1. Frolli A, Piscopo S, Conson M. {{Developmental changes in cognitive and behavioural functioning of adolescents with fragile-X syndrome}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural profile of individuals with fragile-X syndrome. To this scope, we assessed intellectual functioning, adaptive behaviour, autistic symptomatology, behavioural problems (e.g. hyperactivity/lack of attention) and strengths (prosocial behaviours). METHOD: Thirty-six participants underwent standardised outcome measures (i.e. the Wechsler Intelligence Scales-Revised, the Childhood Autism Rating Scale, the Vineland Adaptive Behavior Scales, and the Strengths and Difficulty Questionnaire) in three time points (Time 1: 9-11; Time 2: 11-13, and Time 3: 13-15 years). RESULTS: Verbal IQ improved across time, whereas Nonverbal IQ declined and Full Scale IQ was quite unchanged. Autism ratings decreased; communication and social aspects of adaptive behaviour also enhanced. Finally, elevated levels of hyperactivity/lack of attention at Time 1 significantly improved across the three time points, whereas emotional symptoms, behavioural difficulties, problems with peers and prosocial behaviours remained stable over time. CONCLUSION: These findings revealed specific developmental changes in cognitive and behavioural functioning of individuals with fragile-X syndrome, likely related to a progressive maturation of brain systems devoted to attentional control.
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2. Goldani AA, Downs SR, Widjaja F, Lawton B, Hendren RL. {{Biomarkers in autism}}. {Front Psychiatry}. 2014; 5: 100.
Autism spectrum disorders (ASDs) are complex, heterogeneous disorders caused by an interaction between genetic vulnerability and environmental factors. In an effort to better target the underlying roots of ASD for diagnosis and treatment, efforts to identify reliable biomarkers in genetics, neuroimaging, gene expression, and measures of the body’s metabolism are growing. For this article, we review the published studies of potential biomarkers in autism and conclude that while there is increasing promise of finding biomarkers that can help us target treatment, there are none with enough evidence to support routine clinical use unless medical illness is suspected. Promising biomarkers include those for mitochondrial function, oxidative stress, and immune function. Genetic clusters are also suggesting the potential for useful biomarkers.
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3. Guillon Q, Hadjikhani N, Baduel S, Kruck J, Arnaud M, Roge B. {{Both dog and human faces are explored abnormally by young children with autism spectrum disorders}}. {Neuroreport}. 2014.
When looking at faces, typical individuals tend to have a right hemispheric bias manifested by a tendency to look first toward the left visual hemifield. Here, we tested for the presence of this bias in young children with autism spectrum disorders (ASD) for both human and dog faces. We show that children with ASD do not show a left visual hemifield (right hemispheric) bias for human faces. In addition, we show that this effect extends to faces of dogs, suggesting that the absence of bias is not specific to human faces, but applies to all faces with the first-order configuration, pointing to an anomaly at an early stage of visual analysis of faces. The lack of right hemispheric dominance for face processing may reflect a more general disorder of cerebral specialization of social functions in ASD.
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4. Kadam SD, French BM, Kim ST, Morris-Berry CM, Zimmerman AW, Blue ME, Singer HS. {{Altered postnatal cell proliferation in brains of mouse pups prenatally exposed to IgG from mothers of children with autistic disorder}}. {J Exp Neurosci}. 2013; 7: 93-9.
Auto antibodies found in the mothers of children with autistic disorder (MCAD) when passively transferred to pregnant mice cause behavioral alterations in juvenile and adult offspring. The goal of this study was to identify whether intraperitoneal injection of MCAD-IgG during gestation affected postnatal cell proliferation and survival in P7 offspring. Pooled MCAD-IgG or IgG from mothers of unaffected children (MUC) or phosphate-buffered saline was injected daily into C57BL/J6 pregnant dams (gestational days E13-E18). MCAD-IgG exposure significantly increased cell proliferation in the subventricular and subgranular zones. In contrast, BrdU-labeled cells on P1 and surviving until P7 (P1-generated cells) showed reduced cell densities in layers 2-4 of frontal and parietal cortices of MCAD mice compared to those in MUC and PBS-injected mice. In conclusion, significant increases in cell proliferation at P7 and reduced densities of P1-generated cells distinguish in utero exposure to MCAD compared to MUC and PBS.
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5. Li SO, Wang JL, Bjorklund G, Zhao WN, Yin CH. {{Serum copper and zinc levels in individuals with autism spectrum disorders}}. {Neuroreport}. 2014.
Trace elements play a critical role in the pathogenesis of autism spectrum disorders (ASD). The aim of this study was to investigate the serum levels of zinc (Zn) and copper (Cu) in Chinese children with ASD. Sixty patients (48 males, 12 females) diagnosed with ASD and 60 healthy sex-matched and age-matched control participants were assessed for serum Zn and Cu content at admission. The severity of ASD was also evaluated using the Childhood Autism Rating Scale (CARS) score. The results indicated that the mean serum Zn levels and Zn/Cu ratio were significantly lower in children with ASD compared with normal cases (P<0.001, respectively), whereas serum Cu levels were significantly higher (P<0.001). There was a significant negative association between Zn/Cu and CARS scores (r=-0.345, P=0.007). On the basis of the receiver operating characteristic curve, the optimal cut-off value of serum levels of Zn/Cu as an indicator for an auxiliary diagnosis of autism was projected to be 0.665, which yielded a sensitivity of 90.0% and a specificity of 91.7%; the area under the curve was 0.968 (95% confidence interval, 0.943-0.993). In conclusion, these results suggested an association between serum levels of Zn and Cu and ASD among Chinese patients, and the Zn/Cu ratio could be considered a biomarker of ASD.
