1. Barton ML, Robins DL, Jashar D, Brennan L, Fein D. {{Sensitivity and Specificity of Proposed DSM-5 Criteria for Autism Spectrum Disorder in Toddlers}}. {J Autism Dev Disord};2013 (Mar 31)
Autism spectrum disorder (ASD) diagnosis is based on behavioral presentation; changes in conceptual models or defining behaviors may significantly impact diagnosis and uptake of ASD-specific interventions. The literature examining impact of DSM-5 criteria is equivocal. Toddlers may be especially vulnerable to the stringent requirements of impairment in all three social-communication symptoms and two restricted/repetitive symptoms. Receiver operating characteristic (ROC) curves identified optimal cutoffs for sums of ADOS and ADI-R criteria mapped to each criterion for 422 toddlers. The optimal modification of DSM-5 criteria (sensitivity = 0.93, specificity = 0.74) required meeting the ROC-determined cutoffs for 2/3 Domain A criteria and 1 point for 1/4 Domain B criteria. This modification will help insure that ASD is identified accurately in young children, facilitating ASD-specific early intervention.
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2. Bekhet AK, Zauszniewski JA. {{Psychometric assessment of the depressive cognition scale among caregivers of persons with autism spectrum disorder}}. {Arch Psychiatr Nurs};2013 (Apr);27(2):96-100.
Caregivers of persons with autism spectrum disorders (ASD) are prone to depression, and early identification of cognitive depressive symptoms is important to prevent the development of clinical depression. The Depressive Cognition Scale (DCS) can be used for early detection, but the scale’s psychometrics has not been tested in caregivers of persons with ASD. In this study, 95 caregivers of persons with ASD completed the eight-item DCS and measures of caregiver burden and resourcefulness. A Cronbach’s alpha of .90 indicated internal consistency. Construct validity was supported by significant correlations with caregiver burden (.59) and resourcefulness (-.57). Principal component factor analysis produced a single factor with 58% of the variance explained. The findings suggest the DCS is useful for early detection of depression in caregivers of persons with ASD.
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3. Belgard TG, Jankovic I, Lowe JK, Geschwind DH. {{Population structure confounds autism genetic classifier}}. {Mol Psychiatry};2013 (Apr 2)
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4. Botbol M, Cabon P, Kermarrec S, Tordjmanl S. {{Biological and psychological rhythms: an integrative approach to rhythm disturbances in autistic disorder}}. {J Physiol Paris};2013 (Mar 28)
Biological rhythms are crucial phenomena that are perfect examples of the adaptation of organisms to their environment. A considerable amount of work has described different types of biological rhythms (from circadian to ultradian), individual differences in their patterns and the complexity of their regulation. In particular, the regulation and maturation of the sleep-wake cycle have been thoroughly studied. Its desynchronization, both endogenous and exogenous, is now well understood, as are its consequences for cognitive impairments and health problems. From a completely different perspective, psychoanalysts have shown a growing interest in the rhythms of psychic life. This interest extends beyond the original focus of psychoanalysis on dreams and the wake-sleep cycle, incorporating central theoretical and practical psychoanalytic issues related to the core functioning of the psychic life: the rhythmic structures of drive dynamics, intersubjective developmental processes and psychic containment functions. Psychopathological and biological approaches to the study of infantile autism reveal the importance of specific biological and psychological rhythmic disturbances in this disorder. Considering data and hypotheses from both perspectives, this paper proposes an integrative approach to the study of these rhythmic disturbances and offers an etiopathogenic hypothesis based on this integrative approach.
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5. Brock J, Bzishvili S, Reid M, Hautus M, Johnson BW. {{Brief Report: Atypical Neuromagnetic Responses to Illusory Auditory Pitch in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Mar 31)
Atypical auditory perception is a widely recognised but poorly understood feature of autism. In the current study, we used magnetoencephalography to measure the brain responses of 10 autistic children as they listened passively to dichotic pitch stimuli, in which an illusory tone is generated by sub-millisecond inter-aural timing differences in white noise. Relative to control stimuli that contain no inter-aural timing differences, dichotic pitch stimuli typically elicit an object related negativity (ORN) response, associated with the perceptual segregation of the tone and the carrier noise into distinct auditory objects. Autistic children failed to demonstrate an ORN, suggesting a failure of segregation; however, comparison with the ORNs of age-matched typically developing controls narrowly failed to attain significance. More striking, the autistic children demonstrated a significant differential response to the pitch stimulus, peaking at around 50 ms. This was not present in the control group, nor has it been found in other groups tested using similar stimuli. This response may be a neural signature of atypical processing of pitch in at least some autistic individuals.
