1. Agius MM, Vance M. {{A Comparison of PECS and iPad to Teach Requesting to Pre-schoolers with Autistic Spectrum Disorders}}. {Augment Altern Commun};2015 (Nov 20):1-11.
Few studies have compared the efficacy of the Picture Exchange Communication System (PECS) and iPads used as speech generating devices (SGDs), and none have targeted preschoolers. This study compares the relative efficacy of PECS and an iPad/SGD with three preschool-aged children with autism spectrum disorder and limited functional speech who lived in Malta. The study utilized an adapted alternating treatment design embedded in a multiple baseline design, with requesting of reinforcers as the dependent variable. Visual analysis of the results indicated that all participants required more prompted trials and sessions for the iPad/SGD condition. All participants learned a three step navigational sequence on the iPad. Participant preference probes were inconclusive and were not linked to speed of acquisition of requesting skills. Results suggest that both PECS and an iPad could be appropriate for teaching requesting skills to beginning communicators.
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2. Brooks BA, Haynes K, Smith J, McFadden T, Robins DL. {{Implementation of Web-Based Autism Screening in an Urban Clinic}}. {Clin Pediatr (Phila)};2015 (Nov 18)
Screening toddlers for autism spectrum disorder (ASD) with the Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R) has been shown to lower age of diagnosis by 2 years. In order to streamline ASD screening, research is exploring the use of web-based screening during well-child checkups. The current study examined implementation of the web-based M-CHAT-R in an urban pediatric clinic in Atlanta, Georgia. Toddlers (N = 2557; 87% African American) were screened during well-child visits (Mage = 22.43 months, SD = 3.65). Using the web-based version resulted in a 58.5% increase in the number of cases screened per month. A similar proportion of toddlers in each modality screened positive (P = .43), but significantly fewer children were missing « Follow-up » in the web-based administration (P < .001). These results suggest that it is feasible to implement web-based screening in underserved populations. Future research is necessary to understand factors that facilitate successful implementation of web-based ASD screening.
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3. Burrows CA, Usher LV, Schwartz CB, Mundy PC, Henderson HA. {{Supporting the Spectrum Hypothesis: Self-Reported Temperament in Children and Adolescents with High Functioning Autism}}. {J Autism Dev Disord};2015 (Nov 20)
This study tested the spectrum hypothesis, which posits that children and adolescents with high functioning autism (HFA) differ quantitatively but not qualitatively from typically developing peers on self-reported temperament. Temperament refers to early-appearing, relatively stable behavioral and emotional tendencies, which relate to maladaptive behaviors across clinical populations. Quantitatively, participants with HFA (N = 104, aged 10-16) self-reported less surgency and more negative affect but did not differ from comparison participants (N = 94, aged 10-16) on effortful control or affiliation. Qualitatively, groups demonstrated comparable reliability of self-reported temperament and associations between temperament and parent-reported behavior problems. These findings support the spectrum hypothesis, highlighting the utility of self-report temperament measures for understanding individual differences in comorbid behavior problems among children and adolescents with HFA.
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4. Burrows EL, Laskaris L, Koyama L, Churilov L, Bornstein JC, Hill-Yardin EL, Hannan AJ. {{A neuroligin-3 mutation implicated in autism causes abnormal aggression and increases repetitive behavior in mice}}. {Mol Autism};2015;6:62.
