1. Abdala AP, Bissonnette JM, Newman-Tancredi A. {{Pinpointing brainstem mechanisms responsible for autonomic dysfunction in Rett syndrome: therapeutic perspectives for 5-HT1A agonists}}. {Front Physiol};2014;5:205.
Rett syndrome is a neurological disorder caused by loss of function of methyl-CpG-binding protein 2 (MeCP2). Reduced function of this ubiquitous transcriptional regulator has a devastating effect on the central nervous system. One of the most severe and life-threatening presentations of this syndrome is brainstem dysfunction, which results in autonomic disturbances such as breathing deficits, typified by episodes of breathing cessation intercalated with episodes of hyperventilation or irregular breathing. Defects in numerous neurotransmitter systems have been observed in Rett syndrome both in animal models and patients. Here we dedicate special attention to serotonin due to its role in promoting regular breathing, increasing vagal tone, regulating mood, alleviating Parkinsonian-like symptoms and potential for therapeutic translation. A promising new symptomatic strategy currently focuses on regulation of serotonergic function using highly selective serotonin type 1A (5-HT1A) « biased agonists. » We address this newly emerging therapy for respiratory brainstem dysfunction and challenges for translation with a holistic perspective of Rett syndrome, considering potential mood and motor effects.
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2. Buescher AV, Cidav Z, Knapp M, Mandell DS. {{Costs of Autism Spectrum Disorders in the United Kingdom and the United States}}. {JAMA Pediatr};2014 (Jun 9)
IMPORTANCE The economic effect of autism spectrum disorders (ASDs) on individuals with the disorder, their families, and society as a whole is poorly understood and has not been updated in light of recent findings. OBJECTIVE To update estimates of age-specific, direct, indirect, and lifetime societal economic costs, including new findings on indirect costs, such as individual and parental productivity costs, associated with ASDs. DESIGN, SETTING, AND PARTICIPANTS A literature review was conducted of US and UK studies on individuals with ASDs and their families in October 2013 using the following keywords: age, autism spectrum disorder, prevalence, accommodation, special education, productivity loss, employment, costs, and economics. Current data on prevalence, level of functioning, and place of residence were combined with mean annual costs of services and support, opportunity costs, and productivity losses of individuals with ASDs with or without intellectual disability. EXPOSURE Presence of ASDs. MAIN OUTCOMES AND MEASURES Mean annual medical, nonmedical, and indirect economic costs and lifetime costs were measured for individuals with ASDs separately for individuals with and without intellectual disability in the United States and the United Kingdom. RESULTS The cost of supporting an individual with an ASD and intellectual disability during his or her lifespan was $2.4 million in the United States and pound1.5 million (US $2.2 million) in the United Kingdom. The cost of supporting an individual with an ASD without intellectual disability was $1.4 million in the United States and pound0.92 million (US $1.4 million) in the United Kingdom. The largest cost components for children were special education services and parental productivity loss. During adulthood, residential care or supportive living accommodation and individual productivity loss contributed the highest costs. Medical costs were much higher for adults than for children. CONCLUSIONS AND RELEVANCE The substantial direct and indirect economic effect of ASDs emphasizes the need to continue to search for effective interventions that make best use of scarce societal resources. The distribution of economic effect across many different service systems raises questions about coordination of services and sectors. The enormous effect on families also warrants policy attention.
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3. Ezegwui IR, Lawrence L, Aghaji AE, Okoye OI, Okoye O, Onwasigwe EN, Ebigbo PO. {{Refractive errors in children with autism in a developing country}}. {Niger J Clin Pract};2014 (Jul-Aug);17(4):467-470.
Background: In a resource-limited country visual problems of mentally challenged individuals are often neglected. Aim: The present study aims to study refractive errors in children diagnosed with autism in a developing country. Materials and Methods: Ophthalmic examination was carried out on children diagnosed with autism attending a school for the mentally challenged in Enugu, Nigeria between December 2009 and May 2010. Visual acuity was assessed using Lea symbols. Anterior and posterior segments were examined. Cycloplegic refraction was performed. Data was entered on the protocol prepared for the study and analyzed using Statistical Package for the Social Sciences version 17 (Chicago IL, USA). Results: A total of 21 children with autism were enrolled in the school; 18 of whom were examined giving coverage of 85.7%. The age range was 5-15 years, with a mean of 10.28 years (standard deviation +/- 3.20). There were 13 boys and 5 girls. One child had bilateral temporal pallor of the disc and one had bilateral maculopathy with diffuse chorioretinal atrophy. Refraction revealed 4 children (22.2%) had astigmatism and 2 children (11.1%) had hypermetropia. Conclusion: Significant refractive error mainly astigmatism was noted in the children with autism. Identifying refractive errors in these children early and providing appropriate corrective lenses may help optimize their visual functioning and impact their activities of daily life in a positive way.
