1. Eseigbe EE, Nuhu FT, Sheikh TL, Eseigbe P, Sanni KA, Olisah VO. {{Knowledge of Childhood Autism and Challenges of Management among Medical Doctors in Kaduna State, Northwest Nigeria}}. {Autism Res Treat}. 2015; 2015: 892301.
Autism is a neurodevelopmental disorder with serious implications in childhood. There is a significant gap in the identification and provision of health and social services for autism in Africa. The knowledge of autism among health care providers and identifying challenges associated with its management could facilitate bridging the gap and ensuring better outcomes. A self-administered tool, the Knowledge about Childhood Autism among Health Workers (KCAHW) questionnaire, was used in assessing knowledge of autism among 175 medical doctors (participants) attending an annual scientific meeting in northwest Nigeria. Other parameters assessed were sociodemographic and professional characteristics of the participants and challenges encountered in the management of autism. Out of 175 questionnaires distributed, 167 (95.4%) were returned. Good knowledge (KCAHW score >/=15) was significantly associated with being a paediatrician or psychiatrist and practicing in a tertiary health facility (P < 0.05), while poor knowledge (KCAHW score <15) was significant among general practitioners (P < 0.05). The highest knowledge gap was associated with onset of autism and its comorbidities (KCAHW Domain 4) while the least was concerning communication impairments (KCAHW Domain 2). Major challenges encountered in autism management were dearth of specialist services, cost of evaluation, and poor caregiver perspectives of autism.
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2. Feinberg JI, Bakulski KM, Jaffe AE, Tryggvadottir R, Brown SC, Goldman LR, Croen LA, Hertz-Picciotto I, Newschaffer CJ, Daniele Fallin M, Feinberg AP. {{Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort}}. {Int J Epidemiol}. 2015.
BACKGROUND: Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical association of Prader-Willi syndrome, an imprinting disorder, with autistic features. OBJECTIVES: Here we tested for the relationship of paternal sperm DNA methylation with autism risk in offspring, examining an enriched-risk cohort of fathers of autistic children. METHODS: We examined genome-wide DNA methylation (DNAm) in paternal semen biosamples obtained from an autism spectrum disorder (ASD) enriched-risk pregnancy cohort, the Early Autism Risk Longitudinal Investigation (EARLI) cohort, to estimate associations between sperm DNAm and prospective ASD development, using a 12-month ASD symptoms assessment, the Autism Observation Scale for Infants (AOSI). We analysed methylation data from 44 sperm samples run on the CHARM 3.0 array, which contains over 4 million probes (over 7 million CpG sites), including 30 samples also run on the Illumina Infinium HumanMethylation450 (450K) BeadChip platform ( approximately 485 000 CpG sites). We also examined associated regions in an independent sample of post-mortem human brain ASD and control samples for which Illumina 450K DNA methylation data were available. RESULTS: Using region-based statistical approaches, we identified 193 differentially methylated regions (DMRs) in paternal sperm with a family-wise empirical P-value [family-wise error rate (FWER)] <0.05 associated with performance on the Autism Observational Scale for Infants (AOSI) at 12 months of age in offspring. The DMRs clustered near genes involved in developmental processes, including many genes in the SNORD family, within the Prader-Willi syndrome gene cluster. These results were consistent among the 75 probes on the Illumina 450K array that cover AOSI-associated DMRs from CHARM. Further, 18 of 75 (24%) 450K array probes showed consistent differences in the cerebellums of autistic individuals compared with controls. CONCLUSIONS: These data suggest that epigenetic differences in paternal sperm may contribute to autism risk in offspring, and provide evidence that directionally consistent, potentially related epigenetic mechanisms may be operating in the cerebellum of individuals with autism.
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3. Fenlon LR, Liu S, Gobius I, Kurniawan ND, Murphy S, Moldrich RX, Richards LJ. {{Formation of functional areas in the cerebral cortex is disrupted in a mouse model of autism spectrum disorder}}. {Neural Dev}. 2015; 10(1): 10.
BACKGROUND: Autism spectrum disorders (ASD) are a group of poorly understood behavioural disorders, which have increased in prevalence in the past two decades. Animal models offer the opportunity to understand the biological basis of these disorders. Studies comparing different mouse strains have identified the inbred BTBR T + tf/J (BTBR) strain as a mouse model of ASD based on its anti-social and repetitive behaviours. Adult BTBR mice have complete agenesis of the corpus callosum, reduced cortical thickness and changes in early neurogenesis. However, little is known about the development or ultimate organisation of cortical areas devoted to specific sensory and motor functions in these mice that may also contribute to their behavioural phenotype. RESULTS: In this study, we performed diffusion tensor imaging and tractography, together with histological analyses to investigate the emergence of functional areas in the cerebral cortex and their connections in BTBR mice and age-matched C57Bl/6 control mice. We found evidence that neither the anterior commissure nor the hippocampal commissure compensate for the loss of callosal connections, indicating that no interhemispheric neocortical connectivity is present in BTBR mice. We also found that both the primary visual and somatosensory cortical areas are shifted medially in BTBR mice compared to controls and that cortical thickness is differentially altered in BTBR mice between cortical areas and throughout development. CONCLUSIONS: We demonstrate that interhemispheric connectivity and cortical area formation are altered in an age- and region-specific manner in BTBR mice, which may contribute to the behavioural deficits previously observed in this strain. Some of these developmental patterns of change are also present in human ASD patients, and elucidating the aetiology driving cortical changes in BTBR mice may therefore help to increase our understanding of this disorder.
