1. Deosthale P, Balanta-Melo J, Creecy A, Liu C, Marcial A, Morales L, Cridlin J, Robertson S, Okpara C, Sanchez DJ, Ayoubi M, Lugo JN, Hernandez CJ, Wallace JM, Plotkin LI. Fragile X Messenger Ribonucleoprotein 1 (FMR1), a novel inhibitor of osteoblast/osteocyte differentiation, regulates bone formation, mass, and strength in young and aged male and female mice. Bone research. 2023; 11(1): 25.

Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild increase in cortical and cancellous femoral bone mass. However, consequences of absence of FMR1 in bone of young/aged male/female mice and the cellular basis of the skeletal phenotype remain unknown. We found that absence of FMR1 results in improved bone properties with higher bone mineral density in both sexes and in 2- and 9-mo mice. The cancellous bone mass is higher only in females, whereas, cortical bone mass is higher in 2- and 9-mo males, but higher in 2- and lower in 9-mo female FMR1-knockout mice. Furthermore, male bones show higher biomechanical properties at 2mo, and females at both ages. Absence of FMR1 increases osteoblast/mineralization/bone formation and osteocyte dendricity/gene expression in vivo/ex vivo/in vitro, without affecting osteoclasts in vivo/ex vivo. Thus, FMR1 is a novel osteoblast/osteocyte differentiation inhibitor, and its absence leads to age-, site- and sex-dependent higher bone mass/strength.

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2. Filgueira LMA, Brilhante AVM, Sá AR, Colares MSF. Development of a participatory research strategy involving autistic people with different levels of support needs. Ciencia & saude coletiva. 2023; 28(5): 1501-12.

This article describes the development of a participatory methodological study involving autistic people with varying levels of support needs in the design and validation of an instrument devised to assess the effects of social isolation during the COVID-19 pandemic and the strategies used to cope with the crisis. The development of the instrument involved the following stages: Definition of the domains to be assessed (researchers in consultation with experts and autistic people); Design of the instrument (researchers with the co-participation of autistic people); Validation of the instrument (by experts and autistic people, led by the researchers); and Final approval of the instrument (co-participation between researchers and autistic people). In addition to making the instrument more robust, the participation of autistic people in the design and application of the instrument reinforced the importance of strategies to include autistic people in research as both study participants and co-researchers.

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3. Gentles SJ, Ng-Cordell EC, Hunsche MC, McVey AJ, Bednar ED, DeGroote MG, Chen YJ, Duku E, Kerns CM, Banfield L, Szatmari P, Georgiades S. Trajectory research in children with an autism diagnosis: A scoping review. Autism : the international journal of research and practice. 2023: 13623613231170280.

The types of outcomes studied in children on the autism spectrum include clinical characteristics, such as social functioning, communication, language, or autism symptoms. Research that measures these outcomes at multiple timepoints is useful to improve our understanding of what to expect as children develop. In trajectory studies, researchers assess outcomes at three or more timepoints. This method has advantages over two-timepoint studies because it allows researchers to describe changes in the speed of development, such as accelerations, plateaus, or slowdowns. We identified and reviewed 103 published trajectory studies in children (to age 18 years) with an autism diagnosis. Importantly, we did not include studies of treatments or their effects, nor did we summarize the results of studies. Instead, this review summarizes the characteristics of the available published research, including the methods used, the many different outcomes that have been studied over time and the ages over which they have been studied. This summary may be of interest to autistic people and caregivers (parents) who want to know about the existence of research that provides answers about what to expect during an autistic child’s development. We have recommended that future trajectory research efforts try to make up for the lack of studies from low- and middle-income countries; that more attention is given to the following outcomes that are meaningful to caregivers and autistic people; and to try to fill in the age gaps where more outcome-specific data are needed.

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4. Hooker JM. Autism: Embracing Awareness, Appreciation, Complexities, and Paradox. ACS chemical neuroscience. 2023; 14(10): 1695-6.

