Pubmed du 06/02/23
1. Byiers BJ, Merbler AM, Burkitt CC, Beisang A, Symons FJ. Preliminary assessment of the reliability and validity of infrared skin temperature measurements in Rett syndrome. Journal of intellectual disability research : JIDR. 2023.
BACKGROUND: As clinical trials for Rett syndrome are underway, there is a need to validate potential supplemental outcome measures that reflect important signs and symptoms. Autonomic dysfunction, particularly vasomotor dysfunction, is one potential area for which biomarkers could be developed. METHODS: In the current study, infrared thermal images of hands and feet from 26 females with Rett syndrome (aged 62 months to 39 years), and 17 females without known intellectual, genetic or neurological disorders (aged 55 months to 39 years) were collected. Between-group differences in skin temperature, and temporal stability of skin temperature measures in the Rett syndrome group, and relationships between skin temperature measures and parent-reported and researcher-evaluated indicators of autonomic dysfunction were evaluated. RESULTS: Between-group differences showed lower hand and foot temperatures in the Rett syndrome group. Hand temperature measurements were stable over time and were moderately correlated with parent-reported autonomic symptoms. Foot temperature measurements were more variable than hand temperatures but showed stronger correlations with parent-reported autonomic symptoms. CONCLUSIONS: The results provide preliminary support for the reliability and validity of hand and foot skin temperature measures in Rett syndrome. Additional research is needed to replicate these results and evaluate the temporal stability of these measures over shorter time scales.
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2. Demopoulos C, Kopald BE, Bangera N, Paulson K, David Lewine J. Rapid auditory processing of puretones is associated with basic components of language in individuals with autism spectrum disorders. Brain and language. 2023; 238: 105229.
The goal of this study was to identify the specific domains of language that may be affected by deficits in rapid auditory processing in individuals with ASD. Auditory evoked fields were collected from 63 children diagnosed with ASD in order to evaluate processing of puretone sounds presented in rapid succession. Measures of language and its components were assessed via standardized clinical tools to quantify expressive and receptive language, vocabulary, articulation, and phonological processing abilities. Rapid processing was significantly and bilaterally associated with phonological awareness, vocabulary, and articulation. Phonological processing was found to mediate the relationship between rapid processing and language. M100 response latency was not significantly associated with any language measures. Results suggest that rapid processing deficits may impact the basic components of language such as phonological processing, and the downstream effect of this impact may in turn impact overall language development.
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3. Eigsti IM, Bennetto L. Grammaticality judgments in autism: Deviance or delay – CORRIGENDUM. Journal of child language. 2023: 1.
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4. Lee EAL, Scott M, Black MH, D’Arcy E, Tan T, Sheehy L, Bölte S, Girdler S. « He Sees his Autism as a Strength, Not a Deficit Now »: A Repeated Cross-Sectional Study Investigating the Impact of Strengths-Based Programs on Autistic Adolescents. Journal of autism and developmental disorders. 2023: 1-16.
Recent studies have reported that strengths-based programs, leveraging autistic adolescents’ abilities and interests, could improve their skills and facilitate social engagement. However, little is known about the long-term impact of strengths-based approaches. This study aimed to explore the long-term outcomes of community strengths-based programs designed to support autistic adolescents in developing interests and skills in Science, Technology, Engineering, Arts, and Mathematics (STEAM) and the factors influencing their participation in these programs. A repeated cross-sectional survey study over three years recruited 52 parents in 2018, 52 parents in 2019, and 38 parents in 2020. Results highlighted the positive impact of these programs on autistic adolescents’ health and well-being, social relationships and interactions, self-confidence and self-esteem, sense of belonging, and activities and participation. Five key elements influencing participation included the enthusiasm of the participants, their self-perception, the approach of the programs, the learning environment, and the attitudes of the mentors. This study implies that strengths-based approaches to intervention and support for autistic adolescents in a supported environment are a social model solution that could potentially have positive participant outcomes. Findings from this study could provide a framework underpinning future strengths-based interventions.
