1. {{Neurodevelopmental disorders: Gene expression profiling in blood could aid diagnosis of autism spectrum disorders}}. {Nat Rev Neurol};2013 (Jan 22)
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2. Bangash MA, Park JM, Melnikova T, Wang D, Jeon SK, Lee D, Syeda S, Kim J, Kouser M, Schwartz J, Cui Y, Zhao X, Speed HE, Kee SE, Tu JC, Hu JH, Petralia RS, Linden DJ, Powell CM, Savonenko A, Xiao B, Worley PF. {{Retraction Notice to: Enhanced Polyubiquitination of Shank3 and NMDA Receptor in a Mouse Model of Autism}}. {Cell};2013 (Jan 17);152(1-2):367.
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3. Brown AS, Sourander A, Hinkka-Yli-Salomaki S, McKeague IW, Sundvall J, Surcel HM. {{Elevated maternal C-reactive protein and autism in a national birth cohort}}. {Mol Psychiatry};2013 (Jan 22)
Autism is a complex neuropsychiatric syndrome with a largely unknown etiology. Inflammation during pregnancy may represent a common pathway by which infections and other insults increase risk for the disorder. Hence, we investigated the association between early gestational C-reactive protein (CRP), an established inflammatory biomarker, prospectively assayed in maternal sera, and childhood autism in a large national birth cohort with an extensive serum biobank. Other strengths of the cohort included nearly complete ascertainment of pregnancies in Finland (N=1.2 million) over the study period and national psychiatric registries consisting of virtually all treated autism cases in the population. Increasing maternal CRP levels, classified as a continuous variable, were significantly associated with autism in offspring. For maternal CRP levels in the highest quintile, compared with the lowest quintile, there was a significant, 43% elevated risk. This finding suggests that maternal inflammation may have a significant role in autism, with possible implications for identifying preventive strategies and pathogenic mechanisms in autism and other neurodevelopmental disorders.Molecular Psychiatry advance online publication, 22 January 2013; doi:10.1038/mp.2012.197.
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4. Coolidge FL, Marle PD, Rhoades CS, Monaghan P, Segal DL. {{Psychometric Properties of a New Measure to Assess Autism Spectrum Disorder in DSM-5}}. {Am J Orthopsychiatry};2013 (Jan);83(1):126-130.
This article presents preliminary psychometric properties of a new 45-item scale, the Coolidge Autistic Symptoms Survey (CASS), designed to differentiate between children within the autism spectrum (including Asperger’s Disorder) and purportedly normal children, in anticipation of DSM-5 changes, in which a single diagnostic category is proposed: autism spectrum disorder. The final sample (N = 72) consisted of 19 children diagnosed with Asperger’s Disorder, 19 children who were considered loners by their parents (without an autism diagnosis), and 34 purportedly normal children. The CASS and the 200-item, DSM-IV-TR aligned, Coolidge Personality and Neuropsychological Inventory were completed by a parent. The CASS had excellent internal scale reliability (alpha= .97) and test-retest (r = .91) reliability. ANOVA revealed the CASS was able to discriminate significantly among the 3 groups of children. Further research with the CASS appears warranted.
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5. Curtin S, Vouloumanos A. {{Speech Preference is Associated with Autistic-Like Behavior in 18-Months-Olds at Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Jan 19)
We examined whether infants’ preference for speech at 12 months is associated with autistic-like behaviors at 18 months in infants who are at increased risk for autism spectrum disorder (ASD) because they have an older sibling diagnosed with ASD and in low-risk infants. Only low-risk infants listened significantly longer to speech than to nonspeech at 12 months. In both groups, relative preference for speech correlated positively with general cognitive ability at 12 months. However, in high-risk infants only, preference for speech was associated with autistic-like behavior at 18 months, while in low-risk infants, preference for speech correlated with language abilities. This suggests that in children at risk for ASD an atypical species-specific bias for speech may underlie atypical social development.
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6. Frye RE, Melnyk S, Macfabe DF. {{Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder}}. {Transl Psychiatry};2013;3:e220.
