Pubmed du 04/03/17

Pubmed du jour

2017-03-04 12:03:50

1. Alvarez-Fernandez S, Brown HR, Zhao Y, Raithel JA, Bishop SL, Kern SB, Lord C, Petkova E, Di Martino A. {{Perceived social support in adults with autism spectrum disorder and attention-deficit/hyperactivity disorder}}. {Autism Res};2017 (Mar 03)

Perceived social support (PSS) has been related to physical and mental well-being in typically developing individuals, but systematic characterizations of PSS in autism spectrum disorder (ASD) are limited. We compared self-report ratings of the multidimensional scale of PSS (MSPSS) among age- and IQ-matched groups of adults (18-58 years) with cognitively high-functioning ASD (N = 41), or attention-deficit/hyperactivity disorder (ADHD; N = 69), and neurotypical controls (NC; N = 69). Accompanying group comparisons, we used machine learning random forest (RF) analyses to explore predictors among a range of psychopathological and socio-emotional variables. Relative to both ADHD and NC, adults with ASD showed lower MSPSS ratings, specifically for the friends subscale (MSPSS-f). Across ASD and ADHD, interindividual differences in autism severity, affective empathy, symptoms of anxiety related to social interactions, hyperactivity/impulsivity, and somatization best predicted MSPSS-f. These relationships did not differ between clinical groups. While group comparisons demonstrated greater impairment in individuals with ASD, analyzing individuals’ characteristics revealed cross-diagnoses similarities in regard to their MSPSS-f relationships. This is consistent with the Research Domain Criteria framework, supporting a trans-diagnostic approach as on the path toward « precision medicine. » Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.

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2. Baixauli-Fortea I, Rosello-Miranda B, Berenguer-Forner C, Colomer-Diago C, Grau-Sevilla MD. {{[Interventions to promote social communication in children with autism spectrum disorders]}}. {Rev Neurol};2017 (Feb 24);64(s01):S39-s44.

INTRODUCTION: The difficulties encountered when it comes to social communication are one of the core disorders experienced by persons with autism spectrum disorders (ASD). This problem leads to feelings of loneliness and social exclusion, which negatively affect the quality of life. AIMS: To review the characteristics of the main interventions in this field in high-functioning ASD. DEVELOPMENT: Strategies employed include social stories, comic-strip conversations or videomodelling, and interventions mediated by peers and multicomponent treatments. CONCLUSIONS: The design of the programmes used today has evolved towards more ecological approaches that take the family, teachers and companions into account in the treatment. The most recent literature reviews have found evidence of significant improvements following their implementation, which has been reflected in better social competence and lesser feelings of loneliness. The social communication intervention must combine individualised instruction with consideration of the child’s environment and the motivation towards communicative interaction.

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3. Ben-Shalom R, Keeshen CM, Berrios KN, An JY, Sanders SJ, Bender KJ. {{Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures}}. {Biol Psychiatry};2017 (Jan 27)

BACKGROUND: Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel NaV1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay, and infantile seizures. Variants observed in infantile seizures are predominantly missense, leading to a gain of function and increased neuronal excitability. How variants associated with ASD affect NaV1.2 function and neuronal excitability are unclear. METHODS: We examined the properties of 11 ASD-associated SCN2A variants in heterologous expression systems using whole-cell voltage-clamp electrophysiology and immunohistochemistry. Resultant data were incorporated into computational models of developing and mature cortical pyramidal cells that express NaV1.2. RESULTS: In contrast to gain of function variants that contribute to seizure, we found that all ASD-associated variants dampened or eliminated channel function. Incorporating these electrophysiological results into a compartmental model of developing excitatory neurons demonstrated that all ASD variants, regardless of their mechanism of action, resulted in deficits in neuronal excitability. Corresponding analysis of mature neurons predicted minimal change in neuronal excitability. CONCLUSIONS: This functional characterization thus identifies SCN2A mutation and NaV1.2 dysfunction as the most frequently observed ASD risk factor detectable by exome sequencing and suggests that associated changes in neuronal excitability, particularly in developing neurons, may contribute to ASD etiology.

