1. Bitsika V, Sharpley CF, Sweeney JA, Andronicos NM, Agnew LL, Arnold WM. {{A comparison of age, cognitive, hormonal, symptomatic and mood correlates of Aggression towards Others in boys with ASD}}. {Res Dev Disabil};2017 (Mar 06)
BACKGROUND: Aggression is a major problem in children with Autism Spectrum Disorder (ASD) but little is known about the possible contributors to this behaviour. AIMS: To determine the relative strength of the relationships between developmental, cognitive, symptomatic, hormonal and mood factors and ‘Aggression towards Others’ in boys with ASD. METHOD: Predictors of Aggression towards Others were investigated in a sample of 136 boys with Autism Spectrum Disorder (M age=11.3yr, SD=3.2yr, range=6yr to 17yr). Data were collected from the boys themselves and their parents (14 fathers, 122 mothers). RESULTS: Results indicated that age and Low Registration on the Sensory Profile were the only significant correlates of this form of aggression. Importantly, testosterone levels did not account for level of social aggression. CONCLUSIONS: These data suggest that these boys may have learnt more effective methods of dealing with their frustration as they grew older or benefitted from cognitive maturation, and that having a high neurological threshold may be a source of frustration for these boys. The relationship between Aggression towards Others and Low Registration is discussed and clinical implications of the findings explicated.
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2. Costa AP, Steffgen G, Samson AC. {{Expressive Incoherence and Alexithymia in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 06)
Expressive incoherence can be implicated in socio-emotional communicative problems in autism spectrum disorder (ASD). The present study examined expressive incoherence in 37 children with ASD and 41 typically developing (TD) children aged 3-13 years old during a frustration task. The role of alexithymia in expressive incoherence was also assessed. Compared to TD children, children with ASD had higher expressive incoherence, such as more neutral and positive emotion expressions during negative behaviors, but not in the expression of negative emotions during positive behaviors. Further analyses revealed that alexithymia moderated the expressions of positive emotions during negative behaviors. These results suggest that children with ASD may benefit from interventions targeting alexithymia to increase emotional coherence, which may improve socio-emotional communication.
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3. Fluegge K. {{Brain-Derived Neurotrophic Factor in Autism Spectrum Disorder}}. {JAMA Pediatr};2017 (Mar 06)
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4. Freeman LM, Locke J, Rotheram-Fuller E, Mandell D. {{Brief Report: Examining Executive and Social Functioning in Elementary-Aged Children with Autism}}. {J Autism Dev Disord};2017 (Mar 04)
There is a paucity of literature examining the relationship between executive and social functioning in children with autism spectrum disorder (ASD). Twenty-three school-aged children with ASD participated. Executive functioning was measured using the Developmental Neuropsychological Assessment, Second Edition and Differential Ability Scales, Second Edition, and the teacher-rated Behavior Rating of Inventory of Executive Function. Independent assessors observed children’s social functioning on the playground while children with ASD and their peers completed a survey to measure peer friendships and rejections. Overall, poorer executive functioning was associated with increased playground isolation and less engagement with peers. This suggests that metacognitive skills such as initiation, working memory, and planning and organization are associated with children’s social functioning.
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5. Goto M, Mizuno M, Matsumoto A, Yang Z, Jimbo EF, Tabata H, Yamagata T, Nagata KI. {{Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders}}. {Sci Rep};2017 (Mar 06);7:43945.
In our previous study, we screened autism spectrum disorder (ASD) patients with and without sleep disorders for mutations in the coding regions of circadian-relevant genes, and detected mutations in several clock genes including NR1D1. Here, we further screened ASD patients for NR1D1 mutations and identified three novel mutations including a de novo heterozygous one c.1499 G > A (p.R500H). We then analyzed the role of Nr1d1 in the development of the cerebral cortex in mice. Acute knockdown of mouse Nr1d1 with in utero electroporation caused abnormal positioning of cortical neurons during corticogenesis. This aberrant phenotype was rescued by wild type Nr1d1, but not by the c.1499 G > A mutant. Time-lapse imaging revealed characteristic abnormal migration phenotypes in Nr1d1-deficient cortical neurons. When Nr1d1 was knocked down, axon extension and dendritic arbor formation of cortical neurons were also suppressed while proliferation of neuronal progenitors and stem cells at the ventricular zone was not affected. Taken together, Nr1d1 was found to play a pivotal role in corticogenesis via regulation of excitatory neuron migration and synaptic network formation. These results suggest that functional defects in NR1D1 may be related to ASD etiology and pathophysiology.
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6. He J, Xie Y, Kong S, Qiu W, Wang X, Wang D, Sun X, Sun D. {{Psychomotor retardation with a 1q42.11-q42.12 deletion}}. {Hereditas};2017;154:6.
A 1q42 deletion is a rare structure variation that commonly harbours various deletion breakpoints along with diversified phenotypes. In our study, we found a de novo 1q42 deletion in a boy who did not have a cleft palate or a congenital diaphragmatic hernia but presented with psychomotor retardation. A 1.9 Mb deletion located within 1q42.11-q42.12 was validated at the molecular cytogenetic level. This is the first report of a 1q42.11-q42.12 deletion in a patient with onlypsychomotor retardation. The precise break points could facilitate the discovery of potential causative genes, such as LBR, EPHX1, etc. The correlation between the psychomotor retardation and the underlying genetic factors could not only shed light on the diagnosis of psychomotor retardation at the genetic level but also provide potential therapeutic targets.