Autism spectrum disorder (ASD) has been associated with mitochondrial disease (MD). Interestingly, most individuals with ASD and MD do not have a specific genetic mutation to explain the MD, raising the possibility of that MD may be acquired, at least in a subgroup of children with ASD. Acquired MD has been demonstrated in a rodent ASD model in which propionic acid (PPA), an enteric bacterial fermentation product of ASD-associated gut bacteria, is infused intracerebroventricularly. This animal model shows validity as it demonstrates many behavioral, metabolic, neuropathologic and neurophysiologic abnormalities associated with ASD. This animal model also demonstrates a unique pattern of elevations in short-chain and long-chain acyl-carnitines suggesting abnormalities in fatty-acid metabolism. To determine if the same pattern of biomarkers of abnormal fatty-acid metabolism are present in children with ASD, the laboratory results from a large cohort of children with ASD (n=213) who underwent screening for metabolic disorders, including mitochondrial and fatty-acid oxidation disorders, in a medically based autism clinic were reviewed. Acyl-carnitine panels were determined to be abnormal if three or more individual acyl-carnitine species were abnormal in the panel and these abnormalities were verified by repeated testing. Overall, 17% of individuals with ASD demonstrated consistently abnormal acyl-carnitine panels. Next, it was determined if specific acyl-carnitine species were consistently elevated across the individuals with consistently abnormal acyl-carnitine panels. Significant elevations in short-chain and long-chain, but not medium-chain, acyl-carnitines were found in the ASD individuals with consistently abnormal acyl-carnitine panels-a pattern consistent with the PPA rodent ASD model. Examination of electron transport chain function in muscle and fibroblast culture, histological and electron microscopy examination of muscle and other biomarkers of mitochondrial metabolism revealed a pattern consistent with the notion that PPA could be interfering with mitochondrial metabolism at the level of the tricarboxylic-acid cycle (TCAC). The function of the fatty-acid oxidation pathway in fibroblast cultures and biomarkers for abnormalities in non-mitochondrial fatty-acid metabolism were not consistently abnormal across the subgroup of ASD children, consistent with the notion that the abnormalities in fatty-acid metabolism found in this subgroup of children with ASD were secondary to TCAC abnormalities. Glutathione metabolism was abnormal in the subset of ASD individuals with consistent acyl-carnitine panel abnormalities in a pattern similar to glutathione abnormalities found in the PPA rodent model of ASD. These data suggest that there are similar pathological processes between a subset of ASD children and an animal model of ASD with acquired mitochondrial dysfunction. Future studies need to identify additional parallels between the PPA rodent model of ASD and this subset of ASD individuals with this unique pattern of acyl-carnitine abnormalities. A better understanding of this animal model and subset of children with ASD should lead to better insight in mechanisms behind environmentally induced ASD pathophysiology and should provide guidance for developing preventive and symptomatic treatments.
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7. Gareau C, Martel D, Coudert L, Mellaoui S, Mazroui R. {{Characterization of Fragile X Mental Retardation Protein granules formation and dynamics in Drosophila}}. {Biol Open};2013 (Jan 15);2(1):68-81.
FMRP is an evolutionarily conserved protein that is highly expressed in neurons and its deficiency causes fragile X mental retardation syndrome. FMRP controls the translation of target mRNAs in part by promoting their dynamic transport in neuronal RNA granules. We have previously shown that high expression of mammalian FMRP induces formation of granules termed FMRP granules. These RNA granules are reminiscent of neuronal granules, of stress granules, as well as of the recently described in vitro-assembled granules. In contrast with mammalian FMRP, which has two paralog proteins, Drosophila FMRP (dFMRP) is encoded by a single gene that has no paralog. Using this genetically simple organism, we investigated formation and dynamics of FMRP granules. We found that increased expression of dFMRP in Drosophila cells induces the formation of dynamic dFMRP RNA granules. Mutagenesis studies identified the N-terminal protein-protein domain of dFMRP as a key determinant for FMRP granules formation. The RGG RNA binding motif of dFMRP is dispensable for dFMRP granules formation since its deletion does not prevent formation of those granules. Deletion of the RGG motif reduced, however, dFMRP trafficking between FMRP granules and the cytosol. Similarly, deletion of a large part of the KH RNA binding motif of dFMRP had no effect on formation of dFMRP-granules, but diminished the shuttling activity of dFMRP. Our results thus suggest that the mechanisms controlling formation of RNA granules and those promoting their dynamics are uncoupled. This study opens new avenues to further elucidate the molecular mechanisms controlling FMRP trafficking with its associated mRNAs in and out of RNA granules.
