1. Ciccoli L, De Felice C, Leoncini S, Signorini C, Cortelazzo A, Zollo G, Pecorelli A, Rossi M, Hayek J. {{Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization}}. {Biol Chem};2015 (Jun 3)
In this review, we summarize the current evidence on the erythrocyte as a previously unrecognized target cell in Rett syndrome, a rare (1:10 000 females) and devastating neurodevelopmental disorder caused by loss-of-function mutations in a single gene (i.e. MeCP2, CDKL5, or rarely FOXG1). In particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical Rett syndrome and MeCP2 gene mutations. The beneficial effects of omega-3 polyunsaturated fatty acids (PUFAs) are also summarized for this condition to be considered as a ‘model’ condition for autism spectrum disorders.
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2. Ellegood J, Crawley JN. {{Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism}}. {Neurotherapeutics};2015 (Jun 3)
In order to understand the consequences of the mutation on behavioral and biological phenotypes relevant to autism, mutations in many of the risk genes for autism spectrum disorder have been experimentally generated in mice. Here, we summarize behavioral outcomes and neuroanatomical abnormalities, with a focus on high-resolution magnetic resonance imaging of postmortem mouse brains. Results are described from multiple mouse models of autism spectrum disorder and comorbid syndromes, including the 15q11-13, 16p11.2, 22q11.2, Cntnap2, Engrailed2, Fragile X, Integrinbeta3, MET, Neurexin1a, Neuroligin3, Reelin, Rett, Shank3, Slc6a4, tuberous sclerosis, and Williams syndrome models, and inbred strains with strong autism-relevant behavioral phenotypes, including BTBR and BALB. Concomitant behavioral and neuroanatomical abnormalities can strengthen the interpretation of results from a mouse model, and may elevate the usefulness of the model system for therapeutic discovery.
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3. Gabel HW, Kinde B, Stroud H, Gilbert CS, Harmin DA, Kastan NR, Hemberg M, Ebert DH, Greenberg ME. {{Disruption of DNA-methylation-dependent long gene repression in Rett syndrome}}. {Nature};2015 (Jun 4);522(7554):89-93.
Disruption of the MECP2 gene leads to Rett syndrome (RTT), a severe neurological disorder with features of autism. MECP2 encodes a methyl-DNA-binding protein that has been proposed to function as a transcriptional repressor, but despite numerous mouse studies examining neuronal gene expression in Mecp2 mutants, no clear model has emerged for how MeCP2 protein regulates transcription. Here we identify a genome-wide length-dependent increase in gene expression in MeCP2 mutant mouse models and human RTT brains. We present evidence that MeCP2 represses gene expression by binding to methylated CA sites within long genes, and that in neurons lacking MeCP2, decreasing the expression of long genes attenuates RTT-associated cellular deficits. In addition, we find that long genes as a population are enriched for neuronal functions and selectively expressed in the brain. These findings suggest that mutations in MeCP2 may cause neurological dysfunction by specifically disrupting long gene expression in the brain.
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4. Grahame V, Brett D, Dixon L, McConachie H, Lowry J, Rodgers J, Steen N, Le Couteur A. {{Managing Repetitive Behaviours in Young Children with Autism Spectrum Disorder (ASD): Pilot Randomised Controlled Trial of a New Parent Group Intervention}}. {J Autism Dev Disord};2015 (Jun 3)
Early intervention for autism spectrum disorder (ASD) tends to focus on enhancing social-communication skills. We report the acceptability, feasibility and impact on child functioning of a new 8 weeks parent-group intervention to manage restricted and repetitive behaviours (RRB) in young children with ASD aged 3-7 years. Forty-five families took part in the pilot RCT. A range of primary and secondary outcome measures were collected on four occasions (baseline, 10, 18 and 24 weeks) to capture both independent ratings and parent-reported changes in RRB. This pilot established that parents were willing to be recruited and randomised, and the format and content of the intervention was feasible. Fidelity of delivery was high, and attendance was 90 %. A fully powered trial is now planned.
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5. Kaat AJ, Lecavalier L. {{Reliability and Validity of Parent- and Child-Rated Anxiety Measures in Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jun 3)
Autism spectrum disorder (ASD) and anxiety frequently co-occur. Research on the phenomenology and treatment of anxiety in ASD is expanding, but is hampered by the lack of instruments validated for this population. This study evaluated the self- and parent-reported Revised Child Anxiety and Depression Scale and the Multidimensional Anxiety Scale in Children-2 among 46 youth with ASD. Internal consistency and test-retest reliability were acceptable, but inter-rater reliability was poor. Parent-child agreement was better for youth with higher IQs, less severe ASD symptoms, or more social cognitive skills. Convergent and divergent validity were acceptable. Demographic characteristics were considered as predictors of anxiety: they were unrelated to parent-report, but younger age and more severe ASD were related to increased self-reported anxiety.
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6. Kurita D, Wakuda T, Takagai S, Takahashi Y, Iwata Y, Suzuki K, Mori N. {{Deterioration of clinical features of a patient with autism spectrum disorder after anti-NMDA-receptor encephalitis}}. {Psychiatry Clin Neurosci};2015 (Jun 2)
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7. Marshall D, Goodall C. {{The Right to Appropriate and Meaningful Education for Children with ASD}}. {J Autism Dev Disord};2015 (Jun 3)
This paper will explore from a ‘child’s rights perspective’ the ‘right’ of children with autistic spectrum disorder (ASD) to appropriate and meaningful education. Human ‘rights’ principles within international law will be evaluated in relation to how they have been interpreted and applied in relation to achieving this ‘right’. The International Convention of the Rights of the Child (United Nations in Convention on the rights of the child, office of the high commissioner, United Nations, Geneva, 1989) and the convention on the rights of the person with disability (United Nations in Convention on the rights of person’s with disabilities and optional protocol, office of the high commissioner, United Nations, Geneva, 2006) amongst others will be utilised to argue the case for ‘inclusive’ educational opportunities to be a ‘right’ of every child on the autistic spectrum. The efficacy of mainstream inclusion is explored, identifying the position that a ‘one size fits all’ model of education is not appropriate for all children with ASD.
