0 comments on “Mobile technology use and skills among individuals with fragile X syndrome: implications for healthcare decision making.”

Mobile technology use and skills among individuals with fragile X syndrome: implications for healthcare decision making.

Related Articles

Mobile technology use and skills among individuals with fragile X syndrome: implications for healthcare decision making.

J Intellect Disabil Res. 2018 Aug 13;:

Authors: Raspa M, Fitzgerald T, Furberg RD, Wylie A, Moultrie R, DeRamus M, Wheeler AC, McCormack L

Abstract
BACKGROUND: Little is known about how individuals with fragile X syndrome (FXS) and their families use technology in daily life and what skills individuals with FXS can perform when using mobile technologies.
METHODS: Using a mixed-methods design, including an online survey of parents (n = 198) and a skills assessment of individuals with FXS (n = 6), we examined the experiences and abilities of individuals with FXS for engaging with mobile technology.
RESULTS: Parents reported that individuals with FXS often used technology in their daily lives, with variations based on age of child, sex, autism status, depression, and overall ability. Parents frequently sought and shared FXS-related information online. Assessment data revealed that individuals with FXS demonstrated proficiency in interacting with technology.
CONCLUSIONS: Mobile technology is a tool that can be used in FXS to build skills and increase independence rather than simply for recreational purposes. Implications for using mobile technology to enhance healthcare decision making are discussed.

PMID: 30105880 [PubMed – as supplied by publisher]

0 comments on “Service satisfaction and helpfulness ratings, mental health literacy and help seeking barriers of carers of individuals with dual disabilities.”

Service satisfaction and helpfulness ratings, mental health literacy and help seeking barriers of carers of individuals with dual disabilities.

Related Articles

Service satisfaction and helpfulness ratings, mental health literacy and help seeking barriers of carers of individuals with dual disabilities.

J Appl Res Intellect Disabil. 2018 Aug 13;:

Authors: Man J, Kangas M

Abstract
BACKGROUND: Carer mental health literacy and help seeking are areas that are not well researched in the intellectual disability field. This study aimed to explore the above including service utilization experiences of Australian parents with an offspring with an intellectual disability and a comorbid psychiatric disorder.
METHOD: Forty-one parents took part in an online survey assessing satisfaction and helpfulness ratings of received services. Twenty-six parents also completed items to assess mental health literacy and attitudinal barriers to help seeking.
RESULTS: Parents showed good mental health literacy with depression and with challenging behaviour associated with autism and poorer literacy with mixed presentations. Few attitudinal barriers to help seeking were reported. Parents reported varied helpfulness and satisfaction ratings with disability and mental health services.
CONCLUSIONS: Parents are capable of recognizing the need to seek professional help for their offspring. Implications for service coordination, provision and carer involvement are discussed.

PMID: 30105790 [PubMed – as supplied by publisher]

0 comments on “Social Skills Deficits in Autism Spectrum Disorder: Potential Biological Origins and Progress in Developing Therapeutic Agents.”

Social Skills Deficits in Autism Spectrum Disorder: Potential Biological Origins and Progress in Developing Therapeutic Agents.

Related Articles

Social Skills Deficits in Autism Spectrum Disorder: Potential Biological Origins and Progress in Developing Therapeutic Agents.

CNS Drugs. 2018 Aug 14;:

Authors: Frye RE

Abstract
Autism spectrum disorder is defined by two core symptoms: a deficit in social communication and the presence of repetitive behaviors and/or restricted interests. Currently, there is no US Food and Drug Administration-approved drug for these core symptoms. This article reviews the biological origins of the social function deficit associated with autism spectrum disorder and the drug therapies with the potential to treat this deficit. A review of the history of autism demonstrates that a deficit in social interaction has been the defining feature of the concept of autism from its conception. Abnormalities identified in early social skill development and an overview of the pathophysiology abnormalities associated with autism spectrum disorder are discussed as are the abnormalities in brain circuits associated with the social function deficit. Previous and ongoing clinical trials examining agents that have the potential to improve social deficits associated with autism spectrum disorder are discussed in detail. This discussion reveals that agents such as oxytocin and propranolol are particularly promising and undergoing active investigation, while other agents such as vasopressin agonists and antagonists are being activity investigated but have limited published evidence at this time. In addition, agents such as bumetanide and manipulation of the enteric microbiome using microbiota transfer therapy appear to have promising effects on core autism spectrum disorder symptoms including social function. Other pertinent issues associated with developing treatments in autism spectrum disorder, such as disease heterogeneity, high placebo response rates, trial design, and the most appropriate way of assessing effects on social skills (outcome measures), are also discussed.

PMID: 30105528 [PubMed – as supplied by publisher]

0 comments on “Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome.”

Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome.

Related Articles

Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome.

eNeuro. 2018 May-Jun;5(3):

Authors: Ash RT, Fahey PG, Park J, Zoghbi HY, Smirnakis SM

Abstract
MECP2 duplication syndrome is an X-linked form of syndromic autism caused by genomic duplication of the region encoding methyl-CpG-binding protein 2 (MECP2). Mice overexpressing MECP2 demonstrate social impairment, behavioral inflexibility, and altered patterns of learning and memory. Previous work showed abnormally increased stability of dendritic spines formed during motor training in the apical tuft of primary motor cortex (area M1) corticospinal neurons in the MECP2 duplication mouse model. In the current study, we measure the structural plasticity of axonal boutons in layer 5 pyramidal neuron projections to layer 1 of area M1 during motor training. In wild-type littermate control mice, we find that during rotarod training the bouton formation rate changes minimally, if at all, while the bouton elimination rate more than doubles. Notably, the observed upregulation in bouton elimination with training is absent in MECP2 duplication mice. This result provides further evidence of an imbalance between structural stability and plasticity in this form of syndromic autism. Furthermore, the observation that axonal bouton elimination more than doubles with motor training in wild-type animals contrasts with the increase of dendritic spine consolidation observed in corticospinal neurons at the same layer. This dissociation suggests that different area M1 microcircuits may manifest different patterns of structural synaptic plasticity during motor training.

