1. Alnahdi G. Enhancing the quality of life of mothers of children with intellectual disabilities or Autism: The role of disability-specific support. Res Dev Disabil;2024 (Jun 12);151:104780.

BACKGROUND: A holistic approach considering the physical, emotional, and social dimensions of living with a disability is essential for developing effective support systems, policies, and interventions. The quality of life of individuals with disabilities is interrelated with the well-being of their families making family quality of life (FQOL) a crucial aspect of study. AIMS: This study explores the effects of support on FQOL among Saudi Arabian families with children diagnosed with intellectual disabilities or autism, from the perspectives of 269 mothers. METHODS AND PROCEDURES: Through a survey, we examined how disability-related support correlates with FQOL, emphasizing the need for personalized support systems. We employed multiple regression analysis to assess the impact of various factors on FQOL, including the type and severity of disability, family income, and marital status. OUTCOMES AND RESULTS: The findings revealed that disability-related support is a significant predictor of FQOL, highlighting its critical role in enhancing the well-being of families. CONCLUSIONS AND IMPLICATIONS: This study contributes to the scarce regional literature, and underscores the importance of inclusive social policies tailored to the diverse needs of families with disabilities.

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2. Brekke I, Alecu A, Ohrazda C, Lee J. Implications of Childhood Autism Spectrum Disorder for Maternal Employment: United States vs. Norway. Matern Child Health J;2024 (Jun 12)

OBJECTIVES: A country’s social welfare system may play an important role in maternal employment. This study compared the labor market participation of mothers of children within the United States (U.S.) and Norway to examine whether the child’s age and severity of the ASD affected mothers’ employment differently between the two countries. METHODS: The 2019 National Survey of Children’s Health was used for the U.S. analysis, and the 2019 administrative register data were used for the Norwegian analysis. A logit model was used to analyze the impact of a child’s age and ASD severity on maternal employment in the U.S. and Norway. We presented the results as average marginal effects obtained from the logistic regression analyses. RESULTS: After adjusting for mothers’ sociodemographic variables and the child’s age, U.S. mothers of children with mild ASD and moderate/severe ASD had respectively 12 and 25% points lower probability of being employed than U.S. mothers of children without special health care needs. In Norway, mothers of children with moderate/severe ASD had a 13% points lower probability of employment than mothers without special health care needs. The probability of being employed for mothers caring for a child with ASD was significantly greater as the child got older in both countries. CONCLUSIONS FOR PRACTICE: The employment gap was more substantial in the U.S. than in Norway. A general high employment participation rate among women and an elaborated welfare state and policy package seem to benefit employment among mothers of children with ASD in Norway.

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3. Carpita B, Bonelli C, Giovannoni F, Parri F, Gambini M, Nardi B, Amatori G, Cremone IM, Pini S, Dell’Osso L. Case report: hikikomori syndrome in Italy and its link with autistic traits and internet gaming disorder. Front Psychiatry;2024;15:1378572.

During the last few decades, a growing field of literature is focusing on hikikomori, a phenomenon described as a form of pathological social withdrawal or social isolation that lasts for more than 6 months leading to significant functional impairment and/or distress. Despite initially considered a culture-bound syndrome, hikikomori syndrome later gained a wider recognition in different countries, ranging from an attempt to take refuge in an idealistic world, when society success’ standards are not reached, to a maladaptive coping strategy complicating several psychiatric illnesses such as anxiety disorders, major depression, internet addiction, internet gaming disorder (IGD) and autism spectrum disorder (ASD). In this framework, difficulties in social interaction, in problem solving strategies and socio-emotional reciprocity, may lead to social withdrawal and hikikomori-like behaviors. In this work, we described two cases of patients where the presence of underlying autism spectrum may have represented a sign of vulnerability towards the development of a possible full-blown case of hikikomori with IGD.

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4. Chung M, Imanaka K, Huang Z, Watarai A, Wang MY, Tao K, Ejima H, Aida T, Feng G, Okuyama T. Conditional knockout of Shank3 in the ventral CA1 by quantitative in vivo genome-editing impairs social memory in mice. Nat Commun;2024 (Jun 12);15(1):4531.

Individuals with autism spectrum disorder (ASD) have a higher prevalence of social memory impairment. A series of our previous studies revealed that hippocampal ventral CA1 (vCA1) neurons possess social memory engram and that the neurophysiological representation of social memory in the vCA1 neurons is disrupted in ASD-associated Shank3 knockout mice. However, whether the dysfunction of Shank3 in vCA1 causes the social memory impairment observed in ASD remains unclear. In this study, we found that vCA1-specific Shank3 conditional knockout (cKO) by the adeno-associated virus (AAV)- or specialized extracellular vesicle (EV)- mediated in vivo gene editing was sufficient to recapitulate the social memory impairment in male mice. Furthermore, the utilization of EV-mediated Shank3-cKO allowed us to quantitatively examine the role of Shank3 in social memory. Our results suggested that there is a certain threshold for the proportion of Shank3-cKO neurons required for social memory disruption. Thus, our study provides insight into the population coding of social memory in vCA1, as well as the pathological mechanisms underlying social memory impairment in ASD.

