1. Bennett AE, Miller JS, Stollon N, Prasad R, Blum NJ. {{Autism Spectrum Disorder and Transition-Aged Youth}}. {Current psychiatry reports}. 2018; 20(11): 103.
PURPOSE OF REVIEW: This article discusses common issues surrounding transition to adulthood in youth with autism spectrum disorder (ASD). We review recent evidence on co-occurring medical and mental health conditions and topics of education and employment, sexuality and relationships, independent living, and financial support. RECENT FINDINGS: Transitioning individuals with ASD have increased risk for several medical and behavioral health comorbidities and should be routinely screened for co-occurring conditions. Evidence on interventions for mental health disorders is limited but emerging, particularly with respect to mindfulness training and cognitive behavioral therapy. Many autistic adults or their families express a desire for independent living, participation in education/employment, and intimacy and social relationships, but they often lack skills and/or resources to successfully achieve these outcomes. The time of transition to adulthood for adolescents with ASD is an opportunity for physicians to provide anticipatory guidance and necessary supports around issues of community participation. To allow time for planning, these discussions should occur well before the child reaches adulthood. Clinicians should also routinely screen for and address medical and/or behavioral health comorbidities.
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2. Brown EA, Lautz JD, Davis TR, Gniffke EP, VanSchoiack AAW, Neier SC, Tashbook N, Nicolini C, Fahnestock M, Schrum AG, Smith SEP. {{Clustering the autisms using glutamate synapse protein interaction networks from cortical and hippocampal tissue of seven mouse models}}. {Molecular autism}. 2018; 9: 48.
Background: Autism spectrum disorders (ASDs) are a heterogeneous group of behaviorally defined disorders and are associated with hundreds of rare genetic mutations and several environmental risk factors. Mouse models of specific risk factors have been successful in identifying molecular mechanisms associated with a given factor. However, comparisons among different models to elucidate underlying common pathways or to define clusters of biologically relevant disease subtypes have been complicated by different methodological approaches or different brain regions examined by the labs that developed each model. Here, we use a novel proteomic technique, quantitative multiplex co-immunoprecipitation or QMI, to make a series of identical measurements of a synaptic protein interaction network in seven different animal models. We aim to identify molecular disruptions that are common to multiple models. Methods: QMI was performed on 92 hippocampal and cortical samples taken from seven mouse models of ASD: Shank3B, Shank3Deltaex4-9, Ube3a(2xTG), TSC2, FMR1, and CNTNAP2 mutants, as well as E12.5 VPA (maternal valproic acid injection on day 12.5 post-conception). The QMI panel targeted a network of 16 interacting, ASD-linked, synaptic proteins, probing 240 potential co-associations. A custom non-parametric statistical test was used to call significant differences between ASD models and littermate controls, and Hierarchical Clustering by Principal Components was used to cluster the models using mean log2 fold change values. Results: Each model displayed a unique set of disrupted interactions, but some interactions were disrupted in multiple models. These tended to be interactions that are known to change with synaptic activity. Clustering revealed potential relationships among models and suggested deficits in AKT signaling in Ube3a(2xTG) mice, which were confirmed by phospho-western blots. Conclusions: These data highlight the great heterogeneity among models, but suggest that high-dimensional measures of a synaptic protein network may allow differentiation of subtypes of ASD with shared molecular pathology.
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3. Caldwell KJ, Creedon JK, Miller AF. {{Child With Autism and a Limp}}. {Annals of emergency medicine}. 2018; 72(4): 493-5.
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4. Chapin S, McNaughton D, Boyle S, Babb S. {{Effects of Peer Support Interventions on the Communication of Preschoolers with Autism Spectrum Disorder: A Systematic Review}}. {Seminars in speech and language}. 2018.