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5. Jenner L, Richards C, Howard R, Moss J. Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support. Current developmental disorders reports. 2023; 10(2): 132-46.

PURPOSE OF REVIEW: Elevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review summarises recent evidence on the behavioural heterogeneity of autism in the following syndromes: Fragile X, Cornelia de Lange, Williams, Prader-Willi, Angelman, Down, Smith-Magenis, and tuberous sclerosis complex. Key considerations for assessment and support are discussed. RECENT FINDINGS: The profile and developmental trajectory of autism-related behaviour in these syndromes indicate some degree of syndrome specificity which may interact with broader behavioural phenotypes (e.g. hypersociability), intellectual disability, and mental health (e.g. anxiety). Genetic subtype and co-occurring epilepsy within syndromes contribute to increased significance of autism characteristics. Autism-related strengths and challenges are likely to be overlooked or misunderstood using existing screening/diagnostic tools and criteria, which lack sensitivity and specificity within these populations. SUMMARY: Autism characteristics are highly heterogeneous across genetic syndromes and often distinguishable from non-syndromic autism. Autism diagnostic assessment practices in this population should be tailored to specific syndromes. Service provisions must begin to prioritise needs-led support.

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6. Kawahara M, Kagitani-Shimono K, Kato-Nishimura K, Ohki N, Tachibana M, Kato T, Taniike M, Mohri I. A preliminary study of sleep spindles across non-rapid eye movement sleep stages in children with autism spectrum disorder. Sleep advances : a journal of the Sleep Research Society. 2022; 3(1): zpac037.

STUDY OBJECTIVES: Sleep spindles play a crucial role in multiple neuronal network functions. Initiation and termination of spindles are regulated by the thalamic reticular nucleus and thalamocortical network, and the spindle can be an index for brain organization. We conducted a preliminary study of the parameters of sleep spindles, focusing on sleep-stage temporal distribution in children with autism spectrum disorder (ASD) with normal intelligence/developmental quotients. METHODS: We performed overnight polysomnography in 14 children with ASD (4-10 years) with normal full-scale intelligence quotient/developmental quotient (≥75) and 14 community samples (CS) of children. Sleep stages were scored according to the Rechtschaffen and Kales criteria. Spindle parameters were quantified and compared between these groups and the identified subgroups. RESULTS: Sleep parameters did not differ between the ASD and CS groups, except for a higher rate of rapid eye movement (REM) sleep duration in ASD. Spindle parameters did not significantly differ between the groups, but spindle density was distributed in a broader range in the ASD group. Five children with ASD had a higher spindle density in stage 3 than in stage 2. The ratio of spindle density in stage 3 to that in stage 2 (stage 3/2 ratio) was significantly higher in ASD than in CS cases. CONCLUSIONS: The lower spindle density in stage 2 and relatively higher density in stage 3 in children with ASD may represent an abnormal generation of spindles due to insufficient maturation of the thalamic reticular nucleus and thalamocortical network.

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7. Kois LE, Cox J, Simmons GL, White SW, Scott-Adams V. University-Community Mental Health Training Collaboration: Teaching Criminal Legal Stakeholders About Autism. Psychiatric services (Washington, DC). 2023: appips20220254.

Individuals with autism spectrum disorder (ASD) are disproportionately represented in the criminal legal system, yet ASD-specific training is rarely provided to frontline clinical staff or legal professionals. This column describes a collaboration between university researchers and a state mental health department to promote ASD awareness, knowledge, and intervention skills among clinical and legal professionals working with autistic individuals with criminal legal involvement. Descriptions of how specific needs were identified, how tailored educational workshops were developed, and how workshop efficacy was assessed are provided. Lessons learned and recommendations for researchers and health care systems interested in similar collaborations are offered.

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8. Loeper T, Schwartz AE. ‘Being a part of something’: Experiences and perceived benefits of young adult peer mentors with intellectual/developmental disabilities and co-occurring mental health conditions. Journal of applied research in intellectual disabilities : JARID. 2023.