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5. Dong H, Ma X, Chen Z, Zhang H, Song J, Jin Y, Li M, Lu M, He R, Zhang Y, Yang Y. Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency. BMC Med Genomics;2024 (Jun 11);17(1):158.

BACKGROUND AND AIMS: To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. MATERIALS AND METHODS: This retrospective study evaluated the findings in 13 Chinese patients with SSADH deficiency admitted to the Pediatric Department of Peking University First Hospital from September 2013 to September 2023. RESULTS: Thirteen patients (seven male and six female patients; two sibling sisters) had the symptoms aged from 1 month to 1 year. Their urine 4-hydroxybutyrate acid levels were elevated and were accompanied by mildly increased serum lactate levels. Brain magnetic resonance imaging (MRI) showed symmetric abnormal signals in both sides of the globus pallidus and other areas. All 13 patients had psychomotor retardation, with seven showing epileptic seizures. Among the 18 variants of the ALDH5A1 gene identified in these 13 patients, six were previously reported, while 12 were novel variants. Among the 12 novel variants, three (c.85_116del, c.206_222dup, c.762C > G) were pathogenic variants; five (c.427delA, c.515G > A, c.637C > T, c.755G > T, c.1274T > C) were likely pathogenic; and the remaining four (c.454G > C, c.479C > T, c.1480G > A, c.1501G > C) were variants of uncertain significance. The patients received drugs such as L-carnitine, vigabatrin, and taurine, along with symptomatic treatment. Their urine 4-hydroxybutyric acid levels showed variable degrees of reduction. CONCLUSIONS: A cohort of 13 cases with early-onset SSADH deficiency was analyzed. Onset of symptoms occurred from 1 month to 1 year of age. Twelve novel variants of the ALDH5A1 gene were identified.

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6. Grosman HE, Aragon-Guevara D, McQuaid GA, Wallace GL, Lee NR. Academic learning challenges and links to vocational outcomes in young autistic adults. Autism;2024 (Jun 12):13623613241255774.

Finding a job can be hard for autistic adults. No studies have been completed that look into whether having difficulties learning and troubles finding a job are related in this population. The current study did so by evaluating the Learning Needs Screening Tool, a measure of learning challenges used in vocational rehabilitation settings, or places meant to help people find work. A total of 401 autistic adults completed this study online. Specifically, the study evaluated (a) the characteristics of the Learning Needs Screening Tool, including the relationships between questions that ask about similar learning challenges, and (b) the ability of the measure to relate to real-world outcomes that are associated with learning difficulties, namely prior special education receipt and difficulties finding a job. Evaluation of the questions asked on the Learning Needs Screening Tool revealed that they were highly related and that learning difficulties fell into different categories. Fifty-six percent of the people in the study showed learning challenges on the measure. People who were identified as having learning difficulties on the Learning Needs Screening Tool had higher rates of receiving special education services in the past and lower rates of current employment. These results suggest that the Learning Needs Screening Tool may help to identify autistic job seekers who have learning difficulties and may have more challenges finding a job.

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7. Guan Q, Garg R, McCormack D, Lunsky Y, Tadrous M, Campbell T, Gomes T. Impact of COVID-19 on psychoactive medication use among individuals with intellectual and developmental disabilities in Ontario, Canada: A repeated cross-sectional study. Disabil Health J;2024 (Jun 12):101649.

BACKGROUND: Evidence for worsening mental health among individuals with intellectual and developmental disabilities (IDD) during COVID-19 sparked concerns for increased use of psychoactive medications. OBJECTIVE: To examine the impact of COVID-19 on psychoactive medication use and clinical monitoring among individuals with IDD in Ontario, Canada. METHODS: We conducted a repeated cross-sectional study among individuals with IDD and examined weekly trends for psychoactive medication dispensing and outpatient physician visits among those prescribed psychoactive medications between April 7, 2019, and March 25, 2023. We used interventional autoregressive integrated moving average models to determine the impact of the declaration of emergency for COVID-19 (March 17, 2020) on the aforementioned trends. RESULTS: The declaration of emergency for COVID-19 did not significantly impact psychoactive medication use among individuals with IDD. Provision of clinical monitoring remained relatively stable, apart from a short-term decline in the weekly rate of outpatient physician visits following the declaration of emergency for COVID-19 (step estimate: 21.26 per 1000 individuals [p < 0.01]; ramp estimate: 0.88 per 1000 individuals [p = 0.01]). When stratified by mode of delivery, there was a significant shift towards virtual care (step estimate: 78.80 per 1000 individuals; p < 0.01). The weekly rate of in-person physician visits gradually increased, returning to rates observed prior to the COVID-19 pandemic in January 2023. CONCLUSION: Although access to clinical care remained relatively stable, the shift towards virtual care may have negatively impacted those who encounter challenges communicating via virtual mediums. Future research is required to identify the support systems necessary for individuals with IDD during virtual health care interactions.

