1. Bacchelli E, Battaglia A, Cameli C, Lomartire S, Tancredi R, Thomson S, Sutcliffe JS, Maestrini E. {{Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility}}. {Am J Med Genet A};2015 (Feb 5)
Chromosome 15q13.3 recurrent microdeletions are causally associated with a wide range of phenotypes, including autism spectrum disorder (ASD), seizures, intellectual disability, and other psychiatric conditions. Whether the reciprocal microduplication is pathogenic is less certain. CHRNA7, encoding for the alpha7 subunit of the neuronal nicotinic acetylcholine receptor, is considered the likely culprit gene in mediating neurological phenotypes in 15q13.3 deletion cases. To assess if CHRNA7 rare variants confer risk to ASD, we performed copy number variant analysis and Sanger sequencing of the CHRNA7 coding sequence in a sample of 135 ASD cases. Sequence variation in this gene remains largely unexplored, given the existence of a fusion gene, CHRFAM7A, which includes a nearly identical partial duplication of CHRNA7. Hence, attempts to sequence coding exons must distinguish between CHRNA7 and CHRFAM7A, making next-generation sequencing approaches unreliable for this purpose. A CHRNA7 microduplication was detected in a patient with autism and moderate cognitive impairment; while no rare damaging variants were identified in the coding region, we detected rare variants in the promoter region, previously described to functionally reduce transcription. This study represents the first sequence variant analysis of CHRNA7 in a sample of idiopathic autism. (c) 2015 Wiley Periodicals, Inc.
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2. Baranek GT, Watson LR, Turner-Brown L, Field SH, Crais ER, Wakeford L, Little LM, Reznick JS. {{Preliminary efficacy of adapted responsive teaching for infants at risk of autism spectrum disorder in a community sample}}. {Autism Res Treat};2015;2015:386951.
This study examined the (a) feasibility of enrolling 12-month-olds at risk of ASD from a community sample into a randomized controlled trial, (b) subsequent utilization of community services, and (c) potential of a novel parent-mediated intervention to improve outcomes. The First Year Inventory was used to screen and recruit 12-month-old infants at risk of ASD to compare the effects of 6-9 months of Adapted Responsive Teaching (ART) versus referral to early intervention and monitoring (REIM). Eighteen families were followed for ~20 months. Assessments were conducted before randomization, after treatment, and at 6-month follow-up. Utilization of community services was highest for the REIM group. ART significantly outperformed REIM on parent-reported and observed measures of child receptive language with good linear model fit. Multiphase growth models had better fit for more variables, showing the greatest effects in the active treatment phase, where ART outperformed REIM on parental interactive style (less directive), child sensory responsiveness (less hyporesponsive), and adaptive behavior (increased communication and socialization). This study demonstrates the promise of a parent-mediated intervention for improving developmental outcomes for infants at risk of ASD in a community sample and highlights the utility of earlier identification for access to community services earlier than standard practice.
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3. Crippa A, Salvatore C, Perego P, Forti S, Nobile M, Molteni M, Castiglioni I. {{Use of Machine Learning to Identify Children with Autism and Their Motor Abnormalities}}. {J Autism Dev Disord};2015 (Feb 5)
In the present work, we have undertaken a proof-of-concept study to determine whether a simple upper-limb movement could be useful to accurately classify low-functioning children with autism spectrum disorder (ASD) aged 2-4. To answer this question, we developed a supervised machine-learning method to correctly discriminate 15 preschool children with ASD from 15 typically developing children by means of kinematic analysis of a simple reach-to-drop task. Our method reached a maximum classification accuracy of 96.7 % with seven features related to the goal-oriented part of the movement. These preliminary findings offer insight into a possible motor signature of ASD that may be potentially useful in identifying a well-defined subset of patients, reducing the clinical heterogeneity within the broad behavioral phenotype.
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4. Dager SR, Corrigan NM, Shaw DW. {{Brain lactate as a potential biomarker for comorbid anxiety disorder in autism spectrum disorder}}. {JAMA Psychiatry};2015 (Feb 1);72(2):190.