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8. Greenaway R, Davis G, Plaisted-Grant K. {{Marked selective impairment in autism on an index of magnocellular function}}. {Neuropsychologia};2013 (Jan 16)
Atypical high-level vision in autism is sometimes attributed to a core deficit in the function of lateral geniculate nucleus magnocells or their retinal drives. While some physiological measures provide indirect, suggestive evidence for such a deficit, support from behavioural measures is lacking and contradictory. We assessed luminance contrast increment thresholds on pulsed- and steady- pedestals in 17 children with autism spectrum conditions (ASC) compared to 17 typically developing children; these two conditions correspond to widely-used indices of magnocellular and parvocellular function. As a group, children with ASC had strikingly elevated thresholds on the steady pedestal-paradigm, yet performed similarly to controls on the pulsed pedestal paradigm, a finding that would typically be interpreted to reflect impaired magnocellular function. The effect size of the impairment was large and a substantial minority (41.2%) of the ASC group showed significantly impaired performance on an individual basis. This finding is consistent with a selective magnocellular deficit. It directly contradicts previous claims that such deficits are confined to ‘complex’ visual stimuli and likely does not reflect atypical attention, adaptation or high-level vision. The pattern of results is not clearly predicted by notions of imbalance of excitation versus inhibition, atypical lateral connectivity or enhanced perceptual function that account for a range of other findings associated with perception in autism. It may be amenable to explanation in terms of decreased endogenous neural noise, a novel alternative we outline here.
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9. Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND. {{Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation}}. {J Med Genet};2013 (Jan 18)
BACKGROUND: The contribution of copy-number variation (CNV) to disease has been highlighted with the widespread adoption of array-based comparative genomic hybridisation (aCGH) and microarray technology. Contiguous gene deletions involving ANKRD11 in 16q24.3 are associated with autism spectrum disorder (ASD) and intellectual disability (ID), while 16q24.1 deletions affecting FOXF1 are associated with congenital renal malformations, alveolar capillary dysplasia, and various other abnormalities. The disease associations of deletions in the intervening region, 16q24.2, have only been defined to a limited extent. AIM: To determine whether deletions affecting 16q24.2 are correlated with congenital anomalies. METHODS: 35 individuals, each having a deletion in 16q24.2, were characterised clinically and by aCGH and/or SNP-genotyping microarray. RESULTS: Several of the 35 16q24.2 deletions identified here closely abut or overlap the coding regions of FOXF1 and ANKRD11, two genes that have been previously associated with the disease. 25 patients were reported to have ASD/ID, and three were found to have bilateral hydronephrosis. 14 of the deletions associated with ASD/ID overlap the coding regions of FBXO31 and MAP1LC3B. These same genes and two others, C16orf95 and ZCCHC14, are also included in the area of minimal overlap of the three deletions associated with hydronephrosis. CONCLUSIONS: Our data highlight 16q24.2 as a region of interest for ASD, ID and congenital renal malformations. These conditions are associated, albeit without complete penetrance, with deletions affecting C16orf95, ZCCHC14, MAP1LC3B and FBXO31. The function of each gene in development and disease warrants further investigation.
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10. Hobson JA, Hobson RP, Malik S, Bargiota K, Calo S. {{The relation between social engagement and pretend play in autism}}. {Br J Dev Psychol};2013 (Mar);31(Pt 1):114-127.
The focus of this study is the nature and concomitants of pretend play among young children with autism. Age- and language-matched children with autism (n= 27), autism spectrum disorder (n= 14), and developmental disorders without autism (n= 16) were administered the Test of Pretend Play (ToPP; Lewis & Boucher, 1997), with an additional rating of ‘playful pretence’. As predicted, children with autism showed less playful pretend than participants with developmental disorders who did not have autism. Across the groups, playful pretence was correlated with individual differences in communication and social interaction, even when scores on the ToPP were taken into account. Limitations in creative, playful pretend among children with autism relate to their restricted interpersonal communication and engagement.