PMID: 30105297 [PubMed – in process]

0 comments on “Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.”

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.

Related Articles

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.

J Pediatr Genet. 2018 Sep;7(3):114-116

Authors: Efthymiou S, Salpietro V, Bettencourt C, Houlden H

Abstract
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses.

PMID: 30105118 [PubMed]

0 comments on “Maturation of GABAergic Transmission in Cerebellar Purkinje Cells Is Sex Dependent and Altered in the Valproate Model of Autism.”

Maturation of GABAergic Transmission in Cerebellar Purkinje Cells Is Sex Dependent and Altered in the Valproate Model of Autism.

Related Articles

Maturation of GABAergic Transmission in Cerebellar Purkinje Cells Is Sex Dependent and Altered in the Valproate Model of Autism.

Front Cell Neurosci. 2018;12:232

Authors: Roux S, Lohof A, Ben-Ari Y, Poulain B, Bossu JL

Abstract
Brain development is accompanied by a shift in gamma-aminobutyric acid (GABA) response from depolarizing-excitatory to hyperpolarizing-inhibitory, due to a reduction of intracellular chloride concentration. This sequence is delayed in Autism Spectrum Disorders (ASD). We now report a similar alteration of this shift in the cerebellum, a structure implicated in ASD. Using single GABAA receptor channel recordings in cerebellar Purkinje cells (PCs), we found two conductance levels (18 and 10 pS), the former being dominant in newborns and the latter in young-adults. This conductance shift and the depolarizing/excitatory to hyperpolarizing/inhibitory GABA shift occurred 4 days later in females than males. Our data support a sex-dependent developmental shift of GABA conductance and chloride gradient, leading to different developmental timing in males and females. Because these developmental sequences are altered in ASD, this study further stresses the importance of developmental timing in pathological neurodevelopment.

PMID: 30104962 [PubMed]

0 comments on “Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice.”

Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice.

Related Articles

Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice.

Nat Neurosci. 2018 Aug 13;:

Authors: Jung H, Park H, Choi Y, Kang H, Lee E, Kweon H, Roh JD, Ellegood J, Choi W, Kang J, Rhim I, Choi SY, Bae M, Kim SG, Lee J, Chung C, Yoo T, Park H, Kim Y, Ha S, Um SM, Mo S, Kwon Y, Mah W, Bae YC, Kim H, Lerch JP, Paik SB, Kim E

Abstract
Autism spectrum disorders (ASDs) are four times more common in males than in females, but the underlying mechanisms are poorly understood. We characterized sexually dimorphic changes in mice carrying a heterozygous mutation in Chd8 (Chd8+/N2373K) that was first identified in human CHD8 (Asn2373LysfsX2), a strong ASD-risk gene that encodes a chromatin remodeler. Notably, although male mutant mice displayed a range of abnormal behaviors during pup, juvenile, and adult stages, including enhanced mother-seeking ultrasonic vocalization, enhanced attachment to reunited mothers, and isolation-induced self-grooming, their female counterparts do not. This behavioral divergence was associated with sexually dimorphic changes in neuronal activity, synaptic transmission, and transcriptomic profiles. Specifically, female mice displayed suppressed baseline neuronal excitation, enhanced inhibitory synaptic transmission and neuronal firing, and increased expression of genes associated with extracellular vesicles and the extracellular matrix. Our results suggest that a human CHD8 mutation leads to sexually dimorphic changes ranging from transcription to behavior in mice.

PMID: 30104731 [PubMed – as supplied by publisher]

0 comments on “Sex-specific impact of prenatal androgens on social brain default mode subsystems.”

Sex-specific impact of prenatal androgens on social brain default mode subsystems.

Related Articles

Sex-specific impact of prenatal androgens on social brain default mode subsystems.

Mol Psychiatry. 2018 Aug 13;:

Authors: Lombardo MV, Auyeung B, Pramparo T, Quartier A, Courraud J, Holt RJ, Waldman J, Ruigrok ANV, Mooney N, Bethlehem RAI, Lai MC, Kundu P, Bullmore ET, Mandel JL, Piton A, Baron-Cohen S

Abstract
Early-onset neurodevelopmental conditions (e.g., autism) affect males more frequently than females. Androgens may play a role in this male-bias by sex-differentially impacting early prenatal brain development, particularly neural circuits that later develop specialized roles in social cognition. Here, we find that increasing prenatal testosterone in humans is associated with later reduction of functional connectivity between social brain default mode (DMN) subsystems in adolescent males, but has no effect in females. Since testosterone can work directly via the androgen receptor (AR) or indirectly via the estrogen receptor through aromatase conversion to estradiol, we further examined how a potent non-aromatizable androgen, dihydrotestosterone (DHT), acts via the AR to influence gene expression in human neural stem cells (hNSC)-particularly for genes of high-relevance for DMN circuitry. DHT dysregulates a number of genes enriched for syndromic causes of autism and intellectual disability and for genes that in later development are expressed in anatomical patterns that highly correspond to the cortical midline DMN subsystem. DMN-related and DHT-affected genes (e.g., MEF2C) are involved in a number of synaptic processes, many of which impact excitation-inhibition balance. Androgens have male-specific prenatal influence over social brain circuitry in humans and may be relevant towards explaining some component of male-bias in early-onset neurodevelopmental conditions.

PMID: 30104728 [PubMed – as supplied by publisher]

0 comments on “PPARγ agonists: potential treatment for autism spectrum disorder by inhibiting the canonical WNT/β-catenin pathway.”

PPARγ agonists: potential treatment for autism spectrum disorder by inhibiting the canonical WNT/β-catenin pathway.

Related Articles

PPARγ agonists: potential treatment for autism spectrum disorder by inhibiting the canonical WNT/β-catenin pathway.

