1. Buck AS, Chapman R, Krahn GL, Brown C, Gertz B, Havercamp SM. Research About Us, With Us: An Inclusive Research Case Study. Intellect Dev Disabil;2024 (Aug 1);62(4):260-273.

Inclusive research combines the expertise of academically trained researchers with the lived experience of individuals with disabilities to render results that are more accessible, accountable, and meaningful to the disability community. In this case study, adults with intellectual and developmental disabilities (IDD) contributed as co-researchers to a series of studies on mental health of adults with intellectual disability. The research model, specific engagement strategies, and lessons learned are shared. Feedback from members of the research team suggests that including adults with IDD as co-researchers benefited investigators, co-researchers with IDD, and project outcomes. Our case study emphasizes the valuable contributions of research partners with IDD and provides a model that may be adapted and utilized by researchers to enhance their practice.

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2. Burke MM, Best M, Cheung WC, DaWalt LS, Taylor JL. Exploring the Involvement of Autistic Youth in Decision Making About Services. Intellect Dev Disabil;2024 (Aug 1);62(4):323-333.

Although services are critical for many transition-aged youth, it is unclear the extent to which autistic youth participate in decisions about their services. By exploring the perceptions of autistic youth about their role in services, interventions can be developed to improve their participation. In this study, we interviewed 43 transition-aged youth with autism to explore their involvement in decisions about services. Most youth reported not being involved in decision making about the types and modalities of disability services. When youth were involved in decisions, the services were often related to education. Although youth reported that their parents typically spearheaded decisions about services, youth also reported that their parents often listened to their input. Implications for research, policy, and practice are discussed.

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3. Carvalho MR, Cavalcante TT, Oliveira PS, Naves PVF, Cunha PEL. Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings. Arq Neuropsiquiatr;2024 (Aug);82(8):1-2.

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4. Demirci SC, Barun S, Özaslan A, Gülbahar Ö, Bulut TSD, Çamurdan AD, İşeri E. Investigating the Relationship of Serum CD163, YKL40 and VILIP-1 Levels with Autism Severity and Language-cognitive Development in Preschool Children with Autism. Clin Psychopharmacol Neurosci;2024 (Aug 31);22(3):473-483.

OBJECTIVE: This study aimed to compare serum levels of CD163, YKL-40, and VILIP-1 between children with autism spectrum disorder (ASD) and healthy controls, while also investigating their association with the severity of ASD and language development. METHODS: The study included 40 ASD-diagnosed patients (aged 18-72 months) and 40 age-matched healthy controls. Childhood Autism Rating Scale, Preschool Language Scale-4, and Ankara Development Screening Inventory were administered to children in the ASD group. Serum CD163, YKL-40 and VILIP-1 levels were measured with an enzyme- linked immunosorbent assay kit. RESULTS: In the ASD group compared to the control group, serum VILIP-1 levels were significantly higher (p = 0.046). No significant differences were observed in mean serum CD163 and YKL-40 levels between patients and controls (p = 0.613, p = 0.769). Interestingly, a positive correlation was observed between CD163 and YKL-40 levels and ASD severity (p < 0.001 for both). Additionally, CD163 and YKL-40 levels showed significant predictive value for ASD severity. While no significant associations were found between CD163 and YKL-40 levels and language development, a negative correlation was observed between VILIP-1 levels and language development (p < 0.001). CONCLUSION: Our findings highlight that the levels of CD163 and YKL-40 significantly predicted ASD severity, indicating a potential role of neuroinflammation in the development of ASD.

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5. Fields AM, Lewis O, Castle M, Smith-Hill RB, Stinnett CV. College Students With Intellectual and Developmental Disabilities’ Experiences, Conception, and Development of Emotional Wellness. Intellect Dev Disabil;2024 (Aug 1);62(4):274-286.

