Pubmed du 28/05/14

Pubmed du jour

2014-05-28 12:03:50

1. {{The role of genetic factors in autism risk may have been exaggerated in some studies}}. {Nurs Stand};2014 (May 28);28(39):16-17.

The largest population-based study to date investigating the familial risk of autism has found that about 50 per cent of the risk that a child will develop autism is caused by genetic factors – considerably lower than the 90 per cent reported in earlier twin studies.

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2. Ahlstrom BH, Wentz E. {{Difficulties in everyday life: Young persons with attention-deficit/hyperactivity disorder and autism spectrum disorders perspectives. A chat-log analysis}}. {Int J Qual Stud Health Well-being};2014;9:23376.

This study focuses on the everyday life of young persons with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). There are follow-up studies describing ADHD, and ASD in adults, and residual impairments that affect life. Few qualitative studies have been conducted on the subject of their experiences of everyday life, and even fewer are from young persons’ perspectives. This study’s aim was to describe how young persons with ADHD and ASD function and how they manage their everyday life based on analyses of Internet-based chat logs. Twelve young persons (7 males and 5 females aged 15-26) diagnosed with ADHD and ASD were included consecutively and offered 8 weeks of Internet-based Support and Coaching (IBSC). Data were collected from 12 chat logs (445 pages of text) produced interactively by the participants and the coaches. Qualitative content analysis was applied. The text was coded and sorted into subthemes and further interpreted into themes. The findings revealed two themes: « fighting against an everyday life lived in vulnerability » with the following subthemes: « difficult things, » « stress and rest, » and « when feelings and thoughts are a concern »; and the theme « struggling to find a life of one’s own » with the following subthemes: « decide and carry out, » « making life choices, » and « taking care of oneself. » Dealing with the problematic situations that everyday encompasses requires personal strength and a desire to find adequate solutions, as well as to discover a role in society. This study, into the provision of support and coaching over the Internet, led to more in-depth knowledge about these young persons’ everyday lives and revealed their ability to use IBSC to express the complexity of everyday life for young persons with ADHD and ASD. The implications of the findings are that using online coaching makes available new opportunities for healthcare professionals to acknowledge these young persons’ problems.

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3. Bennett TA, Szatmari P, Georgiades K, Hanna S, Janus M, Georgiades S, Duku E, Bryson S, Fombonne E, Smith IM, Mirenda P, Volden J, Waddell C, Roberts W, Vaillancourt T, Zwaigenbaum L, Elsabbagh M, Thompson A. {{Language Impairment and Early Social Competence in Preschoolers with Autism Spectrum Disorders: A Comparison of DSM-5 Profiles}}. {J Autism Dev Disord};2014 (May 28)
Children with autism spectrum disorder (ASD) and structural language impairment (LI) may be at risk of more adverse social-developmental outcomes. We examined trajectories of early social competence (using the Vineland-II) in 330 children aged 2-4 years recently diagnosed with ASD, and compared 3 subgroups classified by: language impairment (ASD/LI); intellectual disability (ASD/ID) and ASD without LI or ID (ASD/alone). Children with ASD/LI were significantly more socially impaired at baseline than the ASD/alone subgroup, and less impaired than those with ASD/ID. Growth in social competence was significantly slower for the ASD/ID group. Many preschool-aged children with ASD/LI at time of diagnosis resembled « late talkers » who appeared to catch up linguistically. Children with ASD/ID were more severely impaired and continued to lag further behind.

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4. Beuker KT, Schjolberg S, Lie KK, Swinkels S, Rommelse NN, Buitelaar JK. {{ESAT and M-CHAT as screening instruments for autism spectrum disorders at 18 months in the general population: issues of overlap and association with clinical referrals}}. {Eur Child Adolesc Psychiatry};2014 (May 28)
The Modified Checklist for Autism in Toddlers (M-CHAT) and the Early Screening of Autistic Traits (ESAT) were designed to screen for autism spectrum disorders in very young children. The aim of this study was to explore proportions of children that screened positive on the ESAT or the M-CHAT and to investigate if screening positive on the ESAT and M-CHAT is associated with clinical referral by 18 months and other aspects of children’s development, health, and behavior. In this study, the mothers of 12,948 18-month-old children returned a questionnaire consisting of items from the ESAT and M-CHAT, plus questions about clinical and developmental characteristics. The M-CHAT identified more screen-positive children than the ESAT, but the ESAT was associated with more clinical referrals and tended to identify more children with medical, language, and behavioral problems. A post hoc analysis of combining the two instruments found this to be more effective than the individual instruments alone in identifying children referred to clinical services at 18 months. Further analysis at the level of single items is warranted to improve these screening instruments.

