Pubmed du 23/04/25
1. An M, Sasai T, Ito R, Inoue M, Komaki M, Kusano Y, Tabata A, Bardid F, Fitton Davies K, Foweather L, Knowles Z, Roberts SJ, Rudd J, Kato T. Development and Further Content Validation of the Motivation Assessment Tool for Physical Activity (MATPA) Among Children with Autism Spectrum Disorder. J Autism Dev Disord;2025 (Apr 23)
This study describes the content validity process, focusing on children, to create and validate a tool for assessing motivation toward out-of-school physical activity (PA) among children with autism spectrum disorder (ASD) aged 6 to 17 years. Additionally, it establishes the eligible verbal communication age range necessary for its application. The initial development and content validity process with external experts is described elsewhere (An et al., 2025 under review). The MAT-PA was iteratively refined during the content validity process with twenty children (two with version 0.1, ten with version 0.2, and eight with version 0.3). Modifications were made based on feedback from children who completed the entire interview. The Vineland Adaptive Behavior Scales, Second Edition (VABS-2), assessed the age-equivalent for daily verbal communication skills required for the MAT-PA. Feedback from the twelve children who completed the entire interview process (two with version 0.1, six with version 0.2, and four with version 0.3) provided evidence supporting the tool’s content validity. Challenges with attention spans and verbal abilities limited full participation from the remaining eight children. Parent-reported VABS-2 scores indicated that the MAT-PA is suitable for children with ASD who have verbal communication skills equivalent to 3-year-olds (receptive) and 6-year-olds (expressive). The MAT-PA is the first tool specifically designed to explore the psychological needs and behavioral regulation of children with ASD, providing evidence of content validity. Future work should focus on improving the tool’s reliability for trial integration, exploring its applicability across diverse contexts, and leveraging technology to boost scalability and impact.
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2. Coburn KL, Shipley EP. « Do I Need Anything More Specific? »: Experiences of Autistic Participants in a Language-Focused Research Study. Am J Speech Lang Pathol;2025 (Apr 23):1-11.
BACKGROUND: Autistic advocates have called for researchers to engage with the needs and experiences of autistic people when planning and designing research studies. The purpose of the present study was to better understand the experiences of autistic adults participating in a language research study and how researchers can design more accessible future studies. METHOD: The present study was a secondary thematic analysis of data recorded during a larger study of spoken narratives by autistic adults. During virtual research interviews, participants frequently expressed comments about the nature of the research tasks and their experiences of participation in the study. The full interview transcripts were analyzed to identify data relating to participants’ subjective experiences of research participation. Thematic analysis was applied to transcripts of all comments not directly elicited by the structured narrative prompts. RESULTS: Four main topics and their subthemes were established based on analysis of the data set: processing strategies, attitudes toward research, awareness of the research process, and self-reflective comments about the narrative tasks. The main topics and their subthemes are discussed to derive insight into the experiences of autistic research participants. DISCUSSION: The findings are especially relevant to researchers and practitioners who conduct spoken language tasks with autistic people. To make research participation more accessible and affirming for autistic people, researchers can share specific information about what to expect before, during, and after participation.
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3. Costache ME, Gioia F, Vanello N, Greco A, Capobianco A, Weibel S, Weiner L. Dialectical behavior therapy in autistic adults: effects on ecological subjective and physiological measures of emotion dysregulation. Borderline Personal Disord Emot Dysregul;2025 (Apr 23);12(1):14.
BACKGROUND: Although Ecological Momentary Assessment (EMA) and physiological measurements provide a valuable opportunity to evaluate therapeutic interventions in real time, no study has used this approach to assess Dialectical Behavior Therapy (DBT) in autistic adults with high levels of emotion dysregulation (ED). METHODS: In this study, 26 autistic adults were evaluated before and after participating in a standard 5-month DBT program, using Ecological Momentary Assessment (EMA). The EMA included: (1) twelve evaluations per day over a 7-day period, measuring alexithymia, emotional states, subjective arousal and emotion control; (2) continuous physiological monitoring with a wristband to record heart-rate (HR), heart-rate variability (HRV) and skin conductance levels (SCL). RESULTS: Following DBT, no significant differences were found with respect to negative emotions and higher conflicting emotions, but increased rates of identified emotions, positive emotions and emotion control were found. Baseline autonomic responses remained unchanged, whereas subjective arousal was found to correlate positively with HRV. Overall, these results suggest that participants showed enhanced emotion awareness and emotion regulation capabilities following DBT. CONCLUSION: Our study adds to previous research showing that DBT is efficient in treating ED in autistic adults, using real-time measurements of subjective and physiological markers collected through EMA. Specifically, alexithymia measures decreased post-DBT while positive emotions and emotion control increased. Randomized controlled trials should consider using these methods to improve the assessment of the impact of DBT in the daily life of autistic individuals with ED and/or suicidal behavior.