Mol Psychiatry. 2018 Aug 13;:

Authors: Vallée A, Vallée JN, Lecarpentier Y

Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by a deficit in social interactions and communication with repetitive and restrictive behavior. No curative treatments are available for ASD. Pharmacological treatments do not address the core ASD behaviors, but target comorbid symptoms. Dysregulation of the core neurodevelopmental pathways is associated with the clinical presentation of ASD, and the canonical WNT/β-catenin pathway is one of the major pathways involved. The canonical WNT/β-catenin pathway participates in the development of the central nervous system, and its dysregulation involves developmental cognitive disorders. In numerous tissues, the canonical WNT/β-catenin pathway and peroxisome proliferator-activated receptor gamma (PPARγ) act in an opposed manner. In ASD, the canonical WNT/β-catenin pathway is increased while PPARγ seems to be decreased. PPARγ agonists present a beneficial effect in treatment for ASD children through their anti-inflammatory role. Moreover, they induce the inhibition of the canonical WNT/β-catenin pathway in several pathophysiological states. We focus this review on the hypothesis of an opposed interplay between PPARγ and the canonical WNT/β-catenin pathway in ASD and the potential role of PPARγ agonists as treatment for ASD.

PMID: 30104725 [PubMed – as supplied by publisher]

0 comments on “Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations.”

Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations.

Related Articles

Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations.

Nat Commun. 2018 Aug 13;9(1):3225

Authors: Raman AT, Pohodich AE, Wan YW, Yalamanchili HK, Lowry WE, Zoghbi HY, Liu Z

Abstract
Recent studies have suggested that genes longer than 100 kb are more likely to be misregulated in neurological diseases associated with synaptic dysfunction, such as autism and Rett syndrome. These length-dependent transcriptional changes are modest in MeCP2-mutant samples, but, given the low sensitivity of high-throughput transcriptome profiling technology, here we re-evaluate the statistical significance of these results. We find that the apparent length-dependent trends previously observed in MeCP2 microarray and RNA-sequencing datasets disappear after estimating baseline variability from randomized control samples. This is particularly true for genes with low fold changes. We find no bias with NanoString technology, so this long gene bias seems to be particular to polymerase chain reaction amplification-based platforms. In contrast, authentic long gene effects, such as those caused by topoisomerase inhibition, can be detected even after adjustment for baseline variability. We conclude that accurate characterization of length-dependent (or other) trends requires establishing a baseline from randomized control samples.

PMID: 30104565 [PubMed – in process]

0 comments on “Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders.”

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders.

Related Articles

Sex: A Significant Risk Factor for Neurodevelopmental and Neurodegenerative Disorders.

Brain Sci. 2018 Aug 13;8(8):

Authors: Pinares-Garcia P, Stratikopoulos M, Zagato A, Loke H, Lee J

Abstract
Males and females sometimes significantly differ in their propensity to develop neurological disorders. Females suffer more from mood disorders such as depression and anxiety, whereas males are more susceptible to deficits in the dopamine system including Parkinson’s disease (PD), attention-deficit hyperactivity disorder (ADHD) and autism. Despite this, biological sex is rarely considered when making treatment decisions in neurological disorders. A better understanding of the molecular mechanism(s) underlying sex differences in the healthy and diseased brain will help to devise diagnostic and therapeutic strategies optimal for each sex. Thus, the aim of this review is to discuss the available evidence on sex differences in neuropsychiatric and neurodegenerative disorders regarding prevalence, progression, symptoms and response to therapy. We also discuss the sex-related factors such as gonadal sex hormones and sex chromosome genes and how these might help to explain some of the clinically observed sex differences in these disorders. In particular, we highlight the emerging role of the Y-chromosome gene, SRY, in the male brain and its potential role as a male-specific risk factor for disorders such as PD, autism, and ADHD in many individuals.

PMID: 30104506 [PubMed]

0 comments on “Prenatal Tetanus, Diphtheria, Acellular Pertussis Vaccination and Autism Spectrum Disorder.”

Prenatal Tetanus, Diphtheria, Acellular Pertussis Vaccination and Autism Spectrum Disorder.

Related Articles

Prenatal Tetanus, Diphtheria, Acellular Pertussis Vaccination and Autism Spectrum Disorder.

Pediatrics. 2018 Aug 13;:

Authors: Becerra-Culqui TA, Getahun D, Chiu V, Sy LS, Tseng HF

Abstract
: media-1vid110.1542/5803567555001PEDS-VA_2018-0120Video Abstract BACKGROUND: Increasing vaccination of pregnant women makes it important to assess safety events potentially linked to prenatal vaccination. This study investigates the association between prenatal tetanus, diphtheria, acellular pertussis (Tdap) vaccination and autism spectrum disorder (ASD) risk in offspring.
METHODS: This is a retrospective cohort study of mother-child pairs with deliveries January 1, 2011 to December 31, 2014 at Kaiser Permanente Southern California hospitals. Maternal Tdap vaccination from pregnancy start to delivery date was obtained from electronic medical records. A diagnosis of ASD was obtained by using International Classification of Diseases, Ninth and Tenth Revision codes. Children were managed from birth to first ASD diagnosis, end of membership, or end of follow-up (June 30, 2017). Cox proportional hazards models estimated the unadjusted and adjusted hazard ratios (HRs) for the association between maternal Tdap vaccination and ASD, with inverse probability of treatment weighting to adjust for confounding.
RESULTS: Women vaccinated were more likely to be Asian American or Pacific Islander, be nulliparous, have a higher education, receive influenza vaccination prenatally, and give birth at term. ASD was diagnosed in 1341 (1.6%) children, and the incidence rate was 3.78 per 1000 person years in the Tdap exposed and 4.05 per 1000 person years in the unexposed group (HR: 0.98, 95% confidence interval: 0.88-1.09). The inverse probability of treatment weighting-adjusted analyses revealed that prenatal Tdap vaccination was not associated with an increased ASD risk (HR: 0.85, 95% confidence interval: 0.77-0.95).
CONCLUSIONS: Prenatal Tdap vaccination was not associated with an increased ASD risk. We support recommendations to vaccinate pregnant women to protect infants, who are at highest risk of death after pertussis infection.

