Pubmed du 23/10/24
1. Bastan E, McGuinness R, Beck S, Surtees A. EXPRESS: Reasoning in Social versus Non-social Domains and its Relation to Autistic Traits. Q J Exp Psychol (Hove). 2024: 17470218241296090.
Enhanced rationality has been linked to higher levels of autistic traits, characterised by increased deliberation and decreased intuition, alongside reduced susceptibility to common reasoning biases. However, it is unclear whether this is domain-specific or domain-general. We aimed to explore whether reasoning tendencies differ across social and non-social domains in relation to autistic traits. We conducted two experiments (N1 = 72, N2 = 217) using a reasoning task with social and non-social scenario comparisons to evaluate the specific information participants used when making judgments about children, in the social domain, and objects, in the non-social domain. We consistently found a greater reliance on behaviour-based information in the non-social domain, compared to the social domain, indicating a more deliberative approach. In Experiment 1, we found a correlation between autistic traits and the proportion of behaviour-based information, suggesting a more deliberative approach, when making judgments about children, and not about objects. In Experiment 2, with a larger sample, shortened version of the reasoning task, and requests for written justification, we did not identify a significant correlation between these variables. With this study, we introduce a novel scenario-based reasoning task that systematically compares the social and non-social domains. Our findings highlight the complex nature of the relationship between reasoning style and autistic traits.
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2. Brown CM, Chaparro JD, Chandawarkar A, Bester S, Newmeyer A, Barnhardt EW. Boosting Autism Screening and Referrals with EHR-Integrated Tools at Well-Child Visits. J Dev Behav Pediatr. 2024.
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3. Cissne MN, Bellesheim KR, Cowan N, Christ SE. Visual Working Memory in Adolescents with Autism Spectrum Disorder. J Autism Dev Disord. 2024.
Previous research suggests that individuals with autism spectrum disorder (ASD) may experience working memory (WM) problems, but the nature of the underlying disruption remains unknown. A recent study (Bodner et al. 2019) found that young adults with ASD experienced intact WM capacity but disruptions in their ability to efficiently filter and allocate attention. The goal of the present study was to extend this work and evaluate potential disruptions in WM capacity and attentional allocation ability in adolescents with ASD. A sample of 38 adolescents with ASD and 39 adolescents without ASD aged 11-15 years completed a computerized WM task. In brief, participants were shown visual arrays consisting of four or six colored stimuli (circles and squares). After a short delay, memory for one of the stimuli was probed. Importantly, participants were informed beforehand that one of the shapes (e.g., circles) was more likely to be probed compared to the other shape (e.g., squares) – thus making it strategically beneficial to focus primarily on the high frequency shapes. The ASD group demonstrated overall lower WM capacity compared to the non-ASD group. However, no group differences were seen in attentional allocation. There was also no evidence of sex-related differences in WM performance in adolescents with ASD. Taken together with previous findings, the current results suggest that adolescents with ASD show disruptions in WM capacity that are resolved by adulthood. Future longitudinal research is needed to further disentangle the component processes of WM and the developmental trajectories of these components.
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4. Demartini B, Ingrosso G, Serio F, Nisticò V, Broglia G, Bertani A, Faggioli R, Gambini O, Massimetti G, Dell’Osso L, Carpita B. Prevalence of autistic traits and their relationships with other psychopathological domains in young adults seeking psychiatric attention: a cluster analysis. Eur Psychiatry. 2024; 67(1): e71.