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4. Ebbing C, Halmoy A, Rasmussen S, Mauland KK, Kessler J, Moster D. Umbilical cord length and neurodevelopmental disorders, a national cohort study. PLoS One;2025;20(4):e0322444.
INTRODUCTION: Adversities in fetal life are known risk factors for neurodevelopmental disorders (NDD). Despite the pivotal role of the umbilical cord, little is known about its associations to later NDD. OBJECTIVE: To estimate the associations between umbilical cord length and NDD (Attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), intellectual disability (ID), cerebral palsy (CP), epilepsy, impaired vision or hearing), and whether associations differed by sex. MATERIALS AND METHODS: A prospective population-based cohort study including all liveborn singletons in Norway from 1999, through 2013 and followed up through 2019. Data were retrieved from The Medical Birth Registry of Norway and linked with other national health and administrative registries. Exposures were extreme umbilical cord length (empirical percentile <5th or ≥ 95th percentiles). Main outcome measures were NDD (ADHD, ASD, ID, CP, epilepsy, impaired vision or hearing). Associations with umbilical cord length were assessed using logistic regression. RESULTS: The cohort consisted of 858,397 births (51.3% boys). We identified 33,370 persons with ADHD (69.8% boys), 10,818 had ASD (76.0% boys), 5538 ID (61.4% boys), 2152 with CP (59.9% boys), 8233 epilepsy (55.0% boys), 900 impaired vision (boys 55.0%), and 11,441 impaired hearing (boys 52.8%). Cord length was positively associated with ADHD (OR 1.15; 95%CI 1.09-1.22), i.e., the risk increased with long cord and decreased with short cord, regardless of sex. A short cord was positively associated with ID (OR 2.42; 95%CI 2.17-2.69), impaired hearing (OR 1.41; 95%CI 1.29-1.54), and epilepsy (OR 1.31; 95%CI 1.18-1.46). CP was associated with both short and long cord (OR 1.31; 95% CI 1.07-1.61 and 1.34, 95%CI 1.13-1.60, respectively). There was no association between cord length and impaired vision. CONCLUSIONS: This first population study finds that umbilical cord length is associated with NDD. The findings support the hypothesis that neurodevelopment and development of the umbilical cord share pathways.
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5. Fridell A, Choque Olsson N, Coco C, Bölte S, Jonsson U. The moderating role of co-occurring attention-deficit hyperactivity disorder in social skills group training for autistic children and adolescents. Autism;2025 (Apr 23):13623613251331993.
