1. Brecevic L, Rincic M, Krsnik Z, Sedmak G, Hamid AB, Kosyakova N, Galic I, Liehr T, Borovecki F. {{Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma}}. {Transl Neurosci};2015;6(1):59-86.
We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic features, and hyperactivity with elements of autism spectrum disorder (ASD). Several important neurodevelopmental genes are affected by the 3.56 Mb copy number gain of 1p21.3p21.2, which may be considered reciprocal in gene content to the recently recognized 1p21.3 microdeletion syndrome. Both 1p21.3 deletions and the presented duplication display overlapping symptoms, fitting the same disorder category. Contribution of coding and non-coding genes to the phenotype is discussed in the light of cellular and intercellular homeostasis disequilibrium. In line with this the presented 1p21.3p21.2 copy number gain correlated to 1p21.3 microdeletion syndrome verifies the hypothesis of a cumulative effect of the number of deregulated genes – homeostasis disequilibrium leading to overlapping phenotypes between microdeletion and microduplication syndromes. Although miR-137 appears to be the major player in the 1p21.3p21.2 region, deregulation of the DPYD (dihydropyrimidine dehydrogenase) gene may potentially affect neighboring genes underlying the overlapping symptoms present in both the copy number loss and copy number gain of 1p21. Namely, the all-in approach revealed that DPYD is a complex gene whose expression is epigenetically regulated by long non-coding RNAs (lncRNAs) within the locus. Furthermore, the long interspersed nuclear element-1 (LINE-1) L1MC1 transposon inserted in DPYD intronic transcript 1 (DPYD-IT1) lncRNA with its parasites, TcMAR-Tigger5b and pair of Alu repeats appears to be the « weakest link » within the DPYD gene liable to break. Identification of the precise mechanism through which DPYD is epigenetically regulated, and underlying reasons why exactly the break (FRA1E) happens, will consequently pave the way toward preventing severe toxicity to the antineoplastic drug 5-fluorouracil (5-FU) and development of the causative therapy for the dihydropyrimidine dehydrogenase deficiency.
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2. Brown HK, Hussain-Shamsy N, Lunsky Y, Dennis CE, Vigod SN. {{The Association Between Antenatal Exposure to Selective Serotonin Reuptake Inhibitors and Autism: A Systematic Review and Meta-Analysis}}. {J Clin Psychiatry};2017 (Jan);78(1):e48-e58.
OBJECTIVE: This systematic review and meta-analysis examines the relationship between antenatal selective serotonin reuptake inhibitor (SSRI) exposure and child autism, with specific attention to maternal mental illness (MMI) as a potential confounding factor. DATA SOURCES: We searched MEDLINE, Embase, PsycINFO, and CINAHL from database inception to January 28, 2016. STUDY SELECTION: Keywords included terms for SSRIs, pregnancy, and autism. We included published, peer-reviewed articles written in English. DATA EXTRACTION: Two reviewers used standardized instruments for data extraction and quality assessment. We generated pooled estimates for studies of the same design for SSRI exposure at any time during pregnancy and exposure during the first trimester. Subanalyses were conducted among studies with analyses (1) adjusted for MMI and (2) restricted to MMI. RESULTS: We included in the meta-analysis 4 case-control studies and 2 cohort studies. In the case-control studies, the adjusted pooled odds ratio (aPOR) values were 1.4 (95% CI, 1.0-2.0) (any) and 1.7 (95% CI, 1.1-2.6) (first trimester). In MMI-adjusted analyses, only first trimester exposure remained statistically significant (aPOR = 1.8; 95% CI, 1.1-3.1). In MMI-restricted analyses, neither exposure period was statistically significant. In the cohort studies, MMI-adjusted relative risk values were 1.5 (95% CI, 0.9-2.7) (any) and 1.4 (95% CI, 1.0-1.9) (first trimester). In MMI-restricted analyses, SSRI exposure at any time during pregnancy was nonsignificant. CONCLUSIONS: It remains unclear whether the association between first trimester SSRI exposure and child autism that was present in the case-control studies even after adjustment for MMI is a true association or a product of residual confounding. Future studies require robust measurement of MMI prior to and during pregnancy.
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3. de Hemptinne Q, Horlick EM, Osten MD, Millan X, Tadros VX, Pighi M, Gonzalez Barlatey F, Alnasser SM, Miro J, Asgar AW, Ibrahim R. {{Initial clinical experience with the GORE(R) CARDIOFORM ASD occluder for transcatheter atrial septal defect closure}}. {Catheter Cardiovasc Interv};2017 (Jan 27)
OBJECTIVES: To report the initial clinical experience with a novel atrial septal defect (ASD) closure device, the GORE(R) CARDIOFORM ASD Occluder (GCO). BACKGROUND: Transcatheter closure has become the treatment of choice for secundum ASD. A wide range of occluder devices are available, but concern has been raised about the risk of cardiac erosion associated with rigid devices and future access to the left atrium METHODS: Retrospective chart review of patients treated with the GCO at three Canadian centers. Primary outcomes were procedural success and residual shunting at follow-up, as well as 30-day major adverse events. Secondary outcomes included new onset atrial arrhythmias, wire frame fractures (WFF), and all cause mortality. Clinical, echocardiographic, procedural data, and follow-up outcome variables were collected in each participating hospital. RESULTS: Between February and December 2015, 26 patients (5 children and 21 adults) underwent transcatheter ASD closure with the GCO and were included in the study cohort. Procedural success was achieved in 22 of 26 patients (85%) and no major procedural complications were observed. Two patients (8%) presented new onset atrial tachyarrhythmia during early follow-up (0-30 days). Follow-up echocardiography (median of 119 days [IQR: 92-146]) demonstrated no residual shunt in all implanted patients. After a median clinical follow-up of 174 days (IQR: 135-239), one patient died of an unrelated cause, there were no documented major adverse cardiovascular events. Fluoroscopic imaging of the device was performed in 20 patients (91%), and WFF was noted in five cases. No clinical consequence or device dysfunction was observed in these patients. CONCLUSIONS: In this first-in-man multicenter study, the GCO was safe and effective for ASD closure, with no major adverse events or residual shunt at follow-up. (c) 2017 Wiley Periodicals, Inc.