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5. Chan JS, Naumer MJ. {{Explaining autism spectrum disorders: central coherence versus predictive coding theories}}. {J Neurophysiol};2014 (May 28)
In this article, we review the paper Multisensory Temporal Integration in Autism Spectrum Disorders, by Stevenson et al. (2014). This paper illustrates the need to present different forms of stimuli in order to characterize the perceptual abilities of people with autism spectrum disorder (ASD). Furthermore, we will discuss their behavioral results and offer an opposing viewpoint to the suggested neuronal drivers of ASD.

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6. Edwards LA. {{A Meta-Analysis of Imitation Abilities in Individuals With Autism Spectrum Disorders}}. {Autism Res};2014 (May 23)
Although imitation impairments are often reported in individuals with autism spectrum disorders (ASD), previous work has not yet determined whether these impairments are significant, specific to ASD, and present across the entire spectrum. This report of 53 studies on imitation in ASD seeks to determine whether individuals with ASD show significant imitation deficits, the magnitude of these deficits, and whether they are specific to ASD. Using standard meta-analytic techniques in a random-effects model, the data reviewed suggest that individuals with ASD show deficits in imitation, performing on average 0.81 SDs below individuals without ASD on imitation tasks. This deficit was specific to the condition of having ASD. Moderator analyses revealed that the average Autism Diagnostic Observation Schedule (ADOS) scores of groups of ASD participants were significantly and strongly negatively associated with the imitation abilities of these subjects, but average participant IQ was not associated with imitation abilities. Study setting, novelty of actions, format of imitation tasks (live vs. not), number of actions to imitate, or verbal prompts were not found to significantly affect the sizes of the imitation differences between individuals with and without ASD. The manner in which imitation was operationalized, however, had significant effects on whether imitation deficits were found between individuals with and without ASD. In tests that measured imitation of both form and end points, participants with ASD showed significant deficits compared with those without ASD; on tests of end point emulation only, individuals with ASD showed no deficits. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.

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7. Eom S, Fisher B, Dezort C, Berg AT. {{Routine developmental, autism, behavioral, and psychological screening in epilepsy care settings}}. {Dev Med Child Neurol};2014 (May 27)
AIM: Screening for cognitive impairment, developmental delay, and neuropsychiatric problems is not always performed in children with epilepsy. The aim of this study was to assess the value of this screening and its validity for determining previously unidentified (‘actionable’) problems in children with epilepsy. METHOD: New and existing patients with epilepsy were recruited from a hospital-based epilepsy center. The parent of the child completed screening evaluations for development (Ages and Stages Questionnaire [ASQ], 0-66mo), autism (Modified Checklist for Autism in Toddlers [mCHAT], 16-30mo), social communication (Social Communication Questionnaire [SCQ], >/=4y), and psychiatric concerns (Strengths and Difficulties Questionnaire [SDQ], 4-17y). RESULTS: We screened 236 children overall (136 males [58%], 100 females [42%]; mean age [SD] 6y 7mo [4y 6mo]). Of these, 176 children (75%) had established epilepsy diagnoses and 60 (25%) were patients with new-onset epilepsy. Of those with new-onset disease, 22 (37%) were determined not to have epilepsy. Positive findings by test were 82% (ASQ), 54% (mCHAT), 15%, (SCQ), and 58% (SDQ). Findings were actionable in 46 children (20%): 18% of findings in children with established epilepsy and 23% of findings in patients with new-onset epilepsy. Of the 46 children for whom further referrals were made, the parents of 28 (61%) have pursued further evaluations. INTERPRETATION: In this study, children with existing and new-onset diagnoses of epilepsy had actionable screening findings. These findings support the development of systematic screening of comorbidities for children with epilepsy.