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4. Bishop SL, Farmer C, Bal V, Robinson EB, Willsey AJ, Werling DM, Havdahl KA, Sanders SJ, Thurm A. {{Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder}}. {Am J Psychiatry};2017 (Mar 03):appiajp201716101115.

OBJECTIVE: Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci. METHOD: Analyses preemptively accounted for documented differences in sex and IQ in affected individuals with de novo mutations by matching probands with and without these genetic events on sex, IQ, and age before comparing them on multiple behavioral domains. RESULTS: Children with de novo mutations (N=112) had a greater likelihood of motor delay during early development (later age at walking), but they were less impaired on certain measures of ASD core symptoms (parent-rated social communication abnormalities and clinician-rated diagnostic certainty about ASD) in later childhood. These children also showed relative strengths in verbal and language abilities, including a smaller discrepancy between nonverbal and verbal IQ and a greater likelihood of having achieved fluent language (i.e., regular use of complex sentences). CONCLUSIONS: Children with ASD with de novo mutations may exhibit a « muted » symptom profile with respect to social communication and language deficits relative to those with ASD with no identified genetic abnormalities. Such findings suggest that examining early milestone differences and standardized testing results may be helpful in etiologic efforts, and potentially in clinical differentiation of various subtypes of ASD, but only if developmental and demographic variables are properly accounted for first.

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5. Bonnet-Brilhault F. {{[Autism: An early neurodevelopmental disorder]}}. {Arch Pediatr};2017 (Feb 27)

With approximately 67 million individuals affected worldwide, autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder (United Nations, 2011), with a prevalence estimated to be 1/100. In France ASD affects approximately 600,000 individuals (from childhood to adulthood, half of whom are also mentally retarded), who thus have a major handicap in communication and in adapting to daily life, which leads autism to be recognized as a national public health priority. ASD is a neurodevelopmental disorder that affects several domains (i.e., socio-emotional, language, sensori-motor, executive functioning). These disorders are expressed early in life with an age of onset around 18 months. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. The clinical picture is characterized by impairments in social interaction and communication and the presence of restrictive and repetitive behaviors (DSM-5, ICD-10). However, in addition to these two main dimensions there is significant comorbidity between ASD and other neurodevelopmental disorders such as attention deficit hyperactivity disorder or with genetic and medical conditions. One of the diagnostic features of ASD is its early emergence: symptoms must begin in early childhood for a diagnosis to be given. Due to brain plasticity, early interventions are essential to facilitate clinical improvement. Therefore, general practitioners and pediatricians are on the front line to detect early signs of ASD and to guide both medical explorations and early rehabilitation.

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6. Burrows EL, Eastwood AF, May C, Kolbe SC, Hill T, McLachlan NM, Churilov L, Hannan AJ. {{Social Isolation Alters Social and Mating Behavior in the R451C Neuroligin Mouse Model of Autism}}. {Neural Plast};2017;2017:8361290.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder typified by impaired social communication and restrictive and repetitive behaviors. Mice serve as an ideal candidate organism for studying the neural mechanisms that subserve these symptoms. The Neuroligin-3 (NL3) mouse, expressing a R451C mutation discovered in two Swedish brothers with ASD, exhibits impaired social interactions and heightened aggressive behavior towards male mice. Social interactions with female mice have not been characterized and in the present study were assessed in male NL3R451C and WT mice. Mice were housed in social and isolation conditions to test for isolation-induced increases in social interaction. Tests were repeated to investigate potential differences in interaction in naive and experienced mice. We identified heightened interest in mating and atypical aggressive behavior in NL3R451C mice. NL3R451C mice exhibited normal social interaction with WT females, indicating that abnormal aggressive behavior towards females is not due to altered motivation to engage. Social isolation rearing heightened interest in social behavior in all mice. Isolation housing selectively modulated the response to female pheromones in NL3R451C mice. This study is the first to show altered mating behavior in the NL3R451C mouse and has provided new insights into the aggressive phenotype in this model.