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4. Garcia-Primo P, Hellendoorn A, Charman T, Roeyers H, Dereu M, Roge B, Baduel S, Muratori F, Narzisi A, Van Daalen E, Moilanen I, de la Paz MP, Canal-Bedia R. {{Screening for autism spectrum disorders: state of the art in Europe}}. {Eur Child Adolesc Psychiatry};2014 (Jun 10)
A large number of studies have reported on the validity of autism spectrum disorder (ASD) screening procedures. An overall understanding of these studies’ findings cannot be based solely on the level of internal validity of each, since screening instruments might perform differently according to certain factors in different settings. Europe has led the field with the development of the first screening tool and first prospective screening study of autism. This paper seeks to provide an overview of ASD screening studies and ongoing programmes across Europe, and identify variables that have influenced the outcomes of such studies. Results show that, to date, over 70,000 children have been screened in Europe using 18 different screening procedures. Differences among findings across studies have enabled us to identify ten factors that may influence screening results. Although it is impossible to draw firm conclusions as to which screening procedure is most effective, this analysis might facilitate the choice of a screening method that best fits a specific scenario, and this, in turn, may eventually improve early ASD detection procedures.
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5. Godler DE, Amor DJ, Slater HR. {{Methylation analysis in newborn screening for fragile x syndrome}}. {JAMA Neurol};2014 (Jun 1);71(6):800.
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6. Gotham K, Unruh K, Lord C. {{Depression and its measurement in verbal adolescents and adults with autism spectrum disorder}}. {Autism};2014 (Jun 10)
In a sample of 50 verbally fluent adolescents and adults with autism spectrum disorders (age: 16-31 years; verbal IQ: 72-140), we examined the pattern of response and associations between scores on common measures of depressive symptoms, participant characteristics, and clinical diagnosis of depressive disorders. Beck Depression Inventory-Second Edition item descriptives in this autism spectrum disorder sample were compared to previously published data from a large typically developing sample, with results suggesting that cognitive-attributional symptoms of depression may be particularly prevalent in autism spectrum disorder. Scores on a variety of self- and parent-report depression measures were not associated with chronological age or verbal IQ, and were relatively highly correlated with each other and with clinical diagnosis of a mood disorder. The Beck Depression Inventory-Second Edition and the Adult Self-Report « Depressive » scale best identified both depressed and non-depressed participants in this sample, though neither was particularly strong. Validation studies of depression measures in the autism spectrum disorder population are necessary to advance research into this prevalent and impairing comorbidity.
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7. Hartley C, Allen ML. {{Iconicity influences how effectively minimally verbal children with autism and ability-matched typically developing children use pictures as symbols in a search task}}. {Autism};2014 (Jun 10)
Previous word learning studies suggest that children with autism spectrum disorder may have difficulty understanding pictorial symbols. Here we investigate the ability of children with autism spectrum disorder and language-matched typically developing children to contextualize symbolic information communicated by pictures in a search task that did not involve word learning. Out of the participant’s view, a small toy was concealed underneath one of four unique occluders that were individuated by familiar nameable objects or unfamiliar unnamable objects. Children were shown a picture of the hiding location and then searched for the toy. Over three sessions, children completed trials with color photographs, black-and-white line drawings, and abstract color pictures. The results reveal zero group differences; neither children with autism spectrum disorder nor typically developing children were influenced by occluder familiarity, and both groups’ errorless retrieval rates were above-chance with all three picture types. However, both groups made significantly more errorless retrievals in the most-iconic photograph trials, and performance was universally predicted by receptive language. Therefore, our findings indicate that children with autism spectrum disorder and young typically developing children can contextualize pictures and use them to adaptively guide their behavior in real time and space. However, this ability is significantly influenced by receptive language development and pictorial iconicity.