PMID: 30104424 [PubMed – as supplied by publisher]

0 comments on “A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome.”

A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome.

Related Articles

A transient developmental window of fast-spiking interneuron dysfunction in a mouse model of Dravet syndrome.

J Neurosci. 2018 Aug 13;:

Authors: Favero M, Sotuyo NP, Lopez E, Kearney JA, Goldberg EM

Abstract
Dravet syndrome is a severe childhood-onset epilepsy largely due to heterozygous loss-of-function mutation of the gene SCN1A, which encodes the type 1 neuronal voltage gated sodium (Na+) channel α subunit Nav1.1. Prior studies in mouse models of Dravet syndrome (Scn1a+/- mice) indicate that, in cerebral cortex, Nav1.1 is predominantly expressed in GABAergic interneurons, in particular in parvalbumin-positive fast-spiking basket cells (PVINs). This has led to a model of Dravet syndrome pathogenesis in which Nav1.1 mutation leads to preferential dysfunction of interneurons, decreased synaptic inhibition, hyperexcitability, and epilepsy. However, such studies have been implemented at early developmental time points. Here, we perform electrophysiological recordings in acute brain slices prepared from male and female Scn1a+/- mice as well as age-matched wild-type littermate controls and find that, later in developmental, excitability of PVINs has normalized. Analysis of action potential waveforms indirectly suggests a reorganization of axonal Na+ channels in PVINs from Scn1a+/- mice, a finding supported by immunohistochemical data showing elongation of the axon initial segment. Our results imply that transient impairment of action potential generation by PVINs may contribute to the initial appearance of epilepsy, but is not the mechanism of ongoing, chronic epilepsy, in Dravet syndrome.SIGNIFICANCE STATEMENTDravet syndrome is characterized by normal early development, temperature-sensitive seizures in infancy, progression to treatment-resistant epilepsy, developmental delay, autism, and sudden unexplained death, due to mutation in SCN1A encoding the Na+ channel subunit Nav1.1. Prior work has revealed a preferential impact of Nav1.1 loss on the function of GABAergic inhibitory interneurons. However, such data derives exclusively from recordings of neurons in young Scn1a+/- mice. Here, we show that impaired action potential generation observed in parvalbumin-positive fast-spiking interneurons (PVINs) in Scn1a+/- mice during early development has normalized by P35. This work suggests that a transient impairment of PVINs contributes to epilepsy onset, but is not the mechanism of ongoing, chronic epilepsy, in Dravet syndrome.

PMID: 30104343 [PubMed – as supplied by publisher]

0 comments on “Altered Gamma Oscillations during Motor Control in Children with Autism Spectrum Disorder.”

Altered Gamma Oscillations during Motor Control in Children with Autism Spectrum Disorder.

Related Articles

Altered Gamma Oscillations during Motor Control in Children with Autism Spectrum Disorder.

J Neurosci. 2018 Aug 13;:

Authors: An KM, Ikeda T, Yoshimura Y, Hasegawa C, Saito DN, Kumazaki H, Hirosawa T, Minabe Y, Kikuchi M

Abstract
Autism is hypothesized to result in a cortical excitatory and inhibitory imbalance driven by inhibitory interneuron dysfunction, which is associated with the generation of gamma oscillations. On the other hand, impaired motor control has been widely reported in autism. However, no study has focused on the gamma oscillations during motor control in autism. In the present study, we investigated the motor-related gamma oscillations in autism using magnetoencephalography. Magnetoencephalographic signals were recorded from 14 right-handed human children with autism (5 female), aged 5–7 years, and age- and IQ-matched 15 typically developing children during a motor task using their right index finger. Consistent with previous studies, the autism group showed a significantly longer button response time and reduced amplitude of motor-evoked magnetic fields. We observed that the autism group exhibited a low peak frequency of motor-related gamma oscillations from the contralateral primary motor cortex, and these were associated with the severity of autism symptoms. The autism group showed a reduced power of motor-related gamma oscillations in the bilateral primary motor cortex. A linear discriminant analysis using the button response time and gamma oscillations showed a high classification performance (86.2% accuracy). The alterations of the gamma oscillations in autism might reflect the cortical excitatory and inhibitory imbalance. Our findings provide an important clue into the behavioral and neurophysiological alterations in autism and a potential biomarker for autism.SIGNIFICANCE STATEMENTCurrently, the diagnosis of autism has been based on behavioral assessments, and a crucial issue in the diagnosis of autism is to identify objective and quantifiable clinical biomarkers. A key hypothesis of the neurophysiology of autism is an excitatory and inhibitory imbalance in the brain, which is associated with the generation of gamma oscillations. On the other hand, motor deficits have also been widely reported in autism. This is the first study to demonstrate low motor performance and altered motor-related gamma oscillations in autism, reflecting a brain excitatory and inhibitory imbalance. Using these behavioral and neurophysiological parameters, we classified autism and control group with good accuracy. This work provides important information on behavioral and neurophysiological alterations in patients with autism.

PMID: 30104338 [PubMed – as supplied by publisher]

0 comments on “The Potential of Repetitive Transcranial Magnetic Stimulation for Autism Spectrum Disorder: A Consensus Statement.”

The Potential of Repetitive Transcranial Magnetic Stimulation for Autism Spectrum Disorder: A Consensus Statement.

Related Articles

The Potential of Repetitive Transcranial Magnetic Stimulation for Autism Spectrum Disorder: A Consensus Statement.