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6. Busquets-Garcia A, Gomis-Gonzalez M, Guegan T, Agustin-Pavon C, Pastor A, Mato S, Perez-Samartin A, Matute C, de la Torre R, Dierssen M, Maldonado R, Ozaita A. {{Targeting the endocannabinoid system in the treatment of fragile X syndrome}}. {Nat Med};2013 (Mar 31)
Fragile X syndrome (FXS), the most common monogenic cause of inherited intellectual disability and autism, is caused by the silencing of the FMR1 gene, leading to the loss of fragile X mental retardation protein (FMRP), a synaptically expressed RNA-binding protein regulating translation. The Fmr1 knockout model recapitulates the main traits of the disease. Uncontrolled activity of metabotropic glutamate receptor 5 (mGluR5) and mammalian target of rapamycin (mTOR) signaling seem crucial in the pathology of this disease. The endocannabinoid system (ECS) is a key modulator of synaptic plasticity, cognitive performance, anxiety, nociception and seizure susceptibility, all of which are affected in FXS. The cannabinoid receptors CB1 (CB1R) and CB2 (CB2R) are activated by phospholipid-derived endocannabinoids, and CB1R-driven long-term regulation of synaptic strength, as a consequence of mGluR5 activation, is altered in several brain areas of Fmr1 knockout mice. We found that CB1R blockade in male Fmr1 knockout (Fmr1-/y) mice through pharmacological and genetic approaches normalized cognitive impairment, nociceptive desensitization, susceptibility to audiogenic seizures, overactivated mTOR signaling and altered spine morphology, whereas pharmacological blockade of CB2R normalized anxiolytic-like behavior. Some of these traits were also reversed by pharmacological inhibition of mTOR or mGluR5. Thus, blockade of ECS is a potential therapeutic approach to normalize specific alterations in FXS.
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7. Chin RY, Moran T, Fenton JE. {{The otological manifestations associated with autistic spectrum disorders}}. {Int J Pediatr Otorhinolaryngol};2013 (Mar 28)
OBJECTIVES: To elucidate the otological manifestations found in this increasingly commonly diagnosed condition. This paper will discuss the diagnosis, aetiology, pathogenesis, management and the outcomes of treatment. STUDY DESIGN: Systematic literature review. MATERIALS AND METHODS: The following databases were searched for articles pertaining to the otological manifestations of autistic spectrum disorders: MEDLINE, EMBASE, CURRENT CONTENTS, PSYCHLIT, CINAHL and HEALTHSTAR. Articles from 1965 to June 2012 were extracted. Relevant articles from the literature were selected and reviewed by two independent authors. Each paper was assessed as to its level of evidence and validity. The relevant results are presented and discussed in order to present a practical approach to the management of these patients. RESULTS: Patients with ASD have an increased incidence of peripheral and central otological pathology. This pathology plays a key role in the behavioural, communication, and social aspects of the disease. ASD patients have a higher incidence of profound sensorineural hearing loss, middle ear infections, and abnormalities of the cochlear nerve and brainstem auditory pathways. There are cortical and brainstem neurodevelopmental abnormalities in the way auditory information is interpreted and processed in the ASD patient. CONCLUSIONS: The otolaryngologist plays a key role in the multidisciplinary management of individuals with ASD due to the high prevalence of otological pathology amongst these patients. Early diagnosis and expedient treatment focusing on normalisation of auditory input and development can maximise developmental outcomes.
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8. Cochran D. {{The Autisms, 4th edition}}. {Psychiatr Serv};2013 (Apr 1);64(4):e05.
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9. Di Martino A, Zuo XN, Kelly C, Grzadzinski R, Mennes M, Schvarcz A, Rodman J, Lord C, Castellanos FX, Milham MP. {{Shared and Distinct Intrinsic Functional Network Centrality in Autism and Attention-Deficit/Hyperactivity Disorder}}. {Biol Psychiatry};2013 (Mar 28)
BACKGROUND: Individuals with autism spectrum disorders (ASD) often exhibit symptoms of attention-deficit/hyperactivity disorder (ADHD). Across both disorders, observations of distributed functional abnormalities suggest aberrant large-scale brain network connectivity. Yet, common and distinct network correlates of ASD and ADHD remain unidentified. Here, we aimed to examine patterns of dysconnection in school-age children with ASD and ADHD and typically developing children who completed a resting state functional magnetic resonance imaging scan. METHODS: We measured voxelwise network centrality, functional connectivity metrics indexing local (degree centrality [DC]) and global (eigenvector centrality) functional relationships across the entire brain connectome, in resting state functional magnetic resonance imaging data from 56 children with ASD, 45 children with ADHD, and 50 typically developing children. A one-way analysis of covariance, with group as fixed factor (whole-brain corrected), was followed by post hoc pairwise comparisons. RESULTS: Cortical and subcortical areas exhibited centrality abnormalities, some common to both ADHD and ASD, such as in precuneus. Others were disorder-specific and included ADHD-related increases in DC in right striatum/pallidum, in contrast with ASD-related increases in bilateral temporolimbic areas. Secondary analyses differentiating children with ASD into those with or without ADHD-like comorbidity (ASD+ and ASD-, respectively) revealed that the ASD+ group shared ADHD-specific abnormalities in basal ganglia. By contrast, centrality increases in temporolimbic areas characterized children with ASD regardless of ADHD-like comorbidity. At the cluster level, eigenvector centrality group patterns were similar to DC. CONCLUSIONS: ADHD and ASD are neurodevelopmental disorders with distinct and overlapping clinical presentations. This work provides evidence for both shared and distinct underlying mechanisms at the large-scale network level.
