0 comments on “Prospective organization of neonatal arm movements: A motor foundation of embodied agency, disrupted in premature birth.”

Prospective organization of neonatal arm movements: A motor foundation of embodied agency, disrupted in premature birth.

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Prospective organization of neonatal arm movements: A motor foundation of embodied agency, disrupted in premature birth.

Dev Sci. 2018 Jun 19;:e12693

Authors: Delafield-Butt JT, Freer Y, Perkins J, Skulina D, Schögler B, Lee DN

Abstract
Prospective motor control moves the body into the future, from where one is to where one wants to be. It is a hallmark of intentionality. But its origin in development is uncertain. In this study, we tested whether or not the arm movements of newborn infants were prospectively controlled. We measured the spatiotemporal organization of 480 full-term neonatal arm movements and 384 arm movements of prematurely born infants at-risk for neurodevelopmental disorder. We found 75% of healthy term-birth neonatal movements and 68% of prematurely born infant movements conformed to the τG -coupling model of prospective sensorimotor control. Prospective coupling values were significantly reduced in the latter (p = .010, r = .087). In both cases prospectively controlled movements were tightly organized by fixed-duration units with a base duration of 218 ms and additional temporal units of 145 ms. Yet distances remained constant. Thus, we demonstrate for the first time a precise prospective spatiotemporal organization of neonatal arm movements and demonstrate that at-risk infants exhibit reduced sensorimotor control. Prospective motor control is a hallmark of primary sensorimotor intentionality and gives a strong embodied foundation to conscious motor agency.

PMID: 29920860 [PubMed – as supplied by publisher]

0 comments on “An Open-Label Discontinuation Trial of Long-Term, Off-Label Antipsychotic Medication in People With Intellectual Disability: Determinants of Success and Failure.”

An Open-Label Discontinuation Trial of Long-Term, Off-Label Antipsychotic Medication in People With Intellectual Disability: Determinants of Success and Failure.

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An Open-Label Discontinuation Trial of Long-Term, Off-Label Antipsychotic Medication in People With Intellectual Disability: Determinants of Success and Failure.

J Clin Pharmacol. 2018 Jun 19;:

Authors: de Kuijper GM, Hoekstra PJ

Abstract
Although physicians are aware of the risks of prescribing long-term off-label antipsychotics in people with intellectual disability, attempts to discontinue often fail. This study aimed to identify potential determinants of successful and failed discontinuation. Long-term off-label antipsychotics were tapered in 14 weeks, with 12.5% of baseline dose every 2 weeks. Participants living in facilities offered by intellectual disability service providers, ≥6 years, with an IQ <70 were eligible to discontinue antipsychotic use, as judged by their physicians. The primary outcome was achievement of complete discontinuation at 16 weeks; changes in the Aberrant Behavior Checklist (ABC) and its 5 subscales were secondary outcomes. Potential determinants of the success or failure in discontinuing antipsychotics were psychotropic drug use and participants' living circumstances, medical health conditions, and severity of behavioral symptoms and neurologic side effects. Of 499 eligible clients, 129 were recruited. Reasons for client non-participation were clinician concerns that discontinuation might increase challenging behaviors and changes in clients' environment. Of the 129 participants, 61% had completely discontinued antipsychotics at 16 weeks, 46% at 28 weeks, and 40% at 40 weeks. ABC total scores increased in 49% of participants with unsuccessful discontinuation at 16 weeks. Autism, higher dose of antipsychotic drug, higher ABC and akathisia scores, and more-frequent worsening of health during discontinuation were associated with a lower incidence of complete discontinuation. Thus, in a selected sample of participants whom responsible clinicians had deemed discontinuation of antipsychotics could be attempted, 40% had achieved and maintained discontinuation at end of follow-up. Physicians should try to address patients' conditions that may hamper discontinuation.

PMID: 29920689 [PubMed – as supplied by publisher]

0 comments on “Variable Behavior and Repeated Learning in Two Mouse Strains: Developmental and Genetic Contributions.”

Variable Behavior and Repeated Learning in Two Mouse Strains: Developmental and Genetic Contributions.

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Variable Behavior and Repeated Learning in Two Mouse Strains: Developmental and Genetic Contributions.

Behav Processes. 2018 Jun 16;:

Authors: Arnold MA, Newland MC

Abstract
Behavioral inflexibility is often assessed using reversal learning tasks, which require a relatively low degree of response variability. No studies have assessed sensitivity to reinforcement contingencies that specifically select highly variable response patterns in mice, let alone in models of neurodevelopmental disorders involving limited response variation. Operant variability and incremental repeated acquisition (IRA) were used to assess unique aspects of behavioral variability of two mouse strains: BALB/c, a model of some deficits in ASD, and C57Bl/6. On the operant variability task, BALB/c mice responded more repetitively during adolescence than C57Bl/6 mice when reinforcement did not require variability but responded more variably when reinforcement required variability. During IRA testing in adulthood, both strains acquired an unchanging, performance sequence equally well. Strain differences emerged, however, after novel learning sequences began alternating with the performance sequence: BALB/c mice substantially outperformed C57Bl/6 mice. Using litter-mate controls, it was found that adolescent experience with variability did not affect either learning or performance on the IRA task in adulthood. These findings constrain the use of BALB/c mice as a model of ASD, but once again reveal this strain is highly sensitive to reinforcement contingencies and they are fast and robust learners.

PMID: 29920301 [PubMed – as supplied by publisher]

0 comments on “Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair.”

Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair.

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Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair.

Dev Cell. 2018 Jun 18;45(6):753-768.e8

Authors: Zhao C, Dong C, Frah M, Deng Y, Marie C, Zhang F, Xu L, Ma Z, Dong X, Lin Y, Koenig S, Nait-Oumesmar B, Martin DM, Wu LN, Xin M, Zhou W, Parras C, Lu QR

Abstract
Disruptive mutations in chromatin remodeler CHD8 cause autism spectrum disorders, exhibiting widespread white matter abnormalities; however, the underlying mechanisms remain elusive. We show that cell-type specific Chd8 deletion in oligodendrocyte progenitors, but not in neurons, results in myelination defects, revealing a cell-intrinsic dependence on CHD8 for oligodendrocyte lineage development, myelination and post-injury remyelination. CHD8 activates expression of BRG1-associated SWI/SNF complexes that in turn activate CHD7, thus initiating a successive chromatin remodeling cascade that orchestrates oligodendrocyte lineage progression. Genomic occupancy analyses reveal that CHD8 establishes an accessible chromatin landscape, and recruits MLL/KMT2 histone methyltransferase complexes distinctively around proximal promoters to promote oligodendrocyte differentiation. Inhibition of histone demethylase activity partially rescues myelination defects of CHD8-deficient mutants. Our data indicate that CHD8 exhibits a dual function through inducing a cascade of chromatin reprogramming and recruiting H3K4 histone methyltransferases to establish oligodendrocyte identity, suggesting potential strategies of therapeutic intervention for CHD8-associated white matter defects.

PMID: 29920279 [PubMed – in process]

0 comments on “A Bayesian space-time model for clustering areal units based on their disease trends.”

A Bayesian space-time model for clustering areal units based on their disease trends.

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A Bayesian space-time model for clustering areal units based on their disease trends.

Biostatistics. 2018 Jun 18;:

Authors: Napier G, Lee D, Robertson C, Lawson A

Abstract
Population-level disease risk across a set of non-overlapping areal units varies in space and time, and a large research literature has developed methodology for identifying clusters of areal units exhibiting elevated risks. However, almost no research has extended the clustering paradigm to identify groups of areal units exhibiting similar temporal disease trends. We present a novel Bayesian hierarchical mixture model for achieving this goal, with inference based on a Metropolis-coupled Markov chain Monte Carlo ((MC)$^3$) algorithm. The effectiveness of the (MC)$^3$ algorithm compared to a standard Markov chain Monte Carlo implementation is demonstrated in a simulation study, and the methodology is motivated by two important case studies in the United Kingdom. The first concerns the impact on measles susceptibility of the discredited paper linking the measles, mumps, and rubella vaccination to an increased risk of Autism and investigates whether all areas in the Scotland were equally affected. The second concerns respiratory hospitalizations and investigates over a 10 year period which parts of Glasgow have shown increased, decreased, and no change in risk.

PMID: 29917057 [PubMed – as supplied by publisher]

0 comments on “Toward a Phenomenological Account of Embodied Subjectivity in Autism.”

Toward a Phenomenological Account of Embodied Subjectivity in Autism.

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Toward a Phenomenological Account of Embodied Subjectivity in Autism.

Cult Med Psychiatry. 2018 Jun 18;:

Authors: Boldsen S

Abstract
Sensorimotor research is currently challenging the dominant understanding of autism as a deficit in the cognitive ability to ‘mindread’. This marks an emerging shift in autism research from a focus on the structure and processes of the mind to a focus on autistic behavior as grounded in the body. Contemporary researchers in sensorimotor differences in autism call for a reconciliation between the scientific understanding of autism and the first-person experience of autistic individuals. I argue that fulfilling this ambition requires a phenomenological understanding of the body as it presents itself in ordinary experience, namely as the subject of experience rather than a physical object. On this basis, I investigate how the phenomenology of Maurice Merleau-Ponty can be employed as a frame of understanding for bodily experience in autism. Through a phenomenological analysis of Tito Mukhopadhyay’s autobiographical work, How can I talk if my lips don’t move (2009), I illustrate the relevance and potential of phenomenological philosophy in autism research, arguing that this approach enables a deeper understanding of bodily and subjective experiences related to autism.

PMID: 29915927 [PubMed – as supplied by publisher]

0 comments on “Coping strategies of parents of children with autism spectrum disorder: a systematic review.”

Coping strategies of parents of children with autism spectrum disorder: a systematic review.

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Coping strategies of parents of children with autism spectrum disorder: a systematic review.

Eur Child Adolesc Psychiatry. 2018 Jun 18;:

Authors: Vernhet C, Dellapiazza F, Blanc N, Cousson-Gélie F, Miot S, Roeyers H, Baghdadli A

Abstract
To deal with stress, parents of children with ASD use coping strategies that help to tackle the challenging situations of raising their child. This systematic review examines parental coping strategy’s questionnaires, factors which influence these coping strategies, interactions between these strategies and perceived stress and their impact on parental quality of life. According to PRISMA guidelines, an electronic search was conducted on Medline, PsycInfo and Eric: 156 articles were identified and 11 studies were selected. Many types of self-reported questionnaires were used to assess parental coping strategies. Studies highlighted that parents of a child with ASD used more avoidance strategies and less social support-seeking strategies than those of typical children. Furthermore, problem-focused coping protects parental stress and quality of life, that on the contrary, emotion-focused coping is a risk factor for alteration. Our systematic review illustrates the need to adapt psychoeducational interventions for parents of children with ASD.