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8. Hoffman K, Falcomata TS. {{An evaluation of resurgence of appropriate communication in individuals with autism who exhibit severe problem behavior}}. {J Appl Behav Anal};2014 (Jun 9)
We evaluated resurgence of mands exhibited by 3 individuals with autism and histories of problem behavior. The experimental conditions consisted of (a) reinforcement of a mand, (b) extinction, (c) reinforcement of a 2nd mand, and (d) extinction to test for resurgence of the 1st mand. This 4-component sequence was implemented 3 times with each participant, and resurgence occurred during 8 of 9 tests for resurgence. Results are discussed in terms of implications for the prevention of clinical relapse.
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9. Lambert N, Wermenbol V, Pichon B, Acosta S, van den Ameele J, Perazzolo C, Messina D, Musumeci MF, Dessars B, De Leener A, Abramowicz M, Vilain C. {{A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder}}. {Autism Res};2014 (Jun 6)
Autism spectrum disorder (ASD) results from interactions of genetic and environmental factors. The MET proto-oncogene has been identified as a candidate gene for autism susceptibility, and is implicated in neurodevelopment and social brain circuitry. Here, we describe the first case of a familial mutation of MET, consisting of an interstitial genomic deletion removing exons 12 through 15, causing a frameshift and premature stop codon, with evidence of nonsense-mediated mRNA decay. On the other allele, patients carried the C allele of the MET promoter rs1858830 polymorphism, known to decrease MET expression and previously associated with autism susceptibility. The heterozygous mutation was associated with autism in one patient, and language and social impairment in a sibling. Our observations delineate the phenotypic spectrum associated with a clearly defined, very likely complete loss of function mutation of MET. Incomplete penetrance in this family was consistent with MET as a partial susceptibility gene for ASD. Implication of MET in normal and pathological brain development opens new perspectives for understanding the pathophysiology of autism and for eventual therapeutical clues. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Limprasert P, Maisrikhaw W, Sripo T, Wirojanan J, Hansakunachai T, Roongpraiwan R, Sombuntham T, Ruangdaraganon N, Guo X. {{No association of Val158Met variant in the COMT gene with autism spectrum disorder in Thai children}}. {Psychiatr Genet};2014 (Jun 6)
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11. Lozier LM, Vanmeter JW, Marsh AA. {{Impairments in facial affect recognition associated with autism spectrum disorders: A meta-analysis}}. {Dev Psychopathol};2014 (Jun 10):1-13.
Autism spectrum disorders (ASDs) are characterized by social impairments, including inappropriate responses to affective stimuli and nonverbal cues, which may extend to poor face-emotion recognition. However, the results of empirical studies of face-emotion recognition in individuals with ASD have yielded inconsistent findings that occlude understanding the role of face-emotion recognition deficits in the development of ASD. The goal of this meta-analysis was to address three as-yet unanswered questions. Are ASDs associated with consistent face-emotion recognition deficits? Do deficits generalize across multiple emotional expressions or are they limited to specific emotions? Do age or cognitive intelligence affect the magnitude of identified deficits? The results indicate that ASDs are associated with face-emotion recognition deficits across multiple expressions and that the magnitude of these deficits increases with age and cannot be accounted for by intelligence. These findings suggest that, whereas neurodevelopmental processes and social experience produce improvements in general face-emotion recognition abilities over time during typical development, children with ASD may experience disruptions in these processes, which suggested distributed functional impairment in the neural architecture that subserves face-emotion processing, an effect with downstream developmental consequences.
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12. Mevel K, Fransson P, Bolte S. {{Multimodal brain imaging in autism spectrum disorder and the promise of twin research}}. {Autism};2014 (Jun 10)
Current evidence suggests the phenotype of autism spectrum disorder to be driven by a complex interaction of genetic and environmental factors impacting onto brain maturation, synaptic function, and cortical networks. However, findings are heterogeneous, and the exact neurobiological pathways of autism spectrum disorder still remain poorly understood. The co-twin control or twin-difference design is a potentially powerful tool to disentangle causal genetic and environmental contributions on neurodevelopment in autism spectrum disorder. To this end, monozygotic twins discordant for this condition provide unique means for the maximum control of potentially confounding factors. Unfortunately, only few studies of a rather narrow scope, and limited sample size, have been conducted. In an attempt to highlight the great potential of combining the brain connectome approach with monozygotic twin design, we first give an overview of the existing neurobiological evidence for autism spectrum disorder and its cognitive correlates. Then, a special focus is made onto the brain imaging findings reported within populations of monozygotic twins phenotypically discordant for autism spectrum disorder. Finally, we introduce the brain connectome model and describe an ongoing project using this approach among the largest cohort of monozygotic twins discordant for autism spectrum disorder ever recruited.