Biol Psychiatry. 2018 Aug 10;:

Authors: Cole EJ, Enticott PG, Oberman LM, Gwynette MF, Casanova MF, Jackson SLJ, Jannati A, McPartland JC, Naples AJ, Puts NAJ, rTMS in ASD Consensus Group

PMID: 30103951 [PubMed – as supplied by publisher]

0 comments on “Prenatal influenza vaccination rescues impairments of social behavior and lamination in a mouse model of autism.”

Prenatal influenza vaccination rescues impairments of social behavior and lamination in a mouse model of autism.

Related Articles

Prenatal influenza vaccination rescues impairments of social behavior and lamination in a mouse model of autism.

J Neuroinflammation. 2018 Aug 13;15(1):228

Authors: Wu Y, Qi F, Song D, He Z, Zuo Z, Yang Y, Liu Q, Hu S, Wang X, Zheng X, Yang J, Yuan Q, Zou J, Guo K, Yao Z

Abstract
BACKGROUND: Prenatal infection is a substantial risk factor for neurodevelopmental disorders such as autism in offspring. We have previously reported that influenza vaccination (VAC) during early pregnancy contributes to neurogenesis and behavioral function in offspring.
RESULTS: Here, we probe the efficacy of VAC pretreatment on autism-like behaviors in a lipopolysaccharide (LPS)-induced maternal immune activation (MIA) mouse model. We show that VAC improves abnormal fetal brain cytoarchitecture and lamination, an effect associated with promotion of intermediate progenitor cell differentiation in MIA fetal brain. These beneficial effects are sufficient to prevent social deficits in adult MIA offspring. Furthermore, whole-genome analysis suggests a strong interaction between Ikzf1 (IKAROS family zinc-finger 1) and neuronal differentiation. Intriguingly, VAC rescues excessive microglial Ikzf1 expression and attenuates microglial inflammatory responses in the MIA fetal brain.
CONCLUSIONS: Our study implies that a preprocessed influenza vaccination prevents maternal bacterial infection from causing neocortical lamination impairments and autism-related behaviors in offspring.

PMID: 30103815 [PubMed – in process]

0 comments on “Are language features and emotional regulation related with maternal depression in autism and language delay?”

Are language features and emotional regulation related with maternal depression in autism and language delay?

Are language features and emotional regulation related with maternal depression in autism and language delay?

Pediatr Int. 2018 Aug 13;:

Authors: Özyurt G, Dinsever C, Tufan AE, Baykara B

Abstract
OBJECTIVE: Language and communication is very important in social, emotional and cognitive development of children. Delay in language is usually the first complaint for children diagnosed with autism spectrum disorder (ASD) or developmental language delays (DLDs). This study evaluated language features and emotional regulation skills of children diagnosed with ASD and DLDs and their relationships with maternal depression levels METHOD: The sample included children aged 24- 54 months diagnosed with ASD (n=31), or with DLDs (n=45) and 52 healthy controls. The Test of Early Language Development (TELD-3) was used to evaluate language profiles and the Beck Depression Inventory (BDI) was used to examine maternal depression. Children’s emotion regulation skills were evaluated with Emotion Regulation Checklist.
RESULTS: As a result it was found that children with DLDs had significantly higher developmental ages, were linguistically more developed and had better emotion regulation compared to the ASD group. All domains of language in TELD-3 except expressive syntax were more developed in DLD. Maternal BDI scores did not differ significantly between DLDs and ASD. Both of these disorders were not related with maternal depression.
CONCLUSION: In this study; it was found that children with DLDs were less impaired than children with ASDs both in terms of language and emotion regulation areas. This article is protected by copyright. All rights reserved.

PMID: 30103292 [PubMed – as supplied by publisher]

0 comments on “l-Dopa treatment during perinatal development leads to different behavioral alterations in female vs. male juvenile Swiss mice.”

l-Dopa treatment during perinatal development leads to different behavioral alterations in female vs. male juvenile Swiss mice.

l-Dopa treatment during perinatal development leads to different behavioral alterations in female vs. male juvenile Swiss mice.

Pharmacol Biochem Behav. 2018 Aug 10;:

Authors: de Matos LO, de Araujo Lima Reis AL, Guerra LTL, de Oliveira Guarnieri L, Moraes MA, Aquino NSS, Szawka RE, Pereira GS, Souza BR

Abstract
Alterations in dopaminergic signaling and neurodevelopment are associated with many neuropsychiatric disorders, such as attention deficit and hyperactivity disorder (ADHD), autism, and schizophrenia. Imbalances in dopamine levels during prenatal development are associated with behavioral alterations later in life, like hyperactivity and addiction, and it is possible that dopaminergic imbalances may have diverse effects during different neurodevelopmental windows. In this study, we investigate whether an increase in dopamine levels during the perinatal developmental window affects behavior of juvenile male and female Swiss mice. In order to do so, we intraperitoneally administered daily doses of l-Dopa to mice pups beginning from postnatal day 1 (PD1) to PD5, which increased the levels of dopamine and its metabolite, 3,4-dihydroxyphenylacetic acid (DOPAC), in the striatum of the pups. At the age of 4 weeks, we submitted the juvenile males and females to the open field test, elevated plus maze, forced swimming test, and sucrose preference test. We observed that increase of dopamine levels during the perinatal developmental window increased exploratory behavior in juvenile females, but not males. We observed no changes in anxiety- and depressive-like behaviors. In contrast, we observed that increased dopamine levels during the perinatal period lead to hedonic alterations in juvenile males, but not females. Our results show that dopamine signaling is important for behavioral development and that transient imbalance of dopamine levels causes juvenile behavioral alterations, which are different in males than in females. These data may help in better understanding the spectrum of symptoms associated with different neuropsychiatric disorders.

PMID: 30102946 [PubMed – as supplied by publisher]

0 comments on “Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.”

Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.

Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.