PMID: 29915911 [PubMed – as supplied by publisher]

0 comments on “Editorial: Children and Companion Animals: Psychosocial, Medical and Neurobiological Implications.”

Editorial: Children and Companion Animals: Psychosocial, Medical and Neurobiological Implications.

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Editorial: Children and Companion Animals: Psychosocial, Medical and Neurobiological Implications.

Front Vet Sci. 2018;5:112

Authors: Beetz A, Hart LA, Jegatheesan BI, Koda N

PMID: 29915787 [PubMed]

0 comments on “The missing link in autism spectrum disorder: a specific cause and the practitioner.”

The missing link in autism spectrum disorder: a specific cause and the practitioner.

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The missing link in autism spectrum disorder: a specific cause and the practitioner.

Pediatr Res. 2018 Jun 18;:

Authors: Rivkees SA, Opipari V

PMID: 29915409 [PubMed – as supplied by publisher]

0 comments on “Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).”

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

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Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med. 2018 Jun 18;:

Authors: Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT, ACMG Professional Practice and Guidelines Committee

Abstract
PURPOSE: Chromosomal microarray (CMA) is recommended as the first-tier test in evaluation of individuals with neurodevelopmental disability and congenital anomalies. CMA may not detect balanced cytogenomic abnormalities or uniparental disomy (UPD), and deletion/duplications and regions of homozygosity may require additional testing to clarify the mechanism and inform accurate counseling. We conducted an evidence review to synthesize data regarding the benefit of additional testing after CMA to inform a genetic diagnosis.
METHODS: The review was guided by key questions related to the detection of genomic events that may require additional testing. A PubMed search for original research articles, systematic reviews, and meta-analyses was evaluated from articles published between 1 January 1983 and 31 March 2017. Based on the key questions, articles were retrieved and data extracted in parallel with comparison of results and discussion to resolve discrepancies. Variables assessed included study design and outcomes.
RESULTS: A narrative synthesis was created for each question to describe the occurrence of, and clinical significance of, additional diagnostic findings from subsequent testing performed after CMA.
CONCLUSION: These findings may be used to assist the laboratory and clinician when making recommendations about additional testing after CMA, as it impacts clinical care, counseling, and diagnosis.

PMID: 29915380 [PubMed – as supplied by publisher]

0 comments on “Being vs. Appearing Socially Uninterested: Challenging Assumptions about Social Motivation in Autism.”

Being vs. Appearing Socially Uninterested: Challenging Assumptions about Social Motivation in Autism.

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Being vs. Appearing Socially Uninterested: Challenging Assumptions about Social Motivation in Autism.

Behav Brain Sci. 2018 Jun 19;:1-84

Authors: Jaswal VK, Akhtar N

Abstract
Progress in psychological science can be limited by a number of factors, not least of which are the starting assumptions of scientists themselves. We believe that some influential accounts of autism rest on a questionable assumption that many of its behavioral characteristics indicate a lack of social interest-an assumption that is flatly contradicted by the testimony of many autistic people themselves. In this paper, we challenge this assumption by describing alternative explanations for four such behaviors: (a) low levels of eye contact, (b) infrequent pointing, (c) motor stereotypies, and (d) echolalia. The assumption that autistic people’s unusual behaviors indicate diminished social motivation has had profound and often negative effects on the ways they are studied and treated. We argue that understanding and supporting autistic individuals will require interrogating this assumption, taking autistic testimony seriously, considering alternative explanations for unusual behaviors, and investigating unconventional-even idiosyncratic-ways that autistic individuals may express their social interest. These steps are crucial, we believe, for creating a more accurate, humane, and useful science of autism.

PMID: 29914590 [PubMed – as supplied by publisher]

0 comments on “Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.”

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

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Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

J Neurodev Disord. 2018 Jun 18;10(1):21

Authors: Pierpont EI, Hudock RL, Foy AM, Semrud-Clikeman M, Pierpont ME, Berry SA, Shanley R, Rubin N, Sommer K, Moertel CL

Abstract
BACKGROUND: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS.
METHODS: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child’s social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety.
RESULTS: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills.
CONCLUSIONS: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention.

PMID: 29914349 [PubMed – in process]

0 comments on “Magnesium in the Central Nervous System”

Magnesium in the Central Nervous System

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Magnesium in the Central Nervous System

Book. 2011

Authors: Vink R, Nechifor M

Abstract
For many years, magnesium has been described as a crucial factor for cellular activity. In this chapter, a brief overview of pharmacology and genetics of magnesium transport will be followed by a review of clinical and biological studies of Mg-vitamin B6 supplementation in attention deficit/hyperactivity disorder (ADHD) and autism (autistic spectrum disorders family, ASD) in children. Although no study carried out on a rational basis has been published to date, some experimental and/or clinical works support a positive effect of such therapy in these pathologies. All the individual observations report a decrease in hyperactivity and a stabilization of scholarly behaviour with treatment. These data strongly support the need for a controlled study to confirm or invalidate these assumptions.

PMID: 29920003

0 comments on “Discriminating autism and language impairment and specific language impairment through acuity of musical imagery.”

Discriminating autism and language impairment and specific language impairment through acuity of musical imagery.

Discriminating autism and language impairment and specific language impairment through acuity of musical imagery.

