Pubmed du 03/08/25
1. Bae HG, Wu WC, Nip K, Gould E, Kim JH. Scn2a-linked myelination deficits and synaptic plasticity alterations drive auditory processing disorders in an ASD mouse model. Nat Commun. 2025; 16(1): 7109.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by complex sensory processing deficits, which continue to elude comprehensive mechanistic understanding. A key unresolved question is how alterations in neural connectivity and communication translate into the behavioral manifestations seen in ASD. Here, we investigate how oligodendrocyte dysfunction alters myelin plasticity and neuronal activity, leading to auditory processing disorder associated with ASD. We focus on the SCN2A gene, an ASD-risk factor, to understand its role in myelination and neural processing within the auditory nervous system. Transcriptional profiling suggests alterations in the expression of myelin-associated genes in Scn2a conditional knockout mice, highlighting the cellular consequences engendered by Scn2a deletion in oligodendrocytes. The results reveal a nuanced interplay between oligodendrocytes and axons, where Scn2a deletion causes alterations in the intricate process of myelination. This disruption instigates changes in axonal properties, presynaptic excitability, and synaptic plasticity at the single cell level. Furthermore, oligodendrocyte-specific Scn2a deletion compromises the integrity of neural circuitry within auditory pathways, leading to auditory hypersensitivity. Our findings reveal a pathway linking myelin deficits to synaptic activity and sensory abnormalities in ASD.
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2. Lee IO, Fritsch DM, Kerz M, Sowden JC, Constable PA, Skuse DH, Thompson DA. Global motion coherent deficits in individuals with autism spectrum disorder and their family members are associated with retinal function. Sci Rep. 2025; 15(1): 28249.
This study aims to evaluate if the reduced sensitivity to global motion observed in some individuals with autism spectrum disorder (ASD) is associated with altered retinal processing. Motion coherence thresholds were measured from individuals with ASD and their family members and compared to the test reference limits derived from control participants. The light adapted electroretinogram (ERG) a- and b-wave amplitudes and peak-times, and photopic negative response (PhNR) parameters were measured from the ASD individuals and their families and compared to those of controls. Abnormally high motion coherence thresholds were found in ASD probands and their family members compared to that in controls, particularly mothers. Altered retinal functions were found in ASD probands and their parents. The PhNR, a- and b-wave time-to-peak were significantly correlated with motion coherence thresholds. The altered retinal function was associated with the age, intelligence and autism severity of the ASD family members. There were associations between the motion coherence and ERG parameters, including smaller amplitudes of the PhNR, and longer time-to-peak of the a- and b-waves and time to the PhNR, compared to those with abnormal motion coherence thresholds. The results showed that global motion coherence deficits were associated with altered retinal function in ASD and their family members. The findings suggest that motion perception deficits follow a familial pattern and that affected mothers may have an increased risk of a child with ASD.
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3. Şahin Büyük D, Özmen D. Effectiveness of a Parent Empowerment Program for Parents of Children with Autism: A Randomized Controlled Trial. Child Care Health Dev. 2025; 51(5): e70148.
BACKGROUND: Parents of children with autism often face significant stress, low self-efficacy, and caregiver burden in meeting their children’s complex needs. This study evaluated the effectiveness of a parent empowerment program combining parental training and motivational interviewing to support caregivers of children with autism in Türkiye. METHODS: A total of 69 parents (intervention = 34, control = 35) participated in this unblinded, two-group randomized controlled study, which was conducted between September 2020 and May 2022. A parent empowerment program, including four parental training sessions and two motivational interview sessions, was applied to the parents in the intervention group. The Parental Self-Efficacy Scale, Zarit Care Burden Scale, Perceived Stress Scale and Family Empowerment Scale were used to evaluate the effectiveness of the empowerment program. Standard practice was performed for the control group. RESULTS: Parents in the intervention group showed significantly greater improvements than those in the control group in self-efficacy (t = 5.340, p < 0.001), perceived stress (t = -4.636, p < 0.001) and family empowerment (t = 2.745, p = 0.008). No significant difference was observed between the groups in caregiver burden (p = 0.086). CONCLUSION: This study reveals that using a parent empowerment program that includes motivational interviews along with training interventions is effective in empowering parents to manage their children's care, reducing stress, and supporting them to acquire effective parenting skills by increasing self-efficacy. Future research should explore designs that assess the independent and combined effects of motivational interviews and parent training programmes in randomised controlled trials. The study was registered at ClinicalTrials.gov (https://clinicaltrials.gov/) under the registration number NCT06629974 on October 8, 2024.
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4. Saleem S, Sarmad S, Jawad M, Liaqat S, Ahad M, Rauf W. Physical therapy rehabilitation of Cohen syndrome in Pakistan. J Pak Med Assoc. 2025; 75(7): 1122-4.
Cohen Syndrome is a rare genetic disorder. It is caused by the mutation of VPS13b gene which is present on chromosome number 8. It was first described in 1973. Here is a case report of a male child who presented to Paediatric Physical Therapy and Neuro Rehabilitation Department of The University of Lahore Teaching Hospital, Lahore, on July 25, 2021, with developmental delay due to hypotonia, typical facial gestalt, neutropenia, intellectual disability and speech delay. His genetic testing confirmed the diagnosis of Cohen syndrome. He received an intensive and holistic physical therapy programme for 3 years (July 2021 till July 2024) which helped him reach his developmental milestones. This study shows that with efficient goal setting, early intervention along with enriched environment and family centred approach can help the child achieve age-appropriate milestones.
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5. Szabó J, Filo J, Démuthová R, Renczés E, Borbélyová V, Ostatníková D, Celec P. Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes. J Neurodev Disord. 2025; 17(1): 45.
BACKGROUND: High heritability (80-90%) of the autism spectrum disorder (ASD) and sex-biased incidence (3-4 times more boys than girls) suggest the roles of genetic predisposition and sex in the etiopathogenesis of the disorder. As ASD is commonly diagnosed in early childhood, most of the research is focused on children, yet animal research predominantly uses adult-aged animals. The effect of aging on the core and secondary ASD symptomatology is understudied, both in patients and animal models of ASD. METHODS: To investigate the effect of aging on sociability, repetitive behavior, exploration, locomotor activity, anxiety-like behavior, and object-avoidance behavior, behavioral phenotyping was conducted in Shank3B(-/-) (n = 67) and C57BL/6J wild-type (WT, n = 68) mice of both sexes (female n = 70, male n = 65) in adolescence (1-2 months of age, n = 42), adulthood (3-6 months of age, n = 40), and old age (12-18 months of age, n = 53). RESULTS: Social deficits were observed only in old Shank3B(-/-) males. Anxiety-like behavior peaked in adulthood with Shank3B(-/-) mice roughly 20% more anxious than controls. Repetitive grooming and object-induced avoidance behavior were twice more prevalent in Shank3B(-/-) mice consistently across the lifespan. Hypoactivity (20% less distance moved) and reduced exploration (30% less rearing behavior) were recorded in Shank3B(-/-) mice and were more prevalent in female animals (30% less rearing behavior). Data were analyzed using the Three-way ANOVA (genotype, sex, age), followed by a posthoc Bonferroni correction to compare respective subgroups. CONCLUSIONS: Present study shows that aging affects ASD-like phenotype in the Shank3B-mutant mouse model, even though the effect size seems to be small. The mechanisms underlying these partially sex-specific effects should be the subject of further research with potential translational implications.