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10. Dolan BM, Duron SG, Campbell DA, Vollrath B, Rao BS, Ko HY, Lin GG, Govindarajan A, Choi SY, Tonegawa S. {{Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486}}. {Proc Natl Acad Sci U S A};2013 (Apr 2);110(14):5671-5676.
Fragile X syndrome (FXS) is the most common inherited form of autism and intellectual disability and is caused by the silencing of a single gene, fragile X mental retardation 1 (Fmr1). The Fmr1 KO mouse displays phenotypes similar to symptoms in the human condition-including hyperactivity, repetitive behaviors, and seizures-as well as analogous abnormalities in the density of dendritic spines. Here we take a hypothesis-driven, mechanism-based approach to the search for an effective therapy for FXS. We hypothesize that a treatment that rescues the dendritic spine defect in Fmr1 KO mice may also ameliorate autism-like behavioral symptoms. Thus, we targeted a protein that regulates spines through modulation of actin cytoskeleton dynamics: p21-activated kinase (PAK). Our results demonstrate that a potent small molecule inhibitor of group I PAKs reverses dendritic spine phenotypes in Fmr1 KO mice. Moreover, this PAK inhibitor-which we call FRAX486-also rescues seizures and behavioral abnormalities such as hyperactivity and repetitive movements, thereby supporting the hypothesis that a drug treatment that reverses the spine abnormalities can also treat neurological and behavioral symptoms. Finally, a single administration of FRAX486 is sufficient to rescue all of these phenotypes in adult Fmr1 KO mice, demonstrating the potential for rapid, postdiagnostic therapy in adults with FXS.
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11. Fitzgibbon BM, Segrave RA, Fitzgerald PB, Enticott PG. {{Can studies of pain help to bridge the gap between sensory and social impairments in autism?}}. {Front Hum Neurosci};2013;7:103.
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12. Giarelli E, Ruttenberg J, Segal A. {{Bridges and Barriers to Successful Transitioning as Perceived by Adolescents and Young Adults With Asperger Syndrome}}. {J Pediatr Nurs};2013 (Mar 28)
In this thematic content analysis we examined the expectations, and perceived facilitators of (referred to as bridges) and barriers to transition to community as reported by adolescents and young adults with Asperger syndrome. Participants were adolescents/young adults, ages 18-23years, were from the East Coast of the United States. Seventy percent of adolescents hoped for employment (n=10). Thirty percent desired to find a partner and raise a family. Perceived barriers were: self-assessed behavioral problems, self-assessed associated features, other personal factors, and institutional factors. Bridges to facilitate transition were: accommodations in the community, cognitive abilities, personal qualities/strengths, and mentor’s qualities.
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13. Hardy MW, Lagasse AB. {{Rhythm, movement, and autism: using rhythmic rehabilitation research as a model for autism}}. {Front Integr Neurosci};2013;7:19.
Recently, there has been increased focus on movement and sensory abnormalities in autism spectrum disorders (ASD). This has come from research demonstrating cortical and cerebellar differences in autism, with suggestion of early cerebellar dysfunction. As evidence for an extended profile of ASD grows, there are vast implications for treatment and therapy for individuals with autism. Persons with autism are often provided behavioral or cognitive strategies for navigating their environment; however, these strategies do not consider differences in motor functioning. One accommodation that has not yet been explored in the literature is the use of auditory rhythmic cueing to improve motor functioning in ASD. The purpose of this paper is to illustrate the potential impact of auditory rhythmic cueing for motor functioning in persons with ASD. To this effect, we review research on rhythm in motor rehabilitation, draw parallels to motor dysfunction in ASD, and propose a rationale for how rhythmic input can improve sensorimotor functioning, thereby allowing individuals with autism to demonstrate their full cognitive, behavioral, social, and communicative potential.