Res Dev Disabil. 2018 Jun 15;80:52-63

Authors: Heaton P, Tsang WF, Jakubowski K, Mullensiefen D, Allen R

Abstract
Deficits in auditory short-term memory have been widely reported in children with Specific Language Impairment (SLI), and recent evidence suggests that children with Autism Spectrum Disorder and co-morbid language impairment (ALI) experience similar difficulties. Music, like language relies on auditory memory and the aim of the study was to extend work investigating the impact of auditory short-term memory impairments to musical perception in children with neurodevelopmental disorders. Groups of children with SLI and ALI were matched on chronological age (CA), receptive vocabulary, non-verbal intelligence and digit span, and compared with CA matched typically developing (TD) controls, on tests of pitch and temporal acuity within a voluntary musical imagery paradigm. The SLI participants performed at significantly lower levels than the ALI and TD groups on both conditions of the task and their musical imagery and digit span scores were positively correlated. In contrast ALI participants performed as well as TD controls on the tempo condition and better than TD controls on the pitch condition of the task. Whilst auditory short-term memory and receptive vocabulary impairments were similar across ALI and SLI groups, these were not associated with a deficit in voluntary musical imagery performance in the ALI group.

PMID: 29913330 [PubMed – as supplied by publisher]

0 comments on “Memantine rescues prenatal citalopram exposure-induced striatal and social abnormalities in mice.”

Memantine rescues prenatal citalopram exposure-induced striatal and social abnormalities in mice.

Memantine rescues prenatal citalopram exposure-induced striatal and social abnormalities in mice.

Exp Neurol. 2018 Jun 15;:

Authors: Zahra A, Jiang J, Chen Y, Long C, Yang L

Abstract
Prenatal exposure to citalopram (CTM), an antidepressant drug, has been associated with altered behavior, including autism-like symptoms in both human and rodent offspring. However, the neurological basis underlying these abnormal behaviors is not well understood. Here, we examined behavioral, morphological, and biochemical alterations in the male and female offspring of C57BL/6 mouse mothers that had been exposed to CTM during the last trimester of gestation. We observed abnormal behavior such as anxiety, altered locomotion and disordered social interactions in 2-5 month old offspring with prenatal CTM exposure. Using Golgi-Cox staining, we found that CTM caused significantly reduced dendritic length and number of dendritic branches in striatal neurons, as well as altered subunit levels of N-methyl-d-aspartate receptors (NMDARs) and calcium/calmodulin-dependent protein kinase II (CaMKII). Memantine, a selective NMDAR antagonist, improved prenatal CTM-induced abnormal protein levels and social interaction deficits. These results highlight potential mechanisms underlying the abnormal behavior observed in children who are prenatally exposed to CTM.

PMID: 29913137 [PubMed – as supplied by publisher]

0 comments on “Multigenerational effects of bisphenol A or ethinyl estradiol exposure on F2 California mice (Peromyscus californicus) pup vocalizations.”

Multigenerational effects of bisphenol A or ethinyl estradiol exposure on F2 California mice (Peromyscus californicus) pup vocalizations.

Multigenerational effects of bisphenol A or ethinyl estradiol exposure on F2 California mice (Peromyscus californicus) pup vocalizations.

PLoS One. 2018;13(6):e0199107

Authors: Johnson SA, Farrington MJ, Murphy CR, Caldo PD, McAllister LA, Kaur S, Chun C, Ortega MT, Marshall BL, Hoffmann F, Ellersieck MR, Schenk AK, Rosenfeld CS

Abstract
Rodent pups use vocalizations to communicate with one or both parents in biparental species, such as California mice (Peromyscus californicus). Previous studies have shown California mice developmentally exposed to endocrine disrupting chemicals, bisphenol A (BPA) or ethinyl estradiol (EE), demonstrate later compromised parental behaviors. Reductions in F1 parental behaviors might also be due to decreased emissions of F2 pup vocalizations. Thus, vocalizations of F2 male and female California mice pups born to F1 parents developmentally exposed to BPA, EE, or controls were examined. Postnatal days (PND) 2-4 were considered early postnatal period, PND 7 and 14 were defined as mid-postnatal period, and PND 21 and 28 were classified as late postnatal period. EE pups showed increased latency to emit the first syllable compared to controls. BPA female pups had decreased syllable duration compared to control and EE female pups during the early postnatal period but enhanced responses compared to controls at late postnatal period; whereas, male BPA and EE pups showed greater syllable duration compared to controls during early postnatal period. In mid-postnatal period, F2 BPA and EE pups emitted greater number of phrases than F2 control pups. Results indicate aspects of vocalizations were disrupted in F2 pups born to F1 parents developmentally exposed to BPA or EE, but their responses were not always identical, suggesting BPA might not activate estrogen receptors to the same extent as EE. Changes in vocalization patterns by F2 pups may be due to multigenerational exposure to BPA or EE and/or reduced parental care received.

PMID: 29912934 [PubMed – in process]

0 comments on “eQTLs Weighted Genetic Correlation Analysis Detected Brain Region Differences in Genetic Correlations for Complex Psychiatric Disorders.”

eQTLs Weighted Genetic Correlation Analysis Detected Brain Region Differences in Genetic Correlations for Complex Psychiatric Disorders.

eQTLs Weighted Genetic Correlation Analysis Detected Brain Region Differences in Genetic Correlations for Complex Psychiatric Disorders.