BACKGROUND: Nearly two-thirds of individuals with a mental disorder start experiencing symptoms during adolescence or early adulthood, and the onset of a mental disorder during this critical life stage strongly predicts adverse socioeconomic and health outcomes. Subthreshold manifestations of autism spectrum disorders (ASDs), also called autistic traits (ATs), are known to be associated with a higher vulnerability to the development of other psychiatric disorders. This study aimed to assess the presence of ATs in a population of young adults seeking specialist assistance and to evaluate the study population across various psychopathological domains in order to determine their links with ATs. METHODS: We recruited a sample of 263 adolescents and young adults referring to a specialized outpatient clinic, and we administered them several self-report questionnaires for the evaluation of various psychopathological domains. We conducted a cluster analysis based on the prevalence of ATs, empathy, and sensory sensitivity scores. RESULTS: The cluster analysis identified three distinct groups in the sample: an AT cluster (22.43%), an intermediate cluster (45.25%), and a no-AT cluster (32.32%). Moreover, subjects with higher ATs exhibited greater symptomatology across multiple domains, including mood, anxiety, eating disorder severity, psychotic symptoms, and personality traits such as detachment and vulnerable narcissism. CONCLUSIONS: This study highlights the importance of identifying ATs in young individuals struggling with mental health concerns. Additionally, our findings underscore the necessity of adopting a dimensional approach to psychopathology to better understand the complex interplay of symptoms and facilitate tailored interventions.
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5. Dhar D, Chaturvedi M, Sehwag S, Malhotra C, Udit, Saraf C, Chakrabarty M. Gray Matter Volume Correlates of Co-Occurring Depression in Autism Spectrum Disorder. J Autism Dev Disord. 2024.
Autism Spectrum Disorder (ASD) involves neurodevelopmental syndromes with significant deficits in communication, motor behaviors, emotional and social comprehension. Often, individuals with ASD exhibit co-occurring depression characterized by a change in mood and diminished interest in previously enjoyable activities. Due to communicative challenges and a lack of appropriate assessments in this cohort, co-occurring depression can often go undiagnosed during routine clinical examinations and, thus, its management neglected. The literature on co-occurring depression in adults with ASD is limited. Therefore, understanding the neural basis of the co-occurring psychopathology of depression in ASD is crucial for identifying brain-based markers for its timely and effective management. Using structural MRI and phenotypic data from the Autism Brain Imaging Data Exchange (ABIDE II) repository, we examined the pattern of relationship regional grey matter volume (rGMV) has with co-occurring depression and autism severity within regions of a priori interest in adults with ASD (n = 44; age = 17-28 years). Further, we performed an exploratory analysis of the rGMV differences between ASD and matched typically developed (TD, n = 39; age = 18-31 years) samples. The severity of co-occurring depression correlated negatively with the rGMV of the right thalamus. Additionally, a significant interaction was evident between the severity of co-occurring depression and core ASD symptoms towards explaining the rGMV in the left cerebellum crus II. The results further the understanding of the neurobiological underpinnings of co-occurring depression in adults with ASD towards exploring neuroimaging-based biomarkers in the same cohort.
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6. Gay SM, Chartampila E, Lord JS, Grizzard S, Maisashvili T, Ye M, Barker NK, Mordant AL, Mills CA, Herring LE, Diering GH. Developing forebrain synapses are uniquely vulnerable to sleep loss. Proc Natl Acad Sci U S A. 2024; 121(44): e2407533121.
Sleep is an essential behavior that supports lifelong brain health and cognition. Neuronal synapses are a major target for restorative sleep function and a locus of dysfunction in response to sleep deprivation (SD). Synapse density is highly dynamic during development, becoming stabilized with maturation to adulthood, suggesting sleep exerts distinct synaptic functions between development and adulthood. Importantly, problems with sleep are common in neurodevelopmental disorders including autism spectrum disorder (ASD). Moreover, early life sleep disruption in animal models causes long-lasting changes in adult behavior. Divergent plasticity engaged during sleep necessarily implies that developing and adult synapses will show differential vulnerability to SD. To investigate distinct sleep functions and mechanisms of vulnerability to SD across development, we systematically examined the behavioral and molecular responses to acute SD between juvenile (P21 to P28), adolescent (P42 to P49), and adult (P70 to P100) mice of both sexes. Compared to adults, juveniles lack robust adaptations to SD, precipitating cognitive deficits in the novel object recognition task. Subcellular fractionation, combined with proteome and phosphoproteome analysis revealed the developing synapse is profoundly vulnerable to SD, whereas adults exhibit comparative resilience. SD in juveniles, and not older mice, aberrantly drives induction of synapse potentiation, synaptogenesis, and expression of perineuronal nets. Our analysis further reveals the developing synapse as a putative node of convergence between vulnerability to SD and ASD genetic risk. Together, our systematic analysis supports a distinct developmental function of sleep and reveals how sleep disruption impacts key aspects of brain development, providing insights for ASD susceptibility.