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6. Mulder AM, Cashin A. {{The need to support students with autism at university}}. {Issues Ment Health Nurs}. 2014; 35(9): 664-71.
Publicity surrounds the increased prevalence of autism. However, in contrast to support in primary and secondary schools, there exists little focus on supporting students with autism at university. Mental health nurses are well placed to facilitate support programmes for students with autism who have the capacity for higher education. This article examines the international literature around the support needs for these students and discusses opportunities that exist to support these students, their families, and higher education staff. Research is urgently needed to evaluate the success of such interventions, particularly in light of the low participation rates in study and work for people with autism.
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7. Perkins TJ, Stokes MA, McGillivray JA, Mussap AJ, Cox IA, Maller JJ, Bittar RG. {{Increased left hemisphere impairment in high-functioning autism: A tract based spatial statistics study}}. {Psychiatry Res}. 2014.
There is evidence emerging from Diffusion Tensor Imaging (DTI) research that autism spectrum disorders (ASD) are associated with greater impairment in the left hemisphere. Although this has been quantified with volumetric region of interest analyses, it has yet to be tested with white matter integrity analysis. In the present study, tract based spatial statistics was used to contrast white matter integrity of 12 participants with high-functioning autism or Aspergers syndrome (HFA/AS) with 12 typically developing individuals. Fractional Anisotropy (FA) was examined, in addition to axial, radial and mean diffusivity (AD, RD and MD). In the left hemisphere, participants with HFA/AS demonstrated significantly reduced FA in predominantly thalamic and fronto-parietal pathways and increased RD. Symmetry analyses confirmed that in the HFA/AS group, WM disturbance was significantly greater in the left compared to right hemisphere. These findings contribute to a growing body of literature suggestive of reduced FA in ASD, and provide preliminary evidence for RD impairments in the left hemisphere.
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8. Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N. {{The multiple molecular facets of fragile X-associated tremor/ataxia syndrome}}. {J Neurodev Disord}. 2014; 6(1): 23.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset inherited neurodegenerative disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, and cognitive decline. FXTAS is caused by the presence of a long CGG repeat tract in the 5′ UTR of the FMR1 gene. In contrast to Fragile X syndrome, in which the FMR1 gene harbors over 200 CGG repeats but is transcriptionally silent, the clinical features of FXTAS arise from a toxic gain of function of the elevated levels of FMR1 transcript containing the long CGG tract. However, how this RNA leads to neuronal cell dysfunction is unknown. Here, we discuss the latest advances in the current understanding of the possible molecular basis of FXTAS.
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9. Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF. {{The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism}}. {Am J Med Genet C Semin Med Genet}. 2014.
Mutations in ADNP were recently identified as a frequent cause of syndromic autism, characterized by deficits in social communication and interaction and restricted, repetitive behavioral patterns. Based on its functional domains, ADNP is a presumed transcription factor. The gene interacts closely with the SWI/SNF complex by direct and experimentally verified binding of its C-terminus to three of its core components. A detailed and systematic clinical assessment of the symptoms observed in our patients allows a detailed comparison with the symptoms observed in other SWI/SNF disorders. While the mutational mechanism of the first 10 patients identified suggested a gain of function mechanism, an 11th patient reported here is predicted haploinsufficient. The latter observation may raise hope for therapy, as addition of NAP, a neuroprotective octapeptide named after the first three amino acids of the sequence NAPVSPIQ, has been reported by others to ameliorate some of the cognitive abnormalities observed in a knockout mouse model. It is concluded that detailed clinical and molecular studies on larger cohorts of patients are necessary to establish a better insight in the genotype phenotype correlation and in the mutational mechanism. (c) 2014 Wiley Periodicals, Inc.
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10. Whitney R, Moharir M, Allen A, Cortez MA. {{Paroxysmal alpha activity in rett syndrome: a case report}}. {Pediatr Neurol}. 2014; 51(3): 421-5.
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Classically the disorder is characterized by early normal development, followed by a period of regression and later recovery or stagnation. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. Epilepsy affects between 70% and 90% of individuals with Rett syndrome. A number of stereotypical electroencephalography findings have been reported in Rett syndrome. PATIENT DESCRIPTION: We report a 9-year-old girl with Rett syndrome and epilepsy with a unique electroencephalography finding consisting of intermittent paroxysms of alpha activity in both wakefulness and sleep without clinical signs. RESULTS: This unique electroencephalography signature has not previously been reported in the English literature. CONCLUSIONS: Knowledge of this unique electroencephalography pattern of diffuse paroxysmal alpha activity represents an additional distinct feature of the electroencephalogram in Rett syndrome and expands the spectrum of electroencephalography abnormalities in Rett syndrome.
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11. Yates D. {{Autism: pinpointing common deficits}}. {Nat Rev Neurosci}. 2014; 15(8): 493.