Schizophr Bull. 2018 Jun 15;:

Authors: Wen Y, Zhang F, Ma X, Fan Q, Wang W, Xu J, Zhu F, Hao J, He A, Liu L, Liang X, Du Y, Li P, Wu C, Wang S, Wang X, Ning Y, Guo X

Abstract
Background: Psychiatric disorders are usually caused by the dysfunction of various brain regions. Incorporating the genetic information of brain regions into correlation analysis can provide novel clues for pathogenetic and therapeutic studies of psychiatric disorders.
Methods: The latest genome-wide association study (GWAS) summary data of schizophrenia (SCZ), bipolar disorder (BIP), autism spectrum disorder (AUT), major depression disorder (MDD), and attention-deficit/hyperactivity disorder (ADHD) were obtained from the Psychiatric GWAS Consortium (PGC). The expression quantitative trait loci (eQTLs) datasets of 10 brain regions were driven from the genotype-tissue expression (GTEx) database. The PGC GWAS summaries were first weighted by the GTEx eQTLs summaries for each brain region. Linkage disequilibrium score regression was applied to the weighted GWAS summary data to detect genetic correlation for each pair of 5 disorders.
Results: Without considering brain region difference, significant genetic correlations were observed for BIP vs SCZ (P = 1.68 × 10-63), MDD vs SCZ (P = 5.08 × 10-45), ADHD vs MDD (P = 1.93 × 10-44), BIP vs MDD (P = 6.39 × 10-9), AUT vs SCZ (P = .0002), and ADHD vs SCZ (P = .0002). Utilizing brain region related eQTLs weighted LD score regression, different strengths of genetic correlations were observed within various brain regions for BIP vs SCZ, MDD vs SCZ, ADHD vs MDD, and SCZ vs ADHD. For example, the most significant genetic correlations were observed at anterior cingulate cortex (P = 1.13 × 10-34) for BIP vs SCZ.
Conclusions: This study provides new clues for elucidating the mechanism of genetic correlations among various psychiatric disorders.

PMID: 29912442 [PubMed – as supplied by publisher]

0 comments on “TiSAn: Estimating Tissue Specific Effects of Coding and Noncoding Variants.”

TiSAn: Estimating Tissue Specific Effects of Coding and Noncoding Variants.

TiSAn: Estimating Tissue Specific Effects of Coding and Noncoding Variants.

Bioinformatics. 2018 Apr 18;:

Authors: Vervier K, Michaelson JJ

Abstract
Motivation: Model-based estimates of general deleteriousness, like CADD, DANN or PolyPhen, have become indispensable tools in the interpretation of genetic variants. However, these approaches say little about the tissues in which the effects of deleterious variants will be most meaningful. Tissue-specific annotations have been recently inferred for dozens of tissues/cell types from large collections of cross-tissue epigenomic data, and have demonstrated sensitivity in predicting affected tissues in complex traits. It remains unclear, however, whether including additional genome-scale data specific to the tissue of interest would appreciably improve functional annotations.
Results: Here, we introduce TiSAn (Tissue Specific Annotation), a tool that integrates multiple genome-scale data sources, defined by expert knowledge. TiSAn uses machine learning to discriminate variants relevant to a tissue from those with no bearing on the function of that tissue. Predictions are made genome-wide, and can be used to contextualize and filter variants of interest in whole genome sequencing or genome wide association studies (GWAS). We demonstrate the accuracy and flexibility of TiSAn by producing predictive models for human heart and brain, and detecting tissue-relevant variations in large cohorts for autism spectrum disorder (TiSAn-brain) and coronary artery disease (TiSAn-heart). We find the multi-omics TiSAn model is better able to prioritize genetic variants according to their tissue-specific action than the current state of the art method, GenoSkyLine.
Availability: Software and vignettes are available at (http://github.com/kevinVervier/TiSAn).
Contact: Jacob-Michaelson@uiowa.edu.
Supplementary information: Supplementary data are available at Bioinformatics online.

PMID: 29912365 [PubMed – as supplied by publisher]

0 comments on “Use of Props During Mealtime for Children With Autism Spectrum Disorders: Self-Regulation and Reinforcement.”

Use of Props During Mealtime for Children With Autism Spectrum Disorders: Self-Regulation and Reinforcement.

Use of Props During Mealtime for Children With Autism Spectrum Disorders: Self-Regulation and Reinforcement.

OTJR (Thorofare N J). 2018 Jun 01;:1539449218778558

Authors: Muesbeck J, St John BM, Kant S, Ausderau KK

Abstract
Mealtime is an important family routine commonly affected for families with children with autism spectrum disorders (ASD). Limited research is available regarding strategies families incorporate to support mealtime engagement. The purpose of this study was to explore the frequency and characterize the purpose of Props used during mealtimes with children with ASD. A total of 12 families with a child(ren), N = 14, aged 2 to 7 years, with ASD and mealtime challenges or eating difficulties participated in video-recorded mealtimes in their home. Independent coders analyzed mealtimes for the frequency and purpose of Props (items used to support child participation during mealtime). Props were used by 75% of families ( n = 9); common Props included toys, electronics, and books. Props were used primarily as a self-regulation tool for the child and occasionally as positive reinforcement for specific behaviors. Overall, Props were used to support child engagement in mealtime. Occupational therapists should consider using Props as individualized, accessible, and supportive mealtime interventions for families and children.

PMID: 29911486 [PubMed – as supplied by publisher]

0 comments on “Effects of reinforcement without extinction on increasing compliance with nail cutting: A systematic replication.”

