1. Arutiunian V, Santhosh M, Neuhaus E, Borland H, Tompkins C, Bernier RA, Bookheimer SY, Dapretto M, Gupta AR, Jack A, Jeste S, McPartland JC, Naples A, Van Horn JD, Pelphrey KA, Webb SJ. The relationship between gamma-band neural oscillations and language skills in youth with Autism Spectrum Disorder and their first-degree relatives. Mol Autism. 2024; 15(1): 19.

BACKGROUND: Most children with Autism Spectrum Disorder (ASD) have co-occurring language impairments and some of these autism-specific language difficulties are also present in their non-autistic first-degree relatives. One of the possible neural mechanisms associated with variability in language functioning is alterations in cortical gamma-band oscillations, hypothesized to be related to neural excitation and inhibition balance. METHODS: We used a high-density 128-channel electroencephalography (EEG) to register brain response to speech stimuli in a large sex-balanced sample of participants: 125 youth with ASD, 121 typically developing (TD) youth, and 40 unaffected siblings (US) of youth with ASD. Language skills were assessed with Clinical Evaluation of Language Fundamentals. RESULTS: First, during speech processing, we identified significantly elevated gamma power in ASD participants compared to TD controls. Second, across all youth, higher gamma power was associated with lower language skills. Finally, the US group demonstrated an intermediate profile in both language and gamma power, with nonverbal IQ mediating the relationship between gamma power and language skills. LIMITATIONS: We only focused on one of the possible neural contributors to variability in language functioning. Also, the US group consisted of a smaller number of participants in comparison to the ASD or TD groups. Finally, due to the timing issue in EEG system we have provided only non-phase-locked analysis. CONCLUSIONS: Autistic youth showed elevated gamma power, suggesting higher excitation in the brain in response to speech stimuli and elevated gamma power was related to lower language skills. The US group showed an intermediate pattern of gamma activity, suggesting that the broader autism phenotype extends to neural profiles.

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2. Meng J, Zhang L, Zhang YW. Microglial Dysfunction in Autism Spectrum Disorder. Neuroscientist. 2024: 10738584241252576.

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with onset in childhood. The molecular mechanisms underlying ASD have not yet been elucidated completely. Evidence has emerged to support a link between microglial dysfunction and the etiology of ASD. This review summarizes current research on microglial dysfunction in neuroinflammation and synaptic pruning, which are associated with altered transcriptomes and autophagy in ASD. Dysbiosis of gut microbiota in ASD and its correlation with microglial dysfunction are also addressed.

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3. Mishra A. A Randomized Controlled Trial Comparing Face-to-Face Versus Remote Delivery of Low-Tech Augmentative and Alternative Communication in Nonspeaking Children With Autism Spectrum Disorder. J Speech Lang Hear Res. 2024; 67(5): 1478-89.

PURPOSE: Thirty percent of children diagnosed with autism spectrum disorder (ASD) do not develop spoken language. To provide a means of communication for this subset of the population, augmentative and alternative communication (AAC) systems are often utilized. Low-tech options have traditionally been delivered through the in-person modality. However, due to the COVID-19 pandemic, changes to service delivery models have been required. This randomized controlled trial was conducted in order to assess the efficacy of low-tech AAC delivered face-to-face versus remotely on communication outcomes in nonspeaking children with ASD. CONCLUSIONS: Both participant groups demonstrated similar gains in AAC proficiency, number and type of nonspeaking acts, and number of spoken communication acts. Remote delivery of low-tech AAC treatment is a viable alternative to face-to-face instruction.

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4. Opoku MP, Mohamed A, Safi M, Belbase S, Al Mughairbi F, Xie Q, Al Shatheli M. Mothers’ evaluations of fathers’ contributions to raising children with autism spectrum disorder in the United Arab Emirates. BMC Psychol. 2024; 12(1): 253.

BACKGROUND: Autism spectrum disorder (ASD) is a lifelong neurological condition which results in social skill deficits, communication difficulties, and restrictive and repetitive behaviour. The difficulties associated with parenting children with ASD have been studied extensively, mainly from the perspectives of mothers. The extent of involvement of fathers in the raising of children with ASD has received limited scholarly attention, especially in non-Western contexts such as the United Arab Emirates. OBJECTIVES: This study asked mothers to evaluate the involvement of fathers in the development of children with ASD. METHODS: In all, 240 mothers completed the Fathers’ Involvement in Development and Rehabilitation Scale, designed based on a review of literature on the construct of involvement, namely attitude, participation in training, and support domains. The data were subjected to computation of mean scores, multivariate analysis of variance, hierarchical regression, and moderation analyses. RESULTS: The results suggested that fathers held positive attitudes and provided substantial support to their children with ASD. However, mothers were ambivalent regarding the participation of fathers in training to support the development of their children. Differences were also observed between participants according to marital status, location, child gender, and ASD severity. CONCLUSION: Recommendations for targeted training for fathers and other study implications are discussed.

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5. Rani R, Sri NS, Medishetti R, Chatti K, Sevilimedu A. Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome. Hum Mol Genet. 2024.