This study aimed to understand the ways in which college students with intellectual and developmental disabilities (IDD) experience and develop their understanding of emotions and emotional wellness. Semi-structured interviews with college students with IDD were conducted. The research team utilized consensual qualitative research (CQR) to analyze interviews and came to consensus in generating domains, core ideas, and a cross-analysis to answer the research question, « What are the experiences of college students with IDD in developing an understanding of emotions and emotional wellness? » Findings suggest college students with IDD have experience developing and maintaining their emotional wellness, though they may experience barriers prior to and during college enrollment. Limitations and implications for future research are discussed.

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6. Hayama H, Makino K, Yazaki Y, Hara H. Upsizing of GORE® Cardioform ASD Occluder for Atrial Septal Defect With Atrial Septal Aneurysm. Cureus;2024 (Jun);16(6):e63281.

Atrial septal defects (ASDs) often present with multiple foramina, including a patent foramen ovale (PFO) and atrial septal aneurysms (ASAs). Transcatheter device closure of an ASD may require additional supportive techniques in complex cases. Here, we report a case of a secundum ASD complicated by an ASA and a PFO in a man in his 50s. A GORE® Cardioform ASD Occluder (GCA) device of the optimal size for balloon sizing was implanted. However, edge leakage occurred from the front of the device because of a large, moving ASA. Implantation of a two-size-up GCA device successfully closed the ASD under controlled ASA movement.

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7. Lee K, Jung Y, Vyas Y, Mills Z, McNamara L, Montgomery JM. Differential effectiveness of dietary zinc supplementation with autism-related behaviours in Shank2 knockout mice. Philos Trans R Soc Lond B Biol Sci;2024 (Jul 29);379(1906):20230230.

The family of SHANK proteins have been shown to be critical in regulating glutamatergic synaptic structure, function and plasticity. SHANK variants are also prevalent in autism spectrum disorders (ASDs), where glutamatergic synaptopathology has been shown to occur in multiple ASD mouse models. Our previous work has shown that dietary zinc in Shank3(-/-) and Tbr1(+/-) ASD mouse models can reverse or prevent ASD behavioural and synaptic deficits. Here, we have examined whether dietary zinc can influence behavioural and synaptic function in Shank2(-/-) mice. Our data show that dietary zinc supplementation can reverse hyperactivity and social preference behaviour in Shank2(-/-) mice, but it does not alter deficits in working memory. Consistent with this, at the synaptic level, deficits in NMDA/AMPA receptor-mediated transmission are also not rescued by dietary zinc. In contrast to other ASD models examined, we observed that SHANK3 protein was highly expressed at the synapses of Shank2(-/-) mice and that dietary zinc returned these to wild-type levels. Overall, our data show that dietary zinc has differential effectiveness in altering ASD behaviours and synaptic function across ASD mouse models even within the Shank family. This article is part of a discussion meeting issue ‘Long-term potentiation: 50 years on’.

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8. Li M, Wang Y, Gao H, Xia Z, Zeng C, Huang K, Zhu Z, Lu J, Chen Q, Ke X, Zhang W. Exploring autism via the retina: Comparative insights in children with autism spectrum disorder and typical development. Autism Res;2024 (Jul 29)

Autism spectrum disorder (ASD) is a widely recognized neurodevelopmental disorder, yet the identification of reliable imaging biomarkers for its early diagnosis remains a challenge. Considering the specific manifestations of ASD in the eyes and the interconnectivity between the brain and the eyes, this study investigates ASD through the lens of retinal analysis. We specifically examined differences in the macular region of the retina using optical coherence tomography (OCT)/optical coherence tomography angiography (OCTA) images between children diagnosed with ASD and those with typical development (TD). Our findings present potential novel characteristics of ASD: the thickness of the ellipsoid zone (EZ) with cone photoreceptors was significantly increased in ASD; the large-caliber arteriovenous of the inner retina was significantly reduced in ASD; these changes in the EZ and arteriovenous were more significant in the left eye than in the right eye. These observations of photoreceptor alterations, vascular function changes, and lateralization phenomena in ASD warrant further investigation, and we hope that this work can advance interdisciplinary understanding of ASD.