Effects of reinforcement without extinction on increasing compliance with nail cutting: A systematic replication.

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Effects of reinforcement without extinction on increasing compliance with nail cutting: A systematic replication.

J Appl Behav Anal. 2018 Jun 17;:

Authors: Dowdy A, Tincani M, Nipe T, Weiss MJ

Abstract
Personal hygiene routines, such as nail cutting, are essential for maintaining good health. However, individuals with autism spectrum disorder (ASD) and other developmental disabilities often struggle to comply with essential, personal hygiene routines. We conducted a systematic replication of, and to evaluate an intervention that did not require escape extinction for increasing compliance with nail cutting. With two adolescents diagnosed with ASD who resisted nail cutting, we evaluated the effects of delivering a preferred edible item contingent on compliance with nail cutting. Results indicated that the treatment reduced participants’ escape responses and increased their compliance with nail cutting.

PMID: 29911334 [PubMed – as supplied by publisher]

0 comments on “Comparing procedures on the acquisition and generalization of tacts for children with autism spectrum disorder.”

Comparing procedures on the acquisition and generalization of tacts for children with autism spectrum disorder.

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Comparing procedures on the acquisition and generalization of tacts for children with autism spectrum disorder.

J Appl Behav Anal. 2018 Jun 17;:

Authors: Schnell LK, Vladescu JC, Kodak T, Nottingham CL

Abstract
Generalization is a critical outcome for individuals with autism spectrum disorder (ASD) who display new skills in a limited range of contexts. In the absence of proper planning, generalization may not be observed. The purpose of the current study was to directly compare serial to concurrent multiple exemplar training using total training time per exemplar, mean total training time, and exposures to mastery across three children diagnosed with ASD. Additionally, we assessed the efficiency of presenting secondary targets in the antecedent and consequence portions of learning trials and evaluated generalization to tacts not associated with direct teaching. Results suggested that all training conditions produced acquisition and generalization for trained and untrained exemplars. However, the serial multiple exemplar training condition was more efficient for two participants, whereas the instructive feedback condition was the most efficient for the third. Findings are discussed considering previous studies and areas for future research.

PMID: 29911305 [PubMed – as supplied by publisher]

0 comments on “Observational learning and children with autism: discrimination training of known and unknown stimuli.”

Observational learning and children with autism: discrimination training of known and unknown stimuli.

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Observational learning and children with autism: discrimination training of known and unknown stimuli.

J Appl Behav Anal. 2018 Jun 17;:

Authors: DeQuinzio JA, Taylor BA, Tomasi BJ

Abstract
We extended past observational learning research by incorporating stimuli already known to participants into training. We used a multiple-baseline design across three participants to determine the effects of discrimination training on the discrimination of consequences applied to modeled responses using both known and unknown pictures. During baseline, participants were exposed to modeled correct and incorrect picture labels and were observed to imitate modeled responses that were incorrect and followed by negative feedback. During discrimination training, we taught participants to label known pictures regardless of observed responses and consequences. With unknown pictures, we taught participants to imitate correct and reinforced modeled responses, and to say, “I don’t know,” when modeled responses were incorrect and received negative feedback. Test sessions measured responding to known and unknown pictures and showed acquisition over baseline levels. Generalization to pictures not associated with training was variable. Implications for teaching observational learning to children with autism are discussed.

PMID: 29911304 [PubMed – as supplied by publisher]

0 comments on “An experimental demonstration of AAB renewal in children with autism spectrum disorder.”

An experimental demonstration of AAB renewal in children with autism spectrum disorder.

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An experimental demonstration of AAB renewal in children with autism spectrum disorder.

J Exp Anal Behav. 2018 Jun 17;:

Authors: Cohenour JM, Volkert VM, Allen KD

Abstract
Operant renewal is a return of extinguished behavior due to changes in contextual stimuli that control the occurrence or nonoccurrence of a response. Well-established in classical conditioning and operant research, renewal presents itself in three forms-ABA, ABC, and AAB-and poses threats to treatment maintenance where extinction procedures are utilized. As AAB renewal may be less likely to occur than ABA or ABC renewal, the current study sought to determine if AAB renewal would occur with three participants with Autism Spectrum Disorder who were taught a simple lever pull response. Results showed that lever pulls increased for two of three participants when we introduced novel stimuli (i.e., a light and a buzzer) to alter the contextual environment after extinction. These findings suggest that AAB renewal may account for some instances of response recovery after extinction and that the procedure of this study may be beneficial to the further study of renewal and the variables that affect its occurrence within a translational model.

PMID: 29911303 [PubMed – as supplied by publisher]

0 comments on “The effects of noncontingent music and response interruption and redirection on vocal stereotypy.”

The effects of noncontingent music and response interruption and redirection on vocal stereotypy.

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The effects of noncontingent music and response interruption and redirection on vocal stereotypy.

J Appl Behav Anal. 2018 Jun 17;:

Authors: Gibbs AR, Tullis CA, Thomas R, Elkins B

Abstract
Vocal stereotypy is a commonly occurring challenging behavior in children with autism spectrum disorder (ASD) that is frequently maintained by automatic reinforcement and often interferes with skill acquisition. Matched stimulation (MS), and response interruption and redirection (RIRD) are two interventions that have been demonstrated to be effective in reducing the occurrence of vocal stereotypy with participants with ASD. The current study sought to determine if the combination of MS (noncontingent music) and RIRD was more effective at reducing vocal stereotypy than RIRD alone and if the parents of children with ASD found the combination of MS and RIRD more socially valid than RIRD alone. The results suggested that the combined intervention resulted in greater suppression of vocal stereotypy and increased occurrences of on-task behavior in both participants. Additionally, RIRD required fewer implementations and had a shorter duration when combined with MS. Results suggest that the combination of MS and RIRD may be an effective intervention outside of highly controlled settings.