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8. Hocking MC, Albee MV, Kim M, Berman JI, Fisher MJ, Roberts TPL, Blaskey L. Social challenges, autism spectrum disorder, and attention deficit/hyperactivity disorder in youth with neurofibromatosis type I. Appl Neuropsychol Child;2024 (Jun 12):1-9.

OBJECTIVE: Youth with neurofibromatosis type I (NF1) demonstrate high rates of Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD), which often have overlapping behaviors. Diagnostic clarity is important to guide services. This study evaluated ASD classification in NF1 using various methods and whether those with ADHD suspicion have more social challenges associated with ASD. METHOD: 34 youth with NF1 (M(age) = 10.5 ± 1.6 years), completed ASD assessments that combined direct observation and informant ratings to yield a Clinician Best Estimate (CBE) classification. Caregivers rated ASD-related social challenges using the Social Responsiveness Scale- 2(nd) Edition (SRS-2). RESULTS: ASD classification varied depending on the method, ranging from 32% using low-threshold SRS-2 cut-scores (T ≥ 60) to under 6% when combining cut scores for diagnostic observational tools and stringent SRS-2 cut-scores (T ≥ 70). 14.7% had a CBE ASD classification. 44% were judged to have autism traits associated with a non-ASD diagnosis. The 52.9% with a suspicion of ADHD had higher SRS-2 scores than those without ADHD, F (7, 26) = 3.45, p < .05, Wilk's lambda = 0.518, partial eta squared = 0.482. CONCLUSIONS: Findings highlight the importance of rigorous diagnostic methodology when evaluating ASD in NF1 to inform the selection of targeted interventions for socialization challenges in NF1.

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9. Kaneko A, Atsumi T, Ide M. Temporal resolution relates to sensory hyperreactivity independently of stimulus detection sensitivity in individuals with autism spectrum disorder. Perception;2024 (Jun 12):3010066241259729.

Researchers have been focusing on perceptual characteristics of autism spectrum disorder (ASD) in terms of sensory hyperreactivity. Previously, we demonstrated that temporal resolution, which is the accuracy to differentiate the order of two successive vibrotactile stimuli, is associated with the severity of sensory hyperreactivity. We currently examined whether an increase in the perceptual intensity of a tactile stimulus, despite its short duration, is derived from high temporal resolution and high frequency of sensory temporal summation. Twenty ASD and 22 typically developing (TD) participants conducted two psychophysical experimental tasks to evaluate detectable duration of vibrotactile stimulus with same amplitude and to evaluate temporal resolution. The sensory hyperreactivity was estimated using self-reported questionnaire. There was no relationship between the temporal resolution and the duration of detectable stimuli in both groups. However, the ASD group showed severe sensory hyperreactivity in daily life than TD group, and the ASD participants with severe sensory hyperreactivity tended to have high temporal resolution, not high sensitivity of detectable duration. Contrary to the hypothesis, there might be different processing between temporal resolution and sensitivity for stimulus detection. We suggested that the atypical temporal processing would affect to sensory reactivity in ASD.

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10. Kundu S, Sair H, Sherr EH, Mukherjee P, Rohde GK. Discovering the gene-brain-behavior link in autism via generative machine learning. Sci Adv;2024 (Jun 14);10(24):eadl5307.

Autism is traditionally diagnosed behaviorally but has a strong genetic basis. A genetics-first approach could transform understanding and treatment of autism. However, isolating the gene-brain-behavior relationship from confounding sources of variability is a challenge. We demonstrate a novel technique, 3D transport-based morphometry (TBM), to extract the structural brain changes linked to genetic copy number variation (CNV) at the 16p11.2 region. We identified two distinct endophenotypes. In data from the Simons Variation in Individuals Project, detection of these endophenotypes enabled 89 to 95% test accuracy in predicting 16p11.2 CNV from brain images alone. Then, TBM enabled direct visualization of the endophenotypes driving accurate prediction, revealing dose-dependent brain changes among deletion and duplication carriers. These endophenotypes are sensitive to articulation disorders and explain a portion of the intelligence quotient variability. Genetic stratification combined with TBM could reveal new brain endophenotypes in many neurodevelopmental disorders, accelerating precision medicine, and understanding of human neurodiversity.

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11. Lindsay S, Li Y, Joneja S, Hsu S. Experiences of racism and racial disparities in health care among children and youth with autism and their caregivers: a systematic review. Disabil Rehabil;2024 (Jun 12):1-20.