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5. Davidovitch M, Levit-Binnun N, Golan D, Manning-Courtney P. {{Late Diagnosis of Autism Spectrum Disorder After Initial Negative Assessment by a Multidisciplinary Team}}. {J Dev Behav Pediatr};2015 (Feb 2)
OBJECTIVE:: Describe a cohort of children who received a diagnosis of autism spectrum disorder (ASD) after age 6 and after having undergone a comprehensive multidisciplinary assessment before the age of 6, through which they were not diagnosed with ASD. METHODS:: Extensive chart review of patients’ electronic medical records comprised a representative population-based registry of patients seen during 2004 to 2011. The study focused only on the cohort of children who were diagnosed with ASD after the age of 6 but were not diagnosed with ASD at an earlier age. The charts were reviewed for the number of developmental assessments completed and the clinician’s diagnostic impressions. The charts were also examined for documentation of ASD-suggestive features pulled directly from the text of the evaluators’ reports. RESULTS:: A total of 221 patients (189 males) were diagnosed with ASD after age 6 although their initial comprehensive developmental evaluations before the age of 6 were negative for ASD. The study cohort underwent a total of 1028 developmental evaluations before the age of 6, with initial diagnostic impressions that included language deficits (70%), motor difficulties (67%), attention problems (46%), and cognitive difficulties (42%). Less than half of the cohort had ASD-suggesting features documented in their initial assessment. CONCLUSIONS:: Subsequent late diagnosis of ASD after an initial ASD-negative comprehensive assessment is a common clinical experience. Reasons for this scenario may include evolving diagnosis as well as missed and overdiagnosed cases of ASD.
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6. Fellowes S. {{Did Kanner Actually Describe the First Account of Autism? The Mystery of 1938}}. {J Autism Dev Disord};2015 (Feb 5)
Kanner opens his pioneering 1943 paper on autism by making a mysterious mention of the year 1938. Recent letters to the editor of this journal have disagreed over a particular interpretation-does 1938 refer to an early paper by Asperger, effectively meaning Kanner plagiarised Asperger? I argue 1938 refers to a paper by Louise Despert. This was not plagiarism but a case of building on Despert’s ideas. Additionally, I suggest his motives for not mentioning her by name were not dishonourable.
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7. Koch SV, Larsen JT, Mouridsen SE, Bentz M, Petersen L, Bulik C, Mortensen PB, Plessen KJ. {{Autism spectrum disorder in individuals with anorexia nervosa and in their first- and second-degree relatives: Danish nationwide register-based cohort-study}}. {Br J Psychiatry};2015 (Feb 5)
Background Clinical and population-based studies report increased prevalence of autism spectrum disorders (ASD) in individuals with anorexia nervosa and in their relatives. No nationwide study has yet been published on co-occurrence of these disorders. Aims To investigate comorbidity of ASD in individuals with anorexia nervosa, and aggregation of ASD and anorexia nervosa in their relatives. Method In Danish registers we identified all individuals born in 1981-2008, their parents, and full and half siblings, and linked them to data on hospital admissions for psychiatric disorders. Results Risk of comorbidity of ASD in probands with anorexia nervosa and aggregation of ASD in families of anorexia nervosa probands were increased. However, the risk of comorbid and familial ASD did not differ significantly from comorbid and familial major depression or any psychiatric disorder in anorexia nervosa probands. Conclusions We confirm aggregation of ASD in probands with anorexia nervosa and in their relatives; however, the relationship between anorexia nervosa and ASD appears to be non-specific.
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8. Parra MA, Cubelli R, Bellamy KJ, Abrahams S, Avila CL, Castro-Jaramillo LD, Della Sala S. {{Gist-based illusions within and across stimulus modalities in autism spectrum disorder}}. {Memory};2015 (Feb 4):1-11.
