Pubmed du 09/09/24
1. Alexander J, Siluvai S, George AM, K PI, Lazar VR, Kshetrimayum N. Navigating Barriers to Oral Health Challenges Faced by Children With Autism Spectrum Disorder: A Scoping Review. Cureus;2024 (Aug);16(8):e66493.
This article identifies the multifaceted challenges that hinder optimal oral health among children diagnosed with autism spectrum disorder (ASD). While dental care is a fundamental aspect of overall well-being, children with ASD encounter unique obstacles that often go unnoticed. Drawing from a comprehensive review of existing literature and insights from healthcare professionals, this article explores the sensory sensitivities, communication difficulties, and behavioral issues that contribute to suboptimal oral hygiene in this demographic. We also discuss the critical role of caregivers, dentists, and educators in addressing these challenges, emphasizing the importance of early intervention and tailored strategies to improve the oral health of children with ASD. By shedding light on these obstacles, this article aims to foster a more inclusive and holistic approach to oral healthcare for children with ASD, ultimately enhancing their overall quality of life.
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2. Britt MC, Sepe EA, Green MA. Third Molar Extractions in Patients With Developmental Disabilities. J Oral Maxillofac Surg;2024 (Aug 22)
BACKGROUND: Patients with developmental disabilities may exhibit behavioral problems or be unable to maintain proper hygiene, potentially placing them at greater risk for infection following the extraction of third molars. PURPOSE: The purpose of this study was to estimate and compare the risk for surgical site infection after third molar removal between patients with and without developmental disabilities. STUDY DESIGN, SETTING, SAMPLE: This was a retrospective cohort study of patients who underwent extraction of all four-third molars at Boston Children’s Hospital from August 1, 2021, to July 31, 2023. Patients were excluded if all four-third molars were not present or if all four-third molars were not extracted during one visit. PREDICTOR VARIABLE: The primary predictor variable was developmental disability status. Subjects were grouped by developmental disability, coded as present or absent. MAIN OUTCOME VARIABLE: The primary outcome variable was diagnosis of a postoperative surgical site infection. Secondary outcomes included time to follow-up and infection treatment. COVARIATES: Covariates included age, sex, race, ethnicity, procedure setting, anesthesia type, and impaction status. ANALYSES: Independent Samples T-tests, χ(2) tests, and Fisher’s Exact tests were used for analysis. RESULTS: A total of 1,896 subjects were evaluated. There were 236 subjects in the developmental disability group (72.5% male [n = 171] mean age of 19.3 ± 2.7 years) and 1,660 in the nondevelopmental disability group (53.4% female [n = 887] mean age of 19.0 ± 2.3 years). Subjects in the developmental disability group more frequently underwent their extractions in the operating room under general anesthesia (57.6% [n = 136] P < .001). The overall postoperative infection rate was 2.7% (n = 52). There was no statistically significant difference in the rate of infection between the developmental disability group (0.8% [n = 2]) and the nondevelopmental disability group (3.0% [n = 50]) (P = .057). There was no significant difference in time to follow-up between subjects who were and were not diagnosed with an infection (6.26 ± 9.39 weeks vs 4.69 ± 10.95 weeks, P = .434) or for subjects in the developmental disability and nondevelopmental disability group who had an infection (2.64 ± 0.30 weeks vs 6.43 ± 9.76 weeks, P = .588). CONCLUSION AND RELEVANCE: Patients with a developmental disability do not exhibit higher rates of postoperative infections following third molar extractions when compared to patients without developmental disabilities.
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3. Casavant D. The Wonder of Rett Syndrome. J Christ Nurs;2024 (Oct-Dec 01);41(4):262.