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8. Piochon C, Kloth AD, Grasselli G, Titley HK, Nakayama H, Hashimoto K, Wan V, Simmons DH, Eissa T, Nakatani J, Cherskov A, Miyazaki T, Watanabe M, Takumi T, Kano M, Wang SS, Hansel C. {{Corrigendum: Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism}}. {Nat Commun};2015;6:6014.
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9. Ronneberg CR, Peters-Beumer L, Marks B, Factor A. {{Promoting collaboration between hospice and palliative care providers and adult day services for individuals with intellectual and developmental disabilities}}. {Omega (Westport)};2015;70(4):380-403.
While end-of-life issues are increasingly gaining more attention, people with intellectual and developmental disabilities (IDD) continue to receive significantly less consideration in research, education, and clinical practice compared with the general population. This is a growing concern especially since the sheer number of persons aging with IDD is expected to double in the next 17 years. Furthermore, policies are shifting to reflect a preference for home and community-based services as an alternative to institutionalization, and it becomes evident that adult day services (ADS) may be ideal settings for receipt of end-of-life care, especially among individuals with IDD. However, end-of-life care and advance planning most commonly occur in long-term care settings for the general population and have historically been less of a priority in ADS and residential services for people with IDD. This article discusses the attitudes of, and collaboration between, ADS and end-of-life providers for aging adults including persons with IDD and explores how ADS may be a great pathway for delivering end-of-life care to the IDD population. Implications and recommendations will also be examined.
10. Samson F, Zeffiro TA, Doyon J, Benali H, Mottron L. {{Speech acquisition predicts regions of enhanced cortical response to auditory stimulation in autism spectrum individuals}}. {J Psychiatr Res};2015 (May 21)
A continuum of phenotypes makes up the autism spectrum (AS). In particular, individuals show large differences in language acquisition, ranging from precocious speech to severe speech onset delay. However, the neurological origin of this heterogeneity remains unknown. Here, we sought to determine whether AS individuals differing in speech acquisition show different cortical responses to auditory stimulation and morphometric brain differences. Whole-brain activity following exposure to non-social sounds was investigated. Individuals in the AS were classified according to the presence or absence of Speech Onset Delay (AS-SOD and AS-NoSOD, respectively) and were compared with IQ-matched typically developing individuals (TYP). AS-NoSOD participants displayed greater task-related activity than TYP in the inferior frontal gyrus and peri-auditory middle and superior temporal gyri, which are associated with language processing. Conversely, the AS-SOD group only showed enhanced activity in the vicinity of the auditory cortex. We detected no differences in brain structure between groups. This is the first study to demonstrate the existence of differences in functional brain activity between AS individuals divided according to their pattern of speech development. These findings support the Trigger-threshold-target model and indicate that the occurrence of speech onset delay in AS individuals depends on the location of cortical functional reallocation, which favors perception in AS-SOD and language in AS-NoSOD.
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11. Takahashi N, Tarumi W, Itoh MT, Ishizuka B. {{The Stage- and Cell Type-Specific Localization of Fragile X Mental Retardation Protein in Rat Ovaries}}. {Reprod Sci};2015 (Jun 2)
Premutations of the fragile X mental retardation 1 (FMR1) gene are associated with increased risk of primary ovarian insufficiency. Here we examined the localization of the Fmr1 gene protein product, fragile X mental retardation protein (FMRP), in rat ovaries at different stages, including fetus, neonate, and old age. In ovaries dissected from 19 days postcoitum embryos, the germ cells were divided into 2 types: one with decondensed chromatin in the nucleus was FMRP positive in the cytoplasm, but the other with strongly condensed chromatin in the nucleus was FMRP negative in the cytoplasm. The FMRP was predominantly localized to the cytoplasm of oocytes in growing ovarian follicles. Levels of FMRP in oocytes from elderly (9 or 14 months of age) ovaries were lower than in those from younger ovaries. These results suggest that FMRP is associated with the activation of oogenesis and oocyte function. Especially, FMRP is likely to be implicated in germline development during oogenesis.
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12. Timonen-Soivio L, Sourander A, Malm H, Hinkka-Yli-Salomaki S, Gissler M, Brown A, Vanhala R. {{The Association Between Autism Spectrum Disorders and Congenital Anomalies by Organ Systems in a Finnish National Birth Cohort}}. {J Autism Dev Disord};2015 (Jun 3)
The aim of this study was to evaluate the association between autism spectrum disorders (ASD) with and without intellectual disability (ID) and congenital anomalies (CAs) by organ system. The sample included all children diagnosed with ASD (n = 4441) from the Finnish Hospital Discharge Register during 1987-2000 and a total of four controls per case (n = 17,695). CAs of the eye, central nervous system, and specific craniofacial anomalies were most strongly associated with ASD. Children with ASD and co-occurring ID were more likely to have CAs compared to ASD children without ID. The results suggest that some cases of ASD may originate during organogenesis, in the early first trimester of pregnancy. The results of this study may be useful for identifying prenatal etiological factors and elucidating the molecular pathogenesis of ASD.
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13. Van Ballaer K, Vandenbulcke M. {{Pathological crying associated with fragile x-associated tremor/ataxia syndrome}}. {J Neuropsychiatry Clin Neurosci};2014 (Fall);26(4):E21-22.