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7. Chen CP, Lin SP, Lee CL, Chern SR, Wu PS, Chen YN, Chen SW, Wang W. {{Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder}}. {Taiwan J Obstet Gynecol};2017 (Feb);56(1):98-101.

OBJECTIVE: We present recurrent 2q13 microduplication in a family with autism spectrum disorder (ASD), intellectual disability, and liver disorder. CASE REPORT: A 45-year-old woman and her 52-year-old husband were referred for genetic counseling because of mental and liver disorders in their two sons and their planning for prenatal diagnosis of familial disorders in the future pregnancy. She and her husband were normal and healthy, but their 21-year-old elder son had suffered from ASD, severe intellectual disability, poor motor function, liver cirrhosis, and esophageal varices, and their 19-year-old younger son had suffered from ASD, mild intellectual disability, poor balance and coordination, hepatosplenomegaly, fatty liver, and mild liver cirrhosis. The karyotypes of the parents and sons were normal. Array comparative genomic hybridization of the family revealed a 686.5-kb 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 in the elder brother, a 658.9-kb 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 in the younger brother, and an 83.83-kb 2q13 microduplication encompassing NPHP1 in the asymptomatic father. CONCLUSION: Recurrent phenotypic abnormality in the family with normal karyotype should include a differential diagnosis of pathogenic copy-number variations.

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8. Cuomo BM, Vaz S, Lee EA, Thompson C, Rogerson JM, Falkmer T. {{Effectiveness of Sleep-Based Interventions for Children with Autism Spectrum Disorder: A Meta-synthesis}}. {Pharmacotherapy};2017 (Mar 04)

Sleep problems are common in children with autism spectrum disorder (ASD). This meta-synthesis collated eight previously published systematic reviews examining the efficacy of sleep interventions in children with ASD in an attempt to present a clear analysis of trialed interventions. The collated reviews consider five major groups of sleep interventions for children with ASD: melatonin therapy, pharmacologic treatments other than melatonin, behavioral interventions, parent education/education programs, and alternative therapies (massage therapy, aromatherapy, and multivitamin and iron supplementation). These eight reviews were based on 38 original studies and address the efficacy of interventions across 17 sleep problem domains. The results of this meta-synthesis suggest that no single intervention is effective across all sleep problems in children with ASD. However, melatonin, behavioral interventions, and parent education/education program interventions appear the most effective at ameliorating multiple domains of sleep problems compared with other interventions. Due to the heterogeneous causative factors and presentations of disordered sleep, further research into the effectiveness of sleep interventions may target specific phenotypic subgroups rather than a broad analysis across the general ASD population. Similarly, future research needs to consider the efficacy of different polytherapeutic approaches in order to provide clinicians with evidence to inform best practice. In the meantime, this review supports clinicians’ decision making for a majority of the identified sleep problems in the ASD population. This article is protected by copyright. All rights reserved.

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9. Delgado CF, Ullery MA, Jordan M, Duclos C, Rajagopalan S, Scott K. {{Lead Exposure and Developmental Disabilities in Preschool-Aged Children}}. {J Public Health Manag Pract};2017 (Mar 01)