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4. Chisari D, Vitkovic J, Clark R, Rance G. Vestibular Function and Postural Control in Children with Autism Spectrum Disorder. J Clin Med;2024 (Sep 9);13(17)
Background: Postural control deficits have been documented in children with autism spectrum disorder (ASD), yet vestibular system contributions to postural control have not been widely considered. The purpose of this study is to explore the relationship between functional balance, postural sway, and vestibular function in children with ASD. Methods: Ten children with a confirmed diagnosis of ASD according to DSM-V guidelines along with ten children with no known neurodevelopmental or motor delays participated in the study. Bruininks-Oseretsky Test of Motor Proficiency and the Paediatric Balance Scale measured functional balance ability, and postural sway was measured using static posturography with modified sensory inputs. Peripheral vestibular function was measured using cervical vestibular evoked myogenic potentials and video head impulse testing. Correlations between measures were performed. Results: When visual cues were removed, children with ASD demonstrated larger path velocities indicative of reduced postural control, and different patterns of postural sway. Functional balance was correlated with path velocities for conditions where sensory information was modified. No differences in peripheral vestibular function were noted between groups, and functional balance was not correlated with vestibular function. Conclusions: Findings suggest that while peripheral vestibular function is similar between groups, postural control differences in children with ASD remain, particularly for conditions where sensory information is modified. Furthermore, demonstrated patterns of postural sway suggest sensory system integration is less developed in children with ASD. These findings highlight the importance of utilising a range of clinical tools to quantify balance ability and consideration of postural control measures to inform intervention.
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5. Dale N, Sakkalou E, Eriksson MH, Salt A. Modification and Validation of an Autism Observational Assessment Including ADOS-2(®) for Use with Children with Visual Impairment. J Autism Dev Disord;2024 (Sep 9)
Children with visual impairment (VI) are at risk of autism spectrum disorder (ASD); however standard observational diagnostic assessments are not validated for this population. The primary objective of the study is to validate a modified version of the Autism Diagnostic Observation Schedule (ADOS-2(®), Module 3), for children with VI. A cross-sectional observational study was undertaken with 100 (mean 5½ years, SD 10.44 months, range 4-7 years; 59 (59%) males) children with congenital disorders of the peripheral visual system with moderate/severe-profound VI. As the primary objective, 83 (83%) who were ‘verbally fluent’ were assessed with the modified ADOS-2(®) (Module 3). Their scores were investigated for reliability, construct and criterion validity against expert clinician formulation and parent-rated social and communication questionnaires (Social Responsiveness Scale-2, SRS-2; Children’s Communication Checklist-2). The secondary objective with the total sample was to report on frequency and distribution of ASD ratings in this VI population. The modified ADOS-2(®) (Module 3) was found to have strong internal coherence and construct validity (two factor model) and inter-rater reliability. A new VI diagnostic algorithm was established which showed high sensitivity and specificity against clinician formulation. Using the best cut-off threshold for ‘High Risk for ASD’, strong concurrent criterion validity was found according to parent-rated scores on the SRS-2. The modified ADOS-2(®) (Module 3) was shown to have promising reliability and validity in establishing children at ‘High Risk of ASD’ in this vulnerable population. Elevated rates of ASD were found across the sample, in line with previous estimates.
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6. Fox L, Asbury K. « I need them for my autism, but I don’t know why »: Exploring the friendship experiences of autistic children in UK primary schools. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241275934.
BACKGROUND AND AIMS: Autistic children can experience challenges in making and maintaining friendships, and middle childhood (ages 6-12) may be particularly challenging as social networks become more complex. However, a large proportion of research into these experiences is based on adult reports or focuses on the experiences of adolescents, meaning that the voices of younger children are absent. Due to the exclusion of younger children from research, we have a limited understanding of their first-hand experiences of their friendships and the support they receive, which has implications for friendship support and wellbeing. This study aimed to amplify the voices of younger autistic children to explore their first-hand experiences of friendships and highlight areas of social support which may be most beneficial to primary-aged autistic children. METHODS: This study used novel creative methods to support interviews with 19 autistic primary school-aged children to explore their experiences of friendship. Parent-led interviews and scrapbooks supported the children in discussing the challenges and strengths of their friendships. RESULTS: Children discussed the challenges and strengths of their friendships including the impact of social norms on the need to have friends and their support needs in this area of life. Children also discussed gaps in their current friendships and how they would like to see these filled. It was clear that not all children required or wanted neurotypical-style friendships, with many valuing companionship and gameplay over intimacy. Analysis highlighted the heterogeneity of autistic children’s friendships, especially in relation to gender and age, calling for more tailored and individualized support. CONCLUSION AND IMPLICATIONS: Results from the current study show that autistic children can and do have successful friendships but that these friendships may differ from those of their non-autistic peers. The study further adds to the existing literature by showing that younger autistic children can be included in research by using differentiated, accessible and creative methods, and that they are able to voice their opinions on matters surrounding support. It also calls for a tailored approach to supporting autistic children in school and speaking with children to give them autonomy over the support they want to receive.