Turk J Pediatr. 2018;60(1):94-98

Authors: Tuğ E, Ergün MA, Perçin EF

Abstract
Tuğ E, Ergün MA, Perçin EF. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region. Turk J Pediatr 2018; 60: 94-98. We report on a case with developmental delay and dysmorphic craniofacial features, and a novel~15.2 Mb interstitial deletion within 9q21.11q21.32 confirmed with array comparative genomic hybridization (aCGH). A twenty-two month old boy with inability to walk without support, absent speech, and attention deficit and hyperactivity disorder was seen in our clinic. His craniofacial examination revealed relative macrocephaly, facial asymmetry, frontal bossing, sparse medial eyebrows, hypertelorism, broad base to nose, smooth philtrum, large mouth, operated cleft lip and wide spaced teeth. The high resolution binding (HRB) chromosome analysis revealed an interstitial deletion 46,XY,del(9)(q21) confirmed by aCGH revealing; 46,XY,der(9)(pter→q21.11::q21.32→qter).arr9q21.11q21.32(71,069,763-86,333,272)X1dn. Genotype-phenotype correlations of sixteen cases with 9q21 deletion having different breakpoints and variable length revealed common characteristic features including severe developmental delay, epilepsy, neuro-behavioural disorders and facial dysmorphism including hypertelorism, smooth philtrum and thin upper lip. The smallest overlapping deleted region in all defined cases to date including our case comprised four genes. Among these deleted genes as in our case, especially RORB is considered to be a strong candidate for neurological phenotype.

PMID: 30102487 [PubMed – in process]

0 comments on “Using antipsychotics for behavioral problems in children.”

Using antipsychotics for behavioral problems in children.

Using antipsychotics for behavioral problems in children.

Expert Opin Pharmacother. 2018 Aug 13;:1-14

Authors: Shafiq S, Pringsheim T

Abstract
INTRODUCTION: Antipsychotic use in children has increased over the past two decades. Randomized controlled trials have evaluated the efficacy of antipsychotics in autism spectrum disorder (ASD) and disruptive behavior disorders (DBD). Areas covered: The authors systematically analyze the results of randomized controlled trials of second and third generation antipsychotics for irritability in ASD and aggressive and disruptive behavior in DBD with or without low IQ and ADHD. The aim of the review is to assist healthcare professionals to optimize therapy in this population. Expert opinion: There is evidence to support the short-term efficacy of risperidone and aripiprazole for irritability in ASD, and short-term efficacy of risperidone for aggressive and disruptive behavior in DBD, although the benefits are closely balanced with an increased risk of metabolic, hormonal and extrapyramidal adverse effects. The use of antipsychotics in children with these disorders should be reserved for those refractory to first and second-line therapies, and in whom there is a persistent and serious risk of harm to self or others. Antipsychotics should be considered a short-term strategy while psychosocial and behavioral therapies are continuously employed.

PMID: 30102079 [PubMed – as supplied by publisher]

0 comments on “Early life influences on child weight outcomes in the Study to Explore Early Development.”

Early life influences on child weight outcomes in the Study to Explore Early Development.

Early life influences on child weight outcomes in the Study to Explore Early Development.

Autism. 2018 Aug 13;:1362361318791545

Authors: Kral TV, Chittams J, Bradley CB, Daniels JL, DiGuiseppi CG, Johnson SL, Pandey J, Pinto-Martin JA, Rahai N, Ramirez A, Schieve LA, Thompson A, Windham G, York W, Young L, Levy SE

Abstract
We examined associations between child body mass index at 2-5 years and maternal pre-pregnancy body mass index, gestational weight gain, and rapid weight gain during infancy in children with autism spectrum disorder, developmental delays, or population controls. The Study to Explore Early Development is a multi-site case-control study of children, aged 2-5 years, classified as autism spectrum disorder ( n = 668), developmental delays ( n = 914), or population controls ( n = 884). Maternal gestational weight gain was compared to the Institute of Medicine recommendations. Rapid weight gain was a change in weight-for-age z-scores from birth to 6 months > 0.67 standard deviations. After adjusting for case status, mothers with pre-pregnancy overweight/obesity were 2.38 times (95% confidence interval: 1.96-2.90) more likely, and mothers who exceeded gestational weight gain recommendations were 1.48 times (95% confidence interval: 1.17-1.87) more likely, to have an overweight/obese child than other mothers ( P < 0.001). Children with autism spectrum disorder showed the highest frequency of rapid weight gain (44%) and were 3.47 times (95% confidence interval: 1.85-6.51) more likely to be overweight/obese as children with autism spectrum disorder without rapid weight gain ( P < 0.001). Helping mothers achieve a healthy pre-pregnancy body mass index and gestational weight gain represent important targets for all children. Healthy infant growth patterns carry special importance for children at increased risk for an autism spectrum disorder diagnosis.

PMID: 30102071 [PubMed – as supplied by publisher]

0 comments on “Interoceptive impairments do not lie at the heart of autism or alexithymia.”

Interoceptive impairments do not lie at the heart of autism or alexithymia.

Interoceptive impairments do not lie at the heart of autism or alexithymia.

J Abnorm Psychol. 2018 Aug;127(6):612-622

Authors: Nicholson TM, Williams DM, Grainger C, Christensen JF, Calvo-Merino B, Gaigg SB

Abstract
Quattrocki and Friston (2014) argued that abnormalities in interoception-the process of representing one’s internal physiological states-could lie at the heart of autism, because of the critical role interoception plays in the ontogeny of social-affective processes. This proposal drew criticism from proponents of the alexithymia hypothesis, who argue that social-affective and underlying interoceptive impairments are not a feature of autism per se, but of alexithymia (a condition characterized by difficulties describing and identifying one’s own emotions), which commonly co-occurs with autism. Despite the importance of this debate for our understanding of autism spectrum disorder (ASD), and of the role of interoceptive impairments in psychopathology, more generally, direct empirical evidence is scarce and inconsistent. Experiment 1 examined in a sample of 137 neurotypical (NT) individuals the association among autistic traits, alexithymia, and interoceptive accuracy (IA) on a standard heartbeat-tracking measure of IA. In Experiment 2, IA was assessed in 46 adults with ASD (27 of whom had clinically significant alexithymia) and 48 NT adults. Experiment 1 confirmed strong associations between autistic traits and alexithymia, but yielded no evidence to suggest that either was associated with interoceptive difficulties. Similarly, Experiment 2 provided no evidence for interoceptive impairments in autistic adults, irrespective of any co-occurring alexithymia. Bayesian analyses consistently supported the null hypothesis. The observations pose a significant challenge to notions that interoceptive impairments constitute a core feature of either ASD or alexithymia, at least as far as the direct perception of interoceptive signals is concerned. (PsycINFO Database Record

PMID: 30102067 [PubMed – in process]

0 comments on “Predicting reading comprehension in young children with autism spectrum disorder.”

