Pubmed du 14/02/25
1. Parents’ and guardians’ experiences of barriers and facilitators in accessing autism spectrum disorder diagnostic services for their children. Nurs Health Sci. 2025; 27(1): e70037.
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2. Beaulieu A, Hagbarth I, Benarous X. [Identifying infants at risk of NDT by assessing general movements]. Soins Pediatr Pueric. 2025; 46(342): 33-7.
Recent work has focused on the value of assessing general movements (GM) in the early identification of the risk of autism spectrum disorder in infants. As illustrated by a clinical case and a review of the literature, atypicalities in GM – such as poor movements or reduced complexity and variability – reflect a bodily fragility that can complicate the baby’s relational engagement. Very early intervention on these difficulties has shown a benefit in terms of the quality of interactions.
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3. Eltokhi A, Gamal El-Din TM. Two pores instead of one: Gating pore current and the electrical leak in autism and epilepsy. Prog Neuropsychopharmacol Biol Psychiatry. 2025: 111291.
Imagine the brain as a dynamic city, where countless vehicles traverse major arterial roads and branching side streets. The smooth traffic flow depends on a balance between excitatory neurons, which act as main roads encouraging vehicles to move forward, and inhibitory neurons, represented by branching side streets that regulate and control the traffic flow back onto the main route. Both systems work in tandem to maintain efficient operations, preventing gridlock or chaos. Zooming in further, the voltage-gated ion channels within neurons resemble traffic lights on arterial roads or side streets. Green means go, red means stop, and yellow signals caution. These channels regulate the flow of bioelectric signals, coordinating transitions between green, yellow, and red-analogous to an action potential. In excitatory neurons (major roads), voltage-gated sodium channels act as green lights, allowing sodium ions to flow in during depolarization. In contrast, voltage-gated potassium channels serve as yellow lights, eventually signaling red to terminate the action potential. In inhibitory neurons (side streets), sodium influx produces action potentials that ultimately control and limit traffic on the major roads. This analogy can be extended to describe neuropsychiatric and neurological disorders, such as autism spectrum disorder (ASD) and epilepsy, which arise from mutations in voltage-gated ion channels. These mutations alter the channels’ ability to open and close properly, disrupting the timing and duration of red, yellow and green signals and impairing traffic flow. Now, picture yourself on a major arterial road with green and red flickering simultaneously. Such a disastrous scenario could lead to even more dangerous outcomes, with cars moving when they should stop or stopping when they should move. This specific analogy illustrates a key feature of certain mutations in voltage-gated ion channels that result in the gating pore current (I(gp)), a secondary pore that leaks electrical current. This mini-review focuses on I(gp) caused by mutations in the gating charge residues of voltage-gated ion channels. We will discuss how I(gp) contributes to the pathophysiology of ASD and epilepsy and explore therapeutic strategies targeting this mechanism.
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4. Esqueda Villegas F, van der Steen S, van Dijk M, Esqueda Villegas DA, Minnaert A. Teacher-Student Interactions of Autistic Adolescents: Relationships between Teacher Autonomy Support, Structure, Involvement and Student Engagement. J Autism Dev Disord. 2025.
The extent to which autistic students are provided with autonomy-support, structure and involvement during the teacher-student interaction has been under-researched. Few studies have focused on autistic secondary school students and even fewer have used observations to analyze their interactions. In this research, we aimed to understand the interaction dynamics between autistic students and their teachers in the Netherlands and Mexico; two countries committed to inclusive education. Six teacher-student dyads from five mainstream secondary schools in the Netherlands and seven teacher-student dyads from one school in Mexico participated. We used a fine-grained observational method to describe the classroom interactions, systematically coded from the lens of Self-Determination Theory. To study the interaction as a whole and co-occurring teacher and student behaviors (rather than breaking it down into separate parts), we used State Space Grids. Teacher-student interactions varied widely. In general, Dutch and Mexican teachers provided much structure in the classroom, which (in many cases) coincided with the active engagement of autistic students. At the same time, autistic students in both countries received little autonomy-support. However, when these students received autonomy-support, they responded with more engagement. In contrast, both engaged and disengaged student behaviors occurred when the teacher showed involvement. The desired patterns of interaction were not observed in all teacher-student pairs. Our findings indicate that teachers in both countries are missing opportunities to be autonomy-supportive. This contextual factor was minimally observed in the teacher-student interactions, particularly when compared to the levels of structure and involvement provided during lessons.