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7. Givon-Benjio N, Marx T, Hartston M, Aderka IM, Hadad BS, Okon-Singer H. The relationship between interpersonal distance preference and estimation accuracy in autism. PLoS One;2024;19(9):e0306536.
People naturally seek an interpersonal distance that feels comfortable, striking a balance between not being too close or too far from others until reaching a state of equilibrium. Previous studies on interpersonal distance preferences among autistic individuals have yielded inconsistent results. Some show a preference for greater distance, while others indicate a preference for shorter distances, or reveal higher variance in preferences among autistic individuals. In a related vein, previous studies have also investigated the way autistics accurately judge distance, and these studies have received inconsistent results, with some showing superior spatial abilities and others indicating biases in distance estimations. However, the link between distance estimation and preference has never been examined. To address this gap, our study measured interpersonal distance preferences and estimations and tested the correlation between the two factors. The results indicate greater variance among autistic people in both the preference of distance and the ability to estimate distance accurately, suggesting that inconsistencies in previous studies originate from greater individual differences among autistics. Furthermore, only among autistic individuals were interpersonal distance preference and estimation bias associated in a manner that violated equilibrium. Underestimation bias (judging others as closer than they are) was linked to a preference for closer proximity, while overestimation bias (judging others as further away) was associated with a preference for maintaining a greater distance. This connection suggests that biases in the estimation of interpersonal distance contribute to extreme preferences (being too close or too far away). Taken together, the findings suggest that biases in the estimation of interpersonal distance are associated with socially inappropriate distance preferences among autistics.
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8. Gratacós Arenas MA, Soler Portilla C, Carlo S, Arciniegas NJ. Neurodevelopmental Disorders and the Mystery of the Genes Involved: A Case Report of a BICRA Heterozygous Mutation Identified in Autism Spectrum Disorder. Cureus;2024 (Aug);16(8):e66442.
Pathogenic variants in the BRD4 interacting chromatin remodeling complex associated protein (BICRA) are linked to BICRA-related neurodevelopmental disorders. These disorders are characterized by developmental delay, intellectual disability, and dysmorphic facial features, along with behavioral abnormalities, poor growth, vision abnormalities, and feeding difficulties. We present the case of a three-year-old male diagnosed with autism spectrum disorder (ASD), developmental speech delay, and epilepsy. Whole exome sequencing with copy number variant (CNV) analysis revealed a heterozygous variant of uncertain significance in the BICRA gene (c.1246G>C, p.Ala416Pro). This case report aims to highlight a gene associated with BICRA-related neurodevelopmental disorders that is rarely described in ASD patients. Further research is crucial to explore the role of chromatin remodeling in the etiology and development of ASD.
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9. Hamrick LR, Ros-Demarize R, Kanne S, Carpenter LA. Profiles of nonverbal skills used by young pre-verbal children with autism on the ADOS-2: Relation to screening disposition and outcomes. Autism Res;2024 (Sep 9)
Autistic individuals exhibit differences in their use and understanding of nonverbal communication; however, individual patterns of nonverbal strengths and challenges vary significantly. This heterogeneity can complicate the diagnostic and screening processes and can result in delayed or missed diagnoses. In this study, we characterize various profiles of nonverbal communication skills among 215 pre-verbal children with autism (M(age) = 36.27 months, range = 18-70) and explore how these profiles are related to screening outcomes, diagnostic certainty, and developmental and behavioral features. We conducted a latent class analysis of nine items assessing nonverbal communication skills from the Toddler Module and Module 1 of the Autism Diagnostic Observation Schedule, 2nd Edition. Five nonverbal profiles were identified that differentiated children based on the form, function, and frequency of their nonverbal communication skills. Furthermore, screening outcomes and clinician certainty in autism diagnosis varied by nonverbal profile. False negative screening outcomes based on parent report were highest for children who used a range of nonverbal skills but with limited frequency or consistency. Clinicians, on the other hand, tended to have high certainty in an autism diagnosis for children with this profile, and instead rated their lowest certainty in diagnosing children who demonstrated consistent integration of eye contact with their nonverbal communication. The profiles identified in this study could be clinically useful in helping to identify children at highest likelihood of being overlooked during the screening or diagnostic processes, providing an opportunity to improve early identification and intervention for autism.