CONTEXT: Lead is a preventable environmental toxin that has been previously associated with deficits in cognition, academic performance, attention, and behavior in children. Very few studies, however, have examined the relationship between exposure to lead and documented developmental disabilities. OBJECTIVE: This study examined the relative risk of lead exposure on developmental disabilities in preschool-aged children. DESIGN: A statewide lead surveillance data set containing blood lead level (BLL) was integrated with another statewide data set containing developmental disability classifications for special education placement for preschool-aged children. PARTICIPANTS: The participants were the 85 178 children (average age 2.6 years) whose records in both data sets were able to be linked. Forty-six percent of the participants had an identified developmental disability. MAIN OUTCOME MEASURE: Developmental disability classification served as the main outcome measure. RESULTS: A high BLL, defined as 5 mug/dL or more, was associated with significantly increased risk for developmental disabilities (risk ratio [RR] = 1.04; 95% CI = 1.01-1.08), particularly intellectual disability (RR = 1.58, 95% CI = 1.10-2.25) and developmental delay (DD; RR = 1.11, 95% CI = 1.06-1.17). CONCLUSIONS: The results of this study are consistent with previous research identifying an association between lead exposure and numerous intellectual and educational outcomes and demonstrate that high BLL is associated with meeting eligibility criteria for developmental disabilities in young children. Continued research, surveillance, and prevention efforts are needed to further reduce the negative impacts of lead on individuals and society. Reducing or eliminating lead exposure would improve outcomes for individual children (eg, better academic performance) and reduce the burden to society (eg, lower enrollments in special education systems).

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10. Elias R, White SW. {{Autism Goes to College: Understanding the Needs of a Student Population on the Rise}}. {J Autism Dev Disord};2017 (Mar 02)

Understanding the needs of adolescents and emerging adults with Autism Spectrum Disorder (ASD) with respect to transition to postsecondary education is critical to development of user-informed transition programming. Parents of adolescents and emerging adults with ASD (n = 52) and ADHD (n = 47) completed an online survey. Social interaction training and independent living training were services frequently requested by parents in the ASD group. Additionally, parents of postsecondary students with ASD endorsed distinct challenges with self-advocacy, managing emotions, and managing personal/adaptive skills relative to postsecondary students with ADHD. The profile of parent-reported difficulties and needed services compared to transition to postsecondary education for students with ASD is distinguishable from that for ADHD, suggesting individualized transition planning and in-college supports.

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11. Forment-Dasca C. {{[Models for intervention in autism spectrum disorders: Denver and SCERTS]}}. {Rev Neurol};2017 (Feb 24);64(s01):S33-s37.

INTRODUCTION: Given the increased prevalence of diagnoses of autism in recent years, the growing amount of research on models with which to work with people with autism spectrum disorders (ASD) has led to the development of different techniques and methods enabling better results to be obtained. As a result, it has become possible to help improve many of the symptoms that prevent people with this diagnosis and their families from leading a normal life. AIMS: To review two intervention models specifically designed for working with persons with ASD. DEVELOPMENT: The review first examines an early intervention model, the Early Start Denver Model, which consists in a checklist for children with ASD aged from 12 to 48 months, based on their progress. The SCERTS model is also reviewed. Unlike the Denver, this model presents goals that must be worked on throughout the entire lifespan of those with ASD. CONCLUSIONS: In the absence of further results from scientific evidence-based practice regarding the two models reviewed here, it can be concluded that there is no single standardised model and that children with difficulties in joint attention and imitation need to be referred at an early stage, as well as working together with the families. Thus, to perform a correct intervention it is necessary to take into account evidence-based practice and for the therapist to have a deep knowledge, respect and understanding of children with ASD and of their families.

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12. Groom MJ, Kochhar P, Hamilton A, Liddle EB, Simeou M, Hollis C. {{Atypical Processing of Gaze Cues and Faces Explains Comorbidity between Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD)}}. {J Autism Dev Disord};2017 (Mar 02)

This study investigated the neurobiological basis of comorbidity between autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). We compared children with ASD, ADHD or ADHD+ASD and typically developing controls (CTRL) on behavioural and electrophysiological correlates of gaze cue and face processing. We measured effects of ASD, ADHD and their interaction on the EDAN, an ERP marker of orienting visual attention towards a spatially cued location and the N170, a right-hemisphere lateralised ERP linked to face processing. We identified atypical gaze cue and face processing in children with ASD and ADHD+ASD compared with the ADHD and CTRL groups. The findings indicate a neurobiological basis for the presence of comorbid ASD symptoms in ADHD. Further research using larger samples is needed.