PURPOSE: Although the health benefits of early diagnosis and therapeutic approaches for children and youth with autism spectrum disorder (ASD), racial disparities persist. This systematic review explored the experiences of racism and racial disparities in health care among children and youth with ASD and their caregivers. METHODS: We conducted a systematic review, drawing on six international databases. Two reviewers screened titles, abstracts, and full texts. Thirty-seven studies met our inclusion criteria and we applied a narrative synthesis to develop themes. RESULTS: Four themes were identified: (1) experiences and aspects of racism and racial disparities (i.e., language and cultural barriers, poor quality health care interactions, stereotypes and discrimination, family and community stigma, and indirect barriers); (2) racial disparities in health care (i.e., screening and referral, diagnosis, health care services, and care coordination and medication); (3) facilitators to accessing health care services; and (4) recommendations from caregivers. CONCLUSIONS: This review highlights the extensive racial disparities experienced by children with autism. More research is needed to explore youth’s perspectives on racism in addition to exploring potential interventions to address racial disparities and improve health equity for youth with ASD. Racial minoritized youth with autism experience many barriers in accessing health care and there is an urgent need to address the systemic racism within our health care systems.Health care leaders and decision-makers should advocate for policy and systems change to enhance equitable access to health services for all youth with disabilities, especially those who belong to minoritized groups.Health care providers should consider engaging in relevant training to provide culturally safe and appropriate services for racially diverse clients with autism.Health care providers and decision-makers should work together to remove barriers to accessing health care for racial minoritized youth with autism. eng

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12. Liu F, Begeer S, Hoekstra RA, Wang C, Scheeren AM. Autistic adults in China and the Netherlands: Proxy-reported community integration and life satisfaction. Autism;2024 (Jun 12):13623613241258182.

Even though there are about 10 million Chinese autistic individuals, we know little about autistic adults in China. This study examined how well young autistic adults in China integrate into their communities (such as having a job, living independently and having friends) and how satisfied they are with their lives as reported by their caregivers. We compared them to autistic adults with similar characteristics (such as high support needs) from the Netherlands. We included 99 autistic adults in China and 109 in the Netherlands (18-30 years). In both countries, autistic adults were reported to have a hard time fitting into their communities. They often had no work, did not live on their own and had few close friends. Also, in both countries, caregivers reported that autistic adults felt low satisfaction with their life. Chinese adults were less satisfied with their life than Dutch adults, as indicated by their caregivers. This could be because of a lack of support for autistic adults in China, higher parental stress in Chinese caregivers, or general cross-country differences in happiness. Only in the Dutch group, younger compared with older adults fitted better into their communities, and adults without additional psychiatric conditions were reported to have higher life satisfaction. Country was a significant predictor of independent living only, with Dutch participants more likely living in care facilities than Chinese participants. In conclusion, our study shows that autistic adults with high support needs generally face similar challenges in both China and the Netherlands.

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13. Lynam A, Sweeney MR, Keenan L, McNally S. Autistic pupils’ experiences in primary and post-primary schools: A scoping review and consultation with autistic pupils in Ireland. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241258705.

BACKGROUND AND AIMS: Autistic pupils have the right to be heard in matters concerning their education and to be active agents in shaping their school experiences. Despite this, educational policies and research have rarely included the voices of autistic children, failing to identify what they consider to be beneficial and meaningful in their own education. This study aimed to (i) summarise existing literature exploring autistic pupils’ experiences at school from their own perspectives and (ii) identify gaps for future research through a consultation with autistic pupils. METHODS: A scoping review was conducted to identify studies exploring first-person accounts of autistic pupils’ school experiences (primary and secondary; aged 4-18 years) published between 2005 and 2023. Thematic analysis was conducted to identify overarching thematic categories across the included studies. Review findings were discussed through a consultation with a Child and Youth Advisory Group (CYAG) comprised of autistic pupils in Ireland (N = 3), to seek feedback and inform a future research agenda. MAIN CONTRIBUTION: Thirty-six studies were included in the review and six themes were identified: Experiences of feeling misunderstood, of bullying and masking, of feeling excluded, of anxiety, of sensory needs in school, and of being overwhelmed during transitions. Consultation with the CYAG highlighted that these six themes were consistent with autistic pupils’ experiences but that reports of positive experiences were missing in the literature. CONCLUSIONS: This study identified several gaps in the literature on the school experiences of autistic pupils, based on both the scoping review and consultation with the CYAG. While the CYAG validated the themes identified in existing literature, there is a need for greater diversity in the samples included and increased focus on the potential positive aspects of the school experience. Implications. These findings have important research implications. In particular, further studies are needed with autistic pupils at primary school level, including those who are minimally or non-speaking, as well as ensuring pupils with positive school experiences are also represented. Findings also highlight the need for continued collaboration with autistic pupils themselves in matters concerning their education.

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14. Nakamura M. Morita Therapy as a Treatment Approach for Adolescent Autism Spectrum Disorder: A Five-Year Case Report Incorporating Inpatient and Diary Therapy. Cureus;2024 (Jun);16(6):e61750.