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9. Lian R, Wu G, Xu F, Zhao S, Li M, Wang H, Jia T, Dong Y. Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China. Orphanet J Rare Dis;2024 (Jul 29);19(1):281.

BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, OMIM: 616803) is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, which is attributed to haploinsufficiency by heterozygous variants of SOX5 gene (SRY-Box Transcription Factor 5, HGNC: 11201) on chromosome 12p12. A total of 113 cases have been reported in the world, however, only 3 cases have been reported.in China. Here, we aimed to report novel variants of SOX5 gene and provide examples for clinical diagnosis by reporting the clinical phenotype of a series of Chinese patients with LAMSHF. METHODS: This study retrospectively collected the information of families of LAMSHF patients in China. Whole Exome Sequencing (WES) were performed to confirm the diagnosis of 4 children with unexplained developmental delay or epilepsy. A minigene splicing assay was used to verify whether the splice variant affected splicing. Meanwhile, a literature review was conducted to analyze the clinical and genetic characteristics of patients with LAMSHF. RESULTS: Three of the LAMSHF patients had a de novo heterozygous mutation in the SOX5 gene respectively, c.290delC (p.Pro97fs*30), chr12:23686019_24048958del, c.1772-1C > A, and the remaining one had a mutation inherited from his father, c.1411C > T (p.Arg471*). The main clinical manifestations of these children were presented with global developmental delays, and one of them also had seizures. And the results of the minigene experiment indicated that the splice variant, c.1772-1C > A, transcribed a novel mRNA product which leaded to the formation of a truncated protein. CONCLUSIONS: Through a comprehensive review and analysis of existing literature and this study showed intellectual disability, speech delay and facial dysmorphisms were common clinical manifestation, while the seizures and EEG abnormalities were rare (21/95, 22.16%). Notably, we represent the largest sample size of LAMSHF in Asia that encompasses previously unreported SOX5 gene mutation, and a minigene testing have been conducted to validate the pathogenicity of the c.1772-1C > A splice variant. The research further expands the phenotype and genotype of LAMSHF while offers novel insights for potential pathogenicity of genes locus.

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10. Maes P, La Valle C, Tager-Flusberg H. Frequency and characteristics of echoes and self-repetitions in minimally verbal and verbally fluent autistic individuals. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241262207.

BACKGROUND AND AIMS: Nongenerative speech is the rote repetition of words or phrases heard from others or oneself. The most common manifestations of nongenerative speech are immediate and delayed echolalia, which are a well-attested clinical feature and a salient aspect of atypical language use in autism. However, there are no current estimates of the frequency of nongenerative speech, and the individual characteristics associated with nongenerative speech use in individuals across the autistic spectrum are poorly understood. In this study, we aim to measure and characterize spontaneous and nongenerative speech use in minimally verbal and verbally fluent autistic children and adolescents. METHODS: Participants were 50 minimally verbal and 50 verbally fluent autistic individuals aged 6 to 21 years. Spontaneous and nongenerative speech samples were derived from SALT transcripts of ADOS-2 assessments. Participants’ intelligible speech utterances were categorized as spontaneous or nongenerative. Spontaneous versus nongenerative utterances were compared between language subgroups on frequency of use and linguistic structure. Associations between nongenerative speech use and a series of individual characteristics (ADOS-2 subscale scores, nonverbal IQ, receptive vocabulary, and chronological age) were investigated over the whole sample and for each language subgroup independently. RESULTS: Almost all participants produced some nongenerative speech. Minimally verbal individuals produced significantly more nongenerative than spontaneous utterances, and more nongenerative utterances compared to verbally fluent individuals. Verbally fluent individuals produced limited rates of nongenerative utterances, in comparison to their much higher rates of spontaneous utterances. Across the sample, nongenerative utterance rates were associated with nonverbal IQ and receptive vocabulary, but not separately for the two language subgroups. In verbally fluent individuals, only age was significantly inversely associated with nongenerative speech use such that older individuals produced fewer nongenerative utterances. In minimally verbal individuals, there were no associations between any of the individual characteristics and nongenerative speech use. In terms of linguistic structure, the lexical diversity of nongenerative and spontaneous utterances of both language subgroups was comparable. Morphosyntactic complexity was higher for spontaneous compared to nongenerative utterances in verbally fluent individuals, while no differences emerged between the two utterance types in minimally verbal individuals. CONCLUSIONS: Nongenerative speech presents differently in minimally verbal and verbally fluent autistic individuals. Although present in verbally fluent individuals, nongenerative speech appears to be a major feature of spoken language in minimally verbal children and adolescents. IMPLICATIONS: Our results advocate for more research on the expressive language profiles of autistic children and adolescents who remain minimally verbal and for further investigations of nongenerative speech, which is usually excluded from language samples. Given its prevalence in the spoken language of minimally verbal individuals, nongenerative speech could be used as a way to engage in and maintain communication with this subgroup of autistic individuals.

