Pubmed (TSA) du 24/02/26
1. Arduç Akçay A, Türkmen Noyan G, Çalışkan İ, Konakçı B, Copur S, Mutluer T. Sociodemographic Profiles and Age-Related Differences in Comorbidities, Sleep, and Quality of Life of Turkish Children with Rett Syndrome and Their Families. Neuropediatrics;2026 (Feb 23)
OBJECTIVE: This study aimed to examine sociodemographic characteristics, comorbid medical conditions, sleep problems, and their impact on quality of life in Turkish children with Rett Syndrome (RTT) and their caregivers. A secondary aim was to explore how these features vary by age group: early (0-5), middle (6-11), and late childhood (12-18 years). METHODS: In this cross-sectional study, 77 children with RTT and their caregivers completed standardized online questionnaires. Quality of life and sleep were assessed using the PedsQL and CSHQ. Participants were grouped by age to examine developmental differences. RESULTS: Only 37.8% of the children had developed speech, and most later lost this ability. Independent walking was reported in 43.2%. Epilepsy (71.6%) and gastrointestinal symptoms (56.8%) were common. Sleep problems were identified in 48.6% of children, with parasomnia symptoms significantly more common in the 0-5 age group (p=0.039). Emotional functioning was lower in younger children (p=0.022). Poor sleep quality was associated with worse family relations (p=0.032). CONCLUSIONS: Younger children with RTT experience more emotional and sleep problems. Sleep quality is closely tied to family well-being, suggesting that interventions should address sleep in both children and caregivers.
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2. Colt M, Gordon A, Peng YJ, Wu Y, Martin K, Chang KT. Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome. Proc Natl Acad Sci U S A;2026 (Feb 24);123(8):e2517506123.
Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability and autism. One common physical feature of FXS is macrocephaly, a condition typically associated with brain overgrowth and dysfunction; however, the mechanisms underlying its occurrence are unclear. Here, we uncover a role for the fragile X messenger ribonucleoprotein (FMRP) in regulating tissue growth through the Minibrain (Mnb) kinase, also known as DYRK1A, a gene up-regulated in Down syndrome and mutated in a specific form of autism. Using fly models of FXS, we find that Drosophila FMRP (dFmrp) suppresses the translation of Mnb. Loss of dFmrp leads to the up-regulation of Mnb in the developing brain, resulting in macrocephaly and brain enlargement. We find that brain overgrowth begins early in development and can be suppressed with DYRK1A inhibitors. At the cellular level, the Mnb/DYRK1A signaling pathway drives brain enlargement by inducing both neuronal hypertrophy and excessive proliferation of neural progenitors. We further demonstrate that Mnb up-regulates protein synthesis, and reducing Mnb activity or disrupting essential translational machinery restores brain size and improves locomotor coordination in the Drosophila FXS model. These data suggest that dysregulation of the Mnb/DYRK1A signaling pathway contributes to brain overgrowth and aberrant protein synthesis in FXS. More broadly, our findings highlight that neurodevelopmental disorders such as FXS, Down syndrome, and autism share disruptions in common molecular pathways.
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3. Harada Y, Kamei N, Tsukiyama C, Shiozaki K, Ohyama J, Wada M. Moderating effect of autistic traits on the relationship between peripheral visual processing and facial emotion recognition. Atten Percept Psychophys;2026 (Feb 23);88(3)
Distinct visual processing patterns are one of the underlying mechanisms of atypical facial emotion recognition in individuals with autism spectrum disorder. However, the role of peripheral visual processing, particularly the functional field of view (FFOV), remains unclear. Therefore, this study aimed to examine the relationships among autistic traits, FFOV size, and facial emotion recognition ability. Seventy-five students completed the Autism-Spectrum Quotient (AQ) and then performed facial emotion recognition and FFOV tasks. In the emotion recognition task, participants viewed one of five facial expressions (anger, disgust, fear, happiness, or sadness) on a monitor and selected the word that best described the expression. The FFOV task followed a similar procedure, except that the target digit was presented in the peripheral vision immediately after the facial images disappeared. FFOV size was estimated by fitting psychometric functions to the identification performance of the digits as a function of the target eccentricity. The major findings were: (a) AQ scores did not predict FFOV size, (b) FFOV size was positively correlated with the accuracy of facial emotion recognition, and (c) this correlation became non-significant with lower AQ scores. The findings suggest that peripheral visual processing is associated with facial emotion recognition ability, and that this association varies as a function of autistic traits.