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4. Gordon C, Koerner MM, Foy A, Ali A, Zeriouh M, Liszka E, El-Banayosy A, Brehm C, Ghodsizad A. {{Insertion of the Avalon Cannula for Venovenous Extracorporeal Membrane Oxygenation in a Patient with an Implanted ASD Occlusion Device}}. {Heart Surg Forum}. 2015; 18(1): E031-2.
Use of the Avalon Elite bicaval dual lumen catheter (Maquet Cardiopulmonary AG, Rastatt, Germany) can be effective in patients requiring venovenous extracorporeal membrane oxygenation (VV-ECMO) for adult respiratory distress syndrome (ARDS). Proper placement of the cannula is important in providing adequate therapy and avoiding life-threatening complications. We report a case of successful cannulation in a patient with an implanted atrial septal defect (ASD) occlusion device who developed severe refractory ARDS.
5. Katz E, Girolametto L. {{Peer-mediated intervention for pre-schoolers with ASD: Effects on responses and initiations}}. {Int J Speech Lang Pathol}. 2015: 1-12.
PURPOSE: This study investigates the effects of peer-mediated intervention on the responses and initiations of pre-schoolers (aged 4;2-5;1) with Autism Spectrum Disorder (ASD). METHOD: A speech-language pathologist and three early childhood educators trained typically-developing peers to facilitate responses and initiations from three pre-schoolers with ASD during playtime. A multiple baseline design across subjects was used to determine the effects of the intervention. Play sessions between the children with ASD and their typically-developing peers were videotaped. Videotapes were analysed using an interval coding system in order to collect information regarding responses and initiations. RESULT: All three target children demonstrated improvements in their responses and initiations to their peers during intervention. Moreover, they maintained these gains 4 weeks later and generalized their response and initiation skills to an untrained peer. Social validity data, obtained using unbiased, independent, lay, observers to rate the children’s performance provided external validation of an observable treatment effect (i.e. increased responses and initiations) following intervention. CONCLUSION: The results suggest that training typically-developing peers to implement intervention strategies using the collaboration between a speech-language pathologist and early childhood educators may be an effective model of service delivery to enhance peer interaction skills of pre-schoolers with ASD.
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6. Lokanga RA, Senejani AG, Sweasy JB, Usdin K. {{Heterozygosity for a Hypomorphic Polbeta Mutation Reduces the Expansion Frequency in a Mouse Model of the Fragile X-Related Disorders}}. {PLoS Genet}. 2015; 11(4): e1005181.
The Fragile X-related disorders (FXDs) are members of the Repeat Expansion Diseases, a group of human genetic conditions resulting from expansion of a specific tandem repeat. The FXDs result from expansion of a CGG/CCG repeat tract in the 5′ UTR of the FMR1 gene. While expansion in a FXD mouse model is known to require some mismatch repair (MMR) proteins, our previous work and work in mouse models of another Repeat Expansion Disease show that early events in the base excision repair (BER) pathway play a role in the expansion process. One model for repeat expansion proposes that a non-canonical MMR process makes use of the nicks generated early in BER to load the MMR machinery that then generates expansions. However, we show here that heterozygosity for a Y265C mutation in Polbeta, a key polymerase in the BER pathway, is enough to significantly reduce both the number of expansions seen in paternal gametes and the extent of somatic expansion in some tissues of the FXD mouse. These data suggest that events in the BER pathway downstream of the generation of nicks are also important for repeat expansion. Somewhat surprisingly, while the number of expansions is smaller, the average size of the residual expansions is larger than that seen in WT animals. This may have interesting implications for the mechanism by which BER generates expansions.
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7. Robinson S, Weiss JA, Lunsky Y, Ouellette-Kuntz H. {{Informal Support and Burden among Parents of Adults with Intellectual and/or Developmental Disabilities}}. {J Appl Res Intellect Disabil}. 2015.
BACKGROUND: Parents often play a lifelong role in supporting their sons and daughters with intellectual and/or developmental disabilities (IDD). There is a need to better understand parent resources, particularly when the individual with IDD has behaviour problems, as the latter has consistently been linked to parental burden. METHODS: The current study aimed to investigate the relationship between the behaviour support needs of 212 adults with IDD and parental burden, and whether perceived helpfulness of informal supports moderated this relationship. The helpfulness of individual sources of informal support was also explored. RESULTS: Informal support was negatively related to burden, although it did not act as a moderator. Individual sources varied in terms of how they were related to burden, but none acted as moderators. CONCLUSIONS: Although informal social support appears to be important to parents and may help alleviate burden, it does not appear to act as a moderator as anticipated.