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4. Dixon MR, Peach J, Daar JH, Penrod C. {{Teaching complex verbal operants to children with autism and establishing generalization using the peak curriculum}}. {J Appl Behav Anal};2017 (Jan 27)
The present study evaluated the feasibility of the PEAK Relational Training System’s Generalization Module (Dixon, 2014b) to teach and establish generalization of autoclitic mands, distorted tacts, and creative path finding in three children diagnosed with autism spectrum disorder. Using a multiple-baseline design across behaviors, each participant was provided with differential reinforcement and a least-to-most prompting hierarchy for correct responses to a subset of stimuli, and responses to other similar stimulus sets were probed for emergent generalization. Following training, each participant successfully acquired the directly trained behaviors and demonstrated generalization to the nonreinforced test exemplars. These data support the utility of Skinner’s (1957) analysis to teach complex forms of verbal operants, and suggest that a manualized curriculum such as PEAK may have utility for promoting skill development and generalization for front line staff and caregivers of children with autism.
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5. Gernsbacher MA, Morson EM, Grace EJ. {{Language and Speech in Autism}}. {Annu Rev Linguist};2016 (Jan);2:413-425.
Autism is a developmental disability characterized by atypical social interaction, interests or body movements, and communication. Our review examines the empirical status of three communication phenomena believed to be unique to autism: pronoun reversal (using the pronoun you when the pronoun I is intended, and vice versa), echolalia (repeating what someone has said), and a reduced or even reversed production-comprehension lag (a reduction or reversal of the well-established finding that speakers produce less sophisticated language than they can comprehend). Each of these three phenomena has been claimed to be unique to autism; therefore, each has been proposed to be diagnostic of autism, and each has been interpreted in autism-centric ways (psychoanalytic interpretations of pronoun reversal, behaviorist interpretations of echolalia, and clinical lore about the production-comprehension lag). However, as our review demonstrates, none of these three phenomena is in fact unique to autism; none can or should serve as diagnostic of autism, and all call into question unwarranted assumptions about autistic persons and their language development and use.
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6. Hollander E, Uzunova G. {{Are there new advances in the pharmacotherapy of autism spectrum disorders?}}. {World Psychiatry};2017 (Feb);16(1):101-102.
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7. Luque Salas B, Yanez Rodriguez V, Tabernero Urbieta C, Cuadrado E. {{The role of coping strategies and self-efficacy as predictors of life satisfaction in a sample of parents of children with autism spectrum disorder}}. {Psicothema};2017 (Feb);29(1):55-60.
BACKGROUND: This research aims to understand the role of coping strategies and self-efficacy expectations as predictors of life satisfaction in a sample of parents of boys and girls diagnosed with autistic spectrum disorder. METHODS: A total of 129 parents (64 men and 65 women) answered a questionnaire on life-satisfaction, coping strategies and self-efficacy scales. RESULTS: Using a regression model, results show that the age of the child is associated with a lower level of satisfaction in parents. The results show that self-efficacy is the variable that best explains the level of satisfaction in mothers, while the use of problem solving explains a higher level of satisfaction in fathers. Men and women show similar levels of life satisfaction; however significant differences were found in coping strategies where women demonstrated higher expressing emotions and social support strategies than men. Conclusions: The development of functional coping strategies and of a high level of self-efficacy represents a key tool for adapting to caring for children with autism. Our results indicated the necessity of early intervention with parents to promote coping strategies, self-efficacy and high level of life satisfaction.
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8. Ozyilmaz B, Kirbiyik O, Koc A, Ozdemir TR, Ozer Kaya O, Saka Guvenc M, Erdogan KM, Kutbay YB. {{Experiences in Microarray-based Evaluation of Developmental Disabilities and Congenital Anomalies}}. {Clin Genet};2017 (Jan 27)
Chromosomal microarray analysis is the as first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. Among 971 patient samples, 133 (13,6%) had pathogenic variants. While analyzing, an « in-house » variant database was also used besides other databases. Owing to this, we have found chance to report the most frequent benign variants in Turkish population. With the additional data we acqured in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations.
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9. Tucker D. {{Books: Fingers in the Sparkle Jar: A Memoir: Through the Autistic Lens}}. {Br J Gen Pract};2017 (Feb);67(655):80.