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5. Fert M, Naudin N, Stroeymeyt E. [Care beyond the walls]. Soins Pediatr Pueric. 2025; 46(342): 17-21.
Support for people with an autism spectrum disorder must enable them to increase the number of positive experiences in their lives and in society as a whole. As well as providing care, social centers are also places where children and their carers can find respite. This is the experience of the Atypiks café and its equitherapy workshop.
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6. Kalb LG, Perrin J, Sollins E, Horton J, Cross EA, Vasa RA. A Pilot Randomized Trial of a Brief Mental Health Crisis Prevention Program for Autistic Youth. J Autism Dev Disord. 2025.
Autistic youth are at significant risk of experiencing a mental health crisis. Unfortunately, most clinical approaches to crisis management, such as referral to the emergency department, can be traumatic. At present, no crisis prevention programs have been developed for or rigorously tested among autistic youth. The goals of this study were to develop a parent-mediated mental health crisis prevention program, delivered virtually by a licensed clinician over three 1-h sessions, and test its efficacy via a randomized controlled trial. The trial included 49 autistic youth, ages 3 to 12 years, and their parents, who were recruited from an outpatient autism center. All children had behavioral concerns but were not at acute risk of crisis. Parents in the crisis prevention program (n = 25) reported that the strategies were safe and feasible; they were also very satisfied with the program. Compared to active controls (n = 24), who received the Autism Speaks Challenging Behavior Toolkit, the crisis prevention program was found to have greater improvements in caregiver-reported knowledge, confidence, and preparedness regarding management of crisis behaviors (p < .05). However, effects on caregiver-reported child irritability and behavioral acuity did not differ (p > .05). The brief crisis prevention program is safe, feasible, and acceptable to parents. While it improves mental health crisis preparedness, further research on its efficacy in reducing crisis risk is needed.
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7. Keselman D, Glanzman A, Thelen MY, Prosser LA, McGuire J, Matesanz SE. Motor function testing rates and outcomes in Duchenne muscular dystrophy with comorbid autism and attention-deficit/hyperactivity disorder. Neuromuscul Disord. 2025; 48: 105281.
Patients with Duchenne muscular dystrophy have a higher incidence of neurodevelopmental disorders, particularly autism spectrum and attention-deficit/hyperactivity disorders, than the general population. However, the clinical outcome assessments used in the evaluation of patients with Duchenne and as endpoints in clinical trials require significant patient cooperation, which can be challenging in those with severe behavioral issues and leads to their exclusion. With ongoing expansion of the therapeutic arsenal, we aimed to explore differences in motor function test completion and measurements between Duchenne patients with and without autism spectrum disorder or attention-deficit/hyperactivity disorder in a large tertiary care hospital’s pediatric neuromuscular clinic. We identified significantly lower rates of motor function testing and motor function test scores among Duchenne patients with autism or attention-deficit/hyperactivity disorder. These findings underscore the need for adequate opportunity to complete motor function testing in those patients. Alternatively, the Duchenne community could consider validating more patient-reported outcomes and wearable device outcome measures in trials that families of children with neurodevelopmental disorders could more easily use. These interventions would improve equitable access to new therapies for patients with severe behavioral issues and allow researchers to track broader clinical outcomes among all patients as the Duchenne treatment landscape expands.
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8. Kwong TC, Yuan HL, Mung SWY, Chu HK, Lai YYC, Chan CCH, Choy YS. Intervention technology of aural perception controllable headset for children with autism spectrum disorder. Sci Rep. 2025; 15(1): 5356.