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7. Halayem S, Chennoufi F, Ouali U, Lajmi Y, Moumni R, Bouden A, Guesmi L. GAIA therapeutic farm: Prospective study on multidisciplinary care efficacy. Tunis Med. 2024; 102(10): 622-7.
INTRODUCTION: The therapeutic farm « GAIA » in Sidi Thabet is a non-profit organization created in 2009, situated in the North-Western suburbs of the capital Tunis/Tunisia. Its main aims are the day-care for and the socio-professional integration of children and young adults between age 6 and 30 with diverse types of disability through multiple activities, such as pet assisted therapy and horticulture. AIM: to assess the potential benefits of therapeutic on-farm management. METHODS: We conducted a prospective study including 50 children and young adults aged 7 to 30 years with intellectual disabilities and/or autism spectrum disorders. Study participants were evaluated before inclusion and after 10 months of care using a self-established questionnaire collecting socio-demographic and clinical variables, an evaluation of competences, and the Child Behavior Checklist (CBCL). RESULTS: Mean sub scores (externalization/internalization) of CBCL decreased significantly (p<0.002). Competences were significantly improved in the following domains: understanding of verbal language, gross and fine motor skills, body hygiene, spatial and temporal orientation, preschool and school learning achievements and social integration. CONCLUSIONS: These positive initial results should encourage the further development of this initiative with support of the community.
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8. Hunt M, Underwood JFG, Hubbard L, Hall J. Risk of physical health comorbidities in autistic adults: clinical nested cross-sectional study. BJPsych Open. 2024; 10(6): e182.
BACKGROUND: Physical health conditions are more common in individuals with autism. Some, like epilepsy, have considerable evidence supporting their increased prevalence, but many diseases lack literature to make strong conclusions. AIMS: To investigate the prevalence of physical health comorbidities in autism. METHOD: We undertook a nested cross-sectional study, using a sample from the National Centre for Mental Health database. It included participants from England and Wales who reported a clinician-made diagnosis of autism (n = 813), and a control sample without autism or mental illness (n = 2781). Participants had provided a medical history at enrolment. Analysis was carried out by binomial logistic regressions controlling for age, gender, smoking status, and antipsychotic and mood stabiliser use. A subanalysis of individuals with concurrent intellectual disability (n = 86) used binomial logistic regression with the same control variables. RESULTS: Many physical health conditions were significantly more common in autism. Sixteen out of 28 conditions showed increased odds, with the highest odds ratios observed for liver disease, chronic obstructive pulmonary disease, kidney disease, osteoporosis and rheumatoid arthritis. A subanalysis demonstrated a similar pattern of physical health in individuals with autism with and without concurrent intellectual disability. Some conditions, including osteoporosis, hyperthyroidism, head injury and liver disease, had larger odds ratios in individuals with concurrent intellectual disability. CONCLUSIONS: Physical health conditions occur more commonly in individuals with autism, and certain conditions are further increased in those with concurrent intellectual disability. Our findings contribute to prior evidence, including novel associations, and suggest that people with autism are at greater risk of physical health problems throughout adulthood.
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9. Josselsohn A, Zhao Y, Espinoza D, Hollander E. Oxytocin in neurodevelopmental disorders: Autism spectrum disorder and Prader-Willi syndrome. Pharmacol Ther. 2024: 108734.
This manuscript reviews recent work on oxytocin and its use in neurodevelopmental disorders including spectrum disorder (ASD) and Prader-Willi syndrome (PWS). Oxytocin is involved in social recognition, bonding, maternal behaviors, anxiety, food motivation, and hyperphagia. While the pathophysiology of ASD and PWS involve abnormalities in the oxytocin system, clinical trials have shown discrepant results in the effectiveness of oxytocin as a treatment for core symptoms associated with these disorders. In this review, we outline oxytocin’s clinical pharmacology, safety considerations, and results in recent clinical trials. We propose that oxytocin may be most beneficial in these populations if dosed in a dynamic regimen (PRN) and paired with social interventions.
