgroups. We then characterized subgroups by calculating the percent of patients in each subgroup who had variants with a Combined Annotation Dependent Depletion (CADD) score of 15 or greater in each of 24,896 genes. Each subgroup exhibited a unique pattern of genes with a high frequency of variants. These results support the use of sensory features to identify autism spectrum disorder subgroups with shared genetic variants.

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12. Martini MI, Kuja-Halkola R, Butwicka A, Du Rietz E, D’Onofrio BM, Happé F, Kanina A, Larsson H, Lundström S, Martin J, Rosenqvist MA, Lichtenstein P, Taylor MJ. Sex Differences in Mental Health Problems and Psychiatric Hospitalization in Autistic Young Adults. JAMA psychiatry. 2022.

IMPORTANCE: Psychiatric disorders are common among autistic children and adults. Little is known about sex differences in psychiatric disorders and hospitalization in early adulthood. OBJECTIVE: To examine sex differences in psychiatric diagnoses and hospitalizations in autistic compared with nonautistic young adults. DESIGN, SETTING, AND PARTICIPANTS: This population-based cohort study assessed all individuals born in Sweden between 1985 and 1997. A total of 1 335 753 individuals, including 20 841 autistic individuals (7129 [34.2%] female individuals), were followed up from age 16 through 24 years between 2001 and 2013. Analysis took place between June 2021 and August 2022. EXPOSURES: Autism was defined as having received at least 1 clinical diagnosis of autism based on the International Classification of Diseases. MAIN OUTCOMES AND MEASURES: The cumulative incidence of 11 psychiatric diagnoses up until age 25 years was estimated, and birth year-standardized risk difference was used to compare autistic female and male individuals directly. Sex-specific birth year-adjusted hazard ratios (HRs) with 95% CIs were calculated using Cox regression. Analyses were repeated for inpatient diagnoses to assess psychiatric hospitalization. RESULTS: Of 1 335 753 individuals included in this study, 650 314 (48.7%) were assigned female at birth. Autism was clinically diagnosed in 20 841 individuals (1.6%; 7129 [34.2%] female) with a mean (SD) age of 16.1 (5.1) years (17.0 [4.8] years in female individuals and 15.7 [5.2] years in male individuals) for the first recorded autism diagnosis. For most disorders, autistic female individuals were at higher risk for psychiatric diagnoses and hospitalizations. By age 25 years, 77 of 100 autistic female individuals and 62 of 100 autistic male individuals received at least 1 psychiatric diagnosis. Statistically significant standardized risk differences were observed between autistic female and male individuals for any psychiatric disorder (-0.18; 95% CI, -0.26 to -0.10) and specifically for anxiety, depressive, and sleep disorders. Risk differences were larger among autistic than nonautistic individuals. Compared with nonautistic same-sex individuals, autistic female individuals (HR range [95% CI], 3.17 [2.50-4.04.]-20.78 [18.48-23.37]) and male individuals (HR range [95% CI], 2.98 [2.75-3.23]-18.52 [17.07-20.08]) were both at increased risk for all psychiatric diagnoses. Any psychiatric hospitalization was statistically significantly more common in autistic female individuals (32 of 100) compared with autistic male individuals (19 of 100). However, both autistic female and male individuals had a higher relative risk for psychiatric hospitalization compared with nonautistic female and male individuals for all disorders (female individuals: HR range [95% CI], 5.55 [4.63-6.66]-26.30 [21.50-32.16]; male individuals: HR range [95% CI], 3.79 [3.22-4.45]-29.36 [24.04-35.87]). CONCLUSIONS AND RELEVANCE: These findings highlight the need for profound mental health services among autistic young adults. Autistic female individuals, who experience more psychiatric difficulties at different levels of care, require increased clinical surveillance and support.

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13. Mihalache D, Sokol-Hessner P, Feng H, Askari F, Reyes N, Moody EJ, Mahoor MH, Sweeny TD. Gaze perception from head and pupil rotations in 2D and 3D: Typical development and the impact of autism spectrum disorder. PloS one. 2022; 17(10): e0275281.