In 1919, Shoma Morita established Morita therapy, and this method of psychotherapy is widely used in Japan and across the world. With time, the medical indications of Morita therapy have expanded to include not only neurosis and anxiety disorders but other conditions as well. In modern times, Morita therapy has been used to treat adolescentneurodevelopmental disorders; however, it has not been widely covered in the English-language literature. In this report, a five-year course of treatment for a female patient with autism spectrum disorder (ASD) is presented. The patient exhibited dissociation, auditory hallucinations, overmedication, and wrist cutting, leading to multiple admissions to an adolescent ward. Over the treatment course, the symptoms of dissociation, self-harm, and auditory hallucinations disappear. Further, the patient was able to find a way to relate to society that was appropriate for her.

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15. Nuske HJ, Smith T, Levato L, Bronstein B, Sparapani N, Garcia C, Castellon F, Lee HS, Vejnoska SF, Hochheimer S, Fitzgerald AR, Chiappe JC, Nunnally AD, Li J, Shih W, Brown A, Cullen M, Hund LM, Stahmer AC, Iadarola S, Mandell DS, Hassrick EM, Kataoka S, Kasari C. Building Better Bridges: Outcomes of a Community-Partnered New School Transition Intervention for Students on the Autism Spectrum. J Autism Dev Disord;2024 (Jun 12)

New school transitions can be challenging for students on the autism spectrum. No published, evidence-based interventions exist to support families and teachers of students transitioning to elementary and secondary school during this critical period. Using Community Partnered Participatory Research, we developed Building Better Bridges (BBB), a caregiver coaching intervention that includes training on effective school communication, educational rights, advocacy, and child preparation strategies. We compared BBB (n = 83) to a module/resources-only comparison (n = 87) in a four-site randomized controlled trial in racially and ethnically diverse, under-resourced communities. In our intent-to-treat analysis, caregivers and teachers in BBB rated students’ transitions to the new classroom as more positive, relative to the comparison group. Results suggest this low-cost intervention can improve the transition process for families and students at high risk of poor transitions.

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16. Ostrolenk A, Gagnon D, Boisvert M, Lemire O, Dick SC, Côté MP, Mottron L. Enhanced interest in letters and numbers in autistic children. Mol Autism;2024 (Jun 12);15(1):26.

BACKGROUND: An intense and precocious interest in written material, together with a discrepancy between decoding and reading comprehension skills are defining criteria for hyperlexia, which is found in up to 20% of autistic individuals. It may represent the extreme end of a broader interest in written material in autism. This study examines the magnitude and nature of the interest in written material in a large population of autistic and non-autistic children. METHODS: All 701 children (391 autistic, 310 non-autistic) under the age of 7 referred to an autism assessment clinic over a span of 4 years were included. Ordinal logistic regressions assessed the association between diagnosis and the level of interest in letters and numbers. A nested sample of parents of 138 autistic, 99 non-autistic clinical, and 76 typically developing (TD) children completed a detailed questionnaire. Cox proportional hazards models analyzed the age of emergence of these interests. Linear regressions evaluated the association between diagnosis and interest level. The frequency of each behaviour showing interest and competence with letters and numbers were compared. RESULTS: In the two studies, 22 to 37% of autistic children had an intense or exclusive interest in letters. The odds of having a greater interest in letters was 2.78 times higher for autistic children than for non-autistic clinical children of the same age, and 3.49 times higher for the interest in numbers, even if 76% of autistic children were minimally or non-verbal. The age of emergence of these interests did not differ between autistic and TD children and did not depend on their level of oral language. Non-autistic children showed more interest in letters within a social context. LIMITATIONS: The study holds limitations inherent to the use of a phone questionnaire with caregivers and missing sociodemographic information. CONCLUSIONS: The emergence of the interest of autistic children toward written language is contemporaneous to the moment in their development where they display a strong deficit in oral language. Together with recent demonstrations of non-social development of oral language in some autistic children, precocious and intense interest in written material suggests that language acquisition in autism may follow an alternative developmental pathway.

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17. Pritchard-Rowe E, de Lemos C, Howard K, Gibson J. Autistic adults’ perspectives and experiences of diagnostic assessments that include play across the lifespan. Autism;2024 (Jun 12):13623613241257601.

Play is often included in autism diagnostic assessments. These assessments tend to focus on negatives and how people who are not autistic interpret observable behaviours. It is important to take a neurodiversity-affirmative assessment approach. This involves focusing on what autistic people say and looking at strengths and needs. We wanted to find out how autistic adults experience diagnostic assessments that include play. We asked autistic and non-autistic people to help us design our study and interview questions. We then interviewed 22 autistic adults to find out what they think about the use of play in assessments. We used a qualitative method called interpretative phenomenological analysis to analyse the data. Autistic adults told us about the different ways play was included in their diagnostic assessments. For example, some completed a diagnostic tool called the Autism Diagnostic Observation Schedule. Autistic adults also talked about the importance of considering how autistic people are different to each other. For example, we found that play may not be useful for assessing women or girls who mask. This suggests that professionals should adopt a personalised approach to diagnostic assessments that use play catering to each person’s needs. Our findings also suggested that professionals should assess strengths and differences as well as needs.