PMID: 29911301 [PubMed – as supplied by publisher]

0 comments on “Mycobacterium avium subspecies paratuberculosis: A possible causative agent in human morbidity and risk to public health safety.”

Mycobacterium avium subspecies paratuberculosis: A possible causative agent in human morbidity and risk to public health safety.

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Mycobacterium avium subspecies paratuberculosis: A possible causative agent in human morbidity and risk to public health safety.

Open Vet J. 2018;8(2):172-181

Authors: Garvey M

Abstract
Mycobacterium avium subspecies paratuberculosis is a bacterial parasite and the causative agent of paratuberculosis, a disease predominately found in cattle and sheep. Infection with this microorganism results in substantial farming economic losses and animal morbidity. The link between infection with this pathogen and human disease has been theorised for many years with Crohn’s disease being one of many suspected resultant conditions. Mycobacterium avium may be spread from animal to human hosts by water and foodborne transmission routes, where the foodborne route of exposure represents a significant risk for susceptible populations, namely children and the immune-compromised. Following colonisation of the host, the parasitic organism evades the host immune system by use of molecular mimicry, displaying peptide sequences similar to that of the host cells causing a disruption of self-verses non self-recognition. Theoretically, this failure to recognise the invading organism as distinct from host cells may result in numerous autoimmune conditions. Here, the author presents current information assessing the link between numerous diseases states in humans such inflammatory bowel disease, Type 1 diabetes, rheumatoid arthritis, Hashimoto’s thyroiditis, multiple sclerosis and autism following infection with Mycobacterium avium paratuberculosis. The possibility of zoonotic transmission of the organism and its significant risk to public health safety as a consequence is also discussed.

PMID: 29911021 [PubMed]

0 comments on “The prevalence of autism spectrum disorders in China: a comprehensive meta-analysis.”

The prevalence of autism spectrum disorders in China: a comprehensive meta-analysis.

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The prevalence of autism spectrum disorders in China: a comprehensive meta-analysis.

Int J Biol Sci. 2018;14(7):717-725

Authors: Wang F, Lu L, Wang SB, Zhang L, Ng CH, Ungvari GS, Cao XL, Lu JP, Hou CL, Jia FJ, Xiang YT

Abstract
There are conflicting prevalence estimates of autism spectrum disorders (ASDs) in mainland China (China thereafter). This study is a comprehensive meta-analysis of the pooled prevalence of ASDs in the general population in China. Study investigators independently conducted a systematic literature search of the following databases: PubMed, EMBASE, PsycINFO, China National Knowledge Infrastructure, Chinese biomedical literature service system, and Wan Fang. Studies reporting prevalence of ASDs and autism in Chinese population were identified and analysed using the Comprehensive Meta-Analysis program with the random effects model. Forty-four studies were included in the meta-analysis comprising 2,337,321 subjects of whom 46.66 % were females. The mean age of subjects ranged from 1.6 to 8 years. Based on diagnostic criteria the pooled prevalence of ASDs was 39.23 per 10,000 (95% CI: 28.44-50.03 per 10,000, I2=89.2%); specifically, the prevalence of autism was 10.18 per 10,000 (95% CI: 8.46-11.89 per 10,000, I2=92.5%). Subgroup analyses revealed significant difference in the prevalence of ASDs between genders (72.77 per 10,000 in males vs. 16.45 per 10,000 in females). In conclusion, the prevalence of ASDs and autism in China was found generally lower than those reported in other countries. Further studies are needed to clarify the variation in prevalence.

PMID: 29910682 [PubMed – in process]

0 comments on “Acetaminophen, antibiotics, ear infection, breastfeeding, vitamin D drops, and autism: an epidemiological study.”

Acetaminophen, antibiotics, ear infection, breastfeeding, vitamin D drops, and autism: an epidemiological study.

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Acetaminophen, antibiotics, ear infection, breastfeeding, vitamin D drops, and autism: an epidemiological study.

Neuropsychiatr Dis Treat. 2018;14:1399-1414

Authors: Bittker SS, Bell KR

Abstract
Background: While many studies have examined environmental risk factors for autism spectrum disorder (ASD), much of the research focus has been on prenatal or perinatal factors. Yet, the postnatal environment may affect the risk of ASD as well.
Objective: To determine whether a set of five postnatal variables are associated with ASD. These variables are: acetaminophen exposure, antibiotic exposure, incidence of ear infection, decreased duration of breastfeeding, and decreased consumption of oral vitamin D drops.
Materials and methods: An Internet-based survey was conducted. Participants were parents living in the USA with at least one biological child between 3 and 12 years of age. Potential participants were informed about the survey via postings on social media, websites, and listservs and were offered an opportunity to participate in a raffle as well. Participants were also recruited through the Interactive Autism Network.
Results: There were 1,741 completed survey responses. After exclusions, there remained 1,001 responses associated with children with ASD (cases) and 514 responses associated with children who do not have ASD (controls). In this data set, doses of postnatal acetaminophen (adjusted odds ratio [aOR] 1.016, CI: 1.003-1.032, p=0.026), courses of postnatal antibiotics (aOR 1.103, CI: 1.046-1.168, p<0.001), incidence of postnatal ear infection (aOR 1.137, CI: 1.046-1.236, p=0.003), and decreased duration of breastfeeding (aOR 0.948, CI: 0.932-0.965, p<0.001) are all associated with ASD when adjusted for eight demographic variables. A weak association between oral vitamin D drop exposure and ASD was also found when adjusted for breastfeeding and demographics (aOR 1.025, CI: 0.995-1.056, p=0.102).
Conclusion: This study adds to evidence that postnatal acetaminophen use, postnatal antibiotic use, incidence of ear infection, and early weaning are associated with an increased risk of ASD. It also finds that postnatal oral vitamin D drops are weakly associated with ASD when adjusted for breastfeeding and demographics.