Social skills group training is frequently used to support autistic children and adolescents in coping with everyday social demands and expectations. Meta-analytic studies suggest small to medium effect sizes. Effect moderators must be better understood to inform implementation and allow optimization of intervention protocols. Using data from two pragmatic randomized trials (N = 241) of the KONTAKT™ social skills group training program as an add-on to standard care in clinical settings, we aimed to explore the moderating role of co-occurring attention-deficit hyperactivity disorder in children (7-12 years) and adolescents (13-18 years). Two distinct response criteria were defined based on the parent-rated Social Responsiveness Scale: reliable improvement (⩾25 points) and clinically relevant improvement (⩾10 points). Moderator analyses indicated that the intervention effect was moderated by co-occurring attention-deficit hyperactivity disorder and age group. Logistic regressions stratified by co-occurring attention-deficit hyperactivity disorder showed significant effects among those without attention-deficit hyperactivity disorder (n = 63), both in terms of reliable improvement (odds ratio: 11.85, p = 0.002) and clinically relevant improvement (odds ratio: 10.00, p = 0.001). In contrast, no significant effects were observed in those with co-occurring attention-deficit hyperactivity disorder (n = 178). Explorative analyses further stratified by age suggested significant effects in adolescents, but not children, with co-occurring attention-deficit hyperactivity disorder. The findings preliminarily suggest that autistic children with attention-deficit hyperactivity disorder may need other or additional support.Lay abstractSocial skills group training can help some autistic children and adolescents improve their social life. Still, the positive effects may be less clear for those who also have attention-deficit hyperactivity disorder. We used data from two previous projects evaluating the effects of a social skills group training program called KONTAKT™ as an addition to the common healthcare provided. Our study included 241 children (8-12 years) and adolescents (13-18 years). To determine whether the participants had improved their social skills, we used ratings provided by the parents before and after the training and 3 months later. We then explored if KONTAKT led to improvement for autistic children and adolescents with and without attention-deficit hyperactivity disorder. Autistic children and adolescents often struggle to understand others and express themselves in everyday social situations. These challenges can create barriers to well-being and future life chances. Social skills group training can improve social skills in some autistic youths, but not all will benefit equally from the training. It is therefore important to better understand whether some groups need more support or other forms of assistance. Many autistic children and adolescents also have attention-deficit hyperactivity disorder, which can make the training of social skills more complicated. We found that both children and adolescents can benefit from KONTAKT. Still, preadolescent autistic children with attention-deficit hyperactivity disorder did not seem to improve as a result of the training. Based on these findings, it is important to find additional strategies to support this specific group of autistic children in handling social situations.
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6. Ghanouni P, Naimpally T. Insights into healthcare services for youth with autism spectrum disorder transitioning to adulthood: a focus on rural Atlantic Canada. BMC Health Serv Res;2025 (Apr 23);25(1):584.
Individuals with neurodevelopmental disabilities, such as autism spectrum disorder (ASD) often require unique healthcare services. As adolescents age out of the pediatric health system, accessing appropriate healthcare becomes more challenging during the transition to adulthood. This challenge is amplified for individuals with ASD living in rural areas where access to healthcare services is limited. The aim of this qualitative study was to explore the experiences of stakeholders, including individuals with ASD, parents of individuals with ASD, and service providers, during the transition to adulthood in rural communities. MethodsWe recruited 26 individuals including 16 youth, 6 parents and 4 service providers through convenience and snowball sampling methods from Canadian Atlantic provinces. Semi-structured interviews were conducted, focusing on barriers and challenges encountered during the transition.ResultsThematic analysis was employed to identify patterns and themes within the data. Three central themes emerged from the data including transport to and from care, limited resources, and continuity of care.ConclusionThe findings underscore the significant challenges faced by individuals with ASD and their families during the transition to adulthood in rural areas. By understanding and addressing these challenges, stakeholders can work towards implementing informed policies to ensure equitable access to healthcare services for individuals with ASD transitioning to adulthood in rural areas.
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7. Jaicks Ç CD, Ray P, Öztürk Ö G, Çelik GG, Tahiroğlu AY, Haytoğlu Z, Döğüş Y. Assessment of Serum Melatonin Levels, Sleep Patterns, and Clinical Symptoms in Children With Autism Spectrum Disorder: A Case-Control Study. Psychiatry Investig;2025 (Apr);22(4):397-404.
OBJECTIVE: This study aimed to investigate the relationship between serum melatonin levels, sleep habits, and clinical features in children with autism spectrum disorder (ASD) compared to healthy controls. METHODS: A total of 71 children, aged 2-8 years, including 38 with ASD diagnosed according to Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition criteria and 33 age- and sex-matched healthy controls, were evaluated. Serum melatonin, vitamin D, ferritin, serum iron, and iron-binding capacity were analyzed. Sleep habits were assessed using the Pediatric Sleep Habits Questionnaire, while the Autism Behavior Checklist and Modified Checklist for Autism in Toddlers were administered to the ASD group. Relationships between biochemical markers and questionnaire scores were analyzed. RESULTS: The mean age was 44.4±20.4 months in the ASD group and 51.2±20.0 months in the control group (p=0.104). The ASD group exhibited higher « bedwetting » scores, while the control group had higher « daytime sleepiness » scores (p=0.008, p=0.036, respectively). Serum melatonin levels were significantly elevated in the ASD group (823.2±237.9 U/L) compared to controls (677.4±254.7 U/L, p=0.027), with this difference significant in males (p=0.020) but not in females (p=0.608). No significant correlations were observed between melatonin levels and questionnaire scores. CONCLUSION: Elevated daytime melatonin levels and altered sleep patterns in children with ASD suggest potential melatonin receptor desensitization. Sex-specific variations underline the importance of personalized melatonin-based interventions. These findings provide insights into developing tailored therapeutic strategies for managing sleep and behavioral challenges in ASD. However, future studies are needed to explore these findings further with larger and more diverse populations.