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13. Hervas A. {{[Emotional dysregulation and autism spectrum disorders]}}. {Rev Neurol};2017 (Feb 24);64(s01):S17-s25.

INTRODUCTION: Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviours. They exhibit a wide range of phenotypic variability related with the capacity to use language for expression, cognitive skills and psychiatric comorbidities, among others. Psychiatric comorbidity is very frequent in ASD and in many cases it is multiple. Emotional dysregulation is related with ASD and with other psychiatric and neurodevelopmental disorders. Multiple comorbidity associated with ASD is the group that presents a high degree of functional inability, multiple pharmacology and hospital admissions. Emotional dysregulation could be the basis of the multiple comorbidity that exists in ASD and will require its own particular considerations in the diagnostic evaluation and treatment. AIMS: To review emotional dysregulation, the currently held concept of it and its relationship with ASD. DEVELOPMENT: This work offers a review of the different definitions of emotional dysregulation, the associated cognitive and neurobiological mechanisms, the clinical presentation when associated to ASD, its role in psychiatric comorbidity and further considerations regarding psychological and pharmacological interventions. CONCLUSIONS: Emotional dysregulation could be associated to the multiple comorbidity present in persons with ASD, as well as being related with high rates of morbidity, hospital admissions and use of psychopharmaceuticals. Failure to identify and diagnose emotional dysregulation could be linked with low effectiveness and a large number of side effects in the case of comorbidity associated to ASD.

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14. Hsieh CC, Chen CH, Shen SY, Tzeng CR. {{Babies born from three young infertile sisters with premature ovarian insufficiency caused by inherited fragile X syndrome: An intergenerational report}}. {Taiwan J Obstet Gynecol};2017 (Feb);56(1):112-113.

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15. Kanakri SM, Shepley M, Varni JW, Tassinary LG. {{Noise and autism spectrum disorder in children: An exploratory survey}}. {Res Dev Disabil};2017 (Feb 18)

BACKGROUND: With more students being educated in schools for Autism Spectrum Disorder (ASD) than ever before, architects and interior designers need to consider the environmental features that may be modified to enhance the academic and social success of autistic students in school. AIM: This study explored existing empirical research on the impact of noise on children with ASD and provides recommendations regarding design features that can contribute to noise reduction. METHODS AND PROCEDURES: A survey, which addressed the impact of architectural design elements on autism-related behavior, was developed for teachers of children with ASD and distributed to three schools. OUTCOMES AND RESULTS: Most teachers found noise control to be an important issue for students with autism and many observed children using ear defenders. In terms of managing issues related to noise, most teachers agreed that thick or soundproof walls and carpet in the classroom were the most important issues for children with ASD. CONCLUSIONS: Suggested future research should address architectural considerations for building an acoustically friendly environment for children with autism, identifying patterns of problematic behaviors in response to acoustical features of the built environment of the classroom setting, and ways to manage maladaptive behaviors in acoustically unfriendly environments.

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16. Nissenkorn A, Kidon M, Ben-Zeev B. {{A Potential Life-Threatening Reaction to Glatiramer Acetate in Rett Syndrome}}. {Pediatr Neurol};2016 (Dec 07)