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7. Lee M, Martin GE, Berry-Kravis E, Losh M. {{Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome}}. {J Neurodev Disord};2017;9:10.
[This corrects the article DOI: 10.1186/s11689-016-9179-0.].
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8. Naigles LR, Tek S. {{‘Form is easy, meaning is hard’ revisited: (re) characterizing the strengths and weaknesses of language in children with autism spectrum disorder}}. {Wiley Interdiscip Rev Cogn Sci};2017 (Mar 06)
Children with autism spectrum disorder (ASD) demonstrate impairments in social interaction and communication, and in repetitive/stereotypical behaviors. The degree to which children with ASD also manifest impairments in structural language-such as lexicon and grammar-is currently quite controversial. We reframe this controversy in terms of Naigles’ (Naigles, Cognition 2002, 86: 157-199) ‘form is easy, meaning is hard’ thesis, and propose that the social difficulties of children with ASD will lead the meaning-related components of their language to be relatively more impaired than the form-related components. Our review of the extant literature supports this proposal, with studies (1) reporting that children with ASD demonstrate significant challenges in the areas of pragmatics and lexical/semantic organization and (2) highlighting their good performance on grammatical assessments ranging from wh-questions to reflexive pronouns. Studies on children with ASD who might have a co-morbid grammatical impairment are discussed in light of the absence of relevant lexical-semantic data from the same children. Most importantly, we present direct comparisons of assessments of lexical/semantic organization and grammatical knowledge from the same children from our laboratory, all of which find more children at a given age demonstrating grammatical knowledge than semantic organization. We conclude with a call for additional research in which in-depth grammatical knowledge and detailed semantic organization are assessed in the same children. For further resources related to this article, please visit the WIREs website.
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9. O’Connor RM, Stone EF, Wayne CR, Marcinkevicius EV, Ulgherait M, Delventhal R, Pantalia MM, Hill VM, Zhou CG, McAllister S, Chen A, Ziegenfuss JS, Grueber WB, Canman JC, Shirasu-Hiza MM. {{A Drosophila model of Fragile X syndrome exhibits defects in phagocytosis by innate immune cells}}. {J Cell Biol};2017 (Mar 06);216(3):595-605.
Fragile X syndrome, the most common known monogenic cause of autism, results from the loss of FMR1, a conserved, ubiquitously expressed RNA-binding protein. Recent evidence suggests that Fragile X syndrome and other types of autism are associated with immune system defects. We found that Drosophila melanogaster Fmr1 mutants exhibit increased sensitivity to bacterial infection and decreased phagocytosis of bacteria by systemic immune cells. Using tissue-specific RNAi-mediated knockdown, we showed that Fmr1 plays a cell-autonomous role in the phagocytosis of bacteria. Fmr1 mutants also exhibit delays in two processes that require phagocytosis by glial cells, the immune cells in the brain: neuronal clearance after injury in adults and the development of the mushroom body, a brain structure required for learning and memory. Delayed neuronal clearance is associated with reduced recruitment of activated glia to the site of injury. These results suggest a previously unrecognized role for Fmr1 in regulating the activation of phagocytic immune cells both in the body and the brain.
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10. Qin XY, Cheng Y. {{Brain-Derived Neurotrophic Factor in Autism Spectrum Disorder-Reply}}. {JAMA Pediatr};2017 (Mar 06)
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11. RK CY, Merico D, Bookman M, J LH, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D’Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. {{Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder}}. {Nat Neurosci};2017 (Mar 06)
We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.8 de novo single nucleotide variants and 12.6 de novo insertions and deletions or copy number variations per ASD subject. We identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability (P = 6 x 10-4). In 294 of 2,620 (11.2%) of ASD cases, a molecular basis could be determined and 7.2% of these carried copy number variations and/or chromosomal abnormalities, emphasizing the importance of detecting all forms of genetic variation as diagnostic and therapeutic targets in ASD.
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12. Vorstman JA, Parr JR, Moreno-De-Luca D, Anney RJ, Nurnberger JI, Jr., Hallmayer JF. {{Autism genetics: opportunities and challenges for clinical translation}}. {Nat Rev Genet};2017 (Mar 06)
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.
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13. Wiggins LD, Barger B, Moody E, Soke G, Pandey J, Levy S. {{Brief Report: The ADOS Calibrated Severity Score Best Measures Autism Diagnostic Symptom Severity in Pre-School Children}}. {J Autism Dev Disord};2017 (Mar 06)
The severity of autism spectrum disorder (ASD) is often measured by co-occurring conditions, such as intellectual disability or language delay, rather than deficits in social interaction, and restricted interests and repetitive behaviors. The Autism Diagnostic Observation Schedule calibrated severity score (ADOS CSS) was created to facilitate comparison of the diagnostic features of ASD independent of related conditions over time. We examined the relationship between the ADOS CSS, ADOS total score, and clinician rated degree of impairment (DOI) in the Study to Explore Early Development. Like others, we confirmed that, among the measures we evaluated, the ADOS CSS was least influenced by developmental functioning and demographic factors and is therefore the best measure of core features of ASD in pre-school children.
