1. Chen RY, Feltes JR, Tzeng WS, Lu ZY, Pan M, Zhao N, Talkin R, Javaherian K, Glowinski A, Ross W. {{Phone-Based Interventions in Adolescent Psychiatry: A Perspective and Proof of Concept Pilot Study With a Focus on Depression and Autism}}. {JMIR Res Protoc}. 2017; 6(6): e114.
BACKGROUND: Telemedicine has emerged as an innovative platform to diagnose and treat psychiatric disorders in a cost-effective fashion. Previous studies have laid the functional framework for monitoring and treating child psychiatric disorders electronically using videoconferencing, mobile phones (smartphones), and Web-based apps. However, phone call and text message (short message service, SMS) interventions in adolescent psychiatry are less studied than other electronic platforms. Further investigations on the development of these interventions are needed. OBJECTIVE: The aim of this paper was to explore the utility of text message interventions in adolescent psychiatry and describe a user feedback-driven iterative design process for text message systems. METHODS: We developed automated text message interventions using a platform for both depression (EpxDepression) and autism spectrum disorder (ASD; EpxAutism) and conducted 2 pilot studies for each intervention (N=3 and N=6, respectively). The interventions were prescribed by and accessible to the patients’ healthcare providers. EpxDepression and EpxAutism utilized an automated system to triage patients into 1 of 3 risk categories based on their text responses and alerted providers directly via phone and an online interface when patients met provider-specified risk criteria. Rapid text-based feedback from participants and interviews with providers allowed for quick iterative cycles to improve interventions. RESULTS: Patients using EpxDepression had high weekly response rates (100% over 2 to 4 months), but exhibited message fatigue with daily prompts with mean (SD) overall response rates of 66.3% (21.6%) and 64.7% (8.2%) for mood and sleep questionnaires, respectively. In contrast, parents using EpxAutism displayed both high weekly and overall response rates (100% and 85%, respectively, over 1 to 4 months) that did not decay significantly with time. Monthly participant feedback surveys for EpxDepression (7 surveys) and EpxAutism (18 surveys) preliminarily indicated that for both interventions, daily messages constituted the « perfect amount » of contact and that EpxAutism, but not EpxDepression, improved patient communication with providers. Notably, EpxDepression detected thoughts of self-harm in patients before their case managers or caregivers were aware of such ideation. CONCLUSIONS: Text-message interventions in adolescent psychiatry can provide a cost-effective and engaging method to track symptoms, behavior, and ideation over time. Following the collection of pilot data and feedback from providers and patients, larger studies are already underway to validate the clinical utility of EpxDepression and EpxAutism. TRIAL REGISTRATION: Clinicaltrials.gov NCT03002311; https://clinicaltrials.gov/ct2/show/NCT03002311 (Archived by WebCite at http://www.webcitation.org/6qQtlCIS0).
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2. Hecht M, Tabib A, Kahan T, Orlanski S, Gropp M, Tabach Y, Yanuka O, Benvenisty N, Keshet I, Cedar H. {{Epigenetic mechanism of FMR1 inactivation in Fragile X syndrome}}. {Int J Dev Biol}. 2017; 61(3-4-5): 285-92.
Fragile X syndrome is the most frequent cause of inherited intellectual disability. The primary molecular defect in this disease is the expansion of a CGG repeat in the 5′ region of the fragile X mental retardation1 (FMR1) gene, leading to de novo methylation of the promoter and inactivation of this otherwise normal gene, but little is known about how these epigenetic changes occur during development. In order to gain insight into the nature of this process, we have used cell fusion technology to recapitulate the events that occur during early embryogenesis. These experiments suggest that the naturally occurring Fragile XFMR1 5′ region undergoes inactivation post implantation in a Dicer/Ago-dependent targeted process which involves local SUV39H-mediated tri-methylation of histone H3K9. It thus appears that Fragile X syndrome may come about through inadvertent siRNA-mediated heterochromatinization.
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3. Hunt J, van Hooydonk E, Faller P, Mailloux Z, Schaaf R. {{Manualization of Occupational Therapy Using Ayres Sensory Integration(R) for Autism}}. {OTJR (Thorofare N J)}. 2017; 37(3): 141-8.
This article reports on the development of a Stage 3 manual (following pilot effectiveness study) for implementing occupational therapy using Ayres Sensory Integration(R) (OT/ASI) for children with autism spectrum disorders to enhance participation in daily occupations. Three stakeholder groups were surveyed to aid in translation of manual from research to practice (i.e., Stage 3 manual) and an expert consensus meeting was held to finalize recommendations. Data indicated that the manuals usability could be improved by including a section on frequently encountered problems and solutions, and by including video case examples. Also recommended were greater chapter uniformity, improved clarity of forms and charts, and inclusion of a glossary. Changes were made and subject to expert review and consensus using modified Delphi process. The Stage 3 manual has been rigorously vetted and is ready for practice and research replication.
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4. Kana RK, Sartin EB, Stevens C, Jr., Deshpande HD, Klein C, Klinger MR, Klinger LG. {{Neural Networks Underlying Language and Social Cognition during Self-Other Processing in Autism Spectrum Disorders}}. {Neuropsychologia}. 2017.