BACKGROUND: Aggression is common in patients with autism spectrum disorders (ASD) along with the core symptoms of impairments in social communication and repetitive behavior. Risperidone, an atypical antipsychotic, is widely used to treat aggression in ASD. In order to understand the neurobiological underpinnings of these challenging behaviors, a thorough characterisation of behavioral endophenotypes in animal models is required. METHODS: We investigated aggression in mice containing the ASD-associated R451C (arginine to cysteine residue 451 substitution) mutation in neuroligin-3 (NL3). Furthermore, we sought to verify social interaction impairments and assess olfaction, anxiety, and repetitive and restrictive behavior in NL3R451C mutant mice. RESULTS: We show a pronounced elevation in aggressive behavior in NL3R451C mutant mice. Treatment with risperidone reduced this aggression to wild-type (WT) levels. Juvenile and adult social interactions were also investigated, and subtle differences in initiation of interaction were seen in juvenile NL3R451C mice. No genotype differences in olfactory discrimination or anxiety were observed indicating that aggression was not dependent on altered olfaction, stress response, or social preference. We also describe repetitive behavior in NL3R451C mice as assessed by a clinically relevant object exploration task. CONCLUSIONS: The presence of aberrant aggression and other behavioral phenotypes in NL3R451C mice consistent with clinical traits strengthen face validity of this model of ASD. Furthermore, we demonstrate predictive validity in this model through the reversal of the aggressive phenotype with risperidone. This is the first demonstration that risperidone can ameliorate aggression in an animal model of ASD and will inform mechanistic and therapeutic research into the neurobiology underlying abnormal behaviors in ASD.
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5. Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H. {{Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder}}. {J Hum Genet};2015 (Nov 19)
Autism spectrum disorder (ASD) is a complex group of clinically heterogeneous neurodevelopmental disorders with unclear etiology and pathogenesis. Genetic studies have identified numerous candidate genetic variants, including de novo mutated ASD-associated genes; however, the function of these de novo mutated genes remains unclear despite extensive bioinformatics resources. Accordingly, it is not easy to assign priorities to numerous candidate ASD-associated genes for further biological analysis. Here we developed a convenient system for identifying an experimental evidence-based annotation of candidate ASD-associated genes. We performed trio-based whole-exome sequencing in 30 sporadic cases of ASD and identified 37 genes with de novo single-nucleotide variations (SNVs). Among them, 5 of those 37 genes, POGZ, PLEKHA4, PCNX, PRKD2 and HERC1, have been previously reported as genes with de novo SNVs in ASD; and consultation with in silico databases showed that only HERC1 might be involved in neural function. To examine whether the identified gene products are involved in neural functions, we performed small hairpin RNA-based assays using neuroblastoma cell lines to assess neurite development. Knockdown of 8 out of the 14 examined genes significantly decreased neurite development (P<0.05, one-way analysis of variance), which was significantly higher than the number expected from gene ontology databases (P=0.010, Fisher's exact test). Our screening system may be valuable for identifying the neural functions of candidate ASD-associated genes for further analysis and a substantial portion of these genes with de novo SNVs might have roles in neuronal systems, although further detailed analysis might eliminate false positive genes from identified candidate ASD genes.Journal of Human Genetics advance online publication, 19 November 2015; doi:10.1038/jhg.2015.141.
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6. Kamin DS, Freiberger D, Daly KP, Oliva M, Helfand L, Haynes K, Harrison CH, Kim HB. {{What Is the Role of Developmental Disability in Patient Selection for Pediatric Solid Organ Transplantation?}}. {Am J Transplant};2015 (Nov 20)
The National Organ Transplant Act stipulates that deceased donor organs should be justly and wisely allocated based on sound medical criteria. Allocation schemes are consistent across the country, and specific policies are publicly vetted. Patient selection criteria are largely in the hands of individual organ transplant programs, and consistent standards are less evident. This has been particularly apparent for patients with developmental disabilities (DDs). In response to concerns regarding the fairness of transplant evaluations for patients with DDs, we developed a transplant centerwide policy using a multidisciplinary, community-based approach. This publication details the particular policy of our center. All patients should receive individualized assessments using consistent standards; disability should be neither a relative nor an absolute contraindication to transplantation. External review can increase trust in the selection process. Patients in persistent vegetative states should not be listed for transplantation.