The study of gaze perception has largely focused on a single cue (the eyes) in two-dimensional settings. While this literature suggests that 2D gaze perception is shaped by atypical development, as in Autism Spectrum Disorder (ASD), gaze perception is in reality contextually-sensitive, perceived as an emergent feature conveyed by the rotation of the pupils and head. We examined gaze perception in this integrative context, across development, among children and adolescents developing typically or with ASD with both 2D and 3D stimuli. We found that both groups utilized head and pupil rotations to judge gaze on a 2D face. But when evaluating the gaze of a physically-present, 3D robot, the same ASD observers used eye cues less than their typically-developing peers. This demonstrates that emergent gaze perception is a slowly developing process that is surprisingly intact, albeit weakened in ASD, and illustrates how new technology can bridge visual and clinical science.

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14. Miller V, Leigers K, Howell D, Kitzman P, Ault M. Using Social Network Analysis to Measure Social Inclusion for Individuals with Intellectual and Developmental Disabilities. Physical & occupational therapy in pediatrics. 2022: 1-15.

The aim of this perspective is to describe the theory and practical steps of using principles of social network analysis to help measure the social inclusion of individuals with intellectual and developmental disabilities (IDD). Social inclusion for those with disabilities has become an important area of focus of rehabilitative professionals in the past decade. Social inclusion is comprised of the domains participation and social interaction. Decreased social inclusion can negatively impact quality of life and health. Individuals with IDD continue to experience barriers to social inclusion such as limited opportunities to socialize and participate in community groups, physical barriers, and the lack of available valued social roles. There are limited methods for measuring social inclusion for individuals with IDD. Social network analysis is one way to analyze and understand social relationships to better understand the social inclusion of individuals with IDD. Providing a way to measure social inclusion may help answer questions about the effectiveness of interventions, ultimately leading to increased social inclusion for individuals with IDD.

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15. Naguy A, Pridmore S, Jamali MA, Hasan AE, Alamiri B. Agomelatine Monotherapy for Autism-A Case Report. Psychopharmacology bulletin. 2022; 52(4): 100-3.

ASD is commonly associated with a host of challenging behaviours. Pharmacotherapy is indicated if psycho-social and educational interventions fail. Atypical antipsychotics have the strongest evidence-base so far, with both risperidone and aripiprazole are FDA-approved. Unfortunately, their use is fraught with metabolic and neuro-hormonal side effects. Here, authors report on a case of ASD/mild ID with behavioural dyscontrol that failed multiple psychotropic trials and ultimately responded favourably to agomelatine monotherapy. This was achieved with excellent tolerability. This might open new venues in such complicated cases.

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16. Neuhaus E, Osuna A, Tagavi DM, Shah-Hosseini S, Simmons S, Gerdts J, Thompson AD. Clinical Characteristics of Youth with Autism or Developmental Disability during Inpatient Psychiatric Admission. Journal of clinical medicine. 2022; 11(21).

Children with autism spectrum disorder and developmental disabilities (ASD/DD) often experience severe co-occurring psychological and behavioral challenges, which can warrant inpatient psychiatric care. However, very little is known about the characteristics and clinical care of children with ASD/DD within the context of inpatient psychiatric settings. In this paper, we describe factors unique to inpatients with ASD or DD, by drawing on electronic health records from over 2300 children and adolescents ages 4-17 years admitted to a pediatric psychiatric inpatient unit over a 3-year period. Patients with ASD/DD accounted for approximately 16% of inpatients and 21% of admissions, were younger, more likely to be readmitted, more likely to be male, and more likely to have Medicaid insurance, as compared to patients without ASD/DD. Clinically, those with ASD/DD more frequently had externalizing concerns documented in their records, in contrast to more frequent internalizing concerns among other patients. Within the ASD/DD group, we identified effects of patient age, sex, and race/ethnicity on multiple dimensions of clinical care, including length of stay, use of physical restraint, and patterns of medication use. Results suggest the need for psychiatric screening tools that are appropriate for ASD/DD populations, and intentional integration of anti-racist practices into inpatient care, particularly with regard to use of physical restraint among youth.