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10. Kaur I, Kamel R, Sultanik E, Tan J, Mazefsky CA, Brookman-Frazee L, McPartland JC, Goodwin MS, Pennington J, Beidas RS, Mandell DS, Nuske HJ. Supporting emotion regulation in children on the autism spectrum: co-developing a digital mental health application for school-based settings with community partners. J Pediatr Psychol. 2024.
OBJECTIVE: KeepCalm is a digital mental health application, co-designed with community partners, that incorporates wearable biosensing with support for teams to address challenging behaviors and emotion dysregulation in children on the autism spectrum. METHODS: We followed a user-centered design framework. Before app development, we conducted design workshops, needs assessment interviews, a systematic review, and created an Expert Advisory Board. Once we had a working prototype, we recruited 73 participants to test and help improve the app across five testing cycles. RESULTS: Participants rated the app across testing cycles as highly acceptable, appropriate, feasible, and with good usability. Qualitative data indicated that KeepCalm helped teachers (a) be aware of students’ previously unrealized triggers, especially for nonspeaking students; (b) prevent behavioral episodes; (c) communicate with parents about behaviors/strategies; and (d) equipped parents with knowledge of strategies to use at home. We learned that in order to make the app acceptable and appropriate we needed to make the app enjoyable/easy to use and to focus development on novel features that augment teachers’ skills (e.g., behavioral pattern and stress detection). We also learned about the importance of maximizing feasibility, through in-person app training/support especially regarding the wearable devices, and the importance of having aides involved. CONCLUSION: Our findings have informed plans for wider-scale feasibility testing so that we may examine the determinants of implementation to inform adaptations and refinement, and gather preliminary efficacy data on KeepCalm’s impact on reducing challenging behaviors and supporting emotion regulation in students on the autism spectrum.
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11. Kearney J, Bosyj C, Rombos V, Curran AB, Clark B, Cornell W, Mah S, Mahurin M, Piroddi N, Sohl K, Zwaigenbaum L, Penner M. Community Provider Perspectives on an Autism Learning Health Network: A Qualitative Study. J Autism Dev Disord. 2024.
Although autism is highly prevalent, no single care center has enough patients to produce generalizable knowledge of optimal care; this slows the pace of quality improvement research. The Autism Care Network (ACNet) is a learning health network (LHN) dedicated to developing the most effective approach to care for autistic children and adolescents through integrating clinical and research data. Given that most autistic patients receive care in the community, expanding ACNet to include community providers is essential to improve autism care. Our objectives were to: (1) understand the current data collection practices, learning needs, capacity, and overall interest of community clinicians in participating in an autism LHN; (2) identify their perspectives on participating in a LHN and ways in which their engagement and interest can be cultivated. Participants were purposively sampled from community physicians who participated in ASD-focused educational programming. In-depth semi-structured interviews were conducted. Analysis of 29 participant interviews yielded five primary themes: Navigating Administrative Challenges, Improving Data Collection Practices, Increasing Provider Confidence and Competence, Breaking Down Silos, and System and Societal Barriers to Achieving Best Practices. This study provides a rich and nuanced understanding of the experiences of community providers regarding the challenges of ASD care provision in the community. Overall, these findings suggest that LHNs have the potential to address several of the issues in community autism care highlighted by community providers.
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12. Kung KTF. The Chinese 10-Item Empathy Quotient and Systemising Quotient-Revised: Internal Consistency, Test-Retest Reliability, Known-Groups Validity, and Sex Differences in Autistic and Non-Autistic Adults. J Autism Dev Disord. 2024.