Predicting reading comprehension in young children with autism spectrum disorder.

Predicting reading comprehension in young children with autism spectrum disorder.

Sch Psychol Q. 2018 Aug 13;:

Authors: Knight E, Blacher J, Eisenhower A

Abstract
Relationships between early literacy measures (i.e., curriculum-based measurement) and advanced literacy measures (i.e., reading comprehension) were examined in young children with autism spectrum disorders (ASDs). Participants in this study were 167 children between the ages of 4 and 7 years (M = 5 years 8 months), who were assessed at 2 time points during 1 school year. Results indicated that, compared to other measures of early literacy skills, curriculum-based measurements (CBMs) accurately assessed skills in students with ASD. Furthermore, early literacy skills predicted reading comprehension approximately six months later in this sample. The reading development of children with ASD compared to typically developing children appears to be similar in the predictive capacity of decoding skills on later reading skills and dissimilar in the variability and range of skills. CBM tools can provide educators with information about the early reading skills of children with ASD to help address reading and language difficulties seen in this population. (PsycINFO Database Record

PMID: 30102056 [PubMed – as supplied by publisher]

0 comments on “Prevalence of overweight and obesity among US youth with autism spectrum disorder.”

Prevalence of overweight and obesity among US youth with autism spectrum disorder.

Prevalence of overweight and obesity among US youth with autism spectrum disorder.

Autism. 2018 Aug 13;:1362361318791817

Authors: Healy S, Aigner CJ, Haegele JA

Abstract
The purpose of this study was to examine current overweight and obesity prevalence rates among US youth (aged 10-17 years) with and without autism spectrum disorder, based on the 2016 National Survey of Children’s Health. Analyses of weight status, derived from parent-reported height and weight measures, were conducted for a weighted sample of 875,963 youth with autism spectrum disorder and 31,913,657 typically developing youth. Controlling for age, race/ethnicity, income, and sex, youth with autism spectrum disorder had significantly higher odds of overweight (odds ratio = 1.48, p = 0.04) and obesity (odds ratio = 1.49, p = 0.02) compared to typically developing youth. Among youth with autism spectrum disorder, 19.4% were overweight and 23.05% were obese. Among typically developing youth, 14.9% were overweight and 15.91% were obese. Higher odds of obesity were reported for youth with severe autism spectrum disorder (odds ratio = 3.35, p < 0.01), compared to those with mild autism spectrum disorder.

PMID: 30101597 [PubMed – as supplied by publisher]

0 comments on “Object personification in autism: This paper will be very sad if you don’t read it.”

Object personification in autism: This paper will be very sad if you don’t read it.

Object personification in autism: This paper will be very sad if you don’t read it.

Autism. 2018 Aug 11;:1362361318793408

Authors: White RC, Remington A

Abstract
Object personification is the attribution of human characteristics to non-human agents. In online forums, autistic individuals commonly report experiencing this phenomenon. Given that approximately half of all autistic individuals experience difficulties identifying their own emotions, the suggestion that object personification may be a feature of autism seems almost paradoxical. Why would a person experience sympathy for objects, when they struggle to understand and verbalise the emotions of other people as well as their own? An online survey was used to assess tendency for personification in 87 autistic and 263 non-autistic adults. Together, our results indicate that object personification occurs commonly among autistic individuals, and perhaps more often (and later in life) than in the general population. Given that in many cases, autistic people report their personification experiences as distressing, it is important to consider the reasons for the increased personification and identify structures for support.

PMID: 30101594 [PubMed – as supplied by publisher]

0 comments on “Comparing differences in support needs as perceived by parents of adult offspring with down syndrome, autism spectrum disorder and cerebral palsy.”

Comparing differences in support needs as perceived by parents of adult offspring with down syndrome, autism spectrum disorder and cerebral palsy.

Related Articles

Comparing differences in support needs as perceived by parents of adult offspring with down syndrome, autism spectrum disorder and cerebral palsy.

J Appl Res Intellect Disabil. 2018 Aug 12;:

Authors: Lee CE, Burke MM, Arnold CK, Owen A

Abstract
BACKGROUND: Parents often face many barriers when taking care of their offspring with disabilities. In childhood, support needs vary with families of children with Down syndrome often reporting less caregiving challenges. However, it is unclear whether support needs vary in adulthood. This study compared parents of adults with Down syndrome (DS), autism spectrum disorder (ASD) and cerebral palsy (CP) regarding support needs of their offspring with intellectual and developmental disabilities (IDD) and their families.
METHOD: Data were collected via a national survey in the United States with 189 parents of adults with IDD.
RESULTS: Across the quantitative and qualitative analyses, parents of adults with DS (versus CP and ASD) reported significantly greater recreational, natural supports, more formal services and less future planning barriers.
CONCLUSION: The results indicate that the DS advantage may persist in adulthood regarding support needs. More research is needed to understand different types of support needs.

PMID: 30101573 [PubMed – as supplied by publisher]

0 comments on “The other side of the coin: hypersociability.”

The other side of the coin: hypersociability.

Related Articles

The other side of the coin: hypersociability.