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17. Petroni V, Subashi E, Premoli M, Memo M, Lemaire V, Pietropaolo S. Long-term behavioral effects of prenatal stress in the Fmr1-knock-out mouse model for fragile X syndrome. Frontiers in cellular neuroscience. 2022; 16: 917183.

Fragile X syndrome (FXS) is a major neurodevelopmental disorder and the most common monogenic cause of autism spectrum disorder (ASD). FXS is caused by a mutation in the X-linked FMR1 gene leading to the absence of the FMRP protein, inducing several behavioral deficits, including motor, emotional, cognitive, and social abnormalities. Beside its clear genetic origins, FXS can be modulated by environmental factors, e.g., stress exposure: indeed the behavioral phenotype of FXS, as well as of ASD patients can be exacerbated by the repeated experience of stressful events, especially early in life. Here we investigated the long-term effects of prenatal exposure to unpredictable chronic stress on the behavioral phenotype of the Fmr1-knock-out (KO) mouse model for FXS and ASD. Mice were tested for FXS- and ASD-relevant behaviors first at adulthood (3 months) and then at aging (18 months), in order to assess the persistence and the potential time-related progression of the stress effects. Stress induced the selective emergence of behavioral deficits in Fmr1-KO mice that were evident in spatial memory only at aging. Stress also exerted several age-specific behavioral effects in mice of both genotypes: at adulthood it enhanced anxiety levels and reduced social interaction, while at aging it enhanced locomotor activity and reduced the complexity of ultrasonic calls. Our findings underline the relevance of gene-environment interactions in mouse models of neurodevelopmental syndromes and highlight the long-term behavioral impact of prenatal stress in laboratory mice.

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18. Santini A, Bullen JC, Zajic MC, McIntyre N, Mundy P. Brief Report: The Factors Associated with Social Cognition in Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

This study examined whether school-aged autistic children without co-occurring intellectual disabilities (autistic(WoID)) show similar difficulty on Theory of Mind (ToM) tasks as young autistic(WoID) children and if these difficulties are related to problems in domain-general aspects of cognition. Eighty-one autistic(WoID) and 44 neurotypical (NT) children between the ages of 8-16 years participated in this study and were matched on verbal IQ. ToM performance significantly and independently differentiated many, but not all, autistic(WoID) and NT participants above and beyond the effects of working memory and inferential thinking. However, these cognitive variables did not fully explain difficulties with social cognition in autistic(WoID) children. These findings have implications for understanding autism, the factors that may impact intervention for social cognition in autism, and the factors that impact the education of autistic children who may struggle in general education classrooms.

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19. Scarselli V, Martucci M, Novelli M, Galosi S, Romani M, Sogos C. Diagnostic and Therapeutic Challenges of Comorbid ASD, ADHD and Psychosis: A Case Report. Behavioral sciences (Basel, Switzerland). 2022; 12(10).

Autism Spectrum Disorder (ASD) and attention deficit hyperactivity disorder (ADHD) comorbidity is common in clinical practice and it seems to be related to shared etiological mechanisms and genetic susceptibility. Moreover, occurrence of psychosis can further complicate these complex clinical pictures. Here, we discuss the case of a nine-years-old boy presenting with an episode of abnormal sustained posture of the upper limbs, resembling dystonia, at the age of 3. At this time, auditory and visual hallucinations, as well as obsessive thoughts and attentional lability were also present and a diagnosis of « Early onset psychosis » was initially made. Due to the worsening of clinical picture, several hospitalizations were necessary and pharmacological treatment with carbamazepine, risperidone and aripiprazole was carried out. Extensive clinic evaluation revealed a past medical and personal history of toe walking, weak social skills and stereotyped behavior observed and ADOS-2 Module 2 administration revealed severe Autism scores. Moreover, signs of attention and hyperactivity were consistent with ADHD diagnosis. This work highlights the importance of a complete diagnostic assessment in patients with complex presentation, suggesting the possible overlap diagnosis of ADHD and Autism even in presence of psychotic-like symptoms.