PURPOSE: The 10-item version of the Empathy Quotient (EQ-10) and the Systemising Quotient-Revised (SQ-R-10) were originally developed in the English-speaking population. However, little is known about the reliability of these measures. There is also extremely limited research translating or evaluating any translated version of these 10-item measures. The present study translated the measures into Chinese and evaluated the Chinese 10-item EQ (C-EQ-10) and SQ-R (C-SQ-R-10). METHODS: An online survey consisting of the C-EQ-10 and the C-SQ-R-10 was completed by 698 non-autistic adults and 43 autistic adults in Hong Kong. RESULTS: Internal consistency of the measures was satisfactory in the autistic group (α = 0.60-0.63) and good in the non-autistic group (α = 0.76-0.82). Test-retest reliability was high in both the autistic group (r = .76-0.81) and the non-autistic group (r = .80-0.84). On average, the autistic group had significantly lower empathising than did the non-autistic group (Cohen’s d = -1.21), and there was a trend of higher systemising in the autistic group than in the non-autistic group (Cohen’s d = 0.20). On average, within the non-autistic group, males had significantly lower empathising (Cohen’s d = -0.57) and significantly higher systemising (Cohen’s d = 0.33) than did females. These average sex differences were attenuated and non-significant in the autistic group. Distribution patterns of « brain types » based on empathising-systemising difference scores seem to suggest that « brain types » are shifted towards systemising types in autistic or male participants. CONCLUSION: The C-EQ-10 and the C-SQ-R-10 are valid and reliable measures.
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13. Lin IY, Stahmer AC, Feinberg E, Feldman HM, Deras M, Augustyn M. Challenging Case: Family Navigation for Autism Spectrum Disorder. J Dev Behav Pediatr. 2024.
Leo is a 28-month-old boy from a monolingual Spanish-speaking family who was referred to a developmental-behavioral pediatrics (DBP) clinic for concerns regarding autism. His parents migrated to the United States 8 years ago and currently live and work on a farm. He was born in a US hospital after an uncomplicated pregnancy and has been generally healthy. His parents first became concerned about his development when he was 16 months old. He stopped saying mama/dada in Spanish and started lining up random objects. He had frequent temper tantrums and was difficult to console during unexpected changes in his routine. He screened positive on the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) at his 18-month well-child visit, and his pediatrician referred him to the local early intervention program. Calls from the early intervention program to his parents were unanswered. At his 24-month well-child visit, he again screened positive on the M-CHAT-R/F, and his pediatrician placed a referral for a DBP consultation. During the DBP visit at 28 months of age, developmental testing indicated his receptive and expressive language skills to be in the extremely low range, with significant scatter in his cognitive and adaptive skills. Behavioral observations were consistent with parental history and showed differences in social communication and interaction, the presence of repetitive behaviors, and extreme distress with transitions. He was diagnosed with autism spectrum disorder. Recommendations, including referral to early intervention, applied behavior analysis therapy, speech and language therapy, audiology evaluation, and genetic testing, were discussed with his parents through an interpreter. An autism packet, written in Spanish, with detailed information about autism and community resources was given to the family. By the time of a follow-up DBP visit 6 months later, Leo had not started on any early intervention or therapeutic services. Where do you go from here?
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14. Liu P, Zhou J, Zhang L, Ji H, Xu J, Xu Q, Yao M, Chi X, Qian J, Hong Q. A longitudinal study on the development trajectory of auditory processing and its relationship with language development in Chinese preschool children with autism spectrum disorder: study protocol. BMC Psychiatry. 2024; 24(1): 723.