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18. Randall KN, Hopkins CS, Drew H. Menstrual education programs for girls and young women with intellectual and developmental disabilities: A systematic review. J Appl Res Intellect Disabil;2024 (Jul);37(4):e13264.

BACKGROUND: Providing menstrual education and guidance for menstrual management for girls and young women with intellectual disabilities is recommended to ensure smooth pubertal transitions and to support menstrual self-agency. METHOD: The purpose of this systematic review is to explore menstrual education interventions for girls and young women with intellectual disabilities. RESULTS: Nine studies were included. Interventions were provided in small groups (n = 4) and individually (n = 5). Most studies used dolls (n = 7) and task analysis (n = 7) to teach pad-replacement skills. All reported significant improvements in participant skills and/or knowledge following the intervention. Only one study addressed self-agency and self-esteem as an outcome of the intervention. Menstrual education for girls and young women with intellectual disabilities is largely focused on pad-replacement skills. CONCLUSION: Further research is needed to understand the impact of menstrual health and hygiene education on variables apart from skill improvement such as self-agency and long-term health outcomes related to menstrual health.

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19. Rodgers J, Cassidy S, Pelton M, Goodwin J, Wagnild J, Bhattarai N, Gordon I, Wilson C, Heslop P, Ogundimu E, O’Connor RC, Ramsay SE, Townsend E, Vale L. Feasibility and acceptability of autism adapted safety plans: an external pilot randomised controlled trial. EClinicalMedicine;2024 (Jul);73:102662.

BACKGROUND: Autistic people are a high-risk group for self-harm and suicide. There are no evidence-based suicide prevention interventions developed specifically for autistic people. We undertook a pilot feasibility randomised controlled trial of autism adapted safety plans (AASP) to reduce self-harm and suicide for autistic people. METHODS: This study took place in the United Kingdom and followed a randomised, two-arm, controlled design. Autistic adults (n = 53, mean age = 39, gender = 49% female, 29% not male or female) were recruited via third sector organisations and self-referral between 11.8.21 and 19.10.22. Participants were randomised without stratification to usual care with or without AASP. The AASP was completed by the autistic adults together with someone trained to support them. Research staff who completed follow-up assessments were blind to participant allocation. Primary outcomes were feasibility and acceptability. Participants were assessed at baseline, 1 and 6 months. Primary data were analysed under the intention to treat principle. Study protocol is published. The trial is closed to new participants. This study is registered with the ISRCTN registry, ISRCTN70594445. FINDINGS: 53 participants consented, 49 were randomised to either AASP with usual care (n = 25) or usual care (n = 24). 68% of participants in the AASP arm were satisfied with the AASP and 41% rated it as useable. Feedback on the AASP and research methods were positive with suggested adaptations to some outcome measures. Retention and completion of outcomes measures in both arms was excellent, as was fidelity of delivery of the AASP. INTERPRETATION: Study progression criteria were met, suggesting that the parameters of a future definitive trial of clinical and cost effectiveness of AASP to reduce self-harm and suicide in autistic adults are achievable, with minor recommended adaptions to outcome measures and AASP. Future research should explore the use of AASP in routine clinical practice. FUNDING: This study is funded by the NIHR [Public Health Research Programme (NIHR129196)].

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20. Shuffrey LC, Rennie B, Li X, Galai N, Pini N, Akbaryan A, Alshawabkeh A, Aschner J, Vargas JC, Costello L, D’Sa V, Deoni S, Dunlop A, Elliott AJ, Fifer WP, Hash J, Koinis-Mitchell D, Lai JS, Leventhal BL, Lewis J, Lucchini M, McArthur KL, Morales S, Nozadi SS, O’Connor TG, O’Shea TM, Page GP, Propper C, Sania A, Shuster C, Zimmerman E, Margolis AE. Combining developmental and sleep health measures for autism spectrum disorder screening: an ECHO study. Pediatr Res;2024 (Jun 12)

