Pubmed du 12/03/18

Pubmed du jour

2018-03-12 12:03:50

1. Anixt JS, Meinzen-Derr J, Estridge H, Smith L, Brinkman WB. {{Characteristics of Treatment Decisions to Address Challenging Behaviors in Children with Autism Spectrum Disorder}}. {J Dev Behav Pediatr}. 2018.

OBJECTIVE: To describe the characteristics of treatment decisions to address challenging behaviors in children with autism spectrum disorder (ASD). METHODS: Parents of children aged 4 to 15 years with ASD seen in a developmental behavioral pediatric (DBP) clinic completed validated measures to characterize their child’s behaviors and their own level of stress. Parents reported their treatment priority before the visit. During the visit, we assessed shared decision making (SDM) using the Observing Patient Involvement (OPTION) scale and alignment of the clinician’s treatment plan with the parent’s priority. Before and after the visit, parents rated their uncertainty about the treatment plan using the Decisional Conflict Scale (DCS). We calculated descriptive statistics for the measures. RESULTS: Fifty-four families participated. Children were a mean (SD) age of 8.8 (3.3) years, and 87% were male. Children had a variety of behavioral challenges, and parents reported high levels of stress. Commonly reported parent treatment priorities were hyperactivity, tantrums, anxiety, and poor social skills. Levels of SDM were low, with a mean (SD) OPTION score of 24.5 (9.7). Parent priorities were addressed in 65% of treatment plans. Approximately 69% of parents had elevated DCS scores before the visit. Although levels of decisional conflict were lower after the visit compared with before the visit (p < 0.03), 46% of parents continued to report high scores on the DCS. CONCLUSION: Parents leave DBP visits with feelings of uncertainty about treatment decisions and with treatment plans that do not always address their priorities. SDM interventions hold promise to improve the quality of ASD treatment decisions. Lien vers le texte intégral (Open Access ou abonnement)

2. Galdino MP, Pegoraro LFL, Saad LO, Grodberg D, Celeri E. {{Evidence of Validity of the Autism Mental Status Examination (AMSE) in a Brazilian Sample}}. {J Autism Dev Disord}. 2018.

This study investigated the psychometric properties of the Autism Mental Status Examination (AMSE) in a Brazilian sample of children and adolescents with autism spectrum disorder (ASD). A sample of 260 children and adolescents, comprising 56 (21.5%) females and 204 (78.5%) males, was assessed. The participants were submitted to both the childhood autism rating scale (CARS-BR) and the AMSE. The CARS-BR was used to estimate ASD severity and the cutoff point on the AMSE. Spearman’s correlation test was employed to determine the correlation between the AMSE and CARS-BR scales. The cutoff values were calculated using the ROC (receiver operating characteristic) curve, identifying the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). The homogeneity of the items of the AMSE was determined using Cronbach s alpha. The AMSE exhibited good internal consistency (0.74), sensitivity (0.91) and specificity (0.98); and high correlation with the CARS-BR (rho = 0.91, p < 0.01). Preliminary results showed that the AMSE is a tool with good psychometric properties for ASD screening. Lien vers le texte intégral (Open Access ou abonnement)

3. Hardiman RL, McGill P. {{How common are challenging behaviours amongst individuals with Fragile X Syndrome? A systematic review}}. {Res Dev Disabil}. 2018.

Fragile X Syndrome (FXS) appears to be associated with an increased risk for engaging in challenging behaviour, particularly self-injury, relative to those with mixed aetiology learning disabilities. Such behavioural issues are reported to be of high concern for those providing support. As such, this systematic review aimed to gain further epidemiological data regarding challenging behaviours in individuals with FXS, including: self-injurious behaviour (SIB), hand-biting as a specific topography of SIB, aggression and property destruction. Twenty eight manuscripts were identified which reported the prevalence of a relevant topography of behaviour, with widely varying prevalence estimates. Weighted averages of the prevalence of behaviours were calculated across studies. Comparison of proportions revealed significant gender differences and differences in the prevalence of types of behaviour. It is hoped that this comprehensive overview of data on this clinically significant topic will help to inform and drive future investigation to understand and provide effective intervention for the benefit of those with FXS.