Many young children with autism spectrum disorders (ASDs) experience difficulty in the development of communication skills. Teaching peers to make use of communication support behaviors has been investigated as a strategy to increase communication for young children with ASD in early childhood settings. The purpose of this systematic review was to examine (1) the overall effects of peer support interventions on the communication of young children with ASD and (2) any possible moderating variables related to participant and intervention characteristics. The social support model was used as a framework for the study of intervention components. Eighteen single-case experimental design studies (48 children with ASD) met the inclusion criteria and were advanced to the full coding and analysis phase of the investigation. Descriptive analyses and effect size estimations using the improvement rate difference (IRD) metric were conducted. Overall, peer support interventions were found to be effective across a range of young children with ASD and intervention approaches. Evidence was also identified for the use of the social support model as a framework to guide the development of peer interventions in early childhood settings. The use of friendship groups, the selection of play materials based on the interests of the child with ASD, and the provision of augmentative and alternative communication appeared to be associated with positive communication outcomes.
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5. Cregenzan-Royo O, Brun-Gasca C, Fornieles-Deu A. {{Expressed emotion and impulsiveness in mothers of children with Fragile X Syndrome and Down Syndrome: The relation to behavioral problems in their offspring}}. {Research in developmental disabilities}. 2018; 83: 179-89.
BACKGROUND: Fragile X Syndrome (FXS) and Down Syndrome (DS) are common causes of Intellectual Disability (ID). Mothers of individuals with FXS sometimes have the premutation condition which makes them display neurocognitive signs, such as impulsiveness impairments, while mothers of DS individuals, as a group, do not have impairments. Although behavior problems in individuals with ID may be related to high Expressed Emotion (EE) in parents, parenting in families with ID members has been little explored. AIM: To explore the relationship between a mother’s EE and impulsiveness, in mothers of individuals with FXS and DS, with behavior problems in their offspring. METHOD: A questionnaire was developed to collect data about impulsiveness and EE in mothers, along with information about behavior problems in ID individuals. RESULTS: EE scores were associated with behavior problems in their offspring for both samples. Mothers with the premutation showed higher scores in EE than mothers of DS individuals. However, impulsiveness scores were not different between both parental groups, and were related to EE scores. CONCLUSIONS: EE is a parental feature that is possible to modulate and seems to be related to behavior problems in ID individuals. More research should be carried on to create interventions to reduce this attitude in parents of ID individuals.
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6. Koehler L, Fournel A, Albertowski K, Roessner V, Gerber J, Hummel C, Hummel T, Bensafi M. {{Impaired Odor Perception in Autism Spectrum Disorder Is Associated with Decreased Activity in Olfactory Cortex}}. {Chemical senses}. 2018; 43(8): 627-34.
Autism Spectrum Disorders (ASDs) are characterized by atypical sensory functioning in the visual, tactile, and auditory systems. Although less explored, olfactory changes have been reported in ASD patients. To explore these changes on a neural level, 18 adults with ASD and 18 healthy neurotypical controls were examined in a 2-phase study. Participants were first tested for odor threshold and odor identification. Then, (i) structural magnetic resonance (MR) images of the olfactory bulb were acquired, and (ii) a functional MR imaging olfaction study was conducted. ASD patients exhibited decreased function for odor thresholds and odor identification; this was accompanied by a relatively decreased activation in the piriform cortex. In conclusion, these findings suggest, that the known alterations in olfaction in ASD are rooted in the primary olfactory cortex.
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7. Lundin A, Kosidou K, Dalman C. {{Measuring Autism Traits in the Adult General Population with the Brief Autism-Spectrum Quotient, AQ-10: Findings from the Stockholm Public Health Cohort}}. {Journal of autism and developmental disorders}. 2018.
BACKGROUND: The autism-spectrum quotient scale was developed to study autism as a spectrum. Few studies have examined the psychometric properties of the 10 item AQ (AQ-10). We examine the AQ-10 measurement ability and convergent validity in a population health survey (n = 44,722). METHODS: The item severity and item discrimination was assessed using item response theory. Convergent validity was assessed by regressing on ADHD, psychological distress (PD) and having an education in the sciences. RESULTS: Whilst unidimensional, the AQ-10 had some poorly fitting items. Item discrimination ranged from very low to very high. The scale correlated as hypothesised with the regress expected when factoring in ADHD, PD and possessing an eduction in the sciences. CONCLUSION: The AQ-10 has adequate validity in the present sample and may be used in s as a measure of autistic traits. In Conclusion, The AQ-10 has adequate validity to be used in health surveys as a measure of autistic traits, although some items may perform poorly.