BACKGROUND: Rett syndrome is an X-linked dominant neurodevelopmental disorder manifesting with severe intellectual disability in females caused by various mutations in the MECP2 gene. Brain-derived neurotrophic factor (BDNF) is one of the main proteins regulated by the MECP2 protein; its overexpression in the MeCP2 mouse model partially corrects the Rett phenotype. Pharmacologic manipulations that lead to increased BDNF in individuals with Rett syndrome are expected to have a positive effect on the disorder. Glatiramer acetate, a well-known and safe multiple sclerosis immune modulator, increases BDNF levels in multiple sclerosis animal models and patients responding to treatment, as well as in Rett mouse models. METHODS: Fourteen patients with mutation-proven Rett syndrome were recruited for a clinical trial with glatiramer acetate. Baseline data and follow-up data were collected during the trial, which had to be stopped because of a severe adverse event. Our objective is to describe this unexpected potentially life-threatening event in response to glatiramer in patients with Rett syndrome. RESULTS: Four of 14 patients with Rett syndrome who were recruited and treated with daily injections of glatiramer acetate as part of an open-label clinical trial developed an exaggerated immediate postinjection response, which was experienced as life threatening in three of the patients, necessitating arrest of the trial. CONCLUSION: Despite the known safety profile of glatiramer acetate in adult and pediatric patients with multiple sclerosis, its use in Rett syndrome should be cautiously reconsidered. The described severe adverse event can be related to these patients’ primary autonomic nervous system dysfunction.

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17. Rankine J, Li E, Lurie S, Rieger H, Fourie E, Siper PM, Wang AT, Buxbaum JD, Kolevzon A. {{Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 02)

Phelan-McDermid syndrome (PMS) is a single-locus cause of developmental delay, autism spectrum disorder, and minimal verbal abilities. There is an urgent need to identify objective outcome measures of expressive language for use in this and other minimally verbal populations. One potential tool is an automated language processor called Language ENvironment Analysis (LENA). LENA was used to obtain over 542 h of audio in 18 children with PMS. LENA performance was adequate in a subset of children with PMS, specifically younger children and those with fewer stereotypic vocalizations. One LENA-derived language measure, Vocalization Ratio, had improved accuracy in this sample and may represent a novel expressive language measure for use in severely affected populations.

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18. Ruggieri VL, Arberas CL. {{[Autism: the importance of dysmorphology in the identification of associated medical conditions]}}. {Rev Neurol};2017 (Feb 24);64(s01):S27-s31.

INTRODUCTION: Autism spectrum disorders (ASD) are characterized by deficits in communication and social interaction, associated with restricted interests and stereotyped behaviors. Considered as a neurodepelopment disorders, they present a recognized neurobiological basis. Genetic causes as chromosomes abnormalities, or genetic defects are the most recognized etiologies, followed by the environmental factors. DEVELOPMENT: Dysmorphia are congenital alterations of the shape of a part of a living being, produced during its development. Their recognition is essential in delineating a syndrome or a specific entity. In the case of ASD, is possible to differentiate primary or idiopathic forms, from secondary or syndromic ones. In this work we describe the dysmorphological aspects related to ASD that will allow us to define a diagnostic presumption and guide the complementary studies according to them. CONCLUSIONS: The identification of these specific medical entities, associated with ASDs is fundamental since it allows inferring the possible evolution, preventing eventual complications and granting adequate genetic counseling.

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19. Sandbank M, Woynaroski T, Watson LR, Gardner E, Keceli Kaysili B, Yoder P. {{Predicting Intentional Communication in Preverbal Preschoolers with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 04)

Intentional communication has previously been identified as a value-added predictor of expressive language in preverbal preschoolers with autism spectrum disorder. In the present study, we sought to identify value-added predictors of intentional communication. Of five theoretically-motivated putative predictors of intentional communication measured early in the study (at study entry and 4 months after), three had significant zero-order correlations with later intentional communication (12 months after study entry) and were thus added to a linear model that predicted later intentional communication scores controlling for initial intentional communication scores at study entry. After controlling for initial intentional communication, early motor imitation was the only predictor that accounted for a significant amount of variance in children’s later intentional communication.