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11. Jaarsma P, Welin S. {{Human capabilities, mild autism, deafness and the morality of embryo selection}}. {Med Health Care Philos};2013 (Jan 20)
A preimplantation genetic test to discriminate between severe and mild autism spectrum disorder might be developed in the foreseeable future. Recently, the philosophers Julian Savulescu and Guy Kahane claimed that there are strong reasons for prospective parents to make use of such a test to prevent the birth of children who are disposed to autism or Asperger’s disorder. In this paper we will criticize this claim. We will discuss the morality of selection for mild autism in embryo selection in a hypothetical in vitro fertilization (IVF) situation where preimplantation genetic diagnosis is performed and compare this with a similar selection for congenital deafness. To do this we first discuss relevant human differences. We then introduce the principle of human capabilities (PC) and compare this principle with the principle of procreative beneficence (PB) introduced by Savulescu and Kahane. We apply the two principles to selection for mild autism and selection for congenital deafness. We argue that PC allows for the selection for mild autism but rules out selection for congenital deafness. PB will not give clear answers; the ruling of PB depends to a large extent on expected social, cultural and political developments. We will argue that PC is preferable to PB. We will discuss arguments for the value of mild autism for individuals who have this condition and argue that they are able to lead a life with human dignity provided autism-friendly social circumstances are present. Neither PC nor PB yields strong reasons for prospective parents to seek to prevent the birth of children who are disposed to mild autism spectrum disorder.
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12. Jolley RP, O’Kelly R, Barlow CM, Jarrold C. {{Expressive drawing ability in children with autism}}. {Br J Dev Psychol};2013 (Mar);31(Pt 1):143-149.
The autistic impairments in emotional and social competence, imagination and generating ideas predict qualitative differences in expressive drawings by children with autism beyond that accounted by any general learning difficulties. In a sample of 60 5-19-year-olds, happy and sad drawings were requested from 15 participants with non-savant autism and compared with those drawn by three control groups matched on either degree of learning difficulty (MLD), mental age (MA) or chronological age (CA). All drawings were rated by two artists on a 7-point quality of expression scale. Contrary to our predictions, the drawings from the autistic group were rated similar to those of the MA and MLD groups. Analysis of the people and social content of the drawings revealed that although children with autism did not draw fewer people, they did draw more immature forms than mental age controls. Furthermore, there was tentative evidence that fewer social scenes were produced by the autism sample. We conclude that the overall merit of expressive drawing in autism is commensurate with their general learning difficulties, but the social/emotional impairment in autism affects their drawings of people and social scenes.
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13. Kose S, Bora E, Erermis S, Ozbaran B, Bildik T, Aydin C. {{Broader autistic phenotype in parents of children with autism: Autism Spectrum Quotient-Turkish version}}. {Psychiatry Clin Neurosci};2013 (Jan);67(1):20-27.
AIMS: The Autism Spectrum Quotient (AQ) is a self-assessment screening instrument for measuring the degree to which an individual of normal intelligence shows autistic traits. Genetic factors could be responsible for the relatives of individuals with autism exhibiting higher than normal rates of autism-related impairments, referred to as the ‘broader autism phenotype’ (BAP). The aim of this study was to test whether there is a difference between the parents of autistic and those of typically developing children (TDC) on AQ scores in a Turkish sample. METHOD: The AQ total and subscale scores of the 100 parents (47 fathers, 53 mothers) of children with autistic disorder (AD) were compared with the 100 parents (48 fathers, 52 mothers) of TDC. RESULTS: The parents of AD children scored significantly higher than the TDC parents on total AQ score, and two of five subscale scores; social skills, and communication. The other three subscales (attention to detail, attention switching, imagination) did not differentiate groups. There was no significant difference between mothers and fathers on any AQ scores, neither in the AD nor TDC group. The group x gender interaction was not significant on the total or the five subscale scores of AQ. CONCLUSION: Social skill and communication subscales differentiate AD parents more successfully, and are more sensitive, as reported in other studies. The present findings confirm that social skill and communication impairments in parents of children with autism spectrum disorders are indicators of BAP.
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14. Kovacs T, Kelemen O, Keri S. {{Decreased fragile X mental retardation protein (FMRP) is associated with lower IQ and earlier illness onset in patients with schizophrenia}}. {Psychiatry Res};2013 (Jan 17)
The purpose of this study was to investigate Fragile X Syndrome (FXS)-related mechanisms in schizophrenia, including CGG triplet expansion, FMR1 mRNA, and fragile X mental retardation protein (FMRP) levels in lymphocytes. We investigated 36 patients with schizophrenia and 30 healthy controls using Southern blot analysis, mRNA assay, and enzyme-linked immunosorbent assay (ELISA). General intellectual functions were assessed with the Wechsler Adult Intelligence Scale-III, and the clinical symptoms were evaluated with the Positive and Negative Syndrome Scale. Results revealed that, relative to healthy controls, CGG triplet size and FMR1 mRNA were unaltered in patients with schizophrenia. However, the FMRP level was significantly reduced in patients compared with controls. We found an association between lower FMRP levels, reduced IQ, and earlier illness onset in schizophrenia. Chlorpromazine-equivalent antipsychotic dose did not correlate with FMRP levels. These results raise the possibility of impaired translation of FMR1 mRNA, altered epigenetic regulation, or increased degradation of FMRP in schizophrenia, which may play a role in dysfunctional neurodevelopmental processes and impaired neuroplasticity.