Some studies have reported a low rate of false recognition (FR) in individuals with autism spectrum disorder (ASD) relative to non-autistic comparison participants (CPs). This finding, however, has not always been replicated and the source of the discrepancy remains unknown. We hypothesised that poor episodic memory functions may account for this finding. We used an adapted version of the Deese, Roediger and McDermott paradigm which presents lists of words, pictures or word-picture pairs to obtain measures of performance which reflect episodic [hits and false alarms (FAs)] and semantic (FR) memory functions. Results showed a decreased rate of FR in ASD individuals with lists of words which rose above the rate seen in non-autistic CPs with lists of word-picture pairs. This increased rate of FR in ASD was accompanied by a parallel increase in hits and a decrease in FA which reached a similar level in the two groups. Poor episodic memory functions may prevent individuals with ASD from acquiring item information which in turn precludes the formation of semantic links between items. This could render them less prone to FR.
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9. Peterson BS, Goh S, Dong Z. {{Brain lactate as a potential biomarker for comorbid anxiety disorder in autism spectrum disorder-reply}}. {JAMA Psychiatry};2015 (Feb 1);72(2):190-191.
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10. Ratni H, Rogers-Evans M, Bissantz C, Grundschober C, Moreau JL, Schuler F, Fischer H, Alvarez-Sanchez R, Schnider P. {{Discovery of highly selective brain-penetrant vasopressin 1a antagonists for the potential treatment of autism via a chemogenomic and scaffold hopping approach}}. {J Med Chem};2015 (Feb 5)
From a micromolar high throughput screening hit 7, the successful complementary application of a chemogenomic approach and of a scaffold hopping exercise led very rapidly to a low single digit nanomolar human vasopressin 1a (hV1a) receptor antagonist 38. Initial optimization of the mouse V1a activities delivered suitable tool compounds which demonstrated a V1a mediated central in vivo effect. This novel series was further optimized through parallel synthesis with a focus on balancing lipophilicity to achieve robust aqueous solubility while avoiding P-gp mediated efflux. These efforts led to the discovery of the highly potent and selective brain-penetrant hV1a antagonist RO5028442 (8) suitable for human clinical studies in people with autism.
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11. Schumacher J, Strand KE, Augustyn M. {{Apraxia, autism, attention-deficit hyperactivity disorder: do we have a new spectrum?}}. {J Dev Behav Pediatr};2015 (Feb-Mar);36(2):124-126.
CASE: Gio is a bilingual 6-year 10-month-old boy new to your practice who presents for an unscheduled visit with concerns for speech and language delay. He was born in Portugal, and his native language is Portuguese. When he was 21 months old, his family moved to Italy and then moved to the United States 3 years later. He had very little contact with other children while living in Italy, but his parents report that he has made friends quickly in the United States. His family speaks Portuguese at home, although his father is fluent in English.He started school 3 months after moving to the United States and is currently repeating kindergarten. He is in a sheltered English classroom with several other students who speak Portuguese. He is able to understand and follow directions in English. A recent school evaluation revealed solidly average nonverbal reasoning skills and relative weaknesses in verbal reasoning and working memory. His speech is described as unintelligible in conversation, both in English and Portuguese.Results of a special education evaluation qualified him for services with a bilingual therapist. His teachers are very concerned that he may have autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). They describe him as having limited interest in other children, poor eye contact, and hypersensitivities. He wanders at recess. He is very skilled at art and seems to prefer to draw rather than interact with others. He needs constant support and redirection throughout the school day. He has difficulty putting on his coat, using playground equipment, and following daily classroom routines. On the Vanderbilt Rating Scale, his teacher endorses 17 of 18 ADHD symptoms as present often or very often and significant impairment in his performance.Gio presents to your clinic as a relatable young boy with childhood apraxia of speech. Only his productions of single words and short routine phrases are intelligible. He attempts to engage in conversation but averts his gaze and becomes frustrated when asked to repeat things. Scores on the Parent Conners Rating Scale and Social Responsiveness Scale are not elevated. When you bring up school’s concerns, his father describes feeling somewhat badgered by his teachers about possibility of ASD.School is considering placement in an inclusion classroom for children with ASD. What do you recommend? How would you advise his parents?