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11. Merrill SM, Hogan C, Bozack AK, Cardenas A, Comer JS, Bagner DM, Highlander A, Parent J. Telehealth Parenting Program and Salivary Epigenetic Biomarkers in Preschool Children With Developmental Delay: NIMHD Social Epigenomics Program. JAMA Netw Open;2024 (Jul 1);7(7):e2424815.

IMPORTANCE: Children with developmental delays are at a heightened risk of experiencing mental health challenges, and this risk is exacerbated among racially minoritized children who face disproportionate adversity. Understanding the impact of parenting interventions on biological markers associated with these risks is crucial for mitigating long-term health disparities. OBJECTIVE: To examine the effect of 20 weeks of an internet-based parent-child interaction training (iPCIT) program on biomarkers associated with aging and chronic inflammation among preschoolers with developmental delay at 12-month follow-up. DESIGN, SETTING, AND PARTICIPANTS: An observational secondary analysis of data from a randomized clinical trial conducted from March 17, 2016, to December 15, 2020, to assess changes in salivary DNA methylation (DNAm)-derived biomarkers following iPCIT intervention. Participants were recruited from 3 Part C early intervention sites in a large southeastern US city. Eligible participants included children recruited within 3 months of their third birthday who had a Child Behavior Checklist Externalizing Problems T score greater than 60 and provided saliva in at least 1 study wave. Data analysis was conducted May 2023 to April 2024. INTERVENTION: Participants received either iPCIT (a telehealth therapeutic intervention focused on enhancing the parent-child relationship and addressing behavioral challenges in young children) or referrals as usual. MAIN OUTCOMES AND MEASURES: DNAm at the 12-month follow-up was assessed using the Infinium HumanMethylationEPIC Bead Chip Assay to derive biomarkers DunedinPACE, C-reactive protein (CRP), and interleukin-6 (IL-6). Analyses were intent-to-treat and used path analysis. RESULTS: A total of 71 children (mean [SD] age, 36.27 [0.61] months 51 male [71.8%] and 20 female [28.2%]) were analyzed, of whom 34 received iPCIT and 37 received referrals as usual. The iPCIT group had a slower pace of aging (β = 0.26; 95% CI, 0.06 to 0.50; P = .03) and less DNAm-derived CRP (β = 0.27; 95% CI, 0.05 to 0.49; P = .01) relative to the control condition at the 12-month follow-up. These associations remained significant after accounting for baseline DNAm score, child demographics, and symptom severity, and were independent of predicted buccal epithelial cell proportion for both DunedinPACE and CRP. There was no association with DNAm-derived IL-6 (β = 0.14; 95% CI, -0.08 to 0.36; P = .21). CONCLUSIONS AND RELEVANCE: In this study of a parenting intervention, iPCIT, the association of intervention with decreased molecular markers of inflammation and biological aging suggests their potential to modify aspects of the biological embedding of stress. Understanding the systemic biological impact of such interventions offers insights into addressing health disparities and promoting resilience among vulnerable populations. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03260816.