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7. Nikolaou KN, Gournellis R, Michopoulos I, Dervenoulas G, Christodoulou C, Douzenis A. {{Neurotoxic syndrome induced by clomipramine plus risperidone in a patient with autistic spectrum disorder: serotonin or neuroleptic malignant syndrome?}}. {Ann Gen Psychiatry};2015;14:38.
To the best of our knowledge, there are no case studies of serotonin syndrome (SS) in patients with autism spectrum disorder. We report the case of a 33-year-old male who presented SS under the combined use of clomipramine and risperidone. More specifically, within 2 days after clomipramine (10 mg/BID-two times a day) was added to risperidone (4 mg/OD-once a day), mirtazapine 45 mg/OD and alprazolam (0,5 mg/TID-three times a day) he began to present mental, neurological and autonomic symptoms. All his psychopathological manifestations and laboratory findings normalized after the above-mentioned drugs’ discontinuation, and the administration of supportive medical care and lorazepam 2,5 mg/TID. The diagnosis of serotonin syndrome was challenging due to the relatively low dose of clomipramine, an increase of risperidone which had taken place before clomipramine administration and clinical symptoms which could be attributed to both serotonin and neuroleptic malignant syndrome.
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8. Sahin M, Sur M. {{Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders}}. {Science};2015 (Nov 20);350(6263)
Research in the genetics of neurodevelopmental disorders such as autism suggests that several hundred genes are likely risk factors for these disorders. This heterogeneity presents a challenge and an opportunity at the same time. Although the exact identity of many of the genes remains to be discovered, genes identified to date encode proteins that play roles in certain conserved pathways: protein synthesis, transcriptional and epigenetic regulation, and synaptic signaling. The next generation of research in neurodevelopmental disorders must address the neural circuitry underlying the behavioral symptoms and comorbidities, the cell types playing critical roles in these circuits, and common intercellular signaling pathways that link diverse genes. Results from clinical trials have been mixed so far. Only when we can leverage the heterogeneity of neurodevelopmental disorders into precision medicine will the mechanism-based therapeutics for these disorders start to unlock success.
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9. Turowetz J, Maynard DW. {{Category attribution as a device for diagnosis: fitting children to the autism spectrum}}. {Sociol Health Illn};2015 (Nov 20)
The practice of medicine involves applying abstract diagnostic classifications to individual patients. Patients present with diverse histories and symptoms, and clinicians are tasked with fitting them into generic categories. They must also persuade patients, or family members, that the diagnosis is appropriate and elicit compliance with prescribed treatments. This can be especially challenging with psychiatric disorders such as autism, for which there are no clear biomarkers. In this paper, we explicate a discursive procedure, which we term category attribution. The procedure juxtaposes a narrative about the child with a claim about members of a clinically relevant category, in this case, either children with autism or typically/normally developing children. The attribution procedure carries the implication that the child does or does not belong to that category. We show that category attributions are organised in a recurrent interactional sequence. Further, we argue that category attributions encode normative expectations about child development, such that the child is rendered typical or atypical relative to clinical and social norms. Accordingly, such categorisation devices have a moral dimension as well as a clinical one.
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10. Watkins L, Kuhn M, Ledbetter-Cho K, Gevarter C, O’Reilly M. {{Evidence-Based Social Communication Interventions for Children with Autism Spectrum Disorder}}. {Indian J Pediatr};2015 (Nov 19)
Impairments in social communication skills are a core feature of autism spectrum disorder (ASD) and include deficits in social-emotional reciprocity, non-verbal communicative behaviors used for social interaction, and developing, maintaining, and understanding relationships. In order to improve outcomes for children with ASD, much research has been focused on developing effective interventions to treat these social communication deficits. The purpose of this paper is to highlight the evidence-based practices found within the intervention literature that specifically targets social communication impairments and provide an overview of these strategies. Four relevant themes regarding evidence-based social communication interventions are considered and discussed: (a) social communication outcomes and practices relevant to different stages of development, (b) practices that both reduce interfering behaviors and improve social communication skills