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10. Kaminskaya YP, Ilchibaeva TV, Shcherbakova AI, Allayarova ER, Popova NK, Naumenko VS, Tsybko AS. Brain-Derived Neurotrophic Factor (BDNF) in the Frontal Cortex Enhances Social Interest in the BTBR Mouse Model of Autism. Biochemistry (Mosc);2024 (Aug);89(8):1509-1518.
A large body of evidence implies the involvement of brain-derived neurotrophic factor (BDNF) in the pathogenesis of autism spectrum disorders (ASDs). A deficiency of BDNF in the hippocampus and frontal cortex of BTBR mice (a model of autism) has been noted in a number of studies. Earlier, we showed that induction of BDNF overexpression in the hippocampus of BTBR mice reduced anxiety and severity of stereotyped behavior, but did not affect social interest. Here, we induced BDNF overexpression in the frontal cortex neurons of BTBR mice using an adeno-associated viral vector, which resulted in a significant increase in the social interest in the three-chamber social test. At the same time, the stereotypy, exploratory behavior, anxiety-like behavior, and novel object recognition were not affected. Therefore, we have shown for the first time that the presence of BDNF in the frontal cortex is critical for the expression of social interest in BTBR mice, since compensation for its deficiency in this structure eliminated the autism-like deficiencies in the social behavior characteristic for these animals.
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11. Lindig K, Madison S, Kouros C, Ekas N. Physiological and Family-Level Correlates of Autistic Adolescents’ Sleep Quality. J Autism Dev Disord;2024 (Sep 9)
PURPOSE: Autistic adolescents commonly experience sleep-related difficulties and prior studies have sought to separately examine physiological and family-level predictors of their sleep quality. The current study aimed to conceptually replicate and extend to an adolescent sample a prior study that found respiratory sinus arrhythmia was associated with sleep quality in autistic children. In addition, the current study also examined whether the quality of the family environment was associated with sleep quality in autistic adolescents. METHODS: The sample consisted of 107 autistic adolescents who completed a baseline measure of respiratory sinus arrhythmia and then watched a video of their parents engaged in a discussion about a topic of disagreement while their respiratory sinus arrhythmia reactivity was measured. Adolescents also completed questionnaires measuring their sleep quality and family environment. RESULTS: In regression models, adolescents’ physiological functioning was not a significant predictor of their sleep quality; however, adolescents living in poorer quality family environments reported worse sleep quality after controlling for their physiological functioning. The interaction between physiological functioning and the family environment predicting sleep quality was non-significant. CONCLUSION: Although the current study did not conceptually replicate prior work, the findings highlight the importance of the family environment for adolescents’ sleep. Implications and future directions are discussed.
