1. Beers AN, McBoyle M, Kakande E, Dar Santos RC, Kozak FK. {{Autism and peripheral hearing loss: A systematic review}}. {Int J Pediatr Otorhinolaryngol};2013 (Nov 15)
OBJECTIVE: To systematically review the literature describing the relationship between autism spectrum disorder (ASD) and peripheral hearing loss including literature recommendations for audiological assessment and auditory habilitation in cases where peripheral hearing loss and ASD coexist. DATA SOURCES: Published studies indexed in MEDLINE (1948-2011). REVIEW METHODS: The search strategy identified 595 potential studies. After a review of the titles, 115 abstracts were reviewed and 39 articles were retrieved and assessed independently by at least two authors for possible inclusion. 22 articles pertained to children with ASD and peripheral hearing loss, hearing assessment in children with ASD, audiological habilitation for children with ASD or hyper-responsiveness in children with ASD. 17 further studies were garnered from the reference section of the 22 papers. RESULTS: Controversy exists in the literature regarding prevalence of hearing impairment among individuals with ASD. In cases where ASD and hearing impairment co-exist, diagnosis of one condition often leads to a delay in diagnosing the other. Audiological assessment can be difficult in children with ASD and test-retest reliability of behavioural thresholds can be poor. In cases where hearing impairment exists and hearing aids or cochlear implantation are recommended, devices are often fit with special considerations for the child with ASD. Hyper-responsiveness to auditory stimuli may be displayed by individuals with ASD. Evidence or the suspicion of hyper-responsiveness may be taken into consideration when fitting amplification and planning behavioural intervention. CONCLUSIONS: Prevalence rates of hearing impairment among individuals with ASD continue to be debated. At present there is no conclusive evidence that children with ASD are at increased risk of peripheral hearing loss. A complete audiological assessment is recommended in all cases where ASD is suspected so as not to delay the diagnosis of hearing impairment in the event that hearing loss and ASD co-exist. Objective assessment measures should be used to confirm behavioural testing in order to ensure reliability of audiological test results. Fitting of hearing aids or cochlear implantation are not contraindicated when hearing loss is present in children with ASD; however, success with these devices can be variable.
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2. David N, Schultz J, Milne E, Schunke O, Schottle D, Munchau A, Siegel M, Vogeley K, Engel AK. {{Right Temporoparietal Gray Matter Predicts Accuracy of Social Perception in the Autism Spectrum}}. {J Autism Dev Disord};2013 (Dec 5)
Individuals with an autism spectrum disorder (ASD) show hallmark deficits in social perception. These difficulties might also reflect fundamental deficits in integrating visual signals. We contrasted predictions of a social perception and a spatial-temporal integration deficit account. Participants with ASD and matched controls performed two tasks: the first required spatiotemporal integration of global motion signals without social meaning, the second required processing of socially relevant local motion. The ASD group only showed differences to controls in social motion evaluation. In addition, gray matter volume in the temporal-parietal junction correlated positively with accuracy in social motion perception in the ASD group. Our findings suggest that social-perceptual difficulties in ASD cannot be reduced to deficits in spatial-temporal integration.
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3. Enloe KA, Rapp JT. {{Effects of Noncontingent Social Interaction on Immediate and Subsequent Engagement in Vocal and Motor Stereotypy in Children With Autism}}. {Behav Modif};2013 (Dec 3)
This study evaluated the effects of noncontingent social interaction (SI) on immediate and subsequent engagement in vocal and motor stereotypy in three children with autism. During SI, a therapist delivered continuous interaction in the form of reading aloud from a Kindle e-reader. Results showed that when compared with a no-interaction baseline sequence, SI decreased immediate engagement vocal stereotypy for all three participants without increasing subsequent engagement for any participant. Furthermore, SI also increased immediate engagement in motor stereotypy for one participant, decreased immediate engagement in motor stereotypy for two participants, but did not increase subsequent engagement in motor stereotypy for any participant. Some clinical implications and limitations of the findings are discussed.
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4. Essop FB, Krause A. {{Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review}}. {S Afr Med J};2013 (Dec);103(12):994-998.
