1. Benvenuto A, Battan B, Benassi F, Gialloreti LE, Curatolo P. {{Effectiveness of community-based treatment on clinical outcome in children with autism spectrum disorders: An Italian prospective study}}. {Developmental neurorehabilitation}. 2014 Jan 6.
Abstract Objective: Little is known about outcomes of Autism Spectrum Disorders (ASDs) interventions in real-life settings. The main aim of this naturalistic study was to collect real-life data on the actual ASDs treatment practices in Italy. Methods: A cohort of 48 children undergoing community-based interventions was observed in terms of personal and environmental characteristics, treatment typology and outcomes. Results: An earlier start of treatment was associated with an improvement of autistic symptoms, independently from symptoms severity (p < 0.05), but not with improvements in terms of intelligence quotient (p = 0.8). Children belonging to lower socioeconomic status families began treatment later (48.0 months) than those belonging to middle (39.8 months) or upper (39.2 months) classes (p < 0.05), and received less hours of treatment. Conclusion: The study showed that ASDs interventions should be observed not only in experimental settings, but also in naturalistic environments, so to appraise the actual effectiveness of integrating different treatment methods in community settings.
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2. Chevallier C, Parish-Morris J, Tonge N, Le L, Miller J, Schultz RT. {{Susceptibility to the Audience Effect Explains Performance Gap Between Children With and Without Autism in a Theory of Mind Task}}. {Journal of experimental psychology General}. 2014 Jan 6.
Diminished social motivation constitutes one of the core impairments of autism spectrum disorder (ASD) and is thought to have a strong impact on the way individuals with autism respond to the presence of others. In this study, we hypothesized that experimental contexts involving direct interaction with an experimenter might elicit different reactions in children with ASD and thus act as a potential confound in the interpretation of group differences during social cognitive tests. Following classic work in social psychology on the audience effect-wherein individuals act differently when they are being watched in a more or less conscious attempt to enhance their reputation in the eyes of others-we reasoned that social contexts are indeed likely to produce an increase in performance in typically developing (TD) individuals but that children with ASD would be less susceptible to such audience effects. More specifically, we were interested in testing the idea that susceptibility to the audience effect might explain part of the performance gap between children with autism (ASDs) and children without autism in theory of mind (ToM) tasks, which are typically administered by a human experimenter. We tested this hypothesis by comparing performance on a ToM task administered in a social versus a nonsocial setting. We found that ASDs and controls performed similarly when the task was administered using a nonsocial medium. However, control participants outperformed ASDs when an experimenter administered the task. Thus, TD controls demonstrated a relative improvement in performance when in the presence of an experimenter that children with ASD did not. The implications of this diminished audience effect in ASD are discussed. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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3. Couper L, van der Meer L, Schafer MC, McKenzie E, McLay L, O’Reilly MF, Lancioni GE, Marschik PB, Sigafoos J, Sutherland D. {{Comparing acquisition of and preference for manual signs, picture exchange, and speech-generating devices in nine children with autism spectrum disorder}}. {Developmental neurorehabilitation}. 2014 Jan 6.
Abstract Objective: To compare how quickly children with autism spectrum disorder (ASD) acquired manual signs, picture exchange, and an iPad(R)/iPod(R)-based speech-generating device (SGD) and to compare if children showed a preference for one of these options. Method: Nine children with ASD and limited communication skills received intervention to teach requesting preferred stimuli using manual signs, picture exchange, and a SGD. Intervention was evaluated in a non-concurrent multiple-baseline across participants and alternating treatments design. Results: Five children learned all three systems to criterion. Four children required fewer sessions to learn the SGD compared to manual signs and picture exchange. Eight children demonstrated a preference for the SGD. Conclusion: The results support previous studies that demonstrate children with ASD can learn manual signs, picture exchange, and an iPad(R)/iPod(R)-based SGD to request preferred stimuli. Most children showed a preference for the SGD. For some children, acquisition may be quicker when learning a preferred option.