Fragile X syndrome (FXS) is an inherited neurodevelopmental disorder and the leading genetic cause of autism spectrum disorders. FXS is caused by loss of function mutations in Fragile X mental retardation protein (FMRP), an RNA binding protein that is known to regulate translation of its target mRNAs, predominantly in the brain and gonads. The molecular mechanisms connecting FMRP function to neurodevelopmental phenotypes are well understood. However, neither the full extent of reproductive phenotypes, nor the underlying molecular mechanisms have been as yet determined. Here, we developed new fmr1 knockout zebrafish lines and show that they mimic key aspects of FXS neuronal phenotypes across both larval and adult stages. Results from the fmr1 knockout females also showed that altered gene expression in the brain, via the neuroendocrine pathway contribute to distinct abnormal phenotypes during ovarian development and oocyte maturation. We identified at least three mechanisms underpinning these defects, including altered neuroendocrine signaling in sexually mature females resulting in accelerated ovarian development, altered expression of germ cell and meiosis promoting genes at various stages during oocyte maturation, and finally a strong mitochondrial impairment in late stage oocytes from knockout females. Our findings have implications beyond FXS in the study of reproductive function and female infertility. Dissection of the translation control pathways during ovarian development using models like the knockout lines reported here may reveal novel approaches and targets for fertility treatments.

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6. Saure E, Laasonen M, Kylliäinen A, Hämäläinen S, Lepistö-Paisley T, Raevuori A. Social communication and restricted, repetitive behavior as assessed with a diagnostic tool for autism (ADOS-2) in women with anorexia nervosa. J Clin Psychol. 2024.

OBJECTIVE: In anorexia nervosa (AN), the traits of autism spectrum disorder (ASD) are associated with poor outcomes. However, the subtle nature of these characteristics remains poorly understood. We investigated the in-depth patterns of ASD traits using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) in women with AN. METHODS: Of 28 women with ICD-10 AN, 16 (age 19-30 years) participated in the ADOS-2, a video-recorded, semistructured diagnostic assessment for social communication and interaction and restricted, repetitive behaviors and interests related to ASD. None of the participants had previously been diagnosed with ASD. Other measurements included the Eating Disorder Examination Questionnaire and the Wechsler Abbreviated Scale of Intelligence-IV. RESULTS: Five individuals (18% of all, 31% of those assessed) scored above the cutoff for autism in ADOS-2. They had challenges in social communication and interaction, manifesting as sustained difficulties in social relationships and deficits in conversation skills. Few described being frequently misunderstood by others, including in the eating disorder treatment settings. Three individuals showed prominent restricted and repetitive behaviors such as ritual seeking, eating-related routines, sensory sensitivity related to food texture and selective eating, and intense interest in specific topics. The mean duration of AN in women above the cutoff was twice as long compared with those below (12.3 vs. 6.2 years). DISCUSSION: The ASD-related characteristics and behavior appear to contribute to the manifestation and duration of AN in a subgroup of women. Among these women, the traits of ASD appear to be mixed with eating disorder symptoms, which should be taken into account in the treatment.

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7. Westmore MR, Anderson KA. Adult Day Services for People With Intellectual and Developmental Disabilities: A Scoping Review. Fam Community Health. 2024.

BACKGROUND: Adult day services (ADS) are therapeutic, social, and health-related activities that keep people in their homes, rather than institutional settings. While there is a growing body of literature on ADS for older adults, there is far less information available about ADS for younger adults with intellectual and/or developmental disabilities (IDDs). METHOD: Researchers conducted a scoping review of 6 databases (892 total articles). RESULTS: After applying inclusion and exclusion criteria, 74 full articles were reviewed, with 10 articles meeting study requirements. The research team found the literature is limited to simple descriptive reports or interventions that use ADS as a platform. CONCLUSIONS: Simply put, we know very little about the services provided to younger adults with IDD in ADS. Implications for future research are discussed, including the need to catalog the services offered in ADS for younger adults with IDD and to evaluate their impact on participant well-being.

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8. Zhong S, Liu J, Lian Y, Zhou B, Wang X, Ding J. Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report. BMC Neurol. 2024; 24(1): 154.

BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar clinical, radiological, and pathological features, making it difficult to distinguish these diseases. Reversible encephalitis-like attacks are often observed in NIID. It is unclear whether they are presented in FXTAS and can be used for differential diagnosis of NIID and FXTAS. CASE PRESENTATION: A 63-year-old Chinese male with late-onset gait disturbance, cognitive decline, and reversible attacks of fever, consciousness impairment, dizziness, vomiting, and urinary incontinence underwent neurological assessment and examinations, including laboratory tests, electroencephalogram test, imaging, skin biopsy, and genetic test. Brain MRI showed T2 hyperintensities in middle cerebellar peduncle and cerebrum, in addition to cerebellar atrophy and DWI hyperintensities along the corticomedullary junction. Lesions in the brainstem were observed. Skin biopsy showed p62-positive intranuclear inclusions. The possibilities of hypoglycemia, lactic acidosis, epileptic seizures, and cerebrovascular attacks were excluded. Genetic analysis revealed CGG repeat expansion in FMR1 gene, and the number of repeats was 111. The patient was finally diagnosed as FXTAS. He received supportive treatment as well as symptomatic treatment during hospitalization. His encephalitic symptoms were completely relieved within one week. CONCLUSIONS: This is a detailed report of a case of FXTAS with reversible encephalitis-like episodes. This report provides new information for the possible and rare features of FXTAS, highlighting that encephalitis-like episodes are common in polyglycine diseases and unable to be used for differential diagnosis.

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