BACKGROUND: It was reported that more than 96% of autism spectrum disorder (ASD) children are accompanied with different degrees of sensory processing abnormalities, and up to 50% of ASD children exhibit abnormal auditory response. Studies have confirmed that some ASD children’s abnormal auditory response may be related to their abnormal auditory processing. Prior research demonstrated that ASD children’s auditory processing has high heterogeneity, thus, ASD children’s auditory processing may have different developmental trajectories. However, no study has concentrated on the developmental trajectories of ASD children’s auditory processing. In addition, auditory processing plays a crucial role in ASD children’s language development, thus, ASD children’s different language development outcomes may be related to different auditory processing development tracks. Therefore, this study aims to explore the developmental trajectory of auditory processing in ASD children and analyze the relationship between different developmental trajectories of auditory processing and language impairment. METHODS/DESIGN: In this study, 220 ASD children aging 3 years and 0 months to 4 years and 11 months are recruited as the research objects, and their demographic characteristics are collected. The subjects are tested for peripheral hearing, intelligence, and autism symptoms. Furthermore, ASD children’s auditory processing and language development are evaluated at baseline, 1 year, and 2 years later. In addition, ASD children’s auditory processing is evaluated by electrophysiological test and the Preschool Auditory Processing Assessment Scale. Moreover, ASD children’s language skills are assessed using the Language Development Assessment Scale for Children Aged 1-6. The various categories of the developmental trajectory of ASD children’s auditory processing are examined through the latent category growth model. Additionally, a hierarchical regression model is developed to analyze the predictive impact of different auditory processing development trajectories on language impairment in ASD children. DISCUSSION: This longitudinal study will explore the categories of auditory processing developmental trajectories in ASD children, and analyze the relationship between different categories of auditory processing developmental trajectories and language development, providing new ideas and targeted targets for the rehabilitation training of language impairment in ASD children, as well as promoting early and accurate interventions for ASD children.
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15. Mead J, Lee TJ, Bullot A. Sociodemographic and Clinical Profile of 915 Autistic Preschoolers Engaged in Intensive Early Intervention in Australia. J Autism Dev Disord. 2024.
There is a paucity of information on the sociodemographic and clinical characteristics of autistic children with high support needs. This study aims to address this gap by profiling a cohort of 915 children enrolled in full-time early intervention for autism spectrum disorder (ASD) in Australia between 2012 and 2024. Intake questionnaires assessed the sociodemographic characteristics of families entering the service. Clinical measures included the Autism Diagnostic Observation Schedule (2nd ed.), Mullen Scales of Early Learning, and Vineland Adaptive Behaviour Scale (2nd and 3rd eds.). Family measures included the Parenting Stress Index (4th ed., Short Form) and Autism Family Experience Questionnaire. Results indicated a male to female ratio of 3.8:1, clear delays from the age of first concern to diagnosis and intervention, and notable proportions of culturally diverse families. While clinical data indicated cognitive and adaptive deficits beyond findings in other ASD studies, measures of stress and family experiences were comparable to other autism literature. By reporting these findings, this study aims to facilitate a more informed, tailored and nuanced approach to addressing the unique challenges faced by autistic children with high support needs. The scope and limitations of this cohort are discussed.
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16. Morinaga M, Ahlqvist VH, Lundberg M, Hollander AC, Rai D, Magnusson C. Changes in the prevalence of intellectual disability among 10-year-old children in Sweden during 2011 through 2021: a total population study. J Neurodev Disord. 2024; 16(1): 58.
BACKGROUND: Recent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence. METHODS: We used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors. RESULTS: Among 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59-0.69%) in 2011 to 1.00% (0.94-1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04-1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors. CONCLUSION: The recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child’s birth. The increase instead may be due to changes in diagnostic practices in Sweden over time.
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17. Parmar K, Porter C, Dickinson C, Baimbridge P, Gowen E. Refractive and ocular motor status in autistic adults without learning disabilities: an exploratory study. Clin Exp Optom. 2024: 1-9.