BACKGROUND: Peer-provided services are a common model for addressing mental health concerns. Peer providers report a range of benefits and challenges associated with their role. However, there is little information about the experiences of peer providers with intellectual/developmental disabilities. AIM: To explore the experiences of young adult peer-providers with intellectual/developmental disabilities in the context of a mental health intervention. METHODS: We conducted interviews with four young adults with intellectual/developmental disabilities and their parents and teachers to understand their experiences providing a peer mentoring mental health intervention. RESULTS: Young adult peer mentors perceived themselves as responsible for maintaining the mentoring relationship, delivering the intervention and acting as helpers and independent professionals. The experiences of young adult peer mentors were driven by the temporal, institutional and social contexts of their work. Peer mentoring was an enjoyable, social activity. Mentors, parents and teachers emphasised how taking on the peer mentoring role during the transition to adulthood and within the capital-rich university context led to a sense of pride and professional development. Further, these contexts may have led mentors to emphasise their intervention-delivery, helper and professional roles over relationship maintenance. DISCUSSION & CONCLUSION: Context may shape the perceived roles and benefits for young adult peer mentors with intellectual/developmental disabilities.

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9. Martinez-Cayuelas E, Merino-Andreu M, Losada-Del Pozo R, Gavela-Pérez T, Garcés C, Soriano-Guillén L. Response to Melatonin Treatment in Children With Autism spectrum Disorder and Relationship to Sleep Parameters and Melatonin Levels. Journal of child neurology. 2023: 8830738231173606.

Melatonin is one of the most used pharmacologic treatments for sleep problems in autism spectrum disorder, though its relationship with circadian and sleep parameters is still not well stablished. A naturalistic study was conducted in children with autism spectrum disorder, previously drug-naïve, before and after treatment with immediate-release melatonin. Circadian rhythms and sleep parameters were studied using an ambulatory circadian-monitoring device, and saliva samples were collected enabling determination of dim light melatonin onset. Twenty-six children with autism spectrum disorder (age 10.50  ±  2.91) were included. Immediate-release melatonin modified circadian rhythm as indicated by wrist skin temperature, showing an increase at night. A positive correlation was found between time of peak melatonin and sleep efficiency improvement values. Sleep-onset latency and efficiency improved with immediate-release melatonin. Immediate-release melatonin could be an effective treatment to improve sleep onset and restore a typical pattern of wrist temperature, which appears to be lost in autism spectrum disorder.

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10. Valicenti-McDermott M, Schlussel D, Hurley C, Rivelis E, Bernstein C, Cardin MJ. Comorbidities in School-Age Children and Adolescents with Autism in an Ethnically Diverse Population: Brief Report. Journal of child and adolescent psychopharmacology. 2023.

Objectives: (1) To examine psychiatric and developmental comorbidities in school-age children and adolescents with Autism in a university-affiliated urban developmental center that serves children with developmental disabilities, and (2) to compare comorbidities by age groups. Methods: Review of all school-age children and adolescents evaluated and diagnosed with autism from 1/2019 to 1/2022. Data included: Demographics (age, gender, race/ethnic group, bilingual English/Spanish households) and other developmental and psychiatric diagnoses besides autism, including language disorder, specific learning disorders (LD), attention-deficit/hyperactivity disorder (ADHD), intellectual disabilities (ID), anxiety disorders (i.e., generalized anxiety disorder, anxiety disorder, unspecified, social anxiety disorder), and depressive disorders (i.e., major depressive disorder, depressive disorder, unspecified). Statistics included chi-square, and nonparametric tests, comorbidities were compared between school-age children and adolescents. Results: Of all children evaluated in that period (n = 599), 119 (20%) were diagnosed with autism, 97 (81%) boys, age 11.8 ± 3 years old, 46 (39%) bilingual English/Spanish households; 65 (55%) were school-age children and 54 (45%) were adolescents (age = 12-18). Of the 119, 115 (96%) presented with one or more co-occurring conditions, including language disorder in 101 (85%), LD in 23 (19%), ADHD in 50 (42%), and ID in 30 (25%). Psychiatric co-occurring conditions included anxiety disorders in 24 (20%) and depressive disorders in 8 (6%). School-age children with autism were more likely to be diagnosed with ADHD combined type (42% vs. 22%, p = 0.04) and language disorders (91% vs. 73%, p = 0.04), whereas adolescents with autism were more likely to be diagnosed with depressive disorders (13% vs. 1%, p = 0.03), with no other differences between the groups. Conclusion: In this urban, ethnically diverse group of children with autism, the vast majority presented with one or more comorbid diagnoses. School-age children were more likely to be diagnosed with language disorder and ADHD, while adolescents were more likely to be diagnosed with depression. Early detection and treatment of co-occurring conditions in autism are necessary.