This study explored aural perception in children with autism using an aural perception test and electrophysiological responses to sound stimuli. The results demonstrated unique responses to sound stimuli at different sound intensity levels, emphasising the need for customised noise-control strategies targeting specific troublesome frequencies. To address this issue, headset intervention technology with a hybrid active noise control system integrated with an aural perception controlling function was developed for children with autism with distinct auditory perception based on their psychoacoustic characteristics. The results showed that the noise-control strategy was effective in mitigating unpleasant feelings and reducing the loudness and sharpness of daily stimuli. The proposed aural perception controllable headset can minimise noise, leading to a noticeable reduction in the magnitude of the auditory evoked potential at the midline central brain region for children with autism exposed to certain sounds, such as heavy vehicles and thunder, providing a more pleasant aural perception. A diminished auditory evoked potential response was associated with lower annoyance and pleasant aural perception. This study suggests that the proposed aural-perception-based noise-control method has the potential to alleviate behaviours related to auditory hyperreactivity in children with autism.
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9. Ormieres C, Lesieur-Sebellin M, Siquier-Pernet K, Delplancq G, Rio M, Parisot M, Nitschké P, Rodriguez-Fontenla C, Bodineau A, Narcy L, Schlumberger E, Cantagrel V, Malan V. Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech. Mol Autism. 2025; 16(1): 10.
BACKGROUND: Developmental language disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability (ID). The clinical heterogeneity of language disorders, the frequent presence of comorbidities, and the inconsistent terminology used over the years have impeded both research and clinical practice. Identifying sub-groups of children (i.e. DLD cases without childhood apraxia of speech (CAS)) with language difficulties is essential for elucidating the underlying genetic causes of this condition. DLD presents along a spectrum of severity, ranging from mild speech delays to profound disturbances in oral language structure in otherwise typically intelligent children. The prevalence of DLD is ~ 7-8% or 2% if severe forms are considered. This study aims to investigate a homogeneous cohort of DLD patients, excluding cases of ASD, ID or CAS, using multiple genomic approaches to better define the molecular basis of the disorder. METHODS: Fifteen families, including 27 children with severe DLD, were enrolled. The majority of cases (n = 24) were included in multiplex families while three cases were sporadic. This resulted in a cohort of 59 individuals for whom chromosomal microarray analysis and exome or genome sequencing were performed. RESULTS: We identified copy number variants (CNVs) predisposing to neurodevelopmental disorders with incomplete penetrance and variable expressivity in two families. These CNVs (i.e., 15q13.3 deletion and proximal 16p11.2 duplication) are interpreted as pathogenic. In one sporadic case, a de novo pathogenic variant in the ZNF292 gene, known to be associated with ID, was detected, broadening the spectrum of this syndrome. LIMITATIONS: The strict diagnostic criteria applied by our multidisciplinary team, including speech-language physicians, neuropsychologists, and paediatric neurologists, resulted in a relatively small sample size, which limit the strength of our findings. CONCLUSION: These findings highlight a common genetic architecture between DLD, ASD and ID, and underline the need for further investigation into overlapping neurodevelopmental pathways. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT06660108.
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10. Roestorf A, Bowler DM, Gaigg SB, Howlin P. Prospective memory and quality of life in older and younger autistic adults. Cortex. 2025; 185: 31-49.
Ageing in late adulthood is generally accompanied by diminished prospective memory (PM), which itself is associated with declining quality of life (QoL). Given that autistic individuals are often reported as having PM difficulties and diminished QoL, we aimed to establish whether these measures are also associated in these individuals as they grow older. We administered questionnaire measures of prospective and retrospective memory (PM and RM) and of overall and health-related quality of life (QoL) and experimental measures of time-based and event-based PM (TBPM and EBPM) to 35 autistic and 22 non-autistic adults aged from 23 to 80 years. The autistic participants reported higher levels of PM and RM difficulties than non-autistic participants but that these reports did not correlate with age nor with the experimental TBPM or EBPM measures in either group. Age correlated negatively with two of the experimental measures of TBPM for the non-autistic participants, replicating earlier studies. Autistic participants showed diminished performance on the TBPM but not the EBPM measures, replicating the majority of earlier PM studies in autism. Autistic participants also reported lower overall and health-related QoL, but there were no age-related differences for either measure in either diagnostic group. Self-reported PM and RM correlated significantly with health-related QoL in both the autistic and non-autistic participants. Overall QoL was positively associated with TBPM accuracy in the non-autistic participants. In addition to confirming earlier findings showing that autistic individuals have greater difficulties with TBPM compared to EBPM, our findings suggest that neither EBPM nor TBPM difficulties appear to adversely affect their overall or health-related QoL. The patterning of the autistic participants’ results also suggests that the mechanisms underlying their performance on the tasks used in this study may differ from those of the non-autistic participants, pointing to the need for careful task analysis when designing future investigations.