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4. Juarez AP, Weitlauf AS, Nicholson A, Pasternak A, Broderick N, Hine J, Stainbrook JA, Warren Z. {{Early Identification of ASD Through Telemedicine: Potential Value for Underserved Populations}}. {J Autism Dev Disord}. 2018.

Increasing access to diagnostic services is crucial for identifying ASD in young children. We therefore evaluated a telemedicine assessment procedure. First, we compared telediagnostic accuracy to blinded gold-standard evaluations (n = 20). ASD cases identified via telemedicine were confirmed by in-person evaluation. However, 20% of children diagnosed with ASD in-person were not diagnosed via telemedicine. Second, we evaluated telediagnostic feasibility and acceptability in a rural catchment. Children (n = 45) and caregivers completed the telemedicine procedure and provided feedback. Families indicated high levels of satisfaction. Remote diagnostic clinicians diagnosed 62% of children with ASD, but did not feel capable of ruling-in or out ASD in 13% of cases. Findings support preliminary feasibility, accuracy, and clinical utility of telemedicine-based assessment of ASD for young children.

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5. Kramer JM, Helfrich C, Levin M, Hwang IT, Samuel PS, Carrellas A, Schwartz AE, Goeva A, Kolaczyk ED. {{Initial evaluation of the effects of an environmental-focused problem-solving intervention for transition-age young people with developmental disabilities: Project TEAM}}. {Dev Med Child Neurol}. 2018.

AIM: Project TEAM (Teens making Environment and Activity Modifications) teaches transition-age young people with developmental disabilities, including those with co-occurring intellectual or cognitive disabilities, to identify and resolve environmental barriers to participation. We examined its effects on young people’s attainment of participation goals, knowledge, problem-solving, self-determination, and self-efficacy. METHOD: We used a quasi-experimental, repeated measures design (initial, outcome, 6-week follow-up) with two groups: (1) Project TEAM (28 males, 19 females; mean age 17y 6mo); and (2) goal-setting comparison (21 males, 14 females; mean age 17y 6mo). A matched convenience sample was recruited in two US states. Attainment of participation goals and goal attainment scaling (GAS) T scores were compared at outcome. Differences between groups for all other outcomes were analyzed using linear mixed effects models. RESULTS: At outcome, Project TEAM participants demonstrated greater knowledge (estimated mean difference: 1.82; confidence interval [CI]: 0.90, 2.74) and ability to apply knowledge during participation (GAS: t[75]=4.21; CI: 5.21, 14.57) compared to goal-setting. While both groups achieved significant improvements in knowledge, problem-solving, and self-determination, increases in parent reported self-determination remained at 6-week follow-up only for Project TEAM (estimated mean difference: 4.65; CI: 1.32, 7.98). Significantly more Project TEAM participants attained their participation goals by follow-up (Project TEAM=97.6%, goal-setting=77.1%, p=0.009). INTERPRETATION: Both approaches support attainment of participation goals. Although inconclusive, Project TEAM may uniquely support young people with developmental disabilities to act in a self-determined manner and apply an environmental problem-solving approach over time. WHAT THIS PAPER ADDS: Individualized goal-setting, alone or during Project TEAM (Teens making Environment and Activity Modifications) appears to support attainment of participation goals. Project TEAM appears to support young people with developmental disabilities to apply an environmental problem-solving approach to participation barriers. Parents of young people with developmental disabilities report sustained changes in self-determination 6 weeks after Project TEAM.

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6. Lim N, O’Reilly MF, Sigafoos J, Lancioni GE. {{Understanding the Linguistic Needs of Diverse Individuals with Autism Spectrum Disorder: Some Comments on the Research Literature and Suggestions for Clinicians}}. {J Autism Dev Disord}. 2018.

The practice of advising bilingual parents of children with autism spectrum disorder (ASD) to speak in a single language, often the majority language of the region, with their child with ASD seems to be common. Such advice, however, is not grounded on empirical evidence but appears to be based more on logical arguments and assumptions. In this commentary, fears surrounding dual language exposure and empirical evidence supporting bilingualism in children with ASD are discussed. Suggestions for future research and three key steps that clinicians can consider taking to better address the needs of diverse learners are provided.

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7. Qin L, Ma K, Wang ZJ, Hu Z, Matas E, Wei J, Yan Z. {{Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition}}. {Nat Neurosci}. 2018.

Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers. Here we found that brief treatment with romidepsin, a highly potent class I histone deacetylase (HDAC) inhibitor, alleviated social deficits in Shank3-deficient mice, which persisted for ~3 weeks. HDAC2 transcription was upregulated in these mice, and knockdown of HDAC2 in prefrontal cortex also rescued their social deficits. Nuclear localization of beta-catenin, a Shank3-binding protein that regulates cell adhesion and transcription, was increased in Shank3-deficient mice, which induced HDAC2 upregulation and social deficits. At the downstream molecular level, romidepsin treatment elevated the expression and histone acetylation of Grin2a and actin-regulatory genes and restored NMDA-receptor function and actin filaments in Shank3-deficient mice. Taken together, these findings highlight an epigenetic mechanism underlying social deficits linked to Shank3 deficiency, which may suggest potential therapeutic strategies for ASD patients bearing SHANK3 mutations.

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8. Thorup E, Nystrom P, Gredeback G, Bolte S, Falck-Ytter T. {{Reduced Alternating Gaze During Social Interaction in Infancy is Associated with Elevated Symptoms of Autism in Toddlerhood}}. {Journal of abnormal child psychology}. 2018.

In typical development, infants often alternate their gaze between their interaction partners and interesting stimuli, increasing the probability of joint attention toward surrounding objects and creating opportunities for communication and learning. Children with Autism Spectrum Disorder (ASD) have been found to engage less in behaviors that can initiate joint attention compared to typically developing children, but the role of such atypicalities in the development of ASD during infancy is not fully understood. Here, using eye tracking technology in a live setting, we show that 10-month-olds at high familial risk for ASD engage less in alternating gaze during interaction with an adult compared to low risk infants. These differences could not be explained by low general social preference or slow visual disengagement, as the groups performed similarly in these respects. We also found that less alternating gaze at 10 months was associated with more social ASD symptoms and less showing and pointing at 18 months. These relations were similar in both the high risk and the low risk groups, and remained when controlling for general social preference and disengagement latencies. This study shows that atypicalities in alternating gaze in infants at high risk for ASD emerge already during the first 10 months of life – a finding with theoretical as well as potential practical implications.

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9. Warrier V, Toro R, Chakrabarti B, Borglum AD, Grove J, Hinds DA, Bourgeron T, Baron-Cohen S. {{Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa}}. {Translational psychiatry}. 2018; 8(1): 35.

Empathy is the ability to recognize and respond to the emotional states of other individuals. It is an important psychological process that facilitates navigating social interactions and maintaining relationships, which are important for well-being. Several psychological studies have identified difficulties in both self-report and performance-based measures of empathy in a range of psychiatric conditions. To date, no study has systematically investigated the genetic architecture of empathy using genome-wide association studies (GWAS). Here we report the results of the largest GWAS of empathy to date using a well-validated self-report measure of empathy, the Empathy Quotient (EQ), in 46,861 research participants from 23andMe, Inc. We identify 11 suggestive loci (P < 1 x 10(-6)), though none were significant at P < 2.5 x 10(-8) after correcting for multiple testing. The most significant SNP was identified in the non-stratified analysis (rs4882760; P = 4.29 x 10(-8)), and is an intronic SNP in TMEM132C. The EQ had a modest but significant narrow-sense heritability (0.11 +/- 0.014; P = 1.7 x 10(-14)). As predicted, based on earlier work, we confirmed a significant female advantage on the EQ (P < 2 x 10(-16), Cohen's d = 0.65). We identified similar SNP heritability and high genetic correlation between the sexes. Also, as predicted, we identified a significant negative genetic correlation between autism and the EQ (rg = -0.27 +/- 0.07, P = 1.63 x 10(-4)). We also identified a significant positive genetic correlation between the EQ and risk for schizophrenia (rg = 0.19 +/- 0.04; P = 1.36 x 10(-5)), risk for anorexia nervosa (rg = 0.32 +/- 0.09; P = 6 x 10(-4)), and extraversion (rg = 0.45 +/- 0.08; 5.7 x 10(-8)). This is the first GWAS of self-reported empathy. The results suggest that the genetic variations associated with empathy also play a role in psychiatric conditions and psychological traits. Lien vers le texte intégral (Open Access ou abonnement)