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12. Morin-Parent F, Champigny C, Côté S, Mohamad T, Hasani SA, Çaku A, Corbin F, Lepage JF. Neurophysiological effects of a combined treatment of lovastatin and minocycline in patients with fragile X syndrome: Ancillary results of the LOVAMIX randomized clinical trial. Autism Res;2024 (Sep 9)
Fragile X syndrome (FXS) is the primary hereditary cause of intellectual disability and autism spectrum disorder. It is characterized by exacerbated neuronal excitability, and its correction is considered an objective measure of treatment response in animal models, a marker albeit rarely used in clinical trials. Here, we used an extensive transcranial magnetic stimulation (TMS) battery to assess the neurophysiological effects of a therapy combining two disease-modifying drugs, lovastatin (40 mg) and minocycline (100 mg), administered alone for 8 weeks and in combination for 12 weeks, in 19 patients (mean age of 23.58 ± 1.51) with FXS taking part in the LOVAmix trial. The TMS battery, which included the resting motor threshold, short-interval intracortical inhibition, long-interval intracortical inhibition, corticospinal silent period, and intracortical facilitation, was completed at baseline after 8 weeks of monotherapy (visit 2 of the clinical trial) and after 12 weeks of dual therapy (visit 4 of the clinical trial). Repeated measure ANOVAs were performed between baseline and visit 2 (monotherapy) and visit 3 (dual therapy) with interactions for which monotherapy the participants received when they began the clinical trial. Results showed that dual therapy was associated with reduced cortical excitability after 20 weeks. This was reflected by a significant increase in the resting-motor threshold after dual therapy compared to baseline. There was a tendency for enhanced short-intracortical inhibition, a marker of GABAa-mediated inhibition after 8 weeks of monotherapy compared to baseline. Together, these results suggest that a combined therapy of minocycline and lovastatin might act on the core neurophysiopathology of FXS. This trial was registered at clinicaltrials.gov (NCT02680379).
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13. Murphy VE, Whalen OM, Williams EJ, Gibson PG, Campbell LE, Karayanidis F, Mallise CA, Woolard A, Robijn AL, Mattes J, Collison AM, Lane AE, Baines KJ. Autism likelihood in infants born to mothers with asthma is associated with blood inflammatory gene biomarkers in pregnancy. Brain Behav Immun Health;2024 (Oct);40:100845.
Mothers with asthma or atopy have a higher likelihood of having autistic children, with maternal immune activation in pregnancy implicated as a mechanism. This study aimed to determine, in a prospective cohort of mothers with asthma and their infants, whether inflammatory gene expression in pregnancy is associated with likelihood of future autism. Mothers with asthma were recruited to the Breathing for Life Trial. RNA was extracted from blood samples collected at mid-pregnancy. 300 ng total RNA was hybridized with the nCounter Human Inflammation gene expression panel (Nanostring Technologies, 249 inflammation-related genes). Parents completed the First Year Inventory (FYI) at 12-month follow-up, which assessed an infant’s likelihood for autism across 2 behavioural domains: social communication and sensory regulation. A total score ≥19.2 indicated increased likelihood for future autism. Inflammatory gene expression was profiled from 24 mothers: four infants scored in the high autism likelihood range; 20 scored in the low autism likelihood range. Six inflammatory genes were differentially expressed and significantly up-regulated in the high autism likelihood group: CYSLTR2, NOX1, C1QA, CXCL10, C8A, IL23R. mRNA count significantly correlated with social communication FYI score for CYSLTR2 (Pearson r = 0.46, p = 0.024) and CXCL10 (r = 0.43, p = 0.036) and with sensory regulation score for ALOX5 (r = -0.43, p = 0.038) and MAFK (r = -0.46, p = 0.022). In this proof-of-concept study, inflammatory gene expression during pregnancy in mothers with asthma was associated with an infant’s likelihood of future autism as well as scores relating to social communication and sensory regulation.