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14. Knight V, McKissick BR, Saunders A. {{A Review of Technology-Based Interventions to Teach Academic Skills to Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Mar 31)
A comprehensive review of the literature was conducted for articles published between 1993 and 2012 to determine the degree to which technology-based interventions can be considered an evidence-based practice to teach academic skills to individuals with Autism Spectrum Disorder (ASD). Criteria developed by Horner et al. (Except Child 71:165-178, 2005) and Gersten et al. (Except Child 71:149-164, 2005) were used to determine the quality of single-subject research studies and group experimental research studies respectively. A total of 25 studies met inclusion criteria. Of these studies, only three single-subject studies and no group studies met criteria for quality or acceptable studies. Taken together, the results suggest that practitioners should use caution when teaching academic skills to individuals with ASD using technology-based interventions. Limitations and directions for future research are discussed.
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15. Schutzius G, Bleckmann D, Kapps-Fouthier S, di Giorgio F, Gerhartz B, Weiss A. {{A quantitative homogeneous assay for fragile X mental retardation 1 protein}}. {J Neurodev Disord};2013 (Apr 2);5(1):8.
BACKGROUND: Hypermethylation of the fragile X mental retardation 1 gene FMR1 results in decreased expression of FMR1 protein FMRP, which is the underlying cause of Fragile X syndrome — an incurable neurological disorder characterized by mental retardation, anxiety, epileptic episodes and autism. Disease-modifying therapies for Fragile X syndrome are thus aimed at treatments that increase the FMRP expression levels in the brain. We describe the development and characterization of two assays for simple and quantitative detection of FMRP protein. METHOD: Antibodies coupled to fluorophores that can be employed for time-resolved Forster’s resonance energy transfer were used for the development of homogeneous, one-step immunodetection. Purified recombinant human FMRP and patient cells were used as control samples for assay development. RESULTS: The assays require small sample amounts, display high stability and reproducibility and can be used to quantify endogenous FMRP in human fibroblasts and peripheral blood mononuclear cells. Application of the assays to FXS patient cells showed that the methods can be used both for the characterization of clinical FXS patient samples as well as primary readouts in drug-discovery screens aimed at increasing endogenous FMRP levels in human cells. CONCLUSION: This study provides novel quantitative detection methods for FMRP in FXS patient cells. Importantly, due to the simplicity of the assay protocol, the method is suited to be used in screening applications to identify compounds or genetic interventions that result in increased FMRP levels in human cells.
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16. Sullivan K, Sharda M, Greenson J, Dawson G, Singh NC. {{A novel method for assessing the development of speech motor function in toddlers with autism spectrum disorders}}. {Front Integr Neurosci};2013;7:17.
There is increasing evidence to show that indicators other than socio-cognitive abilities might predict communicative function in Autism Spectrum Disorders (ASD). A potential area of research is the development of speech motor function in toddlers. Utilizing a novel measure called « articulatory features, » we assess the abilities of toddlers to produce sounds at different timescales as a metric of their speech motor skills. In the current study, we examined (1) whether speech motor function differed between toddlers with ASD, developmental delay (DD), and typical development (TD); and (2) whether differences in speech motor function are correlated with standard measures of language in toddlers with ASD. Our results revealed significant differences between a subgroup of the ASD population with poor verbal skills, and the other groups, for the articulatory features associated with the shortest-timescale, namely place of articulation (POA), (p < 0.05). We also found significant correlations between articulatory features and language and motor ability as assessed by the Mullen and the Vineland scales for the ASD group. Our findings suggest that articulatory features may be an additional measure of speech motor function that could potentially be useful as an early risk indicator of ASD.
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17. Wacker DP, Lee JF, Padilla Dalmau YC, Kopelman TG, Lindgren SD, Kuhle J, Pelzel KE, Dyson S, Schieltz KM, Waldron DB. {{Conducting Functional Communication Training via Telehealth to Reduce the Problem Behavior of Young Children with Autism}}. {J Dev Phys Disabil};2013 (Feb 1);25(1):35-48.
Functional communication training (FCT) was conducted by parents of 17 young children with autism spectrum disorders who displayed problem behavior. All procedures were conducted at regional clinics located an average of 15 miles from the families’ homes. Parents received coaching via telehealth from behavior consultants who were located an average of 222 miles from the regional clinics. Parents first conducted functional analyses with telehealth consultation (Wacker, Lee, et al., in press) and then conducted FCT that was matched to the identified function of problem behavior. Parent assistants located at the regional clinics received brief training in the procedures and supported the families during the clinic visits. FCT, conducted within a nonconcurrent multiple baseline design, reduced problem behavior by an average of 93.5%. Results suggested that FCT can be conducted by parents via telehealth when experienced applied behavior analysts provide consultation.