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13. Shattuck PT, Roux AM. {{Autism: Moving Toward an Innovation and Investment Mindset}}. {JAMA Pediatr};2014 (Jun 9)
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14. Sterponi L, de Kirby K, Shankey J. {{Rethinking language in autism}}. {Autism};2014 (Jun 10)
In this article, we invite a rethinking of traditional perspectives of language in autism. We advocate a theoretical reappraisal that offers a corrective to the dominant and largely tacitly held view that language, in its essence, is a referential system and a reflection of the individual’s cognition. Drawing on scholarship in Conversation Analysis and linguistic anthropology, we present a multidimensional view of language, showing how it also functions as interactional accomplishment, social action, and mode of experience. From such a multidimensional perspective, we revisit data presented by other researchers that include instances of prototypical features of autistic speech, giving them a somewhat different-at times complementary, at times alternative-interpretation. In doing so, we demonstrate that there is much at stake in the view of language that we as researchers bring to our analysis of autistic speech. Ultimately, we argue that adopting a multidimensional view of language has wide ranging implications, deepening our understanding of autism’s core features and developmental trajectory.
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15. Strunk JA, Pickler R, McCain NL, Ameringer S, Myers BJ. {{Managing the Health Care Needs of Adolescents With Autism Spectrum Disorder: The Parents’ Experience}}. {Fam Syst Health};2014 (Jun 9)
Parents of adolescents with autism spectrum disorder (ASD) experience the challenges of navigating the health care system, locating information about ASD, lacking an understanding of prescribed medications, and experiencing minimal social support from health care providers. The purpose of this phenomenological study was to describe the experiences of parents who manage the health needs of an adolescent with ASD. Qualitative interviews were conducted at a university setting with 12 parents of 10 adolescents with ASD residing in Central Virginia. Data were analyzed using Moustakas’ method in which the phenomenologist asks the following questions: What are the individual’s experiences and in what context did they experience them? This study maximized credibility using 3 strategies: prolonged engagement, peer debriefing, and member checking. « Parents needing assistance » emerged as the essence of the parents’ experiences. Four themes representing the essential challenging elements of the parents’ experiences included concern with medications, frustrations with health care services, recognizing secondary health issues, and the need for resources and services. Findings of the current study revealed key factors to be considered in the development and delivery of health care for adolescents with ASD. These include creating and planning interventions for parents, sharing information about resources and services, and collaborating with others in the health care field. Additional research, both qualitative and quantitative, is needed to understand how parents and adolescents with ASD experience this transitional period. (PsycINFO Database Record (c) 2014 APA, all rights reserved).
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16. Tassone F. {{Methylation analysis in newborn screening for fragile x syndrome-reply}}. {JAMA Neurol};2014 (Jun 1);71(6):800-801.
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17. Veness C, Prior M, Eadie P, Bavin E, Reilly S. {{Predicting autism diagnosis by 7 years of age using parent report of infant social communication skills}}. {J Paediatr Child Health};2014 (Jun 9)
AIM: The aim of this study is to identify social communication skills in infancy which predict autism spectrum disorder (ASD) diagnosis by 7 years as compared with children with other developmental difficulties or typical development from within a population sample. METHODS: Children with an ASD (n = 41), developmental delay (n = 28), language impairment (n = 47) and typical development (n = 41) were drawn from a large, longitudinal community sample following children from 8 months to 7 years of age, the Early Language in Victoria Study. At 7 years of age, early social communication skills at 8, 12 and 24 months from the Communication and Symbolic Behavior Scales Infant-Toddler Checklist and the MacArthur-Bates Communicative Development Inventory: Words and Gestures were compared between groups and used to predict ASD diagnosis. RESULTS: Significant predictors of ASD diagnosis were found from 8 months, predominantly focused on gesture use and communicative behaviours, such as requesting and joint attention. While comparisons between children with ASD and children with language impairment and typical development revealed differences from 8 months of age, the developmental delay group did not differ significantly from ASD on any measure until 24 months of age. At 24 months, children with ASD had lower Communication and Symbolic Behavior Scales Use of Communication scores as compared with all other groups. CONCLUSIONS: The capacity to identify early markers of ASD should facilitate awareness of the risk of an ASD as compared with other developmental problems and point to the need for further developmental assessment, monitoring and provision of early intervention if indicated.