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15. Li J, Liu J, Zhao L, Ma Y, Jia M, Lu T, Ruan Y, Li Q, Yue W, Zhang D, Wang L. {{Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Jan 17)
Autism is a pervasive neurodevelopmental disorder diagnosed in early childhood. The genetic factors might play an important role in its pathogenesis. Previous studies revealed that Reelin (RELN) polymorphisms were associated with autism. However, the roles of genes in Reelin signaling pathway for autism are largely unknown. As several knockout mice models in which the Reelin pathway genes (i.e. DAB1, VLDLR/APOER2, FYN/SRC and CRK/CRKL) are deficient have the similar phenotype as the reeler mice (Reelin(-/-)), we hypothesized that the Reelin signaling pathway genes might play roles in the etiology of autism. Therefore, we conducted a family-based association study. Sixty-two tagged single nucleotide polymorphisms (SNPs) covering 15 genes in Reelin pathway were genotyped in 239 trios, and 14 significant SNPs were further investigated in the additional 188 trios. In total 427 trios, we found significant genetic association between autism and four SNPs in DAB1 (rs12035887 G: p=0.0006; rs3738556 G: p=0.0044; rs1202773 A: p=0.0048; rs12740765 T: p=0.0196). After the Bonferroni correction, SNP rs12035887 remained significant. Furthermore, the haplotype constructed with rs1202773 and rs12023109 in DAB1 showed significant excess transmission in both individual and global haplotype analyses (p=0.0052 and 0.0279, respectively). Our findings suggested that variations in DAB1 involved in the Reelin signaling pathway might contribute to genetic susceptibility to autism with Chinese Han decent, supporting the defect in the Reelin signaling pathway as a predisposition factor for autism.
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16. Malhotra S, Subodh BN, Parakh P, Lahariya S. {{Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency}}. {J Autism Dev Disord};2013 (Jan 20)
Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case illustrates the need for a thorough evaluation of all cases of childhood disintegrative disorder so that treatable causes of regression, like vitamin B12 deficiency, are not missed.
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17. Manning-Courtney P, Murray D, Currans K, Johnson H, Bing N, Kroeger-Geoppinger K, Sorensen R, Bass J, Reinhold J, Johnson A, Messerschmidt T. {{Autism spectrum disorders}}. {Curr Probl Pediatr Adolesc Health Care};2013 (Jan);43(1):2-11.
Autism spectrum disorders are being diagnosed with increasing frequency. The likelihood that a primary care provider will see a patient with autism spectrum disorder in their clinic is high. In this article, current diagnostic criteria and expected changes in DSM criteria, as well as prevalence rates and epidemiologic studies are reviewed. Recommendations for screening, including early warning signs, and best practices for diagnosis are discussed. Comprehensive evidence based intervention for ASD as well as the findings of the National Standards Project are reviewed. Medication management is also described, as are the roles of other treating professionals.
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18. Minniti G, Lorini R, Veneselli E, Vergani L, Voci A, Calevo MG, Battaglia FM. {{Are psychobiological markers strongly correlated with allostatic load in population with autism spectrum disorders (ASD)?}}. {Med Hypotheses};2013 (Jan 16)
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19. Morhardt DR, Barrow W, Jaworski M, Accardo PJ. {{Head Circumference in Young Children With Autism: The Impact of Different Head Circumference Charts}}. {J Child Neurol};2013 (Jan 17)
The hypothesis that the presence of macrocephaly might vary with the specific growth chart used was tested by using the Nellahus, CDC, and recent Rollins et al revision head circumference charts to plot the head circumferences of 253 children with neurodevelopmental disorders and with ages between 12 to 36 months; of these children, 59 had a diagnosis of autism spectrum disorder. The CDC and Rollins et al head circumference charts identified more cases of macrocephaly and fewer cases of microcephaly than did the older Nellhaus chart but did not significantly differ in their identification of macrocephaly in children with autism.