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8. Kleinhans N, Larsen SF, Estes A, Aylward E. Intrinsic Functional Connectivity Alterations of the Fusiform Face Area in Autism Spectrum Disorder. NeuroSci;2025 (Apr 1);6(2)
Intrinsic connectivity of the fusiform face area (FFA) was assessed using resting-state functional magnetic resonance imaging (fMRI) to compare adults with autism spectrum disorder (ASD; n = 17) and age-, sex-, and IQ-matched typically developing controls (TD; n = 22). The FFA seed region was delineated in each participant using a functional localizer task. Whole brain analyses of FFA connectivity revealed increased connectivity between the right FFA and the vermis, sensorimotor cortex, and extended face-processing network in individuals with ASD compared to TD participants; the TD group did not demonstrate increased functional connectivity. No group differences were observed from the left FFA. The relationship between FFA connectivity and the ability to remember faces significantly differed between the groups. Better face memory performance was positively correlated with increased connectivity within general visual processing areas in the ASD participants; whereas for the TD group, better face memory performance was associated with increased connectivity with brain regions related to face encoding, recognition, and retrieval. FFA overconnectivity with face, emotion, and memory processing areas, along with atypical relationships between FFA-occipito-temporal connections and face memory performance highlights a possible mechanism underlying social dysfunction in individuals with ASD.
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9. Kurumada C, Rivera R, Allen P, Bennetto L. Publisher Correction: Perception and adaptation of receptive prosody in autistic adolescents. Sci Rep;2025 (Apr 22);15(1):13892.
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10. Lee IO, Wolstencroft J, Housby H, van den Bree MBM, Chawner S, Hall J, Owen MJ, Skuse DH. Inequalities of the Waiting Time for Education Health and Care Plan Provision for Pupils With Intellectual Developmental Disabilities: A Brief Report. J Intellect Disabil Res;2025 (Apr 23)
BACKGROUND: Children and young people with intellectual and developmental disabilities (IDDs) face challenges across various aspects of their lives and require significant support, particularly in the field of education. In the United Kingdom, Education, Health and Care Plans (EHCPs) support those with special educational needs (SEN) in schools. Disparities exist throughout our national educational system with respect to how long pupils with IDDs must wait for an EHCP, but the socio-demographic influences on those disparities are currently unknown. Delays in providing EHCP support result in negative educational, wellbeing and developmental outcomes. Using data from the National Pupil Database (NPD), we examined variabilities in waiting times for EHCP provision, and correlations with potentially influential variables such as SEN classification, family socio-economic status, region of domicile and ethnicity. METHODS: This national study recruited 2131 participants [6-28 years old, mean (SD) = 14.1 (4.4) years] with IDDs associated with a genetic condition. Families gave consent for their child’s educational records to be reviewed by the research team. All participants had received an EHCP at some point during their full-time education in England. We accessed the NPD (provided by the UK Department for Education), for details of participants’ primary SEN type, free school meal eligibility, ethnicity and the academic year in which they received an EHCP. Based on their home address postcode, we assigned to each family an index of multiple deprivation (IMD) score. From the NPD, we calculated the waiting time between a child’s recommendation for an EHCP and the time they received it. We compared these data with IMD scores, primary SEN type, free school meal eligibility, English region of domicile, ethnicity, and sex. We used linear regression models to examine the associations between the predictors (the above demographic independent variables) and the duration of time it took for children to receive an EHCP. RESULTS: Participants with IDDs of genetic aetiology who lived in the most socially deprived regions of England waited longer for EHCP support than those in the least deprived regions, irrespective of the NPD classification of the child’s SEN type. Neither the child’s ethnicity nor their sex had any added impact. Whatever their IMD status, participants living in London obtained an EHCP more quickly than those living elsewhere in England. CONCLUSIONS: There are nationwide inconsistencies in the time taken to provide EHCPs to children and young people whose intellectual impairments are of known genetic aetiology. Regional inequalities in the funds available to local education authorities could be a major contributory factor.