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8. Notter T, Aengenheister L, Weber-Stadlbauer U, Naegeli H, Wick P, Meyer U, Buerki-Thurnherr T. {{Prenatal exposure to TiO2 nanoparticles in mice causes behavioral deficits with relevance to autism spectrum disorder and beyond}}. {Translational psychiatry}. 2018; 8(1): 193.
Environmental factors are involved in the etiology of autism spectrum disorder (ASD) and may contribute to the raise in its incidence rate. It is currently unknown whether the increasing use of nanoparticles such as titanium dioxide (TiO2 NPs) in consumer products and biomedical applications may play a role in these associations. While nano-sized TiO2 is generally regarded as safe and non-toxic, excessive exposure to TiO2 NPs may be associated with negative health consequences especially when occurring during sensitive developmental periods. To test if prenatal exposure to TiO2 NPs alters fetal development and behavioral functions relevant to ASD, C57Bl6/N dams were subjected to a single intravenous injection of a low (100 microg) or high (1000 microg) dose of TiO2 NPs or vehicle solution on gestation day 9. ASD-related behavioral functions were assessed in the offspring using paradigms that index murine versions of ASD symptoms. Maternal exposure to TiO2 NPs led to subtle and dose-dependent impairments in neonatal vocal communication and juvenile sociability, as well as a dose-dependent increase in prepulse inhibition of the acoustic startle reflex of both sexes. These behavioral alterations emerged in the absence of pregnancy complications. Prenatal exposure to TiO2 NPs did not cause overt fetal malformations or changes in pregnancy outcomes, nor did it affect postnatal growth of the offspring. Taken together, our study provides a first set of preliminary data suggesting that prenatal exposure to nano-sized TiO2 can induce behavioral deficits relevant to ASD and related neurodevelopmental disorders without inducing major changes in physiological development. If extended further, our preclinical findings may provide an incentive for epidemiological studies examining the role of prenatal TiO2 NPs exposure in the etiology of ASD and other neurodevelopmental disorders.
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9. Parvin S, Takeda R, Sugiura Y, Neyazaki M, Nogi T, Sasaki Y. {{Fragile X mental retardation protein regulates accumulation of the active zone protein Munc18-1 in presynapses via local translation in axons during synaptogenesis}}. {Neuroscience research}. 2018.
Fragile X mental retardation protein (FMRP), a causative gene (FMR1) product of Fragile X syndrome (FXS), is an RNA-binding protein to regulate local protein synthesis in dendrites for postsynaptic functions. However, involvement of FMRP in local protein synthesis in axons for presynaptic functions remains unclear. Here we investigated role of FMRP in local translation of the active zone protein Munc18-1 during presynapse formation. We found that leucine-rich repeat transmembrane neuronal 2 (LRRTM2)-conjugated beads, which promotes synchronized presynapse formation, induced simultaneous accumulation of FMRP and Munc18-1 in presynapses of axons of mouse cortical neurons in neuronal cell aggregate culture. The LRRTM2-induced accumulation of Munc18-1 in presynapses was observed in axons protein-synthesis-dependently, even physically separated from cell bodies. The accumulation of Munc18-1 was enhanced in Fmr1-knockout (KO) axons as compared to wild type (WT), suggesting FMRP-regulated suppression for local translation of Munc18-1 in axons during presynapse formation. Using naturally formed synapses of dissociated culture, structured illumination microscope revealed that Munc18-1 puncta in Fmr1-KO neurons increased significantly at 19 days in vitro, as compared to WT. Our findings lead the possibility that excessive accumulation of Munc18-1 in presynapses at early stage of synaptic development in Fmr1-KO neurons may have a critical role in impaired presynaptic functions in FXS.