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14. Percy AK, Ananth A, Neul JL. Rett Syndrome: The Emerging Landscape of Treatment Strategies. CNS Drugs;2024 (Sep 9)
Rett syndrome (RTT) has enjoyed remarkable progress in achieving specific therapies. RTT, a unique neurodevelopmental disorder first described in 1966, progressed slowly until the landmark paper of Hagberg and colleagues in 1983. Thereafter, rapid advances were achieved including the development of specific diagnostic criteria and the active search for a genetic etiology, resulting 16 years later in identification of variants in the methyl-CpG-binding protein (MECP2) gene located at Xq28. Shortly thereafter, the NIH Office of Rare Diseases funded the RTT Natural History Study (NHS) in 2003, initiating the acquisition of natural history data on clinical features from a large population of individuals with RTT. This information was essential for advancement of clinical trials to provide specific therapies for this disorder. In the process, the International Rett Syndrome Association (IRSA) was formed (now the International Rett Syndrome Foundation-IRSF), which participated directly in encouraging and expanding enrollment in the NHS and, subsequently, in developing the SCOUT program to facilitate testing of potential therapeutic agents in a mouse model of RTT. The overall objective was to review clinical characteristics developed from the NHS and to discuss the status of specific therapies for this progressive neurodevelopmental disorder. The NHS study provided critical information on RTT: growth, anthropometrics, longevity, key comorbidities including epilepsy, breath abnormalities, gastroesophageal dysfunction, scoliosis and other orthopedic issues, puberty, behavior and anxiety, and progressive motor deterioration including the appearance of parkinsonian features. Phenotype-genotype correlations were noted including the role of X chromosome inactivation. Development of clinical severity and quality of life measures also proved critical for subsequent clinical trials. Further, development of biochemical and neurophysiologic biomarkers offered further endpoints for clinical trials. Initial clinical trials prior to the NHS were ineffective, but advances resulting from the NHS and other studies worldwide promoted significant interest from pharmaceutical firms resulting in several clinical trials. While some of these have been unrewarding such as sarizotan, others have been quite promising including the approval of trofinetide by the FDA in 2023 as the first agent available for specific treatment of RTT. Blarcamesine has been trialed in phase 3 trials, 14 agents have been studied in phase 2 trials, and 7 agents are being evaluated in preclinical/translational studies. A landmark study in 2007 by Guy et al. demonstrated that activation of a normal MECP2 gene in a null mouse model resulted in significant improvement. Gene replacement therapy has advanced through translational studies to two current phase 1/2 clinical trials (Taysha102 and Neurogene-401). Additional genetic therapies are also under study including gene editing, RNA editing, and X-chromosome reactivation. Taken together, progress in understanding and treating RTT over the past 40 years has been remarkable. This suggests that further advances can be expected.
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15. Proteau-Lemieux M, Knoth IS, Davoudi S, Martin CO, Bélanger AM, Fontaine V, Côté V, Agbogba K, Vachon K, Whitlock K, Biag HMB, Thurman AJ, Rosenfelt C, Tassone F, Frei J, Capano L, Abbeduto L, Jacquemont S, Hessl D, Hagerman RJ, Schneider A, Bolduc F, Anagnostou E, Lippe S. Specific EEG resting state biomarkers in FXS and ASD. J Neurodev Disord;2024 (Sep 9);16(1):53.
BACKGROUND: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual disability (ID) and the most common monogenetic cause of ASD. Previous literature has shown that electrophysiological activity measured by electroencephalogram (EEG) during resting state is perturbated in FXS and ASD. However, whether electrophysiological profiles of participants with FXS and ASD are similar remains unclear. The aim of this study was to compare EEG alterations found in these two clinical populations presenting varying degrees of cognitive and behavioral impairments. METHODS: Resting state EEG signal complexity, alpha peak frequency (APF) and power spectral density (PSD) were compared between 47 participants with FXS (aged between 5-20), 49 participants with ASD (aged between 6-17), and 52 neurotypical (NT) controls with a similar age distribution using MANCOVAs with age as covariate when appropriate. MANCOVAs controlling for age, when appropriate, and nonverbal intelligence quotient (NVIQ) score were subsequently performed to determine the impact of cognitive functioning on EEG alterations. RESULTS: Our results showed that FXS participants manifested decreased signal complexity and APF compared to ASD participants and NT controls, as well as altered power in the theta, alpha and low gamma frequency bands. ASD participants showed exaggerated beta power compared to FXS participants and NT controls, as well as enhanced low and high gamma power compared to NT controls. However, ASD participants did not manifest altered signal complexity or APF. Furthermore, when controlling for NVIQ, results of decreased complexity in higher scales and lower APF in FXS participants compared to NT controls and ASD participants were not replicated. CONCLUSIONS: These findings suggest that signal complexity and APF might reflect cognitive functioning, while altered power in the low gamma frequency band might be associated with neurodevelopmental conditions, particularly FXS and ASD.