CLINICAL RELEVANCE: Refractive and ocular motor anomalies may be more prevalent among autistic adults without learning disabilities, compared to a non-autistic clinical population. In line with current guidance, optometrists should exclude these anomalies prior to prescribing tinted lenses. BACKGROUND: Autistic adults report various visual experiences with largely negative consequences on daily living. Some of these overlap with symptoms of refractive and ocular motor anomalies. Therefore, this study investigated refractive and ocular motor status, and pattern glare, in autistic adults without learning disabilities. The impact of appropriate treatment on visual experiences was explored. METHODS: Twenty four autistic adults, aged 19-67 years, underwent an eye examination involving refraction, ocular motor and pattern glare assessments. Based on pre-determined criteria, anomalies were treated with spectacles, orthoptic exercises, or tinted lenses. Participants completed three questionnaires (Glasgow Sensory Questionnaire, Visual Function Index and Convergence Insufficiency Symptoms Survey) at the start and end of the study to assess the impact of treatment. RESULTS: Relative to population norms, a notable proportion of participants had: a significant change in refractive correction (83.3%); accommodative infacility (72.7%); convergence insufficiency (37.5%); uncompensated distance dissociated heterophoria (33.3%); significant accommodative inaccuracy (27.2%); and positive pattern glare (25%). All participants required treatment. 16.7% were given orthoptic exercises only. New spectacles were dispensed to 79.2%, followed by 16.7% requiring orthoptic exercises and 4.2% dispensed tinted lenses. Questionnaire scores did not significantly change post-treatment. CONCLUSION: This exploratory study suggests autistic adults may be more likely to present with refractive, ocular motor and pattern glare issues. Impacts on autistic visual sensory experiences, vision-related quality of life and visual function remain unclear. Pattern Glare Test scores of autistic adults appear to be reduced by appropriate refractive and/or ocular motor management. Therefore, optometrists should take a conservative approach, managing refraction and ocular motor status of autistic patients prior to considering tinted lenses.
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18. Posar A, Visconti P. Gut Microbiota Alterations in Autism Spectrum Disorder. Turk Arch Pediatr. 2024; 59(5): 506-7.
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19. Resende V, Woldesenbet S, Katayama E, Munir MM, Lima HA, Khalil M, Rawicz-Pruszyński K, Khan MMM, Waqar U, Mavani P, Endo Y, Pawlik TM. Association of Intellectual and Developmental Disabilities With Worse Outcomes After Surgical Treatment of Cancer. J Natl Compr Canc Netw. 2024: 1-7.
BACKGROUND: Patients with intellectual and developmental disabilities (IDD) face unique challenges resulting in disparities in their health care. We sought to define the effect that IDD had on achievement of a « textbook outcome » (TO) following a cancer operation among a nationally representative cohort of patients. METHODS: Data on patients who underwent surgery for a malignant indication, including lung, breast, liver, biliary tract, pancreas, and colorectal, between 2014 and 2020 were extracted from the 100% Medicare Standard Analytical Files database. The association of IDD with TO (defined as the absence of postoperative complications, extended length of stay, 90-day readmission, and 90-day mortality), expenditures, and discharge status was assessed using multivariable logistic regression. RESULTS: Among 500,472 Medicare beneficiaries, 4,326 (0.9%) with IDD had a cancer diagnosis (breast, n=481; lung, n=419; hepatobiliary, n=194; pancreas, n=145; colorectal, n=3,087). Although overall incidence of TO was 50.5%, patients with IDD were less likely to achieve a TO than those without (37.1% vs 50.6%, respectively; odds ratio [OR], 0.50; 95% CI, 0.46-0.53; P<.001). On multivariable regression, patients with IDD had higher odds of a postoperative complication (OR, 1.53; 95% CI, 1.43-1.64), extended length of stay (OR, 2.06; 95% CI, 1.93-2.21), 90-day readmission (OR, 1.15; 95% CI, 1.07-1.24), 90-day mortality (OR, 1.90; 95% CI, 1.70-2.13), and discharge to a skilled nursing facility (OR, 4.28; 95% CI, 3.97-4.62) (all P<.001). CONCLUSIONS: Patients with IDD had a much lower chance of a postoperative TO, as well as discharge to a nonhome setting. The data highlight the need to improve the care of patients with IDD to assure equitable oncologic surgical care.
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20. Uysal G, Karakul A, Düzkaya DS. Emotions and difficulties experienced by parents of children with autism: A qualitative study. J Eval Clin Pract. 2024.