PMID: 29910617 [PubMed]

0 comments on “The evolution of a series of behavioral traits is associated with autism-risk genes in cavefish.”

The evolution of a series of behavioral traits is associated with autism-risk genes in cavefish.

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The evolution of a series of behavioral traits is associated with autism-risk genes in cavefish.

BMC Evol Biol. 2018 Jun 18;18(1):89

Authors: Yoshizawa M, Settle A, Hermosura MC, Tuttle LJ, Cetraro N, Passow CN, McGaugh SE

Abstract
BACKGROUND: An essential question in evolutionary biology is whether shifts in a set of polygenic behaviors share a genetic basis across species. Such a behavioral shift is seen in the cave-dwelling Mexican tetra, Astyanax mexicanus. Relative to surface-dwelling conspecifics, cavefish do not school (asocial), are hyperactive and sleepless, adhere to a particular vibration stimulus (imbalanced attention), behave repetitively, and show elevated stress hormone levels. Interestingly, these traits largely overlap with the core symptoms of human autism spectrum disorder (ASD), raising the possibility that these behavioral traits are underpinned by a similar set of genes (i.e. a repeatedly used suite of genes).
RESULT: Here, we explored whether modification of ASD-risk genes underlies cavefish evolution. Transcriptomic analyses revealed that > 58.5% of 3152 cavefish orthologs to ASD-risk genes are significantly up- or down-regulated in the same direction as genes in postmortem brains from ASD patients. Enrichment tests suggest that ASD-risk gene orthologs in A. mexicanus have experienced more positive selection than other genes across the genome. Notably, these positively selected cavefish ASD-risk genes are enriched for pathways involved in gut function, inflammatory diseases, and lipid/energy metabolism, similar to symptoms that frequently coexist in ASD patients. Lastly, ASD drugs mitigated cavefish’s ASD-like behaviors, implying shared aspects of neural processing.
CONCLUSION: Overall, our study indicates that ASD-risk genes and associated pathways (especially digestive, immune and metabolic pathways) may be repeatedly used for shifts in polygenic behaviors across evolutionary time.

PMID: 29909776 [PubMed – in process]

0 comments on “Planning Skills of Adolescents With ADHD.”

Planning Skills of Adolescents With ADHD.

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Planning Skills of Adolescents With ADHD.

J Atten Disord. 2018 Jan;22(1):46-57

Authors: Boyer BE, Geurts HM, Van der Oord S

Abstract
OBJECTIVE: This study assesses planning skills of adolescents with ADHD using a multi-method assessment and explores subtype differences between inattentive and combined subtypes.
METHOD: One hundred fifteen adolescents with ADHD and 34 typically developing controls completed subtests of the Delis-Kaplan Executive Function System (D-KEFS), Behavioral Assessment of the Dysexecutive Syndrome (BADS), and Behavior Rating Inventory of Executive Function (BRIEF).
RESULTS: No group differences were found on the D-KEFS. The BADS Zoo Map test showed longer completion times in the inattentive than in the combined subtype and controls. The BRIEF showed more planning problems in adolescents with ADHD (both subtypes) than in controls, with the combined subtype showing most problems on overall executive functioning.
CONCLUSION: Only a proportion of adolescents with ADHD shows planning deficits. To capture these planning problems in adolescents with ADHD, it seems important to use multiple measures of planning, both ratings and “less structured” neurocognitive measures of planning.

PMID: 24972795 [PubMed – indexed for MEDLINE]

0 comments on “Leisure Participation Patterns for School Age Youth with Autism Spectrum Disorders: Findings from the 2016 National Survey of Children’s Health.”

Leisure Participation Patterns for School Age Youth with Autism Spectrum Disorders: Findings from the 2016 National Survey of Children’s Health.

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Leisure Participation Patterns for School Age Youth with Autism Spectrum Disorders: Findings from the 2016 National Survey of Children’s Health.

J Autism Dev Disord. 2018 Jun 16;:

Authors: Ratcliff K, Hong I, Hilton C

Abstract
Leisure activity participation is important for health and well-being. This study examined similarities and differences between typically developing children and those with autism spectrum disorders (ASD) from 6 to 17 years old in physical, recreational, social, skill, and jobs/chores activities from a large national database. Findings revealed that children with ASD had significantly lower participation levels than those without ASD between 11 and 17 years old. They suggest an increasing disparity among many types of leisure participation for children and youth with ASD as they age, eventually leading to limited participation in adult activities. They reinforce the importance of intervention at an early age to increase participation in these activities to promote development of skills that contribute to adult competencies.

PMID: 29909498 [PubMed – as supplied by publisher]