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16. Root HK, Abdul-Chani MM, Arnold ZE, Cottle JJ, Hilty T, Guest KC, O’Kelley SE. Structure of Restricted Repetitive Behaviors of Individuals Referred for Autism Spectrum Disorder Assessment. J Autism Dev Disord;2024 (Sep 9)
PURPOSE: Restricted and/or repetitive displays of behavior, interests, or activities (RRBs) are one of the core symptom domains of autism spectrum disorder (ASD). Current and past research indicates two ‘clusters’ of RRBs in children with ASD: repetitive sensorimotor (e.g., hand/finger and more complex motor mannerisms) and insistence on sameness (e.g., resistance to changes in the environment) behaviors. The current study aims to fill a gap by examining how RRBs may diverge in individuals with ASD and with other neurodevelopmental disorders (ONDD) in a clinical sample. METHODS: A total of 558 individuals were seen at a tertiary care clinic for a comprehensive clinical assessment of ASD. The sample was split into ASD (n = 292 individuals) and ONDD (n = 266) groups based on clinical diagnosis. Exploratory factor analyses were conducted using Autism Diagnostic Interview-Revised (ADI-R) RRB item scores for the overall sample, the ASD group, and the ONDD group. RESULTS: Exploratory factor analysis of ADI-R RRB items indicated a 2-factor solution for the full sample and ASD group. Items loaded onto two factors comprised of « Repetitive Sensorimotor » and « Insistence on Sameness » behaviors, consistent with previous literature. Results demonstrated a unique loading pattern for the non-ASD group, with items clustering into « Higher Order » (e.g., circumscribed interests) and « Lower Order » (e.g., hand and finger mannerisms) behaviors. CONCLUSION: The results of the current study may point towards using RRBs to guide screening of children who are referred for an ASD evaluation to better identify children who are at higher risk of having ASD.
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17. Shingleton-Smith C, Koudys J, Azzano A, Feldman M. Telehealth general case parent training for children at risk for autism. J Appl Behav Anal;2024 (Sep 9)
Parent-mediated interventions for infants and young children with an increased likelihood of autism may help ameliorate developmental concerns; however, generalization of parents’ teaching strategies to novel child target skills has not been consistently demonstrated. This study expanded our parent training program, Parent Intervention for Children at-Risk for Autism (PICARA), by incorporating telehealth general case training (PICARA-TGCT) to promote generalization of teaching skills. Five parent-child dyads participated. Child target skills were chosen from the categories of imitation, receptive language, and expressive language. A concurrent multiple-baseline-across-participants design was used to evaluate the effect of training across two cohorts of parent-child dyads. Dependent variables included the percentage of correct parent teaching skills and the percentage of child correct responses. Parent teaching skills increased across all participants for both trained and untrained child target skills, as did child skills. This study provides support for PICARA-TGCT as an efficacious and efficient early intervention model.
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18. Simard V, Aubry-Guzzi MA, Chapleau I, Moënner M, François N, Champagne N. Changes in Sleep of Families After the Arrival of an Autism Service Dog. J Autism Dev Disord;2024 (Sep 9)
This study aimed to investigate the changes in sleep quality and quantity among families following the arrival of an autism service dog. We hypothesized that the sleep of the child or adolescent with autism spectrum disorder (assessed objectively with actigraphy and subjectively with a parent-reported sleep diary), and of both parents (assessed by self-reported diaries) would improve after the dog’s arrival. The sleep of 18 youths (15 boys) aged from 5 to 16 years (M = 8.86), and of their parents (14 mothers, 11 fathers) was assessed for a 5- to 7-day period before (pretest) and eight to ten weeks after the dog’s arrival (posttest). A designated parent (the same at the pretest and posttest) completed the sleep diary of the child, who wore an actiwatch in the meantime. Significant improvement in most sleep parameters was observed from pretest to posttest for the child and the mother, as reported in the sleep diaries. However, there was no improvement in the child’s sleep when assessed objectively. Fathers’ sleep duration increased after the dog’s arrival, when adjusting for the child’s age. All significant effects had medium to large sizes. This study provides the first quantitative evidence of the positive effect of autism service dogs on the sleep of families. These findings suggest that the dog’s presence may increase the sense of safety for the child, who would resume sleeping faster or stay in the bedroom after nocturnal awakenings, leading to improved parents’ sleep.
