Pubmed du 14/03/22
1. Alcover C, Mairena M, Rodríguez-Medina J, Mezzatesta M, Balañá G, Elias N, Elias M, Arias-Pujol E. Measuring Changes in Social Skills Throughout an Intervention Program for Children with ASD, Contributions from Polar Coordinate Analysis. Journal of autism and developmental disorders. 2022.
The demand of social skills interventions for people with ASD has grown in recent years. The main goal of this research was to study social skills: « responding to interaction » and « initiating interaction », and to capture whether there were differences between an initial and a final session in a program for children with ASD. Additionally, we aimed to compare social skills patterns according to the VIQ level. The sample (N = 20) was divided into 2 subgroups depending on whether the VIQ was > 90 or < 90. We employed a mixed methods approach based on a systematic observation of social behaviors. The observational design was nomothetic, follow-up, and multidimensional. Once we confirmed inter-observer reliability for the ad hoc observational instrument we performed descriptive statistics and polar coordinate analysis using LINCE software. The results show high intragroup and intergroup variability. In general, participants with VIQ < 90 showed a better improvement in responding to interaction, whereas participants with VIQ > 90 showed more complex patterns to initiate interactions. The polar coordinate technique was useful for detecting significant relationships between autism’s social micro-behaviors. Results and information obtained through observational methodology could allow professionals to understand communication and interaction of participants.
Lien vers le texte intégral (Open Access ou abonnement)
2. Gemmer A, Mirkes K, Anneser L, Eilers T, Kibat C, Mathuru A, Ryu S, Schuman E. Oxytocin receptors influence the development and maintenance of social behavior in zebrafish (Danio rerio). Scientific reports. 2022; 12(1): 4322.
Zebrafish are highly social teleost fish and an excellent model to study social behavior. The neuropeptide Oxytocin is associated different social behaviors as well as disorders resulting in social impairment like autism spectrum disorder. However, how Oxytocin receptor signaling affects the development and expression kinetics of social behavior is not known. In this study we investigated the role of the two oxytocin receptors, Oxtr and Oxtrl, in the development and maintenance of social preference and shoaling behavior in 2- to 8-week-old zebrafish. Using CRISPR/Cas9 mediated oxtr and oxtrl knock-out fish, we found that the development of social preference is accelerated if one of the Oxytocin receptors is knocked-out and that the knock-out fish reach significantly higher levels of social preference. Moreover, oxtr(-/-) fish showed impairments in the maintenance of social preference. Social isolation prior to testing led to impaired maintenance of social preference in both wild-type and oxtr and oxtrl knock-out fish. Knocking-out either of the Oxytocin receptors also led to increased group spacing and reduced polarization in a 20-fish shoal at 8 weeks post fertilization, but not at 4. These results show that the development and maintenance of social behavior is influenced by the Oxytocin receptors and that the effects are not just pro- or antisocial, but dependent on both the age and social context of the fish.
Lien vers le texte intégral (Open Access ou abonnement)
3. Klibaite U, Kislin M, Verpeut JL, Bergeler S, Sun X, Shaevitz JW, Wang SS. Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models. Molecular autism. 2022; 13(1): 12.