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8. Gabryel B, Kapalka A, Sobczyk W, Labuzek K, Gaweda A, Janas-Kozik M. {{Dysregulation of the mTOR signaling pathway in the pathogenesis of autism spectrum disorders}}. {Postepy Hig Med Dosw (Online)};2014;68(0):375-383.

Mammalian target of rapamycin (mTor) plays multiple role in central nervous system and is involved in regulation of cell viability, differentiation, transcription, translation, protein degradation, actin cytoskeletal organization and autophagy. Recent experimental and clinical studies reveal that disturbances of mTOR signaling are involved in the pathogenesis of autism spectrum disorders (ASD). This article reviews current data on the alteration in the mTOR transduction cascade, which may contribute to common neurobehavioral disorders typical for ASD. Moreover, the results of the latest experimental studies on the potential of mTOR inhibitors for the treatment of ASD are reviewed.

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9. Leung RC, Zakzanis KK. {{Brief Report: Cognitive Flexibility in Autism Spectrum Disorders: A Quantitative Review}}. {J Autism Dev Disord};2014 (May 27)
Impairments in cognitive flexibility have been used to characterize the neuropsychological presentation of persons with autism spectrum disorders (ASDs). Previous studies have yielded mixed results. Our objective was to systematically review the sensitivity of cognitive flexibility measures in ASD using quantitative methods employed by meta-analytic statistical techniques. Seventy-two studies met inclusion criteria for analysis and included a total of 2,137 individuals with ASD and 2,185 healthy controls. Our findings demonstrate that while the shift sub-scale of the self-report version of the Behavioral Rating Inventory of Executive Function (BRIEF) showed approximate absolute discriminability, of all the performance measures that were systematically reviewed and evaluated, none could reliably differentiate between individuals with ASD and controls; this is not surprising given that cognitive flexibility is not a core deficit of ASD. Our findings suggest that while the shift sub-scale of the self-report version of the BRIEF is a promising clinical marker, clinical performance measures of cognitive flexibility may lack ecological validity and lastly, reinforces that impairments in cognitive flexibility do not uniformly characterize all persons with ASD.

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10. Matson JL, Williams LW. {{Depression and mood disorders among persons with Autism Spectrum Disorders}}. {Res Dev Disabil};2014 (May 23);35(9):2003-2007.

In the past decade, Autism Spectrum Disorders (ASD) have both risen in prevalence and become a critical area of research in the field of developmental disabilities. As the body of knowledge about ASD has grown, the overlap of ASD with other problems has also become a rapidly emerging area of study. One of the most studied of these topics is comorbid psychopathology, with depression and mood disorders emerging as one of the more troublesome of these co-occurring conditions. A great deal of research is still needed to determine how best to assess and treat these disorders within the context of ASD. This manuscript reviews current trends and topics relative to this area of study.

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11. Parma V, Bulgheroni M, Tirindelli R, Castiello U. {{Facilitation of action planning in children with autism: The contribution of the maternal body odor}}. {Brain Cogn};2014 (May 23);88C:73-82.

Imitation is a key socio-cognitive skill impaired in individuals with Autism Spectrum Conditions (ASC). It is known that the familiarity with an actor facilitates the appearance of imitative abilities. Here, we explore whether a highly familiar and socially relevant stimulus presented in the olfactory modality is able to improve spontaneous imitation as early as at the level of action planning. A group of 20 children with ASC and 20 controls observed their own mother or the mother of another child performing a reach-to-grasp action towards an object, under the exposure to their maternal odor, the odor of the mother of another child or no odor. Subsequently, children acted upon the same object with no specific instruction to imitate. Child’s movement initiation time (MIT) served as an indicator of motor planning facilitation induced by action observation. Results suggest that for children with ASC (but not controls) MIT was significantly lower when exposed to the maternal odor both when interacting with a familiar or an unfamiliar model. In the former case, the performance is comparable to controls. The familiar model in the absence of any olfactory cue is able to induce a facilitation effect, but the maximal facilitation on MIT is evident when maternal odor and familiar model are paired. We hypothesize that for children with ASC the maternal odor provides relevant social motivation for taking advantage of others’ actions when planning movements in an imitative context.