The social communication impairments defining autism spectrum disorders (ASD) may be built upon core deficits in perspective-taking, language processing, and self-other representation. Self-referential processing entails the ability to incorporate self-awareness, self-judgment, and self-memory in information processing. Very few studies have examined the neural bases of integrating self-other representation and semantic processing in individuals with ASD. The main objective of this functional MRI study is to examine the role of language and social brain networks in self-other processing in young adults with ASD. Nineteen high-functioning male adults with ASD and 19 age-sex-and-IQ-matched typically developing (TD) control participants made « yes » or « no » judgments of whether an adjective, presented visually, described them (self) or their favorite teacher (other). Both ASD and TD participants showed significantly increased activity in the medial prefrontal cortex (MPFC) during self and other processing relative to letter search. Analyses of group differences revealed significantly reduced activity in left inferior frontal gyrus (LIFG), and left inferior parietal lobule (LIPL) in ASD participants, relative to TD controls. ASD participants also showed significantly weaker functional connectivity of the anterior cingulate cortex (ACC) with several brain areas while processing self-related words. The LIFG and IPL are important regions functionally at the intersection of language and social roles; reduced recruitment of these regions in ASD participants may suggest poor level of semantic and social processing. In addition, poor connectivity of the ACC may suggest the difficulty in meeting the linguistic and social demands of this task in ASD. Overall, this study provides new evidence of the altered recruitment of the neural networks underlying language and social cognition in ASD.
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5. Mazurek MO, Lu F, Symecko H, Butter E, Bing NM, Hundley RJ, Poulsen M, Kanne SM, Macklin EA, Handen BL. {{A Prospective Study of the Concordance of DSM-IV and DSM-5 Diagnostic Criteria for Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
The transition from DSM-IV to DSM-5 criteria for autism spectrum disorder (ASD) sparked considerable concern about the potential implications of these changes. This study was designed to address limitations of prior studies by prospectively examining the concordance of DSM-IV and final DSM-5 criteria on a consecutive sample of 439 children referred for autism diagnostic evaluations. Concordance and discordance were assessed using a consistent diagnostic battery. DSM-5 criteria demonstrated excellent overall specificity and good sensitivity relative to DSM-IV criteria. Sensitivity and specificity were strongest for children meeting DSM-IV criteria for autistic disorder, but poor for those meeting criteria for Asperger’s disorder and pervasive developmental disorder. Higher IQ, older age, female sex, and less pronounced ASD symptoms were associated with greater discordance.
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6. Takahashi T, Yamanishi T, Nobukawa S, Kasakawa S, Yoshimura Y, Hiraishi H, Hasegawa C, Ikeda T, Hirosawa T, Munesue T, Higashida H, Minabe Y, Kikuchi M. {{Band-specific atypical functional connectivity pattern in childhood autism spectrum disorder}}. {Clin Neurophysiol}. 2017; 128(8): 1457-65.
OBJECTIVE: Altered brain connectivity has been theorized as a key neural underpinning of autism spectrum disorder (ASD), but recent investigations have revealed conflicting patterns of connectivity, particularly hyper-connectivity and hypo-connectivity across age groups. The application of graph theory to neuroimaging data has become an effective approach for characterizing topographical patterns of large-scale functional networks. We used a graph approach to investigate alteration of functional networks in childhood ASD. METHOD: Magnetoencephalographic signals were quantified using graph-theoretic metrics with a phase lag index (PLI) for specific bands in 24 children with autism spectrum disorder and 24 typically developing controls. RESULTS: No significant group difference of PLI was found. Regarding topological organization, enhanced and reduced small-worldness, representing the efficiency of information processing, were observed respectively in ASD children, particularly in the gamma band and delta band. CONCLUSIONS: Analyses revealed frequency-dependent atypical neural network topologies in ASD children. SIGNIFICANCE: Our findings underscore the recently proposed atypical neural network theory of ASD during childhood. Graph theory with PLI applied to magnetoencephalographic signals might be a useful approach for characterizing the frequency-specific neurophysiological bases of ASD.
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7. Xu X, Pozzo-Miller L. {{EEA1 restores homeostatic synaptic plasticity in hippocampal neurons from Rett syndrome mice}}. {J Physiol}. 2017.
Rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in MECP2, the gene encoding the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2). Deletion of Mecp2 in mice results in an imbalance of synaptic excitation and inhibition in hippocampal pyramidal neurons, which affects « Hebbian » long-term synaptic plasticity. Since the excitatory/inhibitory (E/I) balance is maintained by homeostatic mechanisms, we examined the role of MeCP2 in homeostatic synaptic plasticity (HSP) at excitatory synapses. Negative feedback HSP, also known as synaptic scaling, maintains the global synaptic strength of individual neurons in response to sustained alterations in neuronal activity. Hippocampal neurons from Mecp2 knockout (KO) mice do not show the characteristic homeostatic scaling-up of the amplitude of miniature excitatory postsynaptic currents (mEPSC) and of synaptic levels of GluA1 after 48-hour silencing with the Na+ channel blocker tetrodotoxin (TTX). This deficit in HSP is bidirectional because Mecp2 KO neurons also failed to scale-down mEPSC amplitudes and GluA1 synaptic levels after 48 h blockade of GABAA R-mediated inhibition with bicuculline. Consistent with the role of synaptic trafficking of AMPA-type of glutamate receptors (AMPAR) in HSP, Mecp2 KO neurons have lower levels of early-endosome-antigen-1 (EEA1), a protein involved in AMPAR endocytosis. In addition, expression EEA1 in Mecp2 KO neurons reduced mEPSC amplitudes to WT levels, and restored synaptic scaling-down of mEPSC amplitudes after 48 h blockade of GABAA R-mediated inhibition with bicuculline. The identification of a molecular deficit in HSP in Mecp2 KO neurons provides potentially novel targets of intervention for improving hippocampal function in RTT individuals. This article is protected by copyright. All rights reserved.