Genes Brain Behav. 2018 Aug 13;:e12512

Authors: Toth M

Abstract
Affiliative social motivation and behavior, i.e. sociability that includes attachment, prosocial behavior (sharing, caring, and helping), and empathy (the ability to understand and share the feelings of others), has high variability in the human population, with a portion of people outside of the normal range. While psychiatric disorders and autism spectrum disorders are typically associated with a deficit in social behavior, the opposite trait of hypersociability and indiscriminate friendliness are exhibited by individual with specific neurodevelopmental disorders and following early adverse care. Here we discuss both genetic and environmental factors that cause or increase the risk for developing pathological hypersociability from human to rodent models.

PMID: 30101538 [PubMed – as supplied by publisher]

0 comments on “Autism spectrum disorder symptoms from ages 2 to 19 years: Implications for diagnosing adolescents and young adults.”

Autism spectrum disorder symptoms from ages 2 to 19 years: Implications for diagnosing adolescents and young adults.

Related Articles

Autism spectrum disorder symptoms from ages 2 to 19 years: Implications for diagnosing adolescents and young adults.

Autism Res. 2018 Aug 12;:

Authors: Bal VH, Kim SH, Fok M, Lord C

Abstract
This study explored change in social-communicative symptoms in 140 individuals with childhood autism spectrum disorder (ASD) diagnoses. Trajectories of caregiver-reported social-communicative symptoms were examined for three groups (verbal, delayed speech, minimally verbal) from ages 2 to 19 years. Groups showed comparable levels of social-communicative impairment at 2 years and significant decreases in overall symptom levels across the 17-year period (P < .001). Across three subdomains, main effects of time and language (P < .001) reflected patterns of overall improvement, although children with more impaired language tended to have more caregiver-reported symptoms relative to verbal peers. A significant time-by-language interaction (P < .001) reflected that trajectories of socioemotional reciprocity symptoms differed according to patterns of language development. In contrast, improvements in the nonverbal communication domain were seen across language groups, whereas deficits in the development and maintenance of relationships improved for only verbal children. Verbal adults showed significant reductions in the prevalence of kseveral symptoms exhibited during childhood. Improvements suggest that symptoms indicative of ASD in young children may no longer be diagnostic markers in adolescents and adults. Relative stability of several items suggests that impaired facial expression may be a core ASD symptom that warrants more systematic study across the lifespan. Research investigating the manifestation of ASD in older individuals is needed to foster development of appropriate assessment tools and interventions. Differential relationships to developmental factors within the broader social-communication domain underscores a need to focus on more narrowly defined symptom constructs when exploring links between pathophysiology and observable phenotypes.
LAY SUMMARY: In a sample of 140 participants with autism spectrum disorder (ASD) followed from 2 to 19 years old, this study found that overall social-communicative symptoms improve across childhood and adolescence. However, timing and amount of change varied for different symptom categories and participants with different language abilities. Findings suggest that some older adolescents and adults with ASD may not exhibit the same difficulties observed in young children with ASD. More research is needed to better understand the strengths and needs of young adults with ASD.

PMID: 30101492 [PubMed – as supplied by publisher]

0 comments on “The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders.”

The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders.

Related Articles

The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders.

Clin Pharmacol Ther. 2018 Aug 12;:

Authors: Modi ME, Sahin M

Abstract
Rare genetically defined neurodevelopmental disorders with increased risk of autism have recently become an entry point for autism-related drug discovery. Through exploration of downstream effects of the pathological mutations, specific mechanistic pathways have been identified as dysregulated. The identification of shared mechanisms across forms of autism opens the door for the development of novel “mechanism-based therapeutics.” However, confidence in the therapeutic mechanism does not diminish the need for well-designed clinical trials.

PMID: 30101418 [PubMed – as supplied by publisher]

0 comments on “Parent Training for Feeding Problems in Children With Autism Spectrum Disorder: Initial Randomized Trial.”

Parent Training for Feeding Problems in Children With Autism Spectrum Disorder: Initial Randomized Trial.

Related Articles

Parent Training for Feeding Problems in Children With Autism Spectrum Disorder: Initial Randomized Trial.

J Pediatr Psychol. 2018 Aug 07;:

Authors: Johnson CR, Brown K, Hyman SL, Brooks MM, Aponte C, Levato L, Schmidt B, Evans V, Huo Z, Bendixen R, Eng H, Sax T, Smith T

Abstract
Objective: Many children with autism spectrum disorder (ASD) have feeding and mealtime problems. To address these, we conducted a pilot randomized trial of a new 11-session, individually delivered parent training program that integrated behavioral strategies and nutritional guidance (PT-F).
Methods: Forty-two young children (age: 2 to 7-11 years) with ASD and feeding problems were assigned to 11 sessions of PT-F intervention over 20 weeks or a waitlist control. Outcomes included attendance, parent satisfaction, therapist fidelity, and preliminary assessments of child and parent outcomes.
Results: Of the 21 PT-F families, attendance was high (85%) as was parent satisfaction (94% would recommend to others). Treatment fidelity was also high (97%-therapist integrity; 94%-parent adherence). Compared with waitlist, children whose parents participated in PT-F showed significantly greater reductions on the two parent-completed primary outcomes (Brief Autism Mealtime Behavior Inventory-Revised; Twald = -2.79; p = .003; About Your Child’s Eating; Twald = -3.58; p = .001). On the independent evaluator-completed secondary eating outcome, the Clinical Global Impression-Improvement, 48.8% of the participants in PT-F were rated as “responders” compared with 0% in waitlist (p = .006). General child disruptive behavior outcomes decreased more in PT-F but not significantly. Parent outcomes of caregiver stress showed nonsignificant trends favoring PT-F with moderate to small effect sizes.
Conclusions: This trial provides evidence for feasibility, satisfaction, and fidelity of implementation of PT-F for feeding problems in young children with ASD. Feeding outcomes also appeared favorable and lends support for conducting a larger efficacy trial.

PMID: 30101320 [PubMed – as supplied by publisher]