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12. Samson AC, Hardan AY, Podell RW, Phillips JM, Gross JJ. {{Emotion Regulation in Children and Adolescents With Autism Spectrum Disorder}}. {Autism Res};2014 (May 23)
Emotion dysregulation is not a formal criterion for the diagnosis of autism spectrum disorder (ASD). However, parents and clinicians have long noted the importance of emotional problems in individuals with ASD (e.g. tantrums and « meltdowns »). In this study, 21 high-functioning children and adolescents with ASD and 22 age and gender group-matched typically developing (TD) controls completed a Reactivity and Regulation Situation Task. This task assesses emotional reactivity and spontaneous use of emotion regulation strategies (problem solving, cognitive reappraisal, avoidance, distraction, venting, suppression, and relaxation) in the context of age-appropriate ambiguous and potentially threatening negative scenarios. After the concept of cognitive reappraisal was explained, the scenarios were presented again to participants, and they were prompted to use this strategy. Results indicated that individuals with ASD exhibited the same level of reactivity to negative stimuli as TD participants. Furthermore, youth with ASD had a different emotion regulation profile than TD individuals, characterized by a less frequent use of cognitive reappraisal and more frequent use of suppression. When prompted to use cognitive reappraisal, participants with ASD were less able to implement reappraisal, but benefitted from this strategy when they were able to generate a reappraisal. Findings from this study suggest that cognitive reappraisal strategies may be useful to children and adolescents with ASD. Therefore, the development of treatment programs that focus on enhancing the use of adaptive forms of emotion regulation might decrease emotional problems and optimize long-term outcomes in youth with ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.

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13. Visser EM, Berger HJ, Prins JB, Van Schrojenstein Lantman-De Valk HM, Teunisse JP. {{Shifting impairment and aggression in intellectual disability and Autism Spectrum Disorder}}. {Res Dev Disabil};2014 (May 28);35(9):2137-2147.

Aggressive behaviour is a major problem in individuals with an intellectual disability (ID) as well as in individuals with an Autism Spectrum Disorder (ASD). There are indications that suggest a link between cognitive shifting and aggression. In this study, reports of aggressive incidents of adolescents and young adults with different clinical diagnoses (ID, ID+ASD, ASD) were collected during 1 year, using the Staff Observation Aggression Scale-Revised. Whether they were diagnosed with ID, ASD or both; individuals who displayed aggression were found to face more cognitive shifting difficulties than non-aggressive individuals, while no significant differences were found on severity of ASD symptoms. Study results support the assumption that a cognition-based model for aggression may be more adequate than a diagnose-based model.

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14. Williams AL, DeSesso JM. {{Gestational/Perinatal chlorpyrifos exposure is not associated with autistic-like behaviors in rodents}}. {Crit Rev Toxicol};2014 (May 27):1-12.

Although animal models cannot exactly replicate human psychiatric disorders, they may be useful to investigate whether the behaviors associated with certain exposures in animals parallel those observed in people. According to the most current version of the Diagnostic and Statistical Manual of Mental Disorders, autism is diagnosed based on (1) persistent deficits in social communication and social interaction; and (2) the presence of restricted, repetitive patterns of behavior, interests and activities. To address whether developmental chlorpyrifos (CPF) exposure was associated with the development of autistic behaviors, a literature search was conducted to identify studies in rats and mice involving gestational or early postnatal exposure to CPF or CPF oxon (CPO, the active metabolite of CPF) and subsequent behavioral testing to assess behaviors related to autism. A total of 13 studies conducted in six different laboratories were identified. Analysis of these studies found that perinatal CPF exposure was generally associated with (1) no effect or increased social communications; (2) no effect or increased social encounters; (3) no effect, reduced stereotypies, or conflicting findings on stereotypic behaviors; and (4) no effect or increased preference for novelty and reduced anxiety in novel environments. These behavioral findings are generally inconsistent with the types of behaviors that would be expected in children with clinical autism. Based on the results of this analysis of rodent model studies involving CPF/CPO exposure, it cannot be concluded that gestational and/or perinatal CPF exposure is likely to be associated with the development of autism-like behaviors in humans.

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