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19. Skjeldal OH, Posserud MB. Autism or Sukhareva’s syndrome?. Tidsskr Nor Laegeforen;2024 (Sep 10);144(10)
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20. Slater CN, Schroeder K, Fultz A, Kuschner ES, O’Malley L, Johnson K, Benvenuti T, Chittams J, Quinn RJ, Graham Thomas J, Pinto-Martin J, Levy SE, Kral TVE. Insights from user experience and evaluation of a mobile health nutrition intervention for children with autism: A qualitative study. J Hum Nutr Diet;2024 (Sep 9)
BACKGROUND: Children with autism spectrum disorder (ASD) experience high rates of atypical eating behaviours, such as food neophobia. Mobile health (mHealth) interventions have been found to improve communication, behaviour and social skills for children with ASD. However, there is limited evidence examining mHealth nutrition interventions among children with ASD. METHODS: The present study comprised a qualitative descriptive study that used qualitative content analysis to explore parent and child experiences with a novel mHealth nutrition intervention. Ten parent-child dyads provided user feedback and evaluation of the intervention. Data collection tools included a semistructured interview guide and a quantitative questionnaire with open-ended questions. Data analysis of the interview transcripts and open-ended questionnaire responses was an iterative process that continued until saturation was achieved. Descriptive statistics were used to analyse quantitative questionnaire data. RESULTS: Analysis of the qualitative semistructured interviews led to emergence of three themes: (1) positive intervention outcomes; (2) parent suggestions for improvement; and (3) barriers to engagement. Each theme included subthemes. Questionnaire data revealed the ability to pick rewards and the virtual character that reinforced dietary goals (« Nutrition Ninja ») were the most liked components of the application. Sending messages within the application and the Nutrition Ninja game were the least liked components of the application. CONCLUSIONS: Collectively, findings indicated that the app served as an interactive tool prompting dietary change and conversations within families. Yet, for some families, the intervention design, resistance to change or child disinterest hindered use and implementation of the intervention.
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21. Thurman AJ, Nunnally AD, Nguyen V, Berry-Kravis E, Sterling A, Edgin J, Hamilton D, Aschkenasy J, Abbeduto L. Short-term and Long-term Stability of the Autism Diagnostic Observation Schedule (ADOS-2) Calibrated Comparison Scores (CCS) and Classification Scores in Youth with Down Syndrome or Fragile X Syndrome with Intellectual Disability. J Autism Dev Disord;2024 (Sep 9)
Autism diagnosis in individuals with fragile X syndrome (FXS) or Down syndrome (DS) with co-occurring intellectual disability is complex since clinicians often must consider other co-occurring behavioral features. Understanding how best to assess the features of autism in individuals with these conditions is crucial. In this study, we consider the short-term and long-term psychometric consistency of the Autism Diagnostic Observation Schedule-2 (ADOS-2) calibrated comparison scores (CCSs) and ASD classifications in individuals with FXS or DS. 76 individuals with DS (39 males; M(age) = 15.27) and 90 individuals with FXS (71 males; M(age) = 14.52 years) completed an assessment battery (ADOS-2, abbreviated IQ assessment and semi-structured language sample) at three timepoints (initial visit, short-term stability visit, long-term stability visit). All CCSs were found to have short-and long-term consistency for both groups, with lowest reliability scores for the repetitive behaviors (RRB) CCSs. Decreased reliability of RRB CCSs was found in the DS group than the FXS group. Variable short- and long-term ASD classifications were observed in both groups, with significantly higher variability in the DS group. Across groups, participants with variable classifications had lower ADOS-2 CCSs and higher language scores than those with stable ASD classifications. In the FXS group, those with variable classifications earned higher cognitive scores than did participants with stable ASD classifications. These findings highlight the high incidence of autism symptomatology in individuals with DS or FXS and co-occurring intellectual disability, while elucidating the short- and long-term variability of symptom expression in the context of structured observational tasks such as the ADOS-2.