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4. Lin L, Li Q, Yue Z, Dai Y, Chen H, Chen Y, Zhu J, Han Y, Yin S, Guan L, Ke X. Beyond Gaze: Affective Synchrony and Sensory-Linked Interactional Profiles as Early Markers of Autism Risk. Autism Res;2026 (Feb 23):e70209.
Identifying early markers for autism spectrum disorder (ASD) is a clinical priority. This study investigated interpersonal affect synchrony (IAS) as a measure of interactional quality in a longitudinal cohort of 90 high-risk infants. We aimed to disentangle its contribution from mutual gaze and identify data-driven social interaction profiles linked to sensory traits. Parent-infant interactions were recorded at 6-18 months; IAS was quantified using Cross-Recurrence Quantification Analysis, and ASD outcomes were determined at 18-24 months. Infants later diagnosed with ASD (n = 25) showed significantly lower IAS (F(1,84) = 5.89, p FDR = 0.023) and synchrony stability (F(1,84) = 5.37, p FDR = 0.023) than non-diagnosed infants (n = 65), yet the groups did not differ in mutual gaze (p = 0.200). Logistic regression analysis further showed that IAS (OR = 0.561, p FDR = 0.038) and synchrony stability (OR = 0.013, p FDR = 0.038) both significantly predict clinical outcome. K-means clustering revealed three profiles: « High Gaze-High Synchrony, » « Mid Gaze-Low Synchrony, » and « Low Gaze-High Synchrony. » The « Mid Gaze-Low Synchrony » profile was significantly associated with a later ASD diagnosis (p adj = 0.031), while the « Low Gaze-High Synchrony » profile was linked to higher sensation-seeking traits (p adj = 0.028). The quality of parent-infant affective connection is a more robust early marker for ASD than the quantity of mutual gaze. These findings reveal critical heterogeneity, identifying a high-risk « gaze without engagement » pattern and a potential adaptive pathway to synchrony, underscoring the need for individualized strategies in early screening and intervention. Emotional synchrony—how well a parent and infant share positive feelings—is already atypical in infants who later develop autism, and this difference occurs regardless of how much time they spend looking at each other. Infants’ unique sensory traits shape how they interact, with some looking away more but still forming strong emotional connections. These findings highlight the importance of supporting diverse, individualized ways for parents and infants to connect. eng
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5. Peters VJT, Caspers E, Meijboom BR, Hoofwijk S, Verbeek INE, Gelder CMD, Bok LA. Relocating pediatric, hospital-based care towards preventive care: a qualitative study on modular care provision for children with developmental disabilities. Eur J Pediatr;2026 (Feb 23);185(3)
The aim of this study is to identify tasks and requirements for relocating healthcare for children with developmental disabilities in the Netherlands using a modular perspective. We conducted semi-structured interviews with three pediatricians and four youth public health physicians providing care for children with developmental disabilities in a southeastern region of the Netherlands. Additionally, we conducted ten practice observations. The data were analyzed using thematic analysis. We were able to visualize healthcare provision for children with developmental disabilities. This enabled us to identify modules-collections of tasks-which revealed opportunities and requirements to relocate certain care tasks from pediatricians to youth public health physicians. CONCLUSION: This study identified relocation opportunities for healthcare provision for children with developmental disabilities from pediatric care towards preventive care revealing duplication in care delivery. Also, this study identified five organizational requirements for relocation of care: adequate information and communications technology systems, clear agreements between parties involved, financial arrangements, knowledge and skills, and a shared desire. Relocation offers several potential benefits such as reducing workload and costs and improving care coherence and patient and family satisfaction. WHAT IS KNOWN: • Relocating care-shifting tasks from pediatric care to primary or preventive care- is increasingly used to reduce costs, with evidence showing that such shifts can maintain care quality while lowering risks and expenses. WHAT IS NEW: • We identify the organizational requirements for relocation of healthcare for children with developmental disabilities by revealing which tasks can be relocated and to whom.
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6. Sorice V, Egbury J. Family-centred, culturally sensitive care is needed as parents navigate uncertain feeding, conflicting beliefs and inadequate support for children with developmental disabilities. Evid Based Nurs;2026 (Feb 23)