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11. Saban-Bezalel R, Stolar O, Ben-Itzchak E. Brief Report: Eating Habits and Social Setting: Comparing Children with Autism and Typically Developing Children. J Autism Dev Disord. 2025.
PURPOSE: Eating problems are commonly reported as co-occurring conditions in individuals with autism spectrum disorder (ASD) and are also prevalent among typically developing (TD) children. While it has been shown that eating problems in TD children are influenced by social settings, this factor has not been extensively studied in children with ASD. METHOD: This study compared the perspectives of parents and preschool teachers on the eating habits of both ASD and TD children. The study included children aged 29-81 months, 34 TD children, and 31 children diagnosed with ASD who attended special education preschool classes specifically designed for them. RESULTS: The findings revealed that parental and preschool teacher reports were generally consistent, but parents tended to report more severe eating problems for both groups of children. Thus, pointing to the impact of social settings on eating in ASD. Additionally, the reports indicated that eating problems were more severe in children with ASD compared to TD children. CONCLUSION: These findings underscore the significant influence of social settings on children’s eating behavior. It is essential for education and treatment teams to recognize that eating habits may vary between home and preschool environments. They should be attentive to parents’ concerns regarding their children’s eating habits at home and provide appropriate support and guidance.
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12. Serrano Fernández L, Henao Campo D, Vela Llauradó E, Martín Martínez L. Parenting a child with Autism Spectrum Disorder: A comprehensive analysis of family needs. Acta Psychol (Amst). 2025; 254: 104786.
This study explores the perceived needs of families with school-aged members diagnosed with Autism Spectrum Disorder (ASD) in the Community of Madrid, Spain. Using a non-experimental, mixed-method design, the research assessed key needs across various dimensions, including information, family and social support, financial assistance, caregiving for the member with ASD, professional support, and community services. The results indicate that families experience significantly elevated needs, with information and educational support emerging as the most critical. However, no statistically significant correlations were found between the level of dependency or the age of the member with ASD and the overall family needs index. Additional qualitative analysis revealed that families prioritize access to adequate educational and professional resources, along with emotional and social support. These findings highlight the urgent need to develop inclusive policies and comprehensive support strategies to alleviate the burdens faced by families caring for individuals with ASD.
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13. Westwood H, Mandy W, Brewer R. The Relationship Between Interoception, Alexithymia, Autistic Traits and Eating Pathology in Autistic Adults. J Autism Dev Disord. 2025.
This study investigated the mechanisms underlying disordered eating of autistic adults, by investigating associations between eating disorder (ED) symptoms and autistic traits; autism-specific atypical eating; alexithymia; interoception; and body image in autistic and non-autistic participants. Autistic adults (n = 196) and non-autistic adults (n = 206) completed online self-report measures assessing ED pathology, atypical eating, body image dissatisfaction, interoception, alexithymia, and autistic traits. Structural Equation Modelling tested a theoretical model of the relationships between these variables, and whether these relationships were moderated by autism diagnosis. Autistic adults self-reported higher ED pathology than non-autistic adults. The proposed model and the strength of the relationship between body image and ED pathology did not differ between the autistic and non-autistic groups. Atypical eating (not related to over-evaluation of weight/shape), however, was only associated with ED pathology in the autistic group. Both traditional and additional factors, including eating disturbances not driven by weight/shape concern, appear to contribute to ED pathology in autism.