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11. Lee JJ, Flouri E, Jackson Y. Respiratory Sinus Arrhythmia (RSA) Reactivity and Developmental Delay in the Preschool Years. Dev Psychobiol;2025 (May);67(3):e70042.
Children with developmental delay are more likely than their typically developing peers to experience emotional dysregulation. Given that there is evidence that respiratory sinus arrhythmia (RSA) reactivity indexes emotion regulation, which in turn tracks motor, language, and cognitive development across the early years, RSA reactivity should develop accordingly in that period and differ by developmental status. The present study therefore compared those with and without developmental delay (across adaptive, personal-social, and motor domains) on the growth in RSA reactivity in the preschool years (ages 3-5 years) across three time points. Results showed that those with global developmental delay exhibited atypical RSA reactivity progression (e.g., excessive or insufficient vagal withdrawal) across the preschool years. Follow-up is needed to determine whether this pattern of RSA reactivity persists later in childhood.
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12. Looi MK. Trump watch: Leaked plan to slash NIH budget in half, CDC contradicts RFK Jr on autism, and more. Bmj;2025 (Apr 23);389:r798.
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13. Mbuyamba HT, Ruboha CO, Mhidze AG, Katwana DG, Mungia MM, Nkika JZ. Colorectal bezoars as an unusual cause of intestinal obstruction in an autistic child: A case report. Int J Surg Case Rep;2025 (May);130:111325.
INTRODUCTION AND IMPORTANCE: Individuals with Autism Spectrum Disorder (ASD) are at greater risk of experiencing co-occurring gastrointestinal (GI) symptoms, including chronic constipation and acute intestinal obstruction, due to bezoars secondary to pica. This case highlights the importance of clinic evaluation of autistic patients presenting with obstructive gastrointestinal symptoms and its further impact on management of the patients. CASE PRESENTATION: An 11-year-old male patient who has had autism since childhood presented to the emergency department with chief complaint of difficulty in passing stool for one month which was associated with failure to pass flatus, severe abdominal pain and loss of appetite. The relative reported that the patient had a tendency of eating inorganic materials when unsupervised like hair, cushion sponges or sand. An abdominal mass was palpated at the left lower quadrant of the abdomen. Abdominopelvic CT-Scan showed fecal impaction. The patient was managed conservatively by manual evacuation under general anesthesia. CLINICAL DISCUSSION: Colonic bezoars presenting with obstructive symptoms is a rare finding. It should be thought of in autistic patients with habit of pica. Diagnostic imaging modalities such as X-ray and CT scan are of paramount importance in confirming the diagnosis. Initial management involves conservative measures for uncomplicated cases. CONCLUSION: Bezoars should be considered as cause of intestinal obstruction in patients with habit of pica, especially in those with autism spectrum disorders. Multidisciplinary approach to diagnosis, intervention, and long-term management in assuring patients’ overall well-being should sought.
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14. McLean KJ, Koenig J, Wolpe S, Song W, Bishop L. Health disparities persist for adults with developmental disabilities: NHIS insights, 1999-2018. Health Aff Sch;2025 (Apr);3(4):qxae158.
This study assesses changes in self-reported health and healthcare status among adults with intellectual and developmental disabilities (I/DD) over the past 20 years, utilizing data from the National Health Interview Survey. We conducted a cross-sectional analysis of 601 464 adults 18 and older, categorized by disability status: no functional limitations, developmental disabilities, intellectual disabilities, and other functional limitations. We aimed to identify trends in health status, healthcare access, affordability, and utilization from 1999 to 2018, comparing outcomes across disability groups. Results indicate adults with intellectual disabilities reported poorer health compared to those without functional limitations, particularly in the most recent period (2014-2018). Adults with developmental disabilities exhibited increased odds of poor health during 2009-2013 compared to 1999-2003, but no significant differences occurred between other periods. Additionally, poverty rates for adults with I/DD were higher, with a substantial proportion of adults with intellectual disabilities living in poverty compared to those without functional limitations, indicating persistent disparities without significant trend improvements. Despite advancements in healthcare access and affordability, self-reported health outcomes for adults with I/DD have not improved, highlighting the need for policies to enhance care quality. Future research should focus on effective healthcare practices and provider training to address these persistent disparities.