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12. Miller-Fleming TW, Allos A, Gantz E, Yu D, Isaacs DA, Mathews CA, Scharf JM, Davis LK. Developing a phenotype risk score for tic disorders in a large, clinical biobank. Transl Psychiatry;2024 (Jul 28);14(1):311.

Tics are a common feature of early-onset neurodevelopmental disorders, characterized by involuntary and repetitive movements or sounds. Despite affecting up to 2% of children and having a genetic contribution, the underlying causes remain poorly understood. In this study, we leverage dense phenotype information to identify features (i.e., symptoms and comorbid diagnoses) of tic disorders within the context of a clinical biobank. Using de-identified electronic health records (EHRs), we identified individuals with tic disorder diagnosis codes. We performed a phenome-wide association study (PheWAS) to identify the EHR features enriched in tic cases versus controls (n = 1406 and 7030; respectively) and found highly comorbid neuropsychiatric phenotypes, including: obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorder, and anxiety (p < 7.396 × 10(-5)). These features (among others) were then used to generate a phenotype risk score (PheRS) for tic disorder, which was applied across an independent set of 90,051 individuals. A gold standard set of tic disorder cases identified by an EHR algorithm and confirmed by clinician chart review was then used to validate the tic disorder PheRS; the tic disorder PheRS was significantly higher among clinician-validated tic cases versus non-cases (p = 4.787 × 10(-151); β = 1.68; SE = 0.06). Our findings provide support for the use of large-scale medical databases to better understand phenotypically complex and underdiagnosed conditions, such as tic disorders.

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13. Morgan J, Zavras AT. Oral health care for individuals with intellectual and developmental disabilities: A statewide model. Spec Care Dentist;2024 (Jul 29)

BACKGROUND AND AIM: Effective strategies and practices can assist in forming future initiatives and policies to improve oral health for individuals with intellectual and developmental disabilities (IDD). This manuscript aims to describe the Tufts Dental Facilities (TDF), a university-state collaboration providing sustained statewide access to comprehensive oral health care for individuals with IDD. PROGRAM DESCRIPTION: The TDF program was established in 1976 as the result of a class action lawsuit to improve medical and dental care for individuals with IDD residing at state institutions in Massachusetts. TDF, A partnership, between Tufts University School of Dental Medicine (TUSDM) and the Commonwealth of Massachusetts, is a network of seven dental clinics strategically positioned across the state. These clinics are specifically designed to meet the oral health needs of individuals with IDD. TUSDM’s oral health providers with expertise in special care dentistry deliver comprehensive oral health care for over 6500 individuals with IDD, incorporating supportive care services and access to general anesthesia. Additionally, the program provides training in special care dentistry for dental residents and pre-doctoral dental students. CONCLUSIONS: Leveraging state and university resources, TDF provides a model of a sustainable, long-term system for statewide access to oral health care for individuals with IDD.

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14. Öz F, Kaya İ, Tanır Y, Küçükgergin C, Aydın AF. Comparison of Serum Neurofilament Light Chain and Tau Protein Levels in Cases with Autism Spectrum Disorder and Their Healthy Siblings and Healthy Controls. Clin Psychopharmacol Neurosci;2024 (Aug 31);22(3):502-511.

OBJECTIVE: : There is a growing interest among clinicians and researchers in identifying potential biomarkers associated with autism. Neurofilament light chain (NfL) and Tau protein, which are proteins associated with neurodegeneration and neuroaxonal degeneration, are particularly promising potential biomarker candidates in this field. METHODS: : In this study, we compared serum NfL (sNfL) and serum Tau (sTau) levels in Autism spectrum disorder (ASD) patients, their healthy siblings (HS), and healthy controls (HC), aimed to investigate their relationship with ASD severity. Our study included 43 ASD-diagnosed participants, 43 HS participants and 42 HC participants. Clinical characteristics of the participants were assesed by Kiddie Schedule for Affective Disorders and Schizophrenia, Childhood Autism Rating Scale, Aberrant Behavior Checklist, and Strengths and Difficulties Questionnaire. Serum samples were subjected to analysis via enzyme-linked immunosorbent assay to quantitatively measure the levels of NfL and Tau protein. RESULTS: : sNfL levels in the ASD group were significantly higher than both of the control groups. Regarding sTau levels, no significant difference was found between study and control groups. In addition, NfL and Tau levels were not significantly correlated with ASD symptom severity. CONCLUSION: : Our findings may indicate that the sNfl levels associated with neuroaxonal damage may constitue a potential clinical biomarker rather than being an endophenotype phenomena.

