1. Napoli E, Song G, Panoutsopoulos A, Riyadh MA, Kaushik G, Halmai J, Levenson R, Zarbalis KS, Giulivi C. {{Beyond autophagy: a novel role for autism-linked Wdfy3 in brain mitophagy}}. {Sci Rep}. 2018; 8(1): 11348.
WD repeat and FYVE domain-containing 3 (WDFY3; also known as Autophagy-Linked FYVE or Alfy) is an identified intellectual disability, developmental delay and autism risk gene. This gene encodes for a scaffolding protein that is expressed in both the developing and adult central nervous system and required for autophagy and aggrephagy with yet unexplored roles in mitophagy. Given that mitochondrial trafficking, dynamics and remodeling have key roles in synaptic plasticity, we tested the role of Wdfy3 on brain bioenergetics by using Wdfy3(+/lacZ) mice, the only known Wdfy3 mutant animal model with overt neurodevelopmental anomalies that survive to adulthood. We found that Wdfy3 is required for sustaining brain bioenergetics and morphology via mitophagy. Decreased mitochondrial quality control by conventional mitophagy was partly compensated for by the increased formation of mitochondria-derived vesicles (MDV) targeted to lysosomal degradation (micromitophagy). These observations, extended through proteomic analysis of mitochondria-enriched cortical fractions, showed significant enrichment for pathways associated with mitophagy, mitochondrial transport and axon guidance via semaphorin, Robo, L1cam and Eph-ephrin signaling. Collectively, our findings support a critical role for Wdfy3 in mitochondrial homeostasis with implications for neuron differentiation, neurodevelopment and age-dependent neurodegeneration.
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2. Sharma A, Khosla A, Khosla M, Rao Y. {{Fast and Accurate Diagnosis of Autism (FADA): a novel hierarchical fuzzy system based autism detection tool}}. {Australasian physical & engineering sciences in medicine}. 2018.
The main aim of this research work was to develop and validate a novel graphical user interface based hierarchical fuzzy autism detection tool named as « Fast and Accurate Diagnosis of Autism » for the diagnosis of autism disorder quickly and accurately and in addition, this tool also highlights the highly impaired area in each participant. Two groups of children had been participated in this study which includes autism group (N = 40) and normal group (N = 40). The hierarchical fuzzy expert system had been developed using IF-Then rules based on the experiences of the specialists and both the groups were tested on the designed system. It had been validated that the designed system was easily discriminating between the autistic participants and normal participants with an accuracy of 99%. Moreover, the results of the designed system were compared with Childhood Autism Rating Scale; also the tool was clearly highlighting the most impaired area in each participant. It had also been seen that the designed system has a sensitivity of 98.2% and specificity of 99.2%. It can be said that the designed tool can be used by doctors to diagnose autism along with its severity levels and to highlight the highly impaired area accurately and in no time.
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3. Thiemann-Bourque K, Feldmiller S, Hoffman L, Johner S. {{Incorporating a Peer-Mediated Approach Into Speech-Generating Device Intervention: Effects on Communication of Preschoolers With Autism Spectrum Disorder}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(8): 2045-61.
Purpose: This study examined the effects of incorporating a peer-mediated approach into a speech-generating device (SGD) intervention on communication of 45 nonverbal and minimally verbal preschoolers with autism spectrum disorder (ASD) and 95 peers without disabilities. The SGD was an iPad 2 (Apple) with voice output app. Method: Effects were evaluated using a multivariate randomized control trial design with repeated measures for 4 cohorts across baseline, intervention, generalization, and maintenance phases. Children were randomly assigned to an experimental treatment that trained peers on use of the SGD or a business-as-usual comparison condition with untrained peers. Communication outcomes were measured for both children with ASD and peers. Results: Children receiving the treatment demonstrated significant increases in rates of communication and more balanced responses and initiations (a measure of reciprocity) than children in the comparison group. They were able to generalize improvements and maintain communication gains. Treatment fidelity was high for school staff and peer implementation. Conclusions: Results support positive effects on communication of teaching young children with ASD and peers without disabilities to use the same SGD system in typical preschool activities. SGD interventions that utilize peer-mediated approaches may improve core deficits in communication and reciprocity and allow for greater classroom social participation and interactions with peers.
