1. Donaldson SO, Elder JH, Self EH, Christie MB. {{Fathers’ perceptions of their roles during in-home training for children with autism}}. {J Child Adolesc Psychiatr Nurs};2011 (Nov);24(4):200-207.
PROBLEM: Currently, most research related to parents of children with autism has focused on mothers, and little is known about the fathers’ interaction with their children. PURPOSE: The purpose of the qualitative study is to assist in more fully describing and understanding fathers’ perceptions of their roles, relationships with their children with autism, and participation in an in-home training intervention designed to enhance parent-child interactions as well as child language and social interactions. METHODS: In depth semi-structured interviews with 10 fathers were conducted at home, videotaped, transcribed, and reviewed for common themes and significant statements FINDINGS: Five common themes were discovered, fathers expressed their view of their roles, and fathers reported the father-directed in-home intervention was effective in enhancing father-child relationships. CONCLUSION: Communication between fathers and their children appears to be the key to a successful relationship. Although verbal communication deficit is a predominant feature of autism, these fathers noted other ways of effective communicating including time spent playing or just being with the child.
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2. Felce D, Perry J. {{Diagnostic grouping among adults with intellectual disabilities and autistic spectrum disorders in staffed housing}}. {J Intellect Disabil Res};2011 (Nov 2)
Background There is little evidence to guide the commissioning of residential provision for adults with autistic spectrum disorder (ASD) in the UK. We aim to explore the degree and impact of diagnostic congregation among adults with intellectual disabilities (ID) and ASD living in staffed housing. Methods One hundred and fifty-seven adults with intellectual disabilities from a sample of 424 in staffed housing were assessed as having the triad of impairments characteristic of ASD. They lived in 88 houses: 26 were non-congregate (40% or fewer residents had the triad) and 50 congregate (60% or more had the triad); 12 with intermediate groupings were eliminated. Non-congregate and congregate groups were compared on age, gender, adaptive and challenging behaviour, house size, staff per resident and various measures of quality of care and quality of outcome. Comparisons were repeated for Adaptive Behavior Scale (ABS)-matched, congregate and non-congregate subsamples. Results Non-congregate settings were larger, had lower staff per resident and more individualised social milieus. Groups were similar in age and gender but the non-congregate group had non-significantly higher ABS scores. The non-congregate group did more social, community and household activities. After matching for ABS, these outcome differences ceased to be significant. Non-congregate settings were significantly larger and had significantly more organised working methods. Conclusions The findings are consistent with other research that finds few advantages to diagnostic grouping.
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3. Malenfant P, Liu X, Hudson ML, Qiao Y, Hrynchak M, Riendeau N, Hildebrand MJ, Cohen IL, Chudley AE, Forster-Gibson C, Mickelson EC, Rajcan-Separovic E, Lewis ME, Holden JJ. {{Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Nov 3)
Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors.
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4. Malik M, Tauqeer Z, Sheikh AM, Wen G, Nagori A, Yang K, Brown WT, Li X. {{NF-kappaB Signaling in the Brain of Autistic Subjects}}. {Mediators Inflamm};2011;2011:785265.
Autism is a neurodevelopmental disorder characterized by problems in communication, social skills, and repetitive behavior. Recent studies suggest that apoptotic and inflammatory mechanisms may contribute to the pathogenesis of this disorder. Nuclear factor-kappaB (NF-kappaB) is an important gene transcriptional factor involved in the mediation of inflammation and apoptosis. This study examined the activities of the NF-kappaB signaling pathway in the brain of autistic subjects and their age-matched controls. The NF-kappaB activation is also determined in the brain of BTBR mice, which is a promising animal model for study of pathogenic mechanisms responsible for autism. Our results showed that the level of IKKalpha kinase, which phosphorylates the inhibitory subunit IkappaBalpha, is significantly increased in the cerebellum of autistic subjects. However, the expression and phosphorylation of IkappaBalpha are not altered. In addition, our results demonstrated that the expression of NF-kappaB (p65), and the phosphorylation/activation of NF-kappaB (p65) at Ser536 are not significantly changed in the cerebellum and cortex of both autistic subjects and BTBR mice. Our findings suggest that the NF-kappaB signaling pathway is not disregulated in the brain of autistic subjects and thus may not be significantly involved in the processes of abnormal inflammatory responses suggested in autistic brain.
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5. Menezo Y, Mares P, Cohen M, Brack M, Viville S, Elder K. {{Autism, imprinting and epigenetic disorders: a metabolic syndrome linked to anomalies in homocysteine recycling starting in early life??}}. {J Assist Reprod Genet};2011 (Nov 3)
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6. Nygren G, Cederlund M, Sandberg E, Gillstedt F, Arvidsson T, Carina Gillberg I, Westman Andersson G, Gillberg C. {{The Prevalence of Autism Spectrum Disorders in Toddlers: A Population Study of 2-Year-Old Swedish Children}}. {J Autism Dev Disord};2011 (Nov 3)
Autism Spectrum Disorder (ASD) is more common than previously believed. ASD is increasingly diagnosed at very young ages. We report estimated ASD prevalence rates from a population study of 2-year-old children conducted in 2010 in Gothenburg, Sweden. Screening for ASD had been introduced at all child health centers at child age 21/2 years. All children with suspected ASD were referred for evaluation to one center, serving the whole city of Gothenburg. The prevalence for all 2-year-olds referred in 2010 and diagnosed with ASD was 0.80%. Corresponding rates for 2-year-olds referred to the center in 2000 and 2005 (when no population screening occurred) were 0.18 and 0.04%. Results suggest that early screening contributes to a large increase in diagnosed ASD cases.
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7. Pellegrino L, Liptak GS. {{Consultation with the specialist: asperger syndrome}}. {Pediatr Rev};2011 (Nov);32(11):481-489.
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8. Westmark CJ, Westmark PR, O’Riordan KJ, Ray BC, Hervey CM, Salamat MS, Abozeid SH, Stein KM, Stodola LA, Tranfaglia M, Burger C, Berry-Kravis EM, Malter JS. {{Reversal of Fragile X Phenotypes by Manipulation of AbetaPP/Abeta Levels in Fmr1 Mice}}. {PLoS One};2011;6(10):e26549.
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading known genetic cause of autism. Fragile X mental retardation protein (FMRP), which is absent or expressed at substantially reduced levels in FXS, binds to and controls the postsynaptic translation of amyloid beta-protein precursor (AbetaPP) mRNA. Cleavage of AbetaPP can produce beta-amyloid (Abeta), a 39-43 amino acid peptide mis-expressed in Alzheimer’s disease (AD) and Down syndrome (DS). Abeta is over-expressed in the brain of Fmr1(KO) mice, suggesting a pathogenic role in FXS. To determine if genetic reduction of AbetaPP/Abeta rescues characteristic FXS phenotypes, we assessed audiogenic seizures (AGS), anxiety, the ratio of mature versus immature dendritic spines and metabotropic glutamate receptor (mGluR)-mediated long-term depression (LTD) in Fmr1(KO) mice after removal of one App allele. All of these phenotypes were partially or completely reverted to normal. Plasma Abeta(1-42) was significantly reduced in full-mutation FXS males compared to age-matched controls while cortical and hippocampal levels were somewhat increased, suggesting that Abeta is sequestered in the brain. Evolving therapies directed at reducing Abeta in AD may be applicable to FXS and Abeta may serve as a plasma-based biomarker to facilitate disease diagnosis or assess therapeutic efficacy.