Background. Fragile X syndrome (FXS), the most common inherited cause of intellectual disability (ID) worldwide, is caused by the expansion of a CGG repeat in the fragile X mental retardation gene (FMR-1) gene.Objectives. To review, retrospectively, the genetic services for FXS and other FMR-1-related disorders – including fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR-1-related primary ovarian insufficiency (POI) – at the Division of Human Genetics, Johannesburg, for diagnostic, carrier and prenatal genetic testing.Methods. The records of 2 690 patients with ID and suspected FXS (ID/?FXS) who had genetic testing for FMR-1 between 1992 and 2012 were reviewed. Of these, 2 239 had diagnostic testing, 430 carrier or cascade testing and 17 prenatal testing for FXS. Four had FXTAS or POI testing. Polymerase chain reaction (PCR) and/or Southern blotting techniques were used to test the patients’ samples for FMR-1 and FMR-2 expansions.Results. Of the 2 239 patients who had diagnostic testing, 128 (5.7%) had a full mutation, 12 (0.5%) had a premutation and 43 (1.9%) an intermediate allele. In 17 prenatal tests, eight fetuses tested positive for FXS. FMR-1 CGG repeat distribution analysis in 1 532 males negative for the FMR-1 expansion showed that 29 and 30 CGG repeats were the most common (61.1%), but distribution was significantly different in the black and white populations.Conclusion. The findings support the presence of FXS, as the most common cause of ID, in all local populations. The FMR-1 CGG repeat distribution varied from that found in other studies. The number of family members tested was relatively low suggesting that many at-risk individuals are not being referred.
5. Horder J, Wilson CE, Mendez MA, Murphy DG. {{Autistic Traits and Abnormal Sensory Experiences in Adults}}. {J Autism Dev Disord};2013 (Dec 5)
Sensory processing abnormalities are common in autism spectrum disorders (ASD), and now form part of the Diagnostic and Statistical Manual 5th Edition (DSM-5) diagnostic criteria, but it is unclear whether they characterize the ‘broader phenotype’ of the disorder. We recruited adults (n = 772) with and without an ASD and administered the Autism Quotient (AQ) along with the Adult/Adolescent Sensory Profile (AASP), the Cardiff Anomalous Perceptions Scale (CAPS), and the Glasgow Sensory Questionnaire (GSQ), all questionnaire measures of abnormal sensory responsivity. Autism traits were significantly correlated with scores on all three sensory scales (AQ/GSQ r = 0.478; AQ/AASP r = 0.344; AQ/CAPS r = 0.333; all p < 0.001). This relationship was linear across the whole range of AQ scores and was true both in those with, and without, an ASD diagnosis. It survived correction for anxiety trait scores, and other potential confounds such as mental illness and migraine.
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6. Krajnc N. {{Severe Respiratory Dysrhythmia in Rett Syndrome Treated With Topiramate}}. {J Child Neurol};2013 (Dec 5)
Rett syndrome is a neurodevelopmental disorder that manifests itself early in childhood, progresses with the evolution of characteristic clinical signs and symptoms and is confirmed by mutation in the methyl-CpG-binding protein 2 gene. Seizures are present in a majority of Rett patients. Respiratory dysrhythmia in the awake state is present in two-thirds of patients, leading in some cases to severe nonepileptic paroxysmal events. There are no optimal treatment recommendations thus far. The aim of this case study is to present the electro-clinical correlation of severe respiratory dysrhythmia mimicking seizures in 2 Rett patients and effective treatment with topiramate.
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7. Mackay SJ, Parry O. {{Two world views: Perspectives on autistic behaviours}}. {J Health Psychol};2013 (Dec 5)
This article reports on a study, utilising phenomenological methodology, which used interview and video narratives to collect data from 10 young people with autism and their parents. Data analysis employed multistage, primarily ethnomethodological methods in order to interpret and understand experiences of autism. The study found that parents, arguably influenced by the medical and psychological perspectives through which ‘autism’ has evolved, problematise what children with autism do as pathological. This article juxtaposes parents’ understandings against how children with autism, themselves, account for what they do, by exploring respective accounts of children’s obsessions and ritualistic behaviours.