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15. Petersen L, Christiansen G, Chatwin H, Yilmaz Z, Schendel D, Bulik C, Grove J, Brikell I, Semark B, Holde K, Abdulkadir M, Hubel C, Albiñana C, Vilhjálmsson B, Borglum A, Demontis D, Mortensen P, Larsen J. The role of co-occurring conditions and genetics in the associations of eating disorders with attention-deficit/hyperactivity disorder and autism spectrum disorder. Res Sq;2024 (Jul 17)

Eating disorders (EDs) commonly co-occur with other psychiatric and neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD); however, the pattern of family history and genetic overlap among them requires clarification. This study investigated the diagnostic, familial, and genetic associations of EDs with ADHD and ASD. The nationwide population-based cohort study included all individuals born in Denmark, 1981-2008, linked to their siblings and cousins. Cox regression was used to estimate associations between EDs and ADHD or ASD, and mediation analysis was used to assess the effects of intermediate mood or anxiety disorders. Polygenic scores (PGSs) were used to investigate the genetic association between anorexia nervosa (AN) and ADHD or ASD. Significantly increased risk for any ED was observed following an ADHD [hazard ratio = 1.97, 95% confidence interval = 1.75-2.22] or ASD diagnosis [2.82, 2.48-3.19]. Mediation analysis suggested that intermediate mood or anxiety disorders could account for 44-100% of the association between ADHD or ASD and ED. Individuals with a full sibling or maternal halfsibling with ASD had increased risk of AN [1.54, 1.33-1.78; 1.45, 1.08-1.94] compared to those with siblings without ASD. A positive association was found between ASD-PGS and AN risk [1.06, 1.02-1.09]. In this study, positive phenotypic associations between EDs and ADHD or ASD, mediation by mood or anxiety disorder, and a genetic association between ASD-PGS and AN were observed. These findings could guide future research in the development of new treatments that can mitigate the development of EDs among individuals with ADHD or ASD.

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16. Scahill L, Lecavalier L, Edwards MC, Wenzell ML, Barto LM, Mulligan A, Williams AT, Ousley O, Sinha CB, Taylor CA, Youn Kim S, Johnson LM, Gillespie SE, Johnson CR. Toward better outcome measurement for insomnia in children with autism spectrum disorder. Autism;2024 (Jul 29):13623613241255814.

Insomnia, trouble falling asleep or staying asleep, is common in autistic children. In a previous report, we described the results of focus groups with parents of autistic children toward the development of the Pediatric Autism Insomnia Rating Scale. In this article, we report on the steps taken to complete the Pediatric Autism Insomnia Rating Scale. With help from the Simons Foundation registry, we collected information from parents on 1185 children with autism spectrum disorder to test the new measure. These results were evaluated using standard statistical methods such as factor analysis. To confirm the validity of the new measure, we enrolled a separate sample of 134 autistic children for a detailed assessment by video conference. This step showed that the Pediatric Autism Insomnia Rating Scale is clearly measuring symptoms of insomnia in children with autism spectrum disorder and not related problems such as hyperactivity, repetitive behavior, or anxiety. We also showed that the total score on the Pediatric Autism Insomnia Rating Scale is stable when repeated over a brief period of time. This is important because a measure that is not stable over a brief period of time would not be suitable as an outcome measure. In summary, the Pediatric Autism Insomnia Rating Scale is a brief and valid measure of insomnia in children with autism spectrum disorder that provides reliable scores.