RATIONALE: This study was performed to determine the difficulties experienced by the parents of children with autism. METHODS: A qualitative method was used to determine the difficulties experienced by the parents. The sample of the study consisted of parents with 24 children with autism who met the inclusion criteria. The data were analysed by the MAXQDA qualitative data analysis programme in accordance with Colaizzi’s seven-stage method. RESULTS: Total of 5 themes and 29 codes were gathered in line with the data obtained from the interviews. Five main themes of the interviews emerged; emotions experienced by parents; adaptation to family life; difficulty in social relationships; limited opportunity for entertainment/activity and financial difficulty. Parents whose income were less than or equal to their expenses particularly stated that they had economic difficulties in the transportation of their children to places such as hospitals/schools/special education. CONCLUSION: In accordance with the findings of this study, it was determined that almost all of the parents with a child diagnosed with autism experienced sadness, denial, shock, depression, self-blame in the period when their children were first diagnosed, and later accepted the disease. In addition, it was detected that parents had difficulties in family relations, social relations, entertainment/activity and economic aspects.
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21. Yoshida F, Nagatomo R, Utsunomiya S, Kimura M, Shun S, Kono R, Kato Y, Nao Y, Maeda K, Koyama R, Ikegaya Y, Lichtenthaler SF, Takatori S, Takemoto H, Ogawa K, Ito G, Tomita T. Soluble form of Lingo2, an autism spectrum disorder-associated molecule, functions as an excitatory synapse organizer in neurons. Transl Psychiatry. 2024; 14(1): 448.
Autism Spectrum Disorder (ASD) is a developmental disorder characterized by impaired social communication and repetitive behaviors. In recent years, a pharmacological mouse model of ASD involving maternal administration of valproic acid (VPA) has become widely used. Newborn pups in this model show an abnormal balance between excitatory and inhibitory (E/I) signaling in neurons and exhibit ASD-like behavior. However, the molecular basis of this model and its implications for the pathogenesis of ASD in humans remain unknown. Using quantitative secretome analysis, we found that the level of leucine-rich repeat and immunoglobulin domain-containing protein 2 (Lingo2) was upregulated in the conditioned medium of VPA model neurons. This upregulation was associated with excitatory synaptic organizer activity. The secreted form of the extracellular domain of Lingo2 (sLingo2) is produced by the transmembrane metalloprotease ADAM10 through proteolytic processing. sLingo2 was found to induce the formation of excitatory synapses in both mouse and human neurons, and treatment with sLingo2 resulted in an increased frequency of miniature excitatory postsynaptic currents in human neurons. These findings suggest that sLingo2 is an excitatory synapse organizer involved in ASD, and further understanding of the mechanisms by which sLingo2 induces excitatory synaptogenesis is expected to advance our understanding of the pathogenesis of ASD.
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22. Yoshizawa S, Ohashi K, Sugihara T. Urethral keratosis caused by vitamin A deficiency: two case reports. BMC Pediatr. 2024; 24(1): 676.
BACKGROUND: Dysuria in children can have various etiologies, including ureteric stones, phimosis, congenital obstructive posterior urethral membrane, and neurogenic bladders. However, there have been no reports of vitamin A deficiency (VAD) causing dysuria due to urethral keratosis. Here, we report two cases of urethral keratosis caused by a VAD. CASE PRESENTATION: An 8-year-old boy (Patient 1) and a 6-year-old boy (Patient 2) presented with multiple episodes of dysuria and epididymitis. Both patients had intellectual disabilities and autism, which prevented voiding cystourethrography. Therefore, the patient was admitted for cystoscopy under general anesthesia. Cystoscopy revealed urethral diastolic dysfunction and a large amount of desquamated epithelium obstructing the urethra in both patients, causing urinary obstruction and dysuria. Catheterization was repeated; however, the symptoms recurred after catheter removal. Although the cause of recurrent urinary obstruction could not be initially identified, an ophthalmologist found Bitot’s spots and suggested the possibility of a VAD. Serum vitamin A levels were extremely low in both patients, leading to the diagnosis of urethral keratosis due to VAD. VAD can be attributed to an unbalanced diet resulting from intellectual disabilities or autism. Vitamin A replacement therapy improved both the urethral symptoms and cystoscopic findings. CONCLUSION: Dysuria due to VAD is extremely rare, and urethral keratosis as a cause of dysuria is likely the first report of its kind worldwide. VAD may develop due to an unbalanced diet in patients with intellectual disabilities or autism. Therefore, it is essential to consider VAD as a potential cause of dysuria in patients with intellectual disabilities and autism.