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15. Motamed M, Hajikarim-Hamedani A, Fakhrian A, Alaghband-Rad J. A systematic review of sexual health, knowledge, and behavior in Autism Spectrum Disorder. BMC Psychiatry;2025 (Apr 22);25(1):410.
BACKGROUND: Autism Spectrum Disorder (ASD) affects social interaction, communication, and behavior, with significant challenges in sexual experiences, relationships, and victimization. This review consolidates findings to improve understanding of sexual health in ASD. METHODS: Following PRISMA guidelines, studies from PubMed, Scopus, Web of Science, and PsycInfo (1991-2024) were reviewed. Data were extracted using EndNote 21, focusing on demographics, autism support needs, and sexual behaviors. Methodological quality was assessed using modified Cochrane and Effective Public Health Practice Project tools. RESULTS: Autistic individuals face unique challenges in romantic and sexual relationships, such as sensory sensitivities and communication difficulties. While they share typical sexual desires, these challenges can complicate their relationships and increase the risk of victimization. The review highlights the need for tailored sexual health education and supportive interventions, particularly for those at higher risk. CONCLUSION: This review emphasizes the need for inclusive sexual health interventions for autistic individuals, considering the heterogeneity of ASD and its impact on sexual well-being. Further research should address current gaps, especially regarding non-Western contexts and individuals with co-occurring intellectual disabilities or gender diversity, to improve support and understanding.
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16. Muris P, Otgaar H, Donkers F, Ollendick TH, Deckers A. Caught in the Web of the Net? Part I: Meta-analyses of Problematic Internet Use and Social Media Use in (Young) People with Autism Spectrum Disorder. Clin Child Fam Psychol Rev;2025 (Apr 23)
This article examined the internet and social media usage among (young) individuals with autism spectrum disorder (ASD). Two meta-analyses were conducted to quantify (1) the relation between ASD/autistic traits and problematic internet use (PIU, which included generalized PIU, problematic gaming, excessive smartphone use), and (2) the relation between ASD/autistic traits and social media use. The results of our first meta-analysis-comprising 46 studies and 42,274 participants-revealed that people with ASD or higher levels of autistic traits showed higher levels of PIU, with an average effect size of r = 0.26 (95% CI [0.21, 0.31]). The second meta-analysis-consisting of 15 studies and 7036 participants-indicated that people with ASD or higher levels of autistic traits were less involved on social media platforms as compared to their typically developing counterparts, with the average effect size being r = - 0.28 (95% CI [- 0.38, – 0.18]). The quality of the research on PIU and social media in persons with ASD was critically evaluated and possible directions for future research on this topic are discussed.
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17. Naguy A, Alayadhi N, Elsori D, Alamiri B. Transient Hyperprolactinemia After a Single Low-Dose PRN Olanzapine ODT in a Low-Functioning Autistic Boy. Am J Ther;2025 (Apr 22)
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18. Smith W, Desprez C. Healthcare providers’ practices in identifying and managing constipation in autistic adults: A qualitative study of facilities across France. Autism;2025 (Apr 22):13623613251333829.