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17. Schwartzman BC, Schutz MA, Carter EW, McMillan ED. Virtual Community Conversations as Catalysts for Improving Transitions for Youth With Intellectual and Developmental Disabilities. Intellect Dev Disabil;2024 (Aug 1);62(4):306-322.

Youth with intellectual and developmental disabilities (IDD) aspire to participate in a variety of activities after high school, such as attaining paid employment, enrolling in postsecondary education, being involved in their communities, living independently, and building friendships. However, complex and longstanding transition barriers require comprehensive solutions that are tailored to a local community’s unique needs and available resources so that local youth with IDD may achieve their desired outcomes. This article presents « virtual community conversations » as a promising approach for bringing together local communities to tackle barriers to good outcomes for residents with IDD. Attendees were able to effectively generate innovative recommendations for addressing issues in their local communities. We offer recommendations for enhancing and extending implementation of this approach.

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18. Shogren KA. Reflections on How What We Say, Do, and Acknowledge as Intellectual and Developmental Disability Researchers Matters. Intellect Dev Disabil;2024 (Aug 1);62(4):247-259.

This article highlights reflections by the author on the importance of considering what we say, do and acknowledge in intellectual and developmental disability research. The goal is to advance thinking that can lead to personal and collective change in our approaches to truly share power and elevate the expertise of people with lived experience with intellectual and developmental disabilities in the movement for equity, inclusion, and disability justice. Implications for inclusive research, policy, and practice are discussed as is the need to engage in personal reflection and build new partnerships for collective change.

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19. Su WC, Cleffi C, Srinivasan S, Bhat AN. Does Delivery Format Matter? A Pilot Study Comparing Telehealth Versus Face-to-Face Movement Interventions for Children With Autism Spectrum Disorder. Pediatr Phys Ther;2024 (Jul 29)

PURPOSE: Children with Autism Spectrum Disorder (ASD) have motor, social communication, and behavioral challenges. During the pandemic, children lost access to face-to-face (F2F) services and had to revert to telehealth (TH) options. We compared the efficacy, fidelity, acceptability, and feasibility of a general motor (GM) intervention using an F2F or telehealth (TH) format. METHODS: Fifteen children with ASD participated in an 8-week program involving gross motor games to promote motor and social communication skills. Differences across TH and F2F formats for motor and socially directed verbalization as well as stakeholder feedback on formats were collected. RESULTS: Gross motor and socially directed verbalization did not differ between the F2F and TH subgroups, and parents and trainers were satisfied with either format. However, TH interventions were longer, had more technological challenges, and required more parental effort. CONCLUSIONS: The findings of this study support the use of TH as a comparable and viable substitute for F2F interactions for children with ASD.

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20. Thacker JS, Bettio L, Liang S, Shkolnikov I, Collingridge GL, Christie BR. Adiponectin rescues synaptic plasticity in the dentate gyrus of a mouse model of Fragile X Syndrome. Philos Trans R Soc Lond B Biol Sci;2024 (Jul 29);379(1906):20230221.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is the leading known single-gene cause of autism spectrum disorder. Patients with FXS display varied behavioural deficits that include mild to severe cognitive impairments in addition to mood disorders. Currently, there is no cure for this condition; however, there is an emerging focus on therapies that inhibit mechanistic target of rapamycin (mTOR)-dependent protein synthesis owing to the clinical effectiveness of metformin for alleviating some behavioural symptoms in FXS. Adiponectin (APN) is a neurohormone that is released by adipocytes and provides an alternative means to inhibit mTOR activation in the brain. In these studies, we show that Fmr1 knockout mice, like patients with FXS, show reduced levels of circulating APN and that both long-term potentiation (LTP) and long-term depression (LTD) in the dentate gyrus (DG) are impaired. Brief (20 min) incubation of hippocampal slices in APN (50 nM) was able to rescue both LTP and LTD in the DG and increased both the surface expression and phosphorylation of GluA1 receptors. These results provide evidence for reduced APN levels in FXS playing a role in decreasing bidirectional synaptic plasticity and show that therapies which enhance APN levels may have therapeutic potential for this and related conditions.This article is part of a discussion meeting issue ‘Long-term potentiation: 50 years on’.