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8. McKimm E, Corkill B, Goldowitz D, Albritton LM, Homayouni R, Blaha CD, Mittleman G. {{Glutamate Dysfunction Associated with Developmental Cerebellar Damage: Relevance to Autism Spectrum Disorders}}. {Cerebellum};2013 (Dec 5)
Neural abnormalities commonly associated with autism spectrum disorders include prefrontal cortex (PFC) dysfunction and cerebellar pathology in the form of Purkinje cell loss and cerebellar hypoplasia. It has been reported that loss of cerebellar Purkinje cells results in aberrant dopamine neurotransmission in the PFC which occurs via dysregulation of multisynaptic efferents from the cerebellum to the PFC. Using a mouse model, we investigated the possibility that developmental cerebellar Purkinje cell loss could disrupt glutamatergic cerebellar projections to the PFC that ultimately modulate DA release. We measured glutamate release evoked by local electrical stimulation using fixed-potential amperometry in combination with glutamate selective enzyme-based recording probes in urethane-anesthetized Lurcher mutant and wildtype mice. Target sites included the mediodorsal and ventrolateral thalamic nuclei, reticulotegmental nuclei, pedunculopontine nuclei, and ventral tegmental area. With the exception of the ventral tegmental area, the results indicated that in comparison to wildtype mice, evoked glutamate release was reduced in Lurcher mutants by between 9 and 72 % at all stimulated sites. These results are consistent with the notion that developmental loss of cerebellar Purkinje cells drives reductions in evoked glutamate release in cerebellar efferent pathways that ultimately influence PFC dopamine release. Possible mechanisms whereby reductions in glutamate release could occur are discussed.
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9. Nicholl J, Waters W, Mulley JC, Suwalski S, Brown S, Hull Y, Barnett C, Haan E, Thompson EM, Liebelt J, McGregor L, Harbord MG, Entwistle J, Munt C, White D, Chitti A, Baulderstone D, Ketteridge D, Consortium AR, Friend K, Bain SM, Yu S. {{Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH}}. {Pathology};2013 (Dec 1)
SUMMARY: The aim of this study was to determine prospectively the frequency of pathogenic chromosomal microdeletions and microduplications in a large group of referred patients with developmental delay (DD), intellectual disability (ID) or autism spectrum disorders (ASD) within a genetic diagnostic service.First tier testing was applied using a standardised oligo-array comparative genomic hybridization (CGH) platform, replacing conventional cytogenetic testing that would have been used in the past.Copy number variants (CNVs) found to be responsible for the clinical condition on the request form could all be subdivided into three groups: well established pathogenic microdeletion/microduplication/aneuploidy syndromes, predicted pathogenic CNVs as interpreted by the laboratory, and recently established pathogenic disease susceptibility CNVs. Totalled from these three groups, with CNVs of uncertain significance excluded, detection rates were: DD (13.0%), ID (15.6%), ASD (2.3%), ASD with DD (8.2%), ASD with ID (12.7%) and unexplained epilepsy with DD, ID and ASD (10.9%).The greater diagnostic sensitivity arising from routine application of array CGH, compared with previously used conventional cytogenetics, outweighs the interpretative issues for the reporting laboratory and referring clinician arising from detection of CNVs of uncertain significance. Precise determination of any previously hidden molecular defect responsible for the patient’s condition is translated to improved genetic counselling.
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10. Scheid I, Maruani A, Huguet G, Leblond CS, Nygren G, Anckarsater H, Beggiato A, Rastam M, Amsellem F, Gillberg IC, Elmaleh M, Leboyer M, Gillberg C, Betancur C, Coleman M, Hama H, Cook EH, Bourgeron T, Delorme R. {{Heterozygous FA2H mutations in autism spectrum disorders}}. {BMC Med Genet};2013 (Dec 3);14(1):124.
BACKGROUND: Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional impact of heterozygous FA2H mutations. We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD. METHODS: We searched deleterious mutations affecting FA2H, by genotyping 1256 independent patients with ASD genotyped using Genome Wide SNP arrays, and also by sequencing in independent set of 186 subjects with ASD and 353 controls. We then explored the impact of the identified mutations by measuring FA2H enzymatic activity and expression, in transfected COS7 cells. RESULTS: One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions. Also, two rare non-synonymous mutations (R113W and R113Q) were reported. Although predictive models suggested that R113W should be a deleterious, we did not find that FA2H activity was affected by expression of the R113W mutation in cultured COS cells. CONCLUSIONS: While our results do not support a major role for FA2H coding variants in ASD, a screening of other genes related to myelin synthesis would allow us to better understand the role of non-neuronal elements in ASD susceptibility.
