Pubmed du 03/05/21
1. Cherepanov SM, Gerasimenko M, Yuhi T, Furuhara K, Tsuji C, Yokoyama S, Nakayama KI, Nishiyama M, Higashida H. Oxytocin ameliorates impaired social behavior in a Chd8 haploinsufficiency mouse model of autism. BMC neuroscience. 2021; 22(1): 32.
BACKGROUND: Autism spectrum disorder (ASD) is characterized by the core symptoms of impaired social interactions. Increasing evidence suggests that ASD has a strong genetic link with mutations in chromodomain helicase DNA binding protein 8 (CHD8), a gene encoding a chromatin remodeler. It has previously been shown that Chd8 haplodeficient male mice manifest ASD-like behavioral characteristics such as anxiety and altered social behavior. Along with that, oxytocin (OT) is one of the main neuropeptides involved in social behavior. Administration of OT has shown improvement of social behavior in genetic animal models of ASD. The present study was undertaken to further explore behavioral abnormalities of Chd8 haplodeficient mice of both sexes, their link with OT, and possible effects of OT administration. First, we performed a battery of behavioral tests on wild-type and Chd8(+/∆SL) female and male mice. Next, we measured plasma OT levels and finally studied the effects of intraperitoneal OT injection on observed behavioral deficits. RESULTS: We showed general anxiety phenotype in Chd8(+/∆SL) mice regardless of sex, the depressive phenotype in Chd8(+/∆SL) female mice only and bidirectional social deficit in female and male mice. We observed decreased level of OT in Chd(+/∆SL) mice, possibly driven by males. Mice injected by OT demonstrated recovery of social behavior, while reduced anxiety was observed only in male mice. CONCLUSIONS: Here, we demonstrated that abnormal social behaviors were observed in both male and female Chd8(+/∆SL) mice. The ability of peripheral OT administration to affect such behaviors along with altered plasma OT levels indicated a possible link between Chd8 + /∆SL and OT in the pathogenesis of ASD as well as the possible usefulness of OT as a therapeutic tool for ASD patients with CHD8 mutations.
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2. Ellis MJ, Larsen K, Havighurst SS. Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents’ Experiences of Patient Regression. Journal of autism and developmental disorders. 2022; 52(4): 1495-506.
Childhood Disintegrative Disorder (CDD) is a rare and little researched developmental disorder characterised by regression in language and social skills after a period of seemingly normal development until at least the age of 2 years. The study contacted all parents of CDD patients in Norway to assess patient symptomatology and parents’ experiences of regression via questionnaire or interview. There were 12 participants. Symptomatology was in-line with previous studies, with universal regression in language and social skills and onset predominantly at 2-4 years. Regression was connected to feelings of ‘loss’ and uncertainty over the prognosis for CDD patients. The study supported CDD diagnostic criteria and showed that CDD patient regression has profound implications for parental well-being.
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3. He C, Cortes JM, Kang X, Cao J, Chen H, Guo X, Wang R, Kong L, Huang X, Xiao J, Shan X, Feng R, Chen H, Duan X. Individual-based morphological brain network organization and its association with autistic symptoms in young children with autism spectrum disorder. Human brain mapping. 2021; 42(10): 3282-94.
Individual-based morphological brain networks built from T1-weighted magnetic resonance imaging (MRI) reflect synchronous maturation intensities between anatomical regions at the individual level. Autism spectrum disorder (ASD) is a socio-cognitive and neurodevelopmental disorder with high neuroanatomical heterogeneity, but the specific patterns of morphological networks in ASD remain largely unexplored at the individual level. In this study, individual-based morphological networks were constructed by using high-resolution structural MRI data from 40 young children with ASD (age range: 2-8 years) and 38 age-, gender-, and handedness-matched typically developing children (TDC). Measurements were recorded as threefold. Results showed that compared with TDC, young children with ASD exhibited lower values of small-worldness (i.e., σ) of individual-level morphological brain networks, increased morphological connectivity in cortico-striatum-thalamic-cortical (CSTC) circuitry, and decreased morphological connectivity in the cortico-cortical network. In addition, morphological connectivity abnormalities can predict the severity of social communication deficits in young children with ASD, thus confirming an associational impact at the behavioral level. These findings suggest that the morphological brain network in the autistic developmental brain is inefficient in segregating and distributing information. The results also highlight the crucial role of abnormal morphological connectivity patterns in the socio-cognitive deficits of ASD and support the possible use of the aberrant developmental patterns of morphological brain networks in revealing new clinically-relevant biomarkers for ASD.
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4. Romero-García R, Martínez-Tomás R, Pozo P, de la Paz F, Sarriá E. Q-CHAT-NAO: A robotic approach to autism screening in toddlers. Journal of biomedical informatics. 2021; 118: 103797.
The use of humanoid robots as assistants in therapy processes is not new. Several projects in the past several years have achieved promising results when combining human-robot interaction with standard techniques. Moreover, there are multiple screening systems for autism; one of the most used systems is the Quantitative Checklist for Autism in Toddlers (Q-CHAT-10), which includes ten questions to be answered by the parents or caregivers of a child. We present Q-CHAT-NAO, an observation-based autism screening system supported by a NAO robot. It includes the six questions of the Q-CHAT-10 that can be adapted to work in a robotic context; unlike the original system, it obtains information from the toddler instead of from an indirect source. The detection results obtained after applying machine learning models to the six questions in the Autistic Spectrum Disorder Screening Data for Toddlers dataset were almost equivalent to those of the original version with ten questions. These findings indicate that the Q-CHAT-NAO could be a screening option that would exploit all the benefits related to human-robot interaction.
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5. Shafer RL, Lewis MH, Newell KM, Bodfish JW. Atypical neural processing during the execution of complex sensorimotor behavior in autism. Behavioural brain research. 2021; 409: 113337.
Stereotyped behavior is rhythmic, repetitive movement that is essentially invariant in form. Stereotypy is common in several clinical disorders, such as autism spectrum disorders (ASD), where it is considered maladaptive. However, it also occurs early in typical development (TD) where it is hypothesized to serve as the foundation on which complex, adaptive motor behavior develops. This transition from stereotyped to complex movement in TD is thought to be supported by sensorimotor integration. Stereotypy in clinical disorders may persist due to deficits in sensorimotor integration. The present study assessed whether differences in sensorimotor processing may limit the expression of complex motor behavior in individuals with ASD and contribute to the clinical stereotypy observed in this population. Adult participants with ASD and TD performed a computer-based stimulus-tracking task in the presence and absence of visual feedback. Electroencephalography was recorded during the task. Groups were compared on motor performance (root mean square error), motor complexity (sample entropy), and neural complexity (multiscale sample entropy of the electroencephalography signal) in the presence and absence of visual feedback. No group differences were found for motor performance or motor complexity. The ASD group demonstrated greater neural complexity and greater differences between feedback conditions than TD individuals, specifically in signals relevant to sensorimotor processing. Motor performance and motor complexity correlated with clinical stereotypy in the ASD group. These findings support the hypothesis that individuals with ASD have differences in sensorimotor processing when executing complex motor behavior and that stereotypy is associated with low motor complexity.