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21. Volianskis R, Lundbye CJ, Petroff GN, Jane DE, Georgiou J, Collingridge GL. Cage effects on synaptic plasticity and its modulation in a mouse model of fragile X syndrome. Philos Trans R Soc Lond B Biol Sci;2024 (Jul 29);379(1906):20230484.

Fragile X syndrome (FXS) is characterized by impairments in executive function including different types of learning and memory. Long-term potentiation (LTP), thought to underlie the formation of memories, has been studied in the Fmr1 mouse model of FXS. However, there have been many discrepancies in the literature with inconsistent use of littermate and non-littermate Fmr1 knockout (KO) and wild-type (WT) control mice. Here, the influence of the breeding strategy (cage effect) on short-term potentiation (STP), LTP, contextual fear conditioning (CFC), expression of N-methyl-d-aspartate receptor (NMDAR) subunits and the modulation of NMDARs, were examined. The largest deficits in STP, LTP and CFC were found in KO mice compared with non-littermate WT. However, the expression of NMDAR subunits was unchanged in this comparison. Rather, NMDAR subunit (GluN1, 2A, 2B) expression was sensitive to the cage effect, with decreased expression in both WT and KO littermates compared with non-littermates. Interestingly, an NMDAR-positive allosteric modulator, UBP714, was only effective in potentiating the induction of LTP in non-littermate KO mice and not the littermate KO mice. These results suggest that commonly studied phenotypes in Fmr1 KOs are sensitive to the cage effect and therefore the breeding strategy may contribute to discrepancies in the literature.This article is part of a discussion meeting issue ‘Long-term potentiation: 50 years on’.

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22. Zhao W, Le J, Liu Q, Zhu S, Lan C, Zhang Q, Zhang Y, Li Q, Kou J, Yang W, Zhang R, Becker B, Zhang L, Kendrick KM. A clustering approach identifies an Autism Spectrum Disorder subtype more responsive to chronic oxytocin treatment. Transl Psychiatry;2024 (Jul 29);14(1):312.

Over the last decade, a number of clinical trials have reported effects of chronic treatment with intranasal oxytocin on autistic symptoms but with inconsistent findings. Autism is a heterogeneous disorder and one factor which may influence treatment outcome is whether a subtype of individuals is more sensitive to oxytocin. In a recent cross-over trial on 41 young autistic children we reported that 44% showed a reliable improvement in clinical symptoms (Autism Diagnostic Observation Schedule, ADOS-2) after a placebo-controlled, 6-week intranasal oxytocin intervention where treatment was given every other day followed by a period of positive social interaction. In the current re-assessment of the data, we used an unsupervised data-driven cluster analysis approach to identify autism subtypes using 23 different demographic, social subtype, endocrine, eye-tracking and clinical symptom measures taken before treatment and this revealed an optimum of two different subtypes. We then assessed the proportion of identified responders to oxytocin and found that while 61.5% of one subtype included responders only 13.3% of the other did so. During the placebo phase there was no difference between the two subtypes for the small proportion of responders (19.2% vs 6.7%). This oxytocin-sensitive subtype also showed overall significant post-treatment clinical and eye-tracking measure changes. The oxytocin-sensitive subtype was primarily characterized at baseline by lower initial clinical severity (ADOS-2) and greater interest in the eye-region of emotional faces. These features alone were nearly as efficient in identifying the two subtypes as all 23 baseline measures and this easy-to-conduct approach may help rapidly and objectively screen for oxytocin responders. Future clinical trials using oxytocin interventions may therefore achieve greater success by focusing on children with this specific autism subtype and help develop individualized oxytocin intervention.

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