Pubmed du 26/05/15

Pubmed du jour

2015-05-26 12:03:50

1. {{Neurodevelopmental disorders: Inherited truncating mutations and copy number variants are common in children with autism spectrum disorders}}. {Nat Rev Neurol};2015 (May 26)

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2. Berkvens JJ, Veugen I, Veendrick-Meekes MJ, Snoeijen-Schouwenaars FM, Schelhaas HJ, Willemsen MH, Tan IY, Aldenkamp AP. {{Autism and behavior in adult patients with Dravet syndrome (DS)}}. {Epilepsy Behav};2015 (May 22);47:11-16.

INTRODUCTION: Autism and behavioral characteristics in adults with Dravet syndrome (DS) have rarely been systematically studied. METHOD: Three scales were used to assess the outcomes of DS in adulthood in terms of autism and behavior. All the adult patients with DS, nine male and four female, aged between 18 and 60years, living at the Epilepsy Center Kempenhaeghe in The Netherlands were included in the study. In addition, the past medical history of each patient was systematically screened for diagnoses like autism, Pervasive Development Disorder-Not Otherwise Specified (PDD-NOS), autism spectrum disorder (ASD), hyperactivity, Attention Deficit Hyperactivity Disorder (ADHD), and self-mutilation. Information concerning past and current use of psychoactive drugs was also evaluated. RESULTS: Eight patients (61.5%) were classified as having autism spectrum disorder (ASD) according to the AVZ-R or according to the medical record. Self-mutilation was seen in four patients (30.8%), hyperactivity in none. Three patients (23.1%) currently used psychoactive drugs. CONCLUSION: Autism spectrum disorders persist in adult patients with DS, while certain characteristics associated with behavioral problems, such as hyperactivity or use of psychoactive medication, seem to be less prominent than in childhood.

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3. Botteron KN. {{Longitudinal cortical thinning in adolescents with autism: good or bad?}}. {J Am Acad Child Adolesc Psychiatry};2015 (Jun);54(6):442-444.

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4. Faso DJ, Corretti CA, Ackerman RA, Sasson NJ. {{The broad autism phenotype predicts relationship outcomes in newly formed college roommates}}. {Autism};2015 (May 26)
Although previous studies have reported that the broad autism phenotype is associated with reduced relationship quality within established relationships, understanding how this association emerges requires assessment prior to relationship development. In the present longitudinal study, college roommates with minimal familiarity prior to cohabitation (N = 162) completed the broad autism phenotype questionnaire and intermittently reported on their relationship quality and interpersonal behaviors toward their roommate over their first 10 weeks of living together. Actor-Partner Interdependence Models demonstrated that roommates mismatched on aloofness (one high and one low) had lower relationship satisfaction than those matched on it, with the interpersonal behavior of warmth mediating this association. Because relationship satisfaction remained high when both roommates were aloof, satisfaction does not appear predicated upon the presence of aloofness generally but rather reflects a product of dissimilarity in aloof profiles between roommates. In contrast, although participants reported less relationship satisfaction and commitment with roommates higher on pragmatic language abnormalities, mismatches on this broad autism phenotype trait, and on rigid personality, were less consequential. In sum, these findings suggest that complementary profiles of social motivation may facilitate relationship quality during the early course of relationship development.

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5. Fischbach RL, Harris MJ, Ballan MS, Fischbach GD, Link BG. {{Is there concordance in attitudes and beliefs between parents and scientists about autism spectrum disorder?}}. {Autism};2015 (May 26)
There is no reported investigation comparing concordance in attitudes and beliefs about autism spectrum disorder between parents of children with autism spectrum disorder and scientists who research autism spectrum disorder. To investigate the level of concordance between these groups on causes of autism, priorities of research, perceived stigma, and disclosure of genetic test results, telephone interviews were conducted. Parents (n = 502) were recruited from the Simons Simplex Collection, and research scientists (n = 60) were recruited from investigators funded by the Simons Foundation. Response rates were notable (parents 91%, scientists 80%). Parents and scientists differed significantly regarding beliefs of the likely major cause of autism (p = 0.007) and priorities for further research (p < 0.001). Scientists believed in genetic causes while many parents believed in vaccines as the cause of autism. Parents (37%) were more likely to hesitate vaccinating their child (p < 0.001). In contrast, there was strong concordance regarding extent of perceived stigma (95% vs 92%) and preferences for disclosure of genetic test results, including incidental findings. While scientists believed communication important, paradoxically fewer than half reported it important for scientists to communicate directly with parents. Better communication between parents and scientists should improve mutual understanding and ultimately the health and well-being of children with autism spectrum disorder and their families.

