1. Daneshmandpour Y, Darvish H, Emamalizadeh B. {{RIT2: responsible and susceptible gene for neurological and psychiatric disorders}}. {Molecular genetics and genomics : MGG}. 2018; 293(4): 785-92.
RIT2 gene was recently introduced as a susceptibility gene in neurological disorders, a group of major problems in human society affecting millions of people worldwide. Several variants, including single nucleotide polymorphisms and CNVs, have been identified and studied in different populations. In this review, we have summarized the studies relevant to the RIT2 gene and its related disorders, including Parkinson’s disease, schizophrenia, and autism. The protein product of RIT2 is a member of the Ras superfamily that plays important roles in many vital cellular functions, such as differentiation and survival. We have also investigated the protein network of the RIT2 protein and the diseases related to members of this network so as to obtain some clues for future studies by identifying the molecular pathophysiology of neurological disorders and revealing new possible disorders related to RIT2.
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2. Fulceri F, Tonacci A, Lucaferro A, Apicella F, Narzisi A, Vincenti G, Muratori F, Contaldo A. {{Interpersonal motor coordination during joint actions in children with and without autism spectrum disorder: The role of motor information}}. {Res Dev Disabil}. 2018; 80: 13-23.
BACKGROUND: Kinematics plays a key role in action prediction, imitation and joint action coordination. Despite people with autism spectrum disorder (ASD) show a failure to use kinematic cues during observation and imitation, there is a paucity of studies exploring the role of this dysfunction during joint actions in children with ASD. AIM: To evaluate the interpersonal motor coordination of children with ASD and typically developing (TD) children during a joint action task. METHOD: Twenty-two participants performed two cooperative tasks. In the first one (Clear End-Point), children were provided with a priori information on movement end-point. In the second one (Unclear End-Point), the end-point was unknown and children had to use kinematic cues to accomplish the shared goal. RESULTS: We found no between-group differences in the first task, even if children with ASD displayed greater reaction time variability. In the second task, they showed less accurate and slower movements than TD children. Moreover, their movement features did not differ between the two tasks, whereas TD children showed reduced reaction time variability and number of errors in the second task. CONCLUSION: Children with ASD were impaired in joint action coordination when they had to rely only on kinematic information. They were not able to pay more attention to the kinematic cues in absence of a visual goal.
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3. Hirota T, So R, Kim YS, Leventhal B, Epstein RA. {{A systematic review of screening tools in non-young children and adults for autism spectrum disorder}}. {Res Dev Disabil}. 2018; 80: 1-12.
BACKGROUND: Existing reviews of screening tools for Autism Spectrum Disorder (ASD) focus on young children, and not all screening tools have been examined against validated diagnostic procedures. AIMS: To examine the validity of screening tools for ASD in non-young children and adults to provide clinical recommendations about the use of these tools in a variety of clinical settings. METHODS AND PROCEDURES: Electronic databases, including MEDLINE, EMBASE, PsychINFO, Cochrane Library and CINAHL, were searched through March 2017. Studies examining the validity of ASD screening tools against the Autism Diagnostic Observation Schedule and/or the Autism Diagnostic Interview – Revised in non-young children (age 4 or above) and adults were included. Three authors independently reviewed each article for data extraction and quality assessment. OUTCOMES AND RESULTS: 14 studies met the inclusion criteria, of which 11 studies were with children (4-18 years of age) and 3 studies included adults only (19 years of age and above). Included studies were conducted in a general population/low-risk sample (N=3) and a clinically referred/high-risk sample (N=11). In total 11 tools were included. CONCLUSIONS AND IMPLICATIONS: Only three screening tools (the Autism-Spectrum Quotient, the Social Communication Questionnaire, and the Social Responsiveness Scale) were examined in more than 2 studies. These tools may assist in differentiating ASD from other neurodevelopmental and psychiatric disorders or typically developed children. In young adult populations, the paucity of the existing research in this group limits definitive conclusion and recommendations.
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4. Siniscalco D, Schultz S, Brigida AL, Antonucci N. {{Inflammation and Neuro-Immune Dysregulations in Autism Spectrum Disorders}}. {Pharmaceuticals (Basel, Switzerland)}. 2018; 11(2).
Autism Spectrum Disorder (ASD) is characterized by persistent deficits in social communication and interaction and restricted-repetitive patterns of behavior, interests, or activities. Strong inflammation states are associated with ASD. This inflammatory condition is often linked to immune system dysfunction. Several cell types are enrolled to trigger and sustain these processes. Neuro-inflammation and neuro-immune abnormalities have now been established in ASD as key factors in its development and maintenance. In this review, we will explore inflammatory conditions, dysfunctions in neuro-immune cross-talk, and immune system treatments in ASD management.
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5. Zhang B, Gokce O, Hale WD, Brose N, Sudhof TC. {{Autism-associated neuroligin-4 mutation selectively impairs glycinergic synaptic transmission in mouse brainstem synapses}}. {The Journal of experimental medicine}. 2018; 215(6): 1543-53.
In human patients, loss-of-function mutations of the postsynaptic cell-adhesion molecule neuroligin-4 were repeatedly identified as monogenetic causes of autism. In mice, neuroligin-4 deletions caused autism-related behavioral impairments and subtle changes in synaptic transmission, and neuroligin-4 was found, at least in part, at glycinergic synapses. However, low expression levels precluded a comprehensive analysis of neuroligin-4 localization, and overexpression of neuroligin-4 puzzlingly impaired excitatory but not inhibitory synaptic function. As a result, the function of neuroligin-4 remains unclear, as does its relation to other neuroligins. To clarify these issues, we systematically examined the function of neuroligin-4, focusing on excitatory and inhibitory inputs to defined projection neurons of the mouse brainstem as central model synapses. We show that loss of neuroligin-4 causes a profound impairment of glycinergic but not glutamatergic synaptic transmission and a decrease in glycinergic synapse numbers. Thus, neuroligin-4 is essential for the organization and/or maintenance of glycinergic synapses.