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8. Silva LM, Schalock M, Gabrielsen KR, Budden SS, Buenrostro M, Horton G. {{Early Intervention with a Parent-Delivered Massage Protocol Directed at Tactile Abnormalities Decreases Severity of Autism and Improves Child-to-Parent Interactions: A Replication Study}}. {Autism Res Treat}. 2015; 2015: 904585.
Tactile abnormalities are severe and universal in preschool children with autism. They respond well to treatment with a daily massage protocol directed at tactile abnormalities (QST massage for autism). Treatment is based on a model for autism proposing that tactile impairment poses a barrier to development. Two previous randomized controlled trials evaluating five months of massage treatment reported improvement of behavior, social/communication skills, and tactile and other sensory symptoms. This is the first report from a two-year replication study evaluating the protocol in 103 preschool children with autism. Parents gave daily treatment; trained staff gave weekly treatment and parent support. Five-month outcomes replicated earlier studies and showed normalization of receptive language (18%, P = .03), autistic behavior (32%, P = .006), total sensory abnormalities (38%, P = .0000005), tactile abnormalities (49%, P = .0002), and decreased autism severity (medium to large effect size, P = .008). In addition, parents reported improved child-to-parent interactions, bonding, and decreased parenting stress (44%, P = .00008). Early childhood special education programs are tasked with addressing sensory abnormalities and engaging parents in effective home programs. Until now, they have lacked research-based methods to do so. This program fulfills the need. It is recommended to parents and ECSE programs (ages 3-5) at autism diagnosis.
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9. Thomson K, Burnham Riosa P, Weiss JA. {{Brief Report of Preliminary Outcomes of an Emotion Regulation Intervention for Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2015.
Children with autism spectrum disorder (ASD) often present with comorbid psychopathology including problems with emotion regulation. The goal of the present research was to investigate the feasibility of a multicomponent manualized cognitive behavior therapy treatment program for improving emotion regulation in youth with ASD 8-12 years of age. Thirteen males and their parents participated in the intervention, reporting high satisfaction with the activities and program overall, and attending all sessions. Preliminary outcomes regarding emotion regulation and psychopathology, and feasibility of the intervention, are summarized and discussed.
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10. Vela G, Stark P, Socha M, Sauer AK, Hagmeyer S, Grabrucker AM. {{Zinc in Gut-Brain Interaction in Autism and Neurological Disorders}}. {Neural Plast}. 2015; 2015: 972791.
A growing amount of research indicates that abnormalities in the gastrointestinal (GI) system during development might be a common factor in multiple neurological disorders and might be responsible for some of the shared comorbidities seen among these diseases. For example, many patients with Autism Spectrum Disorder (ASD) have symptoms associated with GI disorders. Maternal zinc status may be an important factor given the multifaceted effect of zinc on gut development and morphology in the offspring. Zinc status influences and is influenced by multiple factors and an interdependence of prenatal and early life stress, immune system abnormalities, impaired GI functions, and zinc deficiency can be hypothesized. In line with this, systemic inflammatory events and prenatal stress have been reported to increase the risk for ASD. Thus, here, we will review the current literature on the role of zinc in gut formation, a possible link between gut and brain development in ASD and other neurological disorders with shared comorbidities, and tie in possible effects on the immune system. Based on these data, we present a novel model outlining how alterations in the maternal zinc status might pathologically impact the offspring leading to impairments in brain functions later in life.
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11. Zapf AC, Glindemann LA, Vogeley K, Falter CM. {{Sex Differences in Mental Rotation and How They Add to the Understanding of Autism}}. {PLoS One}. 2015; 10(4): e0124628.
The most consistent cognitive sex differences have been found in the visuo-spatial domain, using Mental Rotation (MR) tasks. Such sex differences have been suggested to bear implications on our understanding of autism spectrum disorders (ASD). However, it is still debated how the sex difference in MR performance relates to differences between individuals with ASD compared to typically developed control persons (TD). To provide a detailed exploration of sex differences in MR performance, we studied rotational (indicated by slopes) and non-rotational aspects (indicated by intercepts) of the MR task in TD individuals (total N = 50). Second-to-fourth digit length ratios (2D:4D) were measured to investigate the associations between prenatal testosterone and performance on MR tasks. Handedness was assessed by the use of the Edinburgh Handedness Inventory in order to examine the relation between handedness and MR performance. In addition, we investigated the relation of spatial to systemising abilities, both of which have been associated with sex differences and with ASD, employing the Intuitive Physics Test (IPT). Results showed a male advantage in rotational aspects of the MR task, which correlated with IPT results. These findings are in contrast to the MR performance of individuals with ASD who have been shown to outperform TD persons in the non-rotational aspects of the MR task. These results suggest that the differences in MR performance due to ASD are different from sex-related differences in TD persons, in other words, ASD is not a simple and continuous extension of the male cognitive profile into the psychopathological range as the extreme male brain hypothesis (EMB) of ASD would suggest.