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12. Shimamoto C, Ohnishi T, Maekawa M, Watanabe A, Ohba H, Arai R, Iwayama Y, Hisano Y, Toyota T, Toyoshima M, Suzuki K, Shirayama Y, Nakamura K, Mori N, Owada Y, Kobayashi T, Yoshikawa T. {{Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies}}. {Hum Mol Genet};2015 (Feb 5)
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13. Stewart CR, Sanchez SS, Grenesko EL, Brown CM, Chen CP, Keehn B, Velasquez F, Lincoln AJ, Muller RA. {{Sensory Symptoms and Processing of Nonverbal Auditory and Visual Stimuli in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Feb 5)
Atypical sensory responses are common in autism spectrum disorder (ASD). While evidence suggests impaired auditory-visual integration for verbal information, findings for nonverbal stimuli are inconsistent. We tested for sensory symptoms in children with ASD (using the Adolescent/Adult Sensory Profile) and examined unisensory and bisensory processing with a nonverbal auditory-visual paradigm, for which neurotypical adults show bisensory facilitation. ASD participants reported more atypical sensory symptoms overall, most prominently in the auditory modality. On the experimental task, reduced response times for bisensory compared to unisensory trials were seen in both ASD and control groups, but neither group showed significant race model violation (evidence of intermodal integration). Findings do not support impaired bisensory processing for simple nonverbal stimuli in high-functioning children with ASD.
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14. Xu W, Fu Z, Wang J, Zhang Y. {{RELATIONSHIP BETWEEN AUTISTIC TRAITS AND HOARDING IN A LARGE NON-CLINICAL CHINESE SAMPLE: MEDIATING EFFECT OF ANXIETY AND DEPRESSION}}. {Psychol Rep};2015 (Feb 4)
Summary.-Researchers and clinical practitioners have found that hoarding appears in many autism patients and that most of these patients show high anxiety and depression. There is no consensus on the relationship between autistic traits and hoarding, and little research concerning the role of negative emotions. This study investigated the relationship between autistic traits and hoarding in a large non-clinical Chinese sample. Participants were 3,229 university students (M age = 20.5 yr., SD = 1.6; 1,839 men) who were recruited in classroom. They completed measures of hoarding, autistic symptomology, anxiety, and depression: specifically the Saving Inventory-Revised, the Autism-Spectrum Quotient, the Zung Self-Rating Anxiety Scale, and The Center for Epidemiological Studies Depression Scale. Mediating effects of anxiety and depression in the correlation between autistic traits and hoarding were also explored. There was a weak but significant correlation between autistic traits and hoarding. Significant mediating effects of anxiety and depression were observed. Hoarding in people with high autistic traits could be influenced by anxiety and depression.
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15. Zablotsky B, Pringle BA, Colpe LJ, Kogan MD, Rice C, Blumberg SJ. {{Service and treatment use among children diagnosed with autism spectrum disorders}}. {J Dev Behav Pediatr};2015 (Feb-Mar);36(2):98-105.
OBJECTIVE: Children diagnosed with autism spectrum disorder (ASD) require substantial support to address not only core ASD symptoms but also a range of co-occurring conditions. This study explores treatment and service use among children with ASD with and without intellectual disability (ID) and parents’ perception of unmet needs from these treatments. METHODS: Data were retrieved from a probability-based national sample of 2077 children diagnosed with ASD, ID, or both (ASD and ID). Weighted multivariate logistic regressions examined differences between diagnostic groups for current medication and service utilization with a subanalysis exploring differences among those with co-occurring psychiatric conditions. Additional modeling examined parents’ perception of unmet needs. RESULTS: Children diagnosed with ASD and ID were significantly more likely to be receiving current medication and services when compared with children with ID only or ASD only. Children with a co-occurring psychiatric diagnosis, from all 3 diagnostic groups, were more likely to be receiving a current medication, but not more likely to be receiving a current service when compared with children without a co-occurring psychiatric diagnosis. Children with ASD and a co-occurring psychiatric diagnosis were significantly more likely to have parents who reported unmet needs when compared with parents of children with ASD without a co-occurring psychiatric diagnosis. CONCLUSIONS: Children diagnosed with ASD and ID, especially those with a comorbid psychiatric condition, represent a vulnerable population with substantial rates of current service (98%) and medication (67%) usage, but despite these high rates, approximately 30% of parents report that their child’s developmental needs are still not being met by their current treatment and services.