BACKGROUND: Sleep problems are reported for up to 80% of autistic individuals. We examined whether parsimonious sets of items derived from the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) and the Brief Infant Sleep Questionnaire (BISQ) are superior to the standard M-CHAT-R in predicting subsequent autism spectrum disorder (ASD) diagnoses. METHODS: Participants from 11 Environmental influences on Child Health Outcomes (ECHO) cohorts were included. We performed logistic LASSO regression models with 10-fold cross-validation to identify whether a combination of items derived from the M-CHAT-R and BISQ are superior to the standard M-CHAT-R in predicting ASD diagnoses. RESULTS: The final sample comprised 1552 children. The standard M-CHAT-R had a sensitivity of 44% (95% CI: 34, 55), specificity of 92% (95% CI: 91, 94), and AUROC of 0.726 (95% CI: 0.663, 0.790). A higher proportion of children with ASD had difficulty falling asleep or resisted bedtime during infancy/toddlerhood. However, LASSO models revealed parental reports of sleep problems did not improve the accuracy of the M-CHAT-R in predicting ASD diagnosis. CONCLUSION: While children with ASD had higher rates of sleep problems during infancy/toddlerhood, there was no improvement in ASD developmental screening through the incorporation of parent-report sleep metrics. IMPACT: Parental-reported sleep problems are common in autism spectrum disorder (ASD). We investigated whether the inclusion of parental-reports of infant/toddler sleep patterns enhanced the effectiveness of developmental screening for autism. We reported higher rates of difficulty falling asleep and resisting bedtime during infancy and toddlerhood among children later diagnosed with ASD; however, we did not find an improvement in ASD developmental screening through the incorporation of parent-report sleep metrics. In our sample, the standard M-CHAT-R had a sensitivity of 39% among children of mothers with government insurance compared with a sensitivity of 53% among children of mothers with employer-based insurance.

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21. Stephens MM, Casola AR, Cooper ET, Rea O, Roseman K. Development and implementation of a continuing care program for patients with intellectual and developmental disabilities in family medicine. Fam Pract;2024 (Jun 12);41(3):378-381.

In the United States, individuals with intellectual and developmental disabilities (IDD) consistently experience health disparities. One factor is limited access to quality healthcare services equipped to meet the needs of those with IDD, particularly as they transition to adulthood. The purpose of this work is to describe the development and implementation of Jefferson’s Continuing Care Program (JCCP), which was designed to address this care gap. We share how the idea, logistics, and support for the clinic were developed; how JCCP was designed to be uniquely accessible both via physical space and clinic flow; and how those challenges encountered have been crucial for fine-tuning optimal patient care. Since its inception in 2019, JCCP has made large strides towards educating the next generation of medical providers to care for patients with IDD. Looking to the future, JCCP plans to broaden its impact by serving more patients, continuing our advocacy and education work, and continuing to adapt to the needs of our community.

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22. Wang N, Shi B, Man X, Wu W, Cao J. [High expression of fragile X mental retardation protein inhibits ferroptosis of colorectal tumor cells by activating the RAS/MAPK signaling pathway]. Nan Fang Yi Ke Da Xue Xue Bao;2024 (May 20);44(5):885-893.

OBJECTIVE: To investigate the mechanism by which fragile X mental retardation protein (FMRP) regulates ferroptosis evasion in colorectal cancer (CRC) cells. METHODS: We examined FMRP expression levels in CRC cell lines using RT-qPCR and Western blotting and analyzed the biological functions and signaling pathways involved in FMRP-mediated regulation of CRC progression using the TCGA database. A lentiviral FMRP overexpression vector (Lv-FMRP) and 3 knockdown vectors (siFMRP-1, siFMRP-2, and siFMRP-3) were constructed, and their effects on proliferation of HCT116 cells were examined using CCK8 assay and plate clone formation assay; the changes in cell ferroptosis level was determined using MDA/ROS/GSH/Fe(2+) kits, mitochondrial membrane potential changes were detected using JC-1 fluorescence staining, and the expressions of proteins associated with ferroptosis and the RAS/MAPK signaling pathway were detected using Western blotting. The subcutaneous tumorigenic potential of the transfected cells was evaluated in nude mice. RESULTS: Compared with normal colonic mucosal epithelial NCM460 cells, the CRC cell lines had significantly higher FMRP expression level. Bioinformatics analysis suggested the involvement of FMRP in regulation of reactive oxygen, oxidative stress-induced cell death, mitochondrial respiration, and glutathione metabolism pathways. In the cell experiments, FMRP knockdown significantly inhibited proliferation of HCT116 cells, lowered cellular GSH content, increased MDA and ROS levels, Fe(2+) fluorescence intensity, and mitochondrial membrane potential, and decreased SLC7A11/GPX4 protein expressions and the phosphorylation levels of ERK, MEK, MAPK, and RAS proteins; FMRP overexpression resulted in the opposite changes in the cells. In the tumor-bearing nude mice, HCT116 cells with FMRP knockdown showed attenuated tumorigenic potential with lowered xenograft growth rate and reduced SLC7A11 expression in the xenograft. CONCLUSION: The high expression of FMRP inhibits ferroptosis in CRC cells and promotes progression of CRC by activating the RAS/MAPK signaling pathway.

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23. Wang YC, Tai YM, Wu YY, Chiu YN, Tsai WC, Gau SS. A follow-up study of peer relationships in autistic and non-autistic youths: Mediating effects from autistic, emotional and behavioral symptoms. Res Dev Disabil;2024 (Jun 12);151:104768.