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5. Lee JH, Yun J, Hwang H, Kim SM, Han DH. The Study on the Identification of Musical Passages for an Emotion Perception Scale for People With Developmental Disabilities. Journal of Korean medical science. 2023; 38(5): e30.
BACKGROUND: Emotion recognition is essential to the social adjustment and social interaction of people with intellectual and developmental disabilities (IDDs). Given that music is a medium for expressing and conveying human emotion, we conducted this preliminary study to identify musical passages representing the basic human emotions of happiness, sadness, and anger, with the goal of developing a music-based emotion perception scale for IDDs. METHODS: To identify musical passages for emotion perception, 20 certified music therapists evaluated 100 selected musical passages and established 60 pieces that yielded the highest agreement for each emotion category. During the second phase of this study, 300 neurotypical participants rated 60 passages in terms of the perceived type and intensity of emotions expressed. RESULTS: The 60 passages showed high reliability and were statistically classified into three factors: happiness, sadness, and anger. The k-means cluster analysis yielded a cut-off score of 41 for the low emotion perception group (F = 1120.63, P < 0.001). The hierarchical logistic regression analysis revealed that only model 3 (musical passages) was significantly associated with low emotion perception (step χ² = 227.8, P < 0.001). CONCLUSION: The selected musical passages demonstrated high reliability and established three factors for identifying perceptions of happiness, sadness, and anger. Neither psychological status nor individual demographic characteristics affected the emotion perception results.
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6. Toya A, Fukada M, Aoki E, Matsuki T, Ueda M, Eda S, Hashizume Y, Iio A, Masaki S, Nakayama A. The distribution of neuroligin4, an autism-related postsynaptic molecule, in the human brain. Molecular brain. 2023; 16(1): 20.
NLGN4X was identified as a single causative gene of rare familial nonsyndromic autism for the first time. It encodes the postsynaptic membrane protein Neuroligin4 (NLGN4), the functions and roles of which, however, are not fully understood due to the lack of a closely homologous gene in rodents. It has been confirmed only recently that human NLGN4 is abundantly expressed in the cerebral cortex and is localized mainly to excitatory synapses. However, the detailed histological distribution of NLGN4, which may have important implications regarding the relationships between NLGN4 and autistic phenotypes, has not been clarified. In this study, we raised specific monoclonal and polyclonal antibodies against NLGN4 and examined the distribution of NLGN4 in developing and developed human brains by immunohistochemistry. We found that, in the brain, NLGN4 is expressed almost exclusively in neurons, in which it has a widespread cytoplasmic pattern of distribution. Among various types of neurons with NLGN4 expression, we identified consistently high expression of NLGN4 in hypothalamic oxytocin (OXT)/vasopressin (AVP)-producing cells. Quantitative analyses revealed that the majority of OXT/AVP-producing neurons expressed NLGN4. NLGN4 signals in other large neurons, such as pyramidal cells in the cerebral cortex and hippocampus as well as neurons in the locus coeruleus and the raphe nucleus, were also remarkable, clearly contrasting with no or scarce signals in Purkinje cells. These data suggest that NLGN4 functions in systems involved in intellectual abilities, social abilities, and sleep and wakefulness, impairments of which are commonly seen in autism.
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7. Vutskits L. Opioids and autism spectrum disorder: liaisons dangereuses?. British journal of anaesthesia. 2023.
A recent laboratory study in the Journal examined the effects of repeated exposures of neonatal mice to fentanyl on autism-like behaviour via opioid receptor-mediated DNA hypermethylation of the Grin2B gene, which encodes the GluN2B subunit of the NMDA receptor. These experiments provide mechanisms and biological plausibility but do not directly demonstrate that opioid exposure in early life induces autism spectrum disorder in humans. Experimental modelling of human neuropsychiatric disorders is extremely challenging since most subjective psychiatric symptoms used to establish diagnosis in humans cannot be convincingly ascertained in laboratory rodents. While some human epidemiological data show associations between repeated exposures to opioids during early life, it remains undetermined whether opioid exposure is an independent risk factor for developing autism spectrum disorder in the young.