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6. Geretsegger M, Holck U, J AC, Elefant C, Kim J, Gold C. {{Common Characteristics of Improvisational Approaches in Music Therapy for Children with Autism Spectrum Disorder: Developing Treatment Guidelines}}. {J Music Ther};2015 (May 26)
BACKGROUND: Improvisational methods of music therapy have been increasingly applied in the treatment of individuals with autism spectrum disorder (ASD) over the past decades in many countries worldwide. OBJECTIVE: This study aimed at developing treatment guidelines based on the most important common characteristics of improvisational music therapy (IMT) with children affected by ASD as applied across various countries and theoretical backgrounds. METHODS: After initial development of treatment principle items, a survey among music therapy professionals in 10 countries and focus group workshops with experienced clinicians in three countries were conducted to evaluate the items and formulate revised treatment guidelines. To check usability, a treatment fidelity assessment tool was subsequently used to rate therapy excerpts. RESULTS: Survey findings and feedback from the focus groups corroborated most of the initial principles for IMT in the context of children with ASD. Unique and essential principles include facilitating musical and emotional attunement, musically scaffolding the flow of interaction, and tapping into the shared history of musical interaction between child and therapist. Raters successfully used the tool to evaluate treatment adherence and competence. CONCLUSIONS: Summarizing an international consensus about core principles of improvisational approaches in music therapy for children with ASD, these treatment guidelines may be applied in diverse theoretical models of music therapy. They can be used to assess treatment fidelity, and may be applied to facilitate future research, clinical practice, and training.

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7. Mandell D, Lecavalier L. {{Should we believe the Centers for Disease Control and Prevention’s autism spectrum disorder prevalence estimates?}}. {Autism};2014 (Jul);18(5):482-484.

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8. Mohammadian M, Zarafshan H, Mohammadi MR, Karimi I. {{Evaluating Reliability and Predictive Validity of the Persian Translation of Quantitative Checklist for Autism in Toddlers (Q-CHAT)}}. {Iran J Psychiatry};2015;10(1):64-70.

OBJECTIVE: Early screening of autism increases the chance of receiving timely intervention. Using the Parent Report Questionnaires is effective in screening autism. The Q-CHAT is a new instrument that has shown several advantages than other screening tools. Because there is no adequate tool for the early screening of autistic traits in Iranian children, we aimed to investigate the adequacy of the Persian translation of Q-CHAT. METHOD: At first, we prepared the Persian translation of the Quantitative Checklist for Autism in Toddlers (Q-CHAT). After that, an appropriate sample was selected and the check list was administered. Our sample included 100 children in two groups (typically developing and autistic children) who had been selected conveniently. Pearson’s r was used to determine test-retest reliability, and Cronbach’s alpha coefficient was used to explore the internal consistency of Q-CHAT. We used the receiver operating characteristics curve (ROC) to investigate whether Q-CHAT can adequately discriminate between typically developing and ASD children or not. Data analysis was carried out by SPSS 19. RESULT: The typically developing group consisted of 50 children with the mean age of 27.14 months, and the ASD group included50 children with the mean age of 29.62 months. The mean of the total score for the typically developing group was 22.4 (SD=6.26) on Q-CHAT and it was 50.94 (SD=12.35) for the ASD group, which was significantly different (p=0.00).The Cronbach’s alpha coefficient of the checklist was 0.886, and test-retest reliability was calculated as 0.997 (p<0.01). The estimated area under the curve (AUC) was 0.971. It seems that the total score equal to 30 can be a good cut point to identify toddlers who are at risk of autism (sensitivity= 0.96 and specificity= 0.90). CONCLUSION: The Persian translation of Q-CHAT has good reliability and predictive validity and can be used as a screening tool to detect 18 to 24 months old children who are at risk of autism.

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9. Moss P, Howlin P, Savage S, Bolton P, Rutter M. {{Self and informant reports of mental health difficulties among adults with autism findings from a long-term follow-up study}}. {Autism};2015 (May 26)
Data on psychiatric problems in adults with autism are inconsistent, with estimated rates ranging from around 25% to over 75%. We assessed difficulties related to mental health in 58 adults with autism (10 females, 48 males; mean age 44 years) whom we have followed over four decades. All were of average non-verbal intelligence quotient when diagnosed as children. Overall ratings of mental health problems were based on data from the Family History Schedule (Bolton et al., 1994). Informant reports indicated that many of the cohort (44%) had experienced no mental health problems in adulthood; 28% had experienced mild to moderate difficulties, 23% had severe and 5% very severe problems. Depression was the most commonly reported problem. Among those adults (n = 22) able to report on their own mental state, again many (45%) reported no mental health problems, although 27% reported very severe mental health problems related to anxiety, depression and/or obsessive-compulsive symptoms. Informant ratings of poor mental health were not associated with gender, severity of autism in childhood, or child or adult intelligence quotient, but there were small correlations with overall social functioning (rho = 0.34) and current autism severity (rho = 0.37). The findings highlight the difficulties of assessing mental health problems in adults with autism and the need for appropriately validated measures.

