Pubmed du 28/05/23
1. Chen YH, Drye M, Chen Q, Fecher M, Liu G, Guthrie W. Delay from Screening to Diagnosis in Autism Spectrum Disorder: Results from a Large National Health Research Network. The Journal of pediatrics. 2023: 113514.
To examine delay from developmental screening to autism diagnosis, we used real-world healthcare data from a national research network to estimate the time between these events. We found an average delay of over 2 years from first screening to diagnosis, with no significant differences observed by sex, race, or ethnicity.
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2. Karaca M, Tahtasakal R, Dana H, Sahin M, Pirencioglu SN, Tughan E, Dal F, Demirci E, Sener EF. Decreased levels of alpha synuclein in families with autism spectrum disorder and relationship between the disease severity. Brain research. 2023: 148410.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorders that begin in early childhood. Mutations in α-synuclein (SNCA) gene have been shown to result in the accumulation of α-synuclein, which occurs in many neurodegenerative diseases. Our aim was to determine the changes in the expression profile and protein level of this gene by comparing the autistic children with their healthy siblings, their mothers and healthy controls in order to elucidate the possible contribution of the SNCA gene to the etiology of ASD. 50 autistic patients, their mothers, siblings and 25 healthy controls and their mothers were enrolled to determine SNCA gene expression and serum α-synuclein levels. It was determined that α-synuclein serum levels decreased in the autistic patients. Similarly, it was found that SNCA gene expression and serum α-synuclein levels were significantly decreased in the mothers of the patients. Significant negative correlation was observed between the SNCA gene and protein expression amounts in the 6-8 age of the patients. This family-based study is the first in the literature, with both gene expression and serum levels of α-synuclein. The relationship between ASD severity and α-synuclein level needs to be confirmed in larger-scale studies.
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3. Moon J, Ke F. Effects of Adaptive Prompts in Virtual Reality-Based Social Skills Training for Children with Autism. Journal of autism and developmental disorders. 2023.
The purpose of this single-case experimental design (SCED) study is to investigate how adaptive prompts in virtual reality (VR)-based social skills training affect the social skills performance of autistic children. Adaptive prompts are driven by autistic children’s emotional states. To integrate adaptive prompts in VR-based training, we conducted speech data mining and endorsed micro-adaptivity design. We recruited four autistic children (12-13 years) for the SCED study. We carried out alternating treatments design to evaluate the impacts of adaptive and non-adaptive prompting conditions throughout a series of VR-based social skills training sessions. Using mixed-method data collection and analyses, we found that adaptive prompts can foster autistic children’s desirable social skills performance in VR-based training. Based on the study findings, we also describe design implications and limitations for future research.
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4. Taheri F, Joushi S, Esmaeilpour K, Sheibani V, Ebrahimi MN, Taheri Zadeh Z. Music alleviates cognitive impairments in an animal model of autism. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 2023.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core symptoms including impairment in social communication and restrictive and repetitive behaviors and interests. Music has emerged in the past decade as an intervention therapy for children with ASD. The aim of the present study was to evaluate the effects of music on cognition impairments in the valproic acid (VPA) rat model of autism. The VPA was administered for animal modeling of autism on embryonic day 12.5 (E12.5) (600 mg/kg). Male and female pups were sub divided into four main groups (Saline.Non-music, VPA.Non-music, Saline.Music, and VPA.Music). The rats in the music groups were exposed to Mozart’s piano sonata K.448 for 30 days (4 h/day), from postnatal day (PND) 21 to 50. Autistic-like behaviors were tested using a social interaction, the Morris water maze (MWM), and a passive avoidance tasks at the end of the PND 50. Our results demonstrated that VPA-exposed rat pups had significantly lower sociability and social memory performance compared with the saline-exposed rats in both sexes. VPA-exposed rat pups exhibited learning and memory impairments in the MWM and passive avoidance tasks. Our results demonstrated that music improved sociability in VPA-exposed rats, especially in males. Furthermore, our findings revealed that music improved learning impairments in VPA-exposed male rats in MWM task. In addition, music improved spatial memory impairments in VPA-exposed rats of both sexes. We also found that music improved passive avoidance memory impairments in VPA-exposed rats of both sexes, especially in females. More investigation in future studies are needed.
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5. Tokatly Latzer I, Hanson E, Bertoldi M, García-Cazorla À, Tsuboyama M, MacMullin P, Rotenberg A, Roullet JB, Pearl PL. Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency. Developmental medicine and child neurology. 2023.
AIM: To elucidate the etiological aspects of autism spectrum disorder (ASD) in succinic semialdehyde dehydrogenase deficiency (SSADHD), related to dysregulation of γ-aminobutyric acid (GABA) and the imbalance of excitatory and inhibitory neurotransmission. METHOD: In this prospective, international study, individuals with SSADHD underwent neuropsychological assessments, as well as biochemical, neurophysiological, and neuroimaging evaluations. RESULTS: Of the 29 individuals (17 females) enrolled (median age [IQR] 10 years 5 months [5 years 11 months-18 years 1 month]), 16 were diagnosed with ASD. ASD severity significantly increased with age (r = 0.67, p < 0.001) but was inversely correlated with plasma GABA (r = -0.67, p < 0.001) and γ-hydroxybutyrate levels (r = -0.538, p = 0.004), and resting motor threshold as measured by transcranial magnetic stimulation (r = -0.44, p = 0.03). A discriminative analysis indicated that an age older than 7 years 2 months (p = 0.004) and plasma GABA levels less than 2.47 μM (p = 0.01) are the threshold values beyond which the likelihood of ASD presenting in individuals with SSADHD is increased. INTERPRETATION: ASD is prevalent but not universal in SSADHD, and it can be predicted by lower levels of plasma GABA and GABA-related metabolites. ASD severity in SSADHD increases with age and the loss of cortical inhibition. These findings add insight into the pathophysiology of ASD and may facilitate its early diagnosis and intervention in individuals with SSADHD.