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20. Pareja-Galeano H, Sanchis-Gomar F, Mayero S. {{Autism spectrum disorders: possible implications of BDNF modulation through epigenetics}}. {Acta Psychiatr Scand};2013 (Jan 20)
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21. Reimer B, Fried R, Mehler B, Joshi G, Bolfek A, Godfrey KM, Zhao N, Goldin R, Biederman J. {{Brief Report: Examining Driving Behavior in Young Adults with High Functioning Autism Spectrum Disorders: A Pilot Study Using a Driving Simulation Paradigm}}. {J Autism Dev Disord};2013 (Jan 22)
Although it is speculated that impairments associated with autism spectrum disorder (ASD) will adversely affect driving performance, little is known about the actual extent and nature of the presumed deficits. Ten males (18-24 years of age) with a diagnosis of high functioning autism and 10 age matched community controls were recruited for a driving simulation experiment. Driving behavior, skin conductance, heart rate, and eye tracking measurements were collected. The high functioning ASD participants displayed a nominally higher and unvaried heart rate compared to controls. With added cognitive demand, they also showed a gaze pattern suggestive of a diversion of visual attention away from high stimulus areas of the roadway. This pattern deviates from what is presumed to be optimal safe driving behavior and appears worthy of further study.
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22. Rodriguez-Rubio L, Martinez-Lucas PL, Jimenez-Tortosa R, Monsalve-Naharro JA. {{[Rett syndrome: Anaesthetic considerations and pain threshold assessment in scoliosis surgery.]}}. {Rev Esp Anestesiol Reanim};2013 (Jan 16)
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23. Rosman NP, Bergia BM. {{Childhood Disintegrative Disorder: Distinction From Autistic Disorder and Predictors of Outcome}}. {J Child Neurol};2013 (Jan 22)
Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disintegrative disorder, collected over 8 years, and followed for 2.5 to 22 years (mean 8.6 years). Childhood disintegrative disorder begins later in life than autism, and following a period of entirely normal development; the regression is more global and more severe than in autism; seizures are more frequent than in autism, yet demonstrable organicity in childhood disintegrative disorder is decidedly rare. Lastly, the prognosis is usually much worse than in autism, but in those cases with neither seizures nor epileptiform activity on electroencephalography (EEG), the outcome may be more favorable. Childhood disintegrative disorder should be viewed as a condition distinct from childhood autism.
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24. Smith K, Chandler K, Hindley D, Ramsden SC. {{Fragile X syndrome testing in the North West}}. {Arch Dis Child};2013 (Jan 18)
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25. Solomon R. {{Commentary on ‘autism spectrum disorders’}}. {Curr Probl Pediatr Adolesc Health Care};2013 (Jan);43(1):12-16.
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26. Tang G, Rios PG, Kuo SH, Akman O, Rosoklija G, Tanji K, Dwork A, Schon EA, Dimauro S, Goldman J, Sulzer D. {{Mitochondrial Abnormalities in Temporal Lobe of Autistic Brain}}. {Neurobiol Dis};2013 (Jan 16)
Autism spectrum disorder (ASD) consists of a group of complex developmental disabilities characterized by impaired social interactions, deficits in communication and repetitive behavior. Multiple lines of evidence implicate mitochondrial dysfunction in ASD. In postmortem BA21 temporal cortices, a region that exhibits synaptic pathology in ASD, we found that compared to controls, ASD patients exhibited altered protein levels of mitochondria respiratory chain protein complexes, decreased Complex I and IV activities, decreased mitochondrial antioxidant enzyme SOD2, and greater oxidative DNA damage. Mitochondrial membrane mass was higher in ASD brain, as indicated by higher protein levels of mitochondrial membrane proteins Tom20, Tim23 and porin. No differences were observed in either mitochondrial DNA or levels of the mitochondrial gene transcription factor TFAM or cofactor PGC1alpha, indicating that a mechanism other than alterations in mitochondrial genome or mitochondrial biogenesis underlies these mitochondrial abnormalities. We further identified higher levels of the mitochondrial fission proteins (Fis1 and Drp1) and decreased levels of the fusion proteins (Mfn1, Mfn2 and Opa1) in ASD patients, indicating altered mitochondrial dynamics in ASD brain. Many of these changes were evident in cortical pyramidal neurons, and were observed in ASD children but were less pronounced or absent in adult patients. Together, these findings provide evidence that mitochondrial function and intracellular redox status are compromised in pyramidal neurons in ASD brain and that mitochondrial dysfunction occurs during early childhood when ASD symptoms appear.