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11. Vorsanova SG, Iurov, II, Voinova VI, Kurinnaia OS, Zelenova MA, Demidova IA, Ulas EV, Iurov IB. {{[Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations.]}}. {Zh Nevrol Psikhiatr Im S S Korsakova};2013;113(10):63-68.
Molecular karyotyping using DNA microarrays (array CGH) was applied for identification of subchromosomal microdeletions in a cohort of 12 girls with clinical features of RETT syndrome, but negative for MECP2 gene mutations. Recurrent microdeletions of MECP2 gene in chromosome X (locus Xq28) were identified in 5 girls of 12 studied. Probably RTT girls with subchromosomic microdeletions in Xq28 could represent a special subtype of the disease, which appears as clinically milder than the classic form of disease. In one case, an atypical form of RTT was associated with genomic abnormalities affecting CDKL5 gene and region critical for microdeletion Prader-Willi and Angelman syndromes (15q11.2). In addition, data are presented for the first time that genetic variation in regions 3p13, 3q27.1, and 1q21.1-1q21.2 could associate with RTT-like clinical manifestations. Without application of molecular karyotyping technology and bioinformatic method of assessing the pathogenic significance of genomic rearrangements these RTT-like girls negative for MECP2 gene mutations were considered as cases of idiopathic mental retardation associated with autism. It should be noted that absence of intragenic mutations in MECP2 gene is not sufficient criteria to reject the clinical diagnosis of RTT. To avoid errors in the genetic diagnosis of this genetically heterogeneous brain disease molecular cytogenetic studies using high resolution oligonucleotide array CGH (molecular karyotyping) are needed.
12. Wall D. {{Autworks: a cross-disease analysis application for Autism and related disorders}}. {AMIA Summits Transl Sci Proc};2013;2013:42-43.
13. Yang JC, Simon C, Schneider A, Seritan AL, Hamilton L, Hagerman PJ, Hagerman RJ, Olichney JM. {{Abnormal Semantic Processing in Females with Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)}}. {Genes Brain Behav};2013 (Dec 2)
FXTAS, a neurodegenerative disorder, affects Fragile X (FMR1) gene premutation carriers in late-life. Studies have shown cognitive impairments in FXTAS including executive dysfunction, working memory, and visuospatial deficits. However, less is known about cognition in females with FXTAS. Thus, we examined semantic processing and verbal memory in female FXTAS patients with event-related potentials (ERPs) and neuropsychological testing. 61 females (34 FXTAS Mage = 62.7, 27 controls Mage = 60.4) were studied with 32-channel ERPs during a category judgment task in which semantically congruous (50%) and incongruous items were repeated ~10-140s later. N400 and P600 amplitude data were submitted to ANCOVA. Neuropsychological testing demonstrated lower performance in verbal learning and executive function in females with FXTAS. ERP analyses revealed a significant reduction of the N400 congruity effect (incongruous – congruous) in the FXTAS group. The N400 congruity effect reduction in females with FXTAS was mainly due to increased N400 amplitude to congruous new words. No significant abnormalities of the N400 repetition effect or the P600 repetition effect were found, indicating preserved implicit memory and verbal memory, respectively, in females with FXTAS. The decreased N400 congruity effect suggests abnormal semantic expectancy and/or semantic network disorganization in female FXTAS patients. The enhanced N400 amplitude to congruous new words may reflect decreased cognitive flexibility among FXTAS women, making access to less typical category exemplar words more difficult.
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14. Zeidan-Chulia F, Salmina AB, Malinovskaya NA, Noda M, Verkhratsky A, Moreira JC. {{The glial perspective of autism spectrum disorders}}. {Neurosci Biobehav Rev};2013 (Nov 30)
The aetiology of autism spectrum disorders remains unclear although a growing number of associated genetic abnormalities and environmental factors have been discovered in recent decades. These advancements coincided with a remarkable increase in the comprehension of physiological functions and pathological potential of neuroglia in the central nervous system that led to a notion of fundamental contribution of glial cells into multiple neuropathologies, including neuropsychiatric and developmental disorders. Growing evidence indicates a role for deregulation of astroglial control over homeostasis and plastic potential of neural networks as well as microglial malfunction and neuroinflammatory response in the brains of autistic patients. In this review, we shall summarize the status and pathological potential of neuroglia and argue for neuroglial roots of autistic disorders.