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4. Rudolph U, Mohler H. {{GABAA Receptor Subtypes: Therapeutic Potential in Down Syndrome, Affective Disorders, Schizophrenia, and Autism}}. {Annual review of pharmacology and toxicology}. 2014 Jan 6;54:483-507.
The gamma-aminobutyric acid (GABA) system plays a pivotal role in orchestrating the synchronicity of local networks and the functional coupling of different brain regions. Here we review the impact of the GABAA receptor subtypes on cognitive and emotional behavior, paying particular attention to five disease states: cognitive dysfunction and Down syndrome, anxiety disorders, depression, schizophrenia, and autism. Through the bidirectional modulation of tonic inhibition, alpha5-subunit-containing GABAA receptors permit the bidirectional modulation of cognitive processes, and a partial inverse agonist acting at the alpha5-subunit-containing GABAA receptor is in a clinical trial in individuals with Down syndrome. With regard to anxiety disorders, the viability of nonsedative anxiolytics based on the modulation of alpha2- and alpha3-subunit-containing GABAA receptors has been established in clinical proof-of-concept trials. Regarding the remaining three disease states, the GABA hypothesis of depression offers new options for antidepressant drug development; cognitive symptoms in schizophrenia are attributed to a cortical GABAergic deficit, and dysfunctional GABAergic inhibition is increasingly understood to contribute to the pathophysiology of autism spectrum disorders.
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5. Tan XY, Trembath D, Bloomberg K, Iacono T, Caithness T. {{Acquisition and generalization of key word signing by three children with autism}}. {Developmental neurorehabilitation}. 2014 Jan 6.
Abstract Objective: The aim of this study was to examine the effect of Key Word Sign (KWS) intervention on the acquisition and generalization of manual signing among three children with Autism Spectrum Disorder (ASD), and to measure any changes in their production of spoken words and gestures following intervention. Methods: A multiple baseline single-case experimental design was used to measure changes for each of the three children. Results: All three children began using signs following the introduction of the KWS intervention, and generalized their use of some signs across activities. The introduction of the intervention was associated with either neutral, or statistically significantly positive, changes in the children’s production of spoken words and natural gestures. Conclusion: The results provide preliminary evidence for the effectiveness of KWS for preschool children with ASD, which parents, therapists, and educators can use to inform clinical practice.
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6. Tassone F. {{Newborn Screening for Fragile X Syndrome}}. {JAMA neurology}. 2014 Jan 6.
Fragile X syndrome (FXS), caused by a trinucleotide expansion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not included in newborn screening (NBS) panels in the United States as it does not meet the standards for recommendation. Although in the past few years FXS has met many of the criteria for population screening and studies have shown that NBS for FXS is feasible, the idea is still controversial and the debate is open. The recent advances in genomic testing as well as groundbreaking advances in targeted treatment for FXS have been challenging the dogma and principle of the national NBS program: screen only if you can intervene. Arguments in favor of NBS include benefits of early intervention and follow-up for the identified baby, which would justify NBS even in the absence of medical benefit to the child. In addition, the extended family members may benefit from genetic and reproductive counseling, informed decision making before a subsequent pregnancy, and access to treatment and services. However, communicating the results and the potential consequences to families is a challenge and could lead to a heavy psychosocial burden. A controversial issue is the identification of premutation carriers (55-200 CGG repeats), because it not only can lead to information on the reproductive possibility of having a child with FXS but also leads to information about personal health risks associated with the premutation. Yet, knowledge of carrier status could stimulate and encourage lifestyle changes and preventive measures likely to reduce the risk of medical problems reported in premutation carriers. If NBS for FXS is developed, it must be carried out with clear awareness of the potential impact on the lives of the children, and it should be done after counseling and parents’ informed consent. Importantly, the infrastructure to support testing, counseling, treatment, and follow-up will have to be made available to the families.