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10. Rubenstein E, Young JC, Croen LA, DiGuiseppi C, Dowling NF, Lee LC, Schieve L, Wiggins LD, Daniels J. {{Correction to: Brief Report: Maternal Opioid Prescription from Preconception Through Pregnancy and the Odds of Autism Spectrum Disorder and Autism Features in Children}}. {Journal of autism and developmental disorders}. 2018.
The original version of this article unfortunately contained a mistake in Table 2. The « Time of use » should be the column header with the corresponding row with « N = 126 » belonging to the « Peri-pregnancy » row. The « Preconception » row should be the row with « N = 17 », « Trimester 1 » should be the « N = 29 » row, « Trimester 2 » should be the « N = 25 » row, and « Trimester 3 » should be the « N = 47 » row.
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11. Tillmann J, Swettenham J. {{Contrasting the Effects of Task Difficulty and Perceptual Load on Auditory Detection Sensitivity in Individuals with Autism}}. {Journal of autism and developmental disorders}. 2018.
To test a central assumption of the increased perceptual capacity account in individuals with Autism Spectrum Disorder (ASD), the effects of perceptual load and target-stimulus degradation on auditory detection sensitivity were contrasted. Fourteen adolescents with ASD and 16 neurotypical controls performed a visual letter search task under three conditions: low perceptual load, high perceptual load and low perceptual load with a degraded target while simultaneously detecting an auditory tone in noise. For both participants with ASD and neurotypical controls, increasing perceptual load and target degradation increased task difficulty as indexed by reaction times and accuracy. However, only increasing perceptual load reduced subsequent auditory detection sensitivity. The study confirms that perceptual load, and not task difficulty, modulates selective attention in ASD.
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12. Vivanti G, Stahmer A. {{Early intervention for autism: Are we prioritizing feasibility at the expenses of effectiveness? A cautionary note}}. {Autism : the international journal of research and practice}. 2018: 1362361318803043.
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13. Wu HF, Chen YJ, Chu MC, Hsu YT, Lu TY, Chen IT, Chen PS, Lin HC. {{Deep Brain Stimulation Modified Autism-Like Deficits via the Serotonin System in a Valproic Acid-Induced Rat Model}}. {International journal of molecular sciences}. 2018; 19(9).
Deep brain stimulation (DBS) is known to be a promising treatment for resistant depression, which acts via the serotonin (5-hydroxytryptamine, 5-HT) system in the infralimbic prefrontal cortex (ILPFC). Previous study revealed that dysfunction of brain 5-HT homeostasis is related to a valproate (VPA)-induced rat autism spectrum disorder (ASD) model. Whether ILPFC DBS rescues deficits in VPA-induced offspring through the 5-HT system is not known. Using VPA-induced offspring, we therefore explored the effect of DBS in autistic phenotypes and further investigated the underlying mechanism. Using combined behavioral and molecular approaches, we observed that applying DBS and 5-HT1A receptor agonist treatment with 8-hydroxy-2-(di-n-propylamino)tetralin (8-OH-DPAT) reversed sociability deficits, anxiety and hyperactivity in the VPA-exposed offspring. We then administered the selective 5-HT1A receptor antagonist N-[2-[4-(2-Methoxyphenyl)-1-piperazinyl]ethyl]-N-2-pyridinylcyclohexanecarboxamid e maleate (WAY 100635), following which the effect of DBS in terms of improving autistic behaviors was blocked in the VPA-exposed offspring. Furthermore, we found that both 8-OH-DPAT and DBS treatment rescued autistic behaviors by decreasing the expressions of NR2B subunit of N-methyl-D-aspartate receptors (NMDARs) and the beta(3) subunit of gamma-aminobutyric acid type A receptors (GABAAR) in the PFC region. These results provided the first evidence of characteristic behavioral changes in VPA-induced offspring caused by DBS via the 5-HT system in the ILPFC.