BACKGROUND: Repetitive action, resistance to environmental change and fine motor disruptions are hallmarks of autism spectrum disorder (ASD) and other neurodevelopmental disorders, and vary considerably from individual to individual. In animal models, conventional behavioral phenotyping captures such fine-scale variations incompletely. Here we observed male and female C57BL/6J mice to methodically catalog adaptive movement over multiple days and examined two rodent models of developmental disorders against this dynamic baseline. We then investigated the behavioral consequences of a cerebellum-specific deletion in Tsc1 protein and a whole-brain knockout in Cntnap2 protein in mice. Both of these mutations are found in clinical conditions and have been associated with ASD. METHODS: We used advances in computer vision and deep learning, namely a generalized form of high-dimensional statistical analysis, to develop a framework for characterizing mouse movement on multiple timescales using a single popular behavioral assay, the open-field test. The pipeline takes virtual markers from pose estimation to find behavior clusters and generate wavelet signatures of behavior classes. We measured spatial and temporal habituation to a new environment across minutes and days, different types of self-grooming, locomotion and gait. RESULTS: Both Cntnap2 knockouts and L7-Tsc1 mutants showed forelimb lag during gait. L7-Tsc1 mutants and Cntnap2 knockouts showed complex defects in multi-day adaptation, lacking the tendency of wild-type mice to spend progressively more time in corners of the arena. In L7-Tsc1 mutant mice, failure to adapt took the form of maintained ambling, turning and locomotion, and an overall decrease in grooming. However, adaptation in these traits was similar between wild-type mice and Cntnap2 knockouts. L7-Tsc1 mutant and Cntnap2 knockout mouse models showed different patterns of behavioral state occupancy. LIMITATIONS: Genetic risk factors for autism are numerous, and we tested only two. Our pipeline was only done under conditions of free behavior. Testing under task or social conditions would reveal more information about behavioral dynamics and variability. CONCLUSIONS: Our automated pipeline for deep phenotyping successfully captures model-specific deviations in adaptation and movement as well as differences in the detailed structure of behavioral dynamics. The reported deficits indicate that deep phenotyping constitutes a robust set of ASD symptoms that may be considered for implementation in clinical settings as quantitative diagnosis criteria.
Lien vers le texte intégral (Open Access ou abonnement)
4. Maltman N, Klusek J, DaWalt L, Hong J, Sterling A, Berry-Kravis E, Mailick MR. Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study. Brain and cognition. 2022; 159: 105851.
The FMR1 premutation has been associated with difficulties in executive functioning, including verbal inhibition. However, little is known about the longitudinal profiles of verbal inhibition among FMR1 premutation carriers, particularly in women, and how individual factors such as aging and CGG repeat length may contribute to changes in verbal inhibition over time. The present study examined verbal inhibition performance (i.e., inhibition errors) on the Hayling Sentence Completion Task in a cohort of 92 women with the FMR1 premutation across two timepoints approximately three years apart. We examined the effects of age, CGG repeat length, and their interactions on verbal inhibition over time. We also evaluated whether response latency affected verbal inhibition errors. We found no significant change in verbal inhibition in the full cohort during the three-year study period. However, a subset of FMR1 premutation carriers, namely older participants with higher CGG repeats, evidenced greater declines in verbal inhibition over time. Longer response latencies did not compensate for verbal inhibition errors. The findings suggest that a subset of women with the FMR1 premutation may be at earlier, increased risk for changes in executive functioning, which if confirmed, should be considered as part of the clinical profile associated with the premutation.
Lien vers le texte intégral (Open Access ou abonnement)
5. Schworer EK, Esbensen AJ, Nguyen V, Bullard L, Fidler DJ, Daunhauer LA, Mervis CB, Becerra AM, Abbeduto L, Thurman AJ. Patterns and predictors of adaptive skills in 2- to 7-year-old children with Down syndrome. Journal of neurodevelopmental disorders. 2022; 14(1): 18.
BACKGROUND: There is substantial variability in adaptive skills among individuals with Down syndrome. Few studies, however, have focused on the early developmental period or on the potential sources of variability in adaptive skills. This study characterizes adaptive skills in young children with Down syndrome and investigates child characteristics associated with adaptive skills. METHODS: Participants were 44 children with Down syndrome ranging in age from 2.50 to 7.99 years (M = 4.66 years, SD = 1.46). The Vineland Adaptive Behavior Scales-3 (VABS-3) Comprehensive Interview Form was used to assess adaptive behavior in the three core domains: socialization, daily living, and communication skills. Caregivers also reported on motor skills and autism spectrum disorder symptoms. Child cognitive abilities were assessed. RESULTS: Analyses comparing mean standard score performance across the three VABS-3 core domains demonstrated significant differences between all pairs of domains, resulting in a group-level pattern of socialization > daily living > communication skills. At the individual level, 10 different patterns of relative strength and weakness were identified, with only 18% of participants evidencing significant differences between adaptive skill domain standard scores corresponding to the group-level pattern of significant differences. Child characteristics (cognitive abilities, motor skills, and autism spectrum disorder symptoms) were significantly associated with VABS-3 adaptive domain standard scores. CONCLUSION: These findings underscore the importance of individualizing intervention programs focused on improving the adaptive skills of young children with Down syndrome based on consideration of the child’s relative adaptive strengths and weaknesses.