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11. Warreman EB, Ester WA, Geurts HM, Vermeiren RR, Nooteboom LA. How do primary care providers and autistic adults want to improve their primary care? A Delphi-study. Autism : the international journal of research and practice. 2023: 13623613231172865.

Autistic adults often encounter different types of healthcare barriers. Because autistic adults also have an increased risk for health problems, the aim of this study was to evaluate barriers and to explore how primary care providers and autistic adults want to improve their primary healthcare. In this co-created study, semi-structured interviews with three autistic adults, two parents of autistic children and six care providers were performed to evaluate barriers in Dutch healthcare. Next, in the survey-study (using the Delphi-method including controlled feedback in three consecutive questionnaires), 21 autistic adults and 20 primary care providers rated the impact of barriers and the usefulness and feasibility of recommendations to improve primary healthcare. In the interviews, 20 barriers in Dutch healthcare for autistic people were found. In the survey-study, the primary care providers rated the negative impact of most barriers lower than the autistic adults. This survey-study resulted in 22 recommendations to improve primary healthcare focused on: primary care providers (including education in collaboration with autistic people), autistic adults (including improvement of preparation for general practitioner-appointments) and organization of general practice (including improvement of continuity in care). In conclusion, primary care providers seem to view healthcare barriers as less impactful than autistic adults. In this co-created study, recommendations to improve primary healthcare for autistic adults were identified, based on the needs of autistic adults and primary care providers. These recommendations provide a basis for primary care providers, autistic adults and their support network to start conversations about, for example, strategies to improve primary care providers’ knowledge, autistic adults’ preparation for a general practitioner-appointment and organization of primary care.

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12. Zerihun T, Kinfe M, Koly KN, Abdurahman R, Girma F, Hanlon C, de Vries PJ, Hoekstra RA. Non-specialist delivery of the WHO Caregiver Skills Training Programme for children with developmental disabilities: Stakeholder perspectives about acceptability and feasibility in rural Ethiopia. Autism : the international journal of research and practice. 2023: 13623613231162155.

Children with developmental disabilities including autism who live in low- and middle-income countries have very limited access to care and intervention. The World Health Organization initiated the caregiver skills training programme to support families with children with developmental disabilities. In Ethiopia, contextual factors such as poverty, low literacy and stigma may affect the success of the programme. In this study, we aimed to find out if the caregiver skills training programme is feasible to deliver in rural Ethiopia and acceptable to caregivers and programme facilitators. We trained non-specialist providers to facilitate the programme. Caregivers and non-specialist facilitators were asked about their experiences in interviews and group discussions. Caregivers found the programme relevant to their lives and reported benefits of participation. Facilitators highlighted the skills they had acquired but also emphasised the importance of support from supervisors during the programme. They described that some caregiver skills training programme topics were difficult to teach caregivers. In particular, the idea of play between caregiver and child was unfamiliar to many caregivers. Lack of available toys made it difficult to practise some of the caregiver skills training programme exercises. Participants indicated that the home visits and group training programme components of the caregiver skills training were acceptable and feasible, but there were some practical barriers, such as transportation issues and lack of time for homework practice. These findings may have importance to non-specialist delivery of the caregiver skills training programme in other low-income countries.

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