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10. O’Hearn K, Velanova K, Lynn A, Wright C, Hallquist M, Minshew N, Luna B. {{Abnormalities in brain systems supporting individuation and enumeration in autism}}. {Autism Res};2015 (May 26)
Previous work indicates that adults with autism display a decreased capacity when rapidly enumerating small sets of elements (i.e., subitizing), compared to typically developing (TD) individuals. This ability is crucial for fundamental visual functions such as object individuation and parallel processing. Thus, the deficit in autism suggests limits in these skills. To examine the neural basis of this limitation, adults with and without high functioning autism rapidly enumerated 1 to 8 randomly located squares during a neuroimaging study. Typically, adults are thought to use parallel visual processes to quantify up to three or four elements, and serial processes to enumerate more (5+) elements. We hypothesized that parietal lobe regions associated with counting would be recruited with smaller sets of elements in adults with autism, compared to TD adults. Consistent with this hypothesis, activation in parietal regions increased with smaller set sizes in adults with autism compared to TD adults. Increased activation for three elements was evident in several regions, including those thought to underlie subitizing. In addition, regions specific to the counting range in TD adults were often equally active for set sizes in the subitizing range in the adults with autism. Finally, significant deactivation was evident in TD adults, presumably reflecting relative suppression of regions specialized for competing processes, but was not apparent in adults with autism. These differences in brain function in adults with autism on a simple enumeration task suggest atypical brain organization and function that is likely to impact most visual tasks, especially those with multiple elements. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.

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11. Sacrey LA, Zwaigenbaum L, Bryson S, Brian J, Smith IM, Roberts W, Szatmari P, Roncadin C, Garon N, Novak C, Vaillancourt T, McCormick T, MacKinnon B, Jilderda S, Armstrong V. {{Can parents’ concerns predict autism spectrum disorder? A prospective study of high-risk siblings from 6 to 36 months of age}}. {J Am Acad Child Adolesc Psychiatry};2015 (Jun);54(6):470-478.

OBJECTIVE: This prospective study characterized parents’ concerns about infants at high risk for developing autism spectrum disorder (ASD; each with an older sibling with ASD) at multiple time points in the first 2 years, and assessed their relation to diagnostic outcome at 3 years. METHOD: Parents of low-risk controls (LR) and high-risk infant siblings (HR) reported any concerns that they had regarding their children’s development between 6 and 24 months of age regarding sleep, diet, sensory behavior, gross/fine motor skills, repetitive movements, communication, communication regression, social skills, play, and behavioral problems, using a parent concern form designed for this study. At 3 years of age, an independent, gold-standard diagnostic assessment for ASD was conducted for all participants. RESULTS: As predicted, parents of HR children who received an ASD diagnosis reported more concerns than parents of LR and HR children who did not have ASD. The total number of concerns predicted a subsequent diagnosis of ASD as early as 12 months within the HR group. Concerns regarding sensory behavior and motor development predicted a subsequent diagnosis of ASD as early as 6 months, whereas concerns about social communication and repetitive behaviors did not predict diagnosis of ASD until after 12 months. CONCLUSION: Parent-reported concerns can improve earlier recognition of ASD in HR children.

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12. Wallace GL, Eisenberg IW, Robustelli B, Dankner N, Kenworthy L, Giedd JN, Martin A. {{Longitudinal cortical development during adolescence and young adulthood in autism spectrum disorder: increased cortical thinning but comparable surface area changes}}. {J Am Acad Child Adolesc Psychiatry};2015 (Jun);54(6):464-469.

OBJECTIVE: Prior reports suggest that autism spectrum disorder (ASD) is associated with atypically excessive early brain growth. Recent cross-sectional studies suggest that later cortical development during adolescence/adulthood might also be aberrant, although longitudinal designs are required to evaluate atypical growth trajectories. The present study sought to examine longitudinal changes in cortical thickness and surface area among adolescents and young adults with ASD. METHOD: Two high-resolution anatomic magnetic resonance imaging scans approximately 2 years apart were acquired from 17 adolescents with ASD and 18 typically developing (TD) adolescents, matched on age (range = 14-24 years), IQ, sex ratio, and handedness (70 scans total). The FreeSurfer image analysis suite was used to quantify longitudinal changes in cortical thickness and surface area. RESULTS: Accelerated cortical thinning for the ASD group as compared to the TD group was found in 2 areas in the left hemisphere, the posterior portion of ventral temporal cortex and superior parietal cortex (cluster corrected p < .01). For ventral temporal cortex, cortical thinning was associated with everyday executive function impairments, and thinner cortex at time 2 was correlated with ASD social symptoms. Differences in surface area changes were not detected. CONCLUSION: The present longitudinal study extends prior cross-sectional research by demonstrating increased cortical thinning (in portions of temporal and parietal cortex) but comparable surface area growth rates in participants with ASD compared to TD controls during adolescence and into young adulthood. These findings provide further evidence for atypical cortical development beyond the early years in ASD, marked by increased cortical thinning in late adolescence/young adulthood.

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