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20. Sokolova E, Oerlemans AM, Rommelse NN, Groot P, Hartman CA, Glennon JC, Claassen T, Heskes T, Buitelaar JK. {{A Causal and Mediation Analysis of the Comorbidity Between Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord};2017 (Mar 02)

Autism spectrum disorder (ASD) and Attention-deficit/hyperactivity disorder (ADHD) are often comorbid. The purpose of this study is to explore the relationships between ASD and ADHD symptoms by applying causal modeling. We used a large phenotypic data set of 417 children with ASD and/or ADHD, 562 affected and unaffected siblings, and 414 controls, to infer a structural equation model using a causal discovery algorithm. Three distinct pathways between ASD and ADHD were identified: (1) from impulsivity to difficulties with understanding social information, (2) from hyperactivity to stereotypic, repetitive behavior, (3) a pairwise pathway between inattention, difficulties with understanding social information, and verbal IQ. These findings may inform future studies on understanding the pathophysiological mechanisms behind the overlap between ASD and ADHD.

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21. Stickley A, Tachibana Y, Hashimoto K, Haraguchi H, Miyake A, Morokuma S, Nitta H, Oda M, Ohya Y, Senju A, Takahashi H, Yamagata T, Kamio Y. {{Assessment of Autistic Traits in Children Aged 2 to 4(1/2) Years With the Preschool Version of the Social Responsiveness Scale (SRS-P): Findings from Japan}}. {Autism Res};2017 (Mar 03)

The recent development and use of autism measures for the general population has led to a growing body of evidence which suggests that autistic traits are distributed along a continuum. However, as most existing autism measures were designed for use in children older than age 4, to date, little is known about the autistic continuum in children younger than age 4. As autistic symptoms are evident in the first few years, to address this research gap, the current study tested the preschool version of the Social Responsiveness Scale (SRS-P) in children aged 2 to 4(1/2) years in clinical (N = 74, average age 40 months, 26-51 months) and community settings (N = 357, average age 39 months, 25-50 months) in Japan. Using information obtained from different raters (mothers, other caregivers, and teachers) it was found that the scale demonstrated a good degree of internal consistency, inter-rater reliability and test-retest reliability, and a satisfactory degree of convergent validity for the clinical sample when compared with scores from diagnostic « gold standard » autism measures. Receiver operating characteristic analyses and the group comparisons also showed that the SRS-P total score discriminated well between children with autism spectrum disorder (ASD) and those without ASD. Importantly, this scale could identify autistic symptoms or traits distributed continually across the child population at this age irrespective of the presence of an ASD diagnosis. These findings suggest that the SRS-P might be a sensitive instrument for case identification including subthreshold ASD, as well as a potentially useful research tool for exploring ASD endophenotypes. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.

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22. Sulek R, Trembath D, Paynter J, Keen D, Simpson K. {{Inconsistent staffing and its impact on service delivery in ASD early-intervention}}. {Res Dev Disabil};2017 (Feb 27);63:18-27.

BACKGROUND: Inconsistent staffing (high turnover, casual workforce) is problematic in organisations, with the potential to impact both staff and services provided. Research has primarily focused on the impacts of inconsistent staffing in child welfare and community services with little evidence surrounding their ability to impact the outcomes for children with Autism Spectrum Disorders attending early-intervention services. AIM: The aim of this study was to explore staff views regarding the impact of staff turnover on the delivery of group based early intervention for children with ASD. METHODS AND PROCEDURES: We conducted five focus groups involving 29 professional (e.g. teachers, behaviour therapists), para-professional (e.g. child care workers), and managerial staff to explore their views. Audio recordings were transcribed verbatim for use in thematic analysis. OUTCOMES AND RESULTS: Two central themes, comprising five categories emerged to encompass participants’ views. « Impacts on Staff » accounted for the challenges existing staff felt when working with new and untrained staff in the centre. Participants also expressed concerns for the « Impacts on Service Delivery » that resulted from dynamic staffing, affecting fidelity of interventions and the program itself. CONCLUSIONS AND IMPLICATIONS: The findings suggest that lacking a consistent staffing structure is problematic when attempting to provide high quality early intervention services to children with ASD and suggest that future research should investigate the extent of inconsistent staffing, impacts of inconsistent staffing on providing intervention, and develop a range of tools to help measure these effects.

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