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27. Thompson S, Hiebert-Murphy D, Trute B. {{Parental perceptions of family adjustment in childhood developmental disabilities}}. {J Intellect Disabil};2013 (Jan 18)
Based on the adjustment phase of the double ABC-X model of family stress (McCubbin and Patterson, 1983) this study examined the impact of parenting stress, positive appraisal of the impact of child disability on the family, and parental self-esteem on parental perceptions of family adjustment in families of children with disabilities. For mothers, self-esteem and positive appraisal predicted maternal-perceived family adjustment and mediated the relationship between parenting stress and family adjustment. For fathers, while self-esteem and positive appraisal were not significant in directly predicting perceived family adjustment, self-esteem moderated the relationship between parenting stress and family adjustment. These results suggest that interventions that bolster self-esteem in parents may be useful in enhancing perceptions of family adjustment. Similarly, interventions that enhance mothers’ experiences of the positive aspects of parenting a child with disabilities hold potential to strengthen family adjustment.
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28. van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH. {{Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders}}. {Neurogenetics};2013 (Jan 20)
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravet-like and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epilepsy, 136 females with EFMR features and 20 males with ASD. Phenotypes and genotypes of the PCDH19 mutation carriers were compared with those of 125 females with EFMR reported in the literature. We report 15 additional patients with a PCDH19 mutation. Review of clinical data of all reported patients showed that the clinical picture of EFMR is heterogeneous, but epilepsy onset in infancy, fever sensitivity and occurrence of seizures in clusters are key features. Seizures remit in the majority of patients during teenage years. Intellectual disability and behavioural disturbances are common. Fifty percent of all mutations are missense mutations, located in the extracellular domains only. Truncating mutations have been identified in all protein domains. One ASD proband carried one missense mutation predicted to have a deleterious effect, suggesting that ASD in males can be associated with PCDH19 mutations.
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29. Washington SD, Gordon EM, Brar J, Warburton S, Sawyer AT, Wolfe A, Mease-Ference ER, Girton L, Hailu A, Mbwana J, Gaillard WD, Kalbfleisch ML, Vanmeter JW. {{Dysmaturation of the default mode network in autism}}. {Hum Brain Mapp};2013 (Jan 18)
Two hypotheses of autism spectrum disorder (ASD) propose that this condition is characterized by deficits in Theory of Mind and by hypoconnectivity between remote cortical regions with hyperconnectivity locally. The default mode network (DMN) is a set of remote, functionally connected cortical nodes less active during executive tasks than at rest and is implicated in Theory of Mind, episodic memory, and other self-reflective processes. We show that children with ASD have reduced connectivity between DMN nodes and increased local connectivity within DMN nodes and the visual and motor resting-state networks. We show that, like the trajectory of synaptogenesis, internodal DMN functional connectivity increased as a quadratic function of age in typically developing children, peaking between, 11 and 13 years. In children with ASD, these long-distance connections fail to develop during adolescence. These findings support the « developmental disconnection model » of ASD, provide a possible mechanistic explanation for the Theory-of-Mind hypothesis of ASD, and show that the window for effectively treating ASD could be wider than previously thought. Hum Brain Mapp, 2013. (c) 2013 Wiley Periodicals, Inc.
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30. Yang DY, Baillargeon R. {{Brief Report: Difficulty in Understanding Social Acting (But Not False Beliefs) Mediates the Link Between Autistic Traits and Ingroup Relationships}}. {J Autism Dev Disord};2013 (Jan 19)
Why do individuals with more autistic traits experience social difficulties? Here we examined the hypothesis that these difficulties stem in part from a challenge in understanding social acting, the prosocial pretense that adults routinely produce to maintain positive relationships with their ingroup. In Study 1, we developed a self-administered test of social-acting understanding: participants read stories in which a character engaged in social acting and rated the appropriateness of the character’s response. Adults who scored 26 or higher on the Autism Spectrum Quotient (AQ) questionnaire gave significantly lower ratings than comparison participants (AQ < 26). Study 2 found that difficulty in understanding social acting, but not false beliefs, mediated the link between autistic traits and perceived ingroup relationships.