BACKGROUND: Little is known about how clinical features prospectively influence peer relationships in autistic populations. AIMS: This study investigated the clinical symptoms mediating the link between autism spectrum disorder (ASD) diagnosis and peer relationships at follow-up, i.e. the second time evaluation of this study. METHODS: The sample consisted of 366 autistic youths and 134 non-autistic comparisons. The autistic traits and emotional/behavioral problems were measured at baseline by Social Responsiveness Scale (SRS) and Child Behavior Checklist (CBCL). The interactions and problems with peers were assessed by the Social Adjustment Inventory for Children and Adolescents (SAICA) at follow-up. RESULTS: Each subscore of SRS and CBCL showed significant mediation effects. Multiple mediation analyses showed atypical social communication, social awareness problems, and delinquent behaviors mediated the link from ASD to less active peer interactions after controlling for sex, age, and IQ. Moreover, atypical social communication, social-emotional problems, and attention difficulties predicted problems with peers. After considering these mediation effects, the diagnosis of ASD still demonstrated a significantly direct effect on peer relationships at follow-up. CONCLUSIONS AND IMPLICATIONS: Our findings support that social-related autistic features, attention problems, and delinquent behaviors mediated a link between ASD and peer relationships. These mediators are potential measures for improving interactions and decreasing difficulties with peers in the autistic population.

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24. Yang L, Ye J, Zhu H, Tang Y, Li X. Development and evaluation of a family-child reading picture book on reducing autism spectrum disorder caregivers’ psychological stress: a mixed method study. Front Psychiatry;2024;15:1390430.

INTRODUCTION: The rapid increasing prevalence of ASD has become a significant global health issue. Caregivers of children with ASD are experiencing higher level of psychological stress and mental disorders. However, interventions to improve the psychological health of caregivers of children with ASD have largely been neglected. METHODS: Based on the ADDIE (Analysis, Design, Development, Implementation, and Evaluation) model, we initially did in-depth interviews with 8 caregivers, and conducted field observation in two rehabilitation centers to analyze the daily lives, the empowered components, the emotional moments of the children with autism and their caregivers. Then we designed the outline of the picture book, and developed it by a multi-disciplinary team by 4 rounds. After that, this picture book was sent out to 54 caregivers of children with ASD for family-child reading in one month. A quantitative questionnaire was administered before and after their reading to evaluate the efficacy of reducing their stress and affiliate stigma, and improving self-efficacy, resilience, empowerment capacity; and exit interviews were conducted after their initial reading to assess the acceptability, content appropriateness, perceived benefits and generalizability of this picture book. Quantitative data were analyzed by descriptive analysis and paired t-tests using IBM SPSS 26.0. Qualitative data were analyzed using template analysis. RESULTS: In total, 54 caregivers read the picture book with their child, with the total of 149 (an average of 2.76 per family) times reading in one month. Among them, 39 caregivers returned the following-up questionnaires. Although most of the outcome measures did not showed significant changes except the stress level decreased statistically significant (13.38 ± 3.864 to 11.79 ± 3.238, P=0.001), caregivers reported that the picture book echoed their daily lives and gave them a sense of warmth, inspiration, and hope, as well as some insight on family relationships and attitudes towards the disorder. They also expressed a willingness to disseminate the book to other families with children suffering ASD and the public. CONCLUSION: This specially designed picture book has been proven to be an acceptable, content-appropriate, and effective family-centered psychological intervention, which could be easily scaled up.

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25. Zhou R, Sun C, Sun M, Ruan Y, Li W, Gao X. Altered intra- and inter-network connectivity in autism spectrum disorder. Aging (Albany NY);2024 (Jun 10);16(11):10004-10015.

OBJECTIVE: A neurodevelopmental illness termed as the autism spectrum disorder (ASD) is described by social interaction impairments. Previous studies employing resting-state functional imaging (rs-fMRI) identified both hyperconnectivity and hypoconnectivity patterns in ASD people. However, specific patterns of connectivity within and between networks linked to ASD remain largely unexplored. METHODS: We utilized a meticulously selected subset of high-quality data, comprising 45 individuals diagnosed with ASD and 47 HCs, obtained from the ABIDE dataset. The pre-processed rs-fMRI time series signals were partitioned into ninety regions of interest. We focused on eight intrinsic connectivity networks and further performed intra- and inter-network analysis. Finally, support vector machine was used to discriminate ASD from HC. RESULTS: Through different sparsities, ASD exhibited significantly decreased intra-network connectivity within default mode network and dorsal attention network, increased connectivity between limbic network and subcortical network, and decreased connectivity between default mode network and limbic network. Using the classifier trained on altered intra- and inter-network connectivity, multivariate pattern analyses classified the ASD from HC with 71.74% accuracy, 70.21% specificity and 75.56% sensitivity in 10% sparsity of functional connectivity. CONCLUSIONS: ASD showed characteristic reorganization of the brain networks and this provided new insight into the underlying process of the functional connectome dysfunction in ASD.

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