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20. Stark C, Groves NB, Kofler MJ. Is reduced social competence a mechanism linking elevated autism spectrum symptoms with increased risk for social anxiety?. The British journal of clinical psychology. 2022.

OBJECTIVES: Approximately 50% of children with autism spectrum disorder (ASD) develop comorbid social anxiety disorder, and this comorbidity predicts poorer treatment outcomes than either syndrome alone. ASD and social anxiety are both associated with reduced social competence as evidenced by difficulties implementing fundamental social skills for successful social interactions, but it remains unclear whether reduced social competence reflects a mechanism that explains the increased risk for social anxiety associated with elevated autism spectrum symptoms. DESIGN/METHODS: To address this gap in the literature, the current study combined multi-informant measures (child, parent and teacher report) with a sample of 194 children with and without psychiatric disorders (ages 8-13; 68 girls; 69% White/Non-Hispanic). Autism spectrum traits, social competence and social anxiety symptoms were measured continuously. RESULTS: Bias-corrected, bootstrapped conditional effects modelling indicated that elevated parent-reported autism spectrum symptoms predicted reduced teacher-perceived social competence (β = -.21) and elevated child self-reported social anxiety (β = .17); reduced social competence accounted for 20% of the autism/social anxiety link (indirect pathway β = .04, ER = .20), and reduced social competence also predicted higher social anxiety independent of autism symptoms (β = -.16; all 95% CIs exclude 0.0, indicating significant effects). Exploratory analyses suggested that these findings were driven primarily by autism spectrum social communication difficulties rather than restricted/repetitive behaviours/interests. CONCLUSIONS: The current findings are consistent with prior work implicating reduced social competence as a risk factor for the development of social anxiety among children with ASD, and extend prior work by demonstrating that this link is robust to control for mono-informant/mono-measure bias, age, sex, SES, majority/minoritized race/ethnicity status, clinical comorbidities, and item overlap across measures.

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21. Zhang X, Smits M, Curfs L, Spruyt K. An investigation of the sleep macrostructure of girls with Rett syndrome. Sleep medicine. 2022; 101: 77-86.

OBJECTIVE/BACKGROUND: Methyl-CpG-binding protein 2 (MeCP2) is of utmost importance in neuronal function. We aim to characterize phenotypic traits in the sleep of individuals with Rett Syndrome (RTT, OMIM # 312750), a rare disorder predominantly caused by mutations of the MECP2 gene. PATIENTS/METHODS: An overnight polysomnographic recording was performed. Outcomes investigated were parameters of nocturnal sleep macrostructure, and sample stratification per genetic and clinical characteristics, and six key features of clinical severity was applied. RESULTS: The sleep of our 21 RTT female subjects with a mutant MECP2 gene, aged 8.8 ± 5.4 years, showed no significant differences within strata. However, compared to a normative dataset, we found longer duration of wake time after sleep onset and total sleep time (TST) but shorter sleep onset latency, in RTT. Regarding the proportion of sleep stages per TST, higher stage N3 (%) with lower stage N2 (%) and REM (%) were generally seen. Such abnormalities became more uniformly expressed at the severe level of clinical features, particularly for hand functioning and walking. CONCLUSIONS: RTT girls with MECP2 mutations in our study demonstrated an increased deep sleep and reduced rapid eye movement sleep proportion, which is mostly allied with their hand dysfunction severity. Poor sleep-on/off switching in RTT since embryogenesis is possibly linked to (psycho)motor impairment in the cases with MECP2 mutations.

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