Constipation is a common comorbidity among autistic adults, yet diagnosing and managing it poses unique challenges, notably due to communication barriers and a lack of specific guidelines. The study explores the professional practices of healthcare providers (HCPs) in managing constipation among autistic adults, the symptoms they identify, their management strategies, and the sources of knowledge guiding their practices. A qualitative approach was used, involving semi-structured interviews with ten HCPs, supplemented by twelve online questionnaires. Thematic analysis revealed three overarching themes: (1) HCPs acknowledged challenges in identifying constipation in autistic patients, relying on clinical markers and behavioral cues; (2) HCPs described assessment tools and preventive strategies in managing constipation; and (3) HCPs identified challenges and strategies in managing constipation in autistic adults, adopting a collaborative approach, while exposing a lack of specific training. Findings indicate that HCPs depend on non-verbal cues and behavioral changes, such as increased agitation, irritability, and altered motor patterns, to detect constipation. Variability in treatment protocols and limited formal training underscores the need for more structured training and standardized approaches. The study suggests that improved collaboration among HCPs and with families could lead to more consistent and effective care.Lay abstractConstipation is common among autistic adults, but it can be difficult to diagnose and treat notably because of difficulties in communicating and a lack of clear guidelines. This study considered how healthcare providers (HCPs) in France handle constipation in autistic adults. The research involved interviews with ten HCPs from various medical-social facilities and 12 online questionnaires. The study found three main points: Identifying Constipation: HCPs often struggle to recognize constipation in autistic adults. They rely on physical signs and changes in behavior, such as increased agitation, irritability, and singular ways of acting. Managing Constipation: HCPs use various strategies to manage constipation, focusing on prevention, yet lack clear guidelines for assessment. Challenges and Strategies: HCPs face many challenges, including a lack of specific training. They emphasize working in multidisciplinary teams and with families to manage constipation effectively. The study highlights that better training and standardized guidelines are needed to help HCPs provide consistent and effective care. Improving teamwork among HCPs and with families can lead to better outcomes for autistic adults with constipation.
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19. Wanigasekera LC, Maybery MT, Palermo R, Whitehouse AJO, Tan DW. First Impressions Towards Autistic People: A Systematic Review and Meta-Analysis. Autism Res;2025 (Apr 23)
Emerging evidence suggests that observers tend to form less favorable first impressions toward autistic people than toward non-autistic people. These negative impressions may be associated with immediate behavioral responses, as well as long-lasting attitudes toward those being observed that may negatively impact their psychosocial wellbeing. This systematic review and meta-analysis synthesized the existing literature that has compared first impressions toward autistic and non-autistic people to investigate whether first impressions are influenced by: (1) type of first impression measure, (2) modality of stimulus presentation, and (3) characteristics of the observers and/or stimulus participants. Key inclusion criteria were: (1) one or more groups of observers provided first impression ratings, (2) the stimuli were presented in either audio-only, video-only, audio-video, still image, or speech transcript format, and (3) first impressions toward autistic and non-autistic individuals were compared. A systematic search identified a final sample of 21 articles, which included 221 effects for analyses. Findings showed that first impressions were generally less favorable for autistic compared to non-autistic people across all presentation modalities other than speech transcript, with effect sizes typically moderate to large. Differences in first impressions toward autistic and non-autistic people were generally more pronounced for ratings of interpersonal attraction and social and communication presentation, rather than for ratings of psychological and personality traits. There was also some evidence that characteristics of non-autistic observers, such as autism knowledge and quality of contact with autistic people, impact first impressions. These findings provide insight into the critical role first impressions play in influencing social interaction between autistic and non-autistic individuals.
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20. Xia Z, Deng Q, Hu P, Gao C, Jiang Y, Zhou Y, Guo Q. Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay. J Mol Diagn;2025 (Apr 23)
Fragile X syndrome (FXS) is the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. Although the value of population-based FXS carrier screening has been acknowledged, appropriate screening methods are urgently required to establish and implement screening programs. We developed a nanopore sequencing-based assay that includes data analysis software to identify FXS carriers. Reference and clinical samples were used to evaluate the performance of nanopore sequencing assay. Triplet-primed PCR and PacBio sequencing assays were used for comparisons. Nanopore sequencing identified reference carrier samples with a full range of premutation alleles in single-, 10-, and 100-plex assays, and identified AGG interruptions in an allele-specific manner. Moreover, nanopore sequencing revealed no size preference for amplicons containing different length CGG repeat regions. Finally, nanopore sequencing successfully identified three carriers among ten clinical samples for preliminary clinical validation. The observed variation in CGG repeat region size resulted from the base-calling process of nanopore sequencing. In conclusion, the nanopore sequencing assay is rapid, high-capacity, inexpensive, and easy to perform, thus providing a promising tool and paving the way for population-based FXS carrier screening.