1. Ausderau KK, Sideris J, Little LM, Furlong M, Bulluck JC, Baranek GT. {{Sensory subtypes and associated outcomes in children with autism spectrum disorders}}. {Autism Res}. 2016.
Sensory features are prevalent and heterogeneous across children with ASD and these features have been associated with child outcomes. Identification of clinically defined sensory subtypes may enhance our understanding of unique phenotypes that have implications for etiology, prognosis, and intervention. This longitudinal study used a national online survey aimed to identify associations of previously validated sensory subtypes to specific child and family characteristics and functional outcomes [vineland adaptive behavior scale-II (VABS) and parenting stress index short form (PSI)]. The sensory experiences questionnaire-3.0 was collected from caregivers with children with ASD, ages 2-12, at two time points (Time 1, n = 1307, Time 2, n = 884), 1 year apart. Functional outcomes assessments were collected at the second time point. A latent profile transition analysis (LPTA) was used to test associations, and results indicated that the attenuated-preoccupied subtype presented with the significantly lowest levels of VABS adaptive behavior composite scores compared to the other three sensory subtypes. Both the VABS maladaptive behavior index and the total PSI score were significantly highest in the extreme-mixed subtype. These results underscore the clinical utility of this subtyping approach for differentiating characteristics and functional outcomes associated with clinically defined sensory phenotypes. These findings may have implications for better understanding etiology, prognosis, and more precise targets for interventions designed to ameliorate sensory difficulties, and ultimately mitigate negative developmental consequences and parenting stress. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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2. Bohnert A, Lieb R, Arola N. {{More than Leisure: Organized Activity Participation and Socio-Emotional Adjustment Among Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2016.
Adolescents with high-functioning Autism Spectrum Disorder (HFASD) experience difficulties with socio-emotional adjustment, including compromised friendships, feelings of loneliness, and depression. Using a sample of 127 adolescents with HFASD and their parents, this study is first to examine: (1) relations between organized activity (OA) involvement and adjustment and (2) whether these relations were moderated by social impairment and executive functions. Results indicated that greater intensity, breadth, and academic OA involvement were associated with fewer depressive symptoms. OA intensity was also associated with less loneliness. For adolescents with better emotional control, greater intensity was associated with better friendship quality. Results suggest that for adolescents with HFASD, more involvement in OA is associated with better socio-emotional adjustment even after accounting for risk factors.
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3. Das J, Meyer MJ, Yu H. {{Studying Autism in Context}}. {Cell Syst}. 2015; 1(5): 312-3.
Studying autism genes in the context of the protein complexes to which they belong illustrates the potential of network-centric approaches for understanding complex genetic disease.
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4. Feinberg E, Abufhele M, Sandler J, Augustyn M, Cabral H, Chen N, Diaz Linhart Y, Cesar Levesque Z, Aebi M, Silverstein M. {{Reducing Disparities in Timely Autism Diagnosis Through Family Navigation: Results From a Randomized Pilot Trial}}. {Psychiatr Serv}. 2016: appips201500162.
OBJECTIVE: Emerging evidence suggests that autism spectrum disorder (ASD) can be diagnosed by age 18 months and that early intensive behavioral intervention positively affects ASD core deficits. This pilot randomized controlled trial examined the feasibility of using an adapted form of patient navigation, Family Navigation (FN), to improve timely diagnosis of ASD in low-income families from racial-ethnic minority groups. METHODS: Forty children referred for an ASD diagnostic assessment were randomly allocated to receive FN or usual care. The primary outcome, time to diagnostic resolution, was assessed with survival analysis. RESULTS: Nineteen of 20 FN children completed the diagnostic assessment, compared with 11 of 19 children receiving usual care (hazard ratio=3.21, 95% confidence interval=1.47-6.98, p<.01). In regard to engagement of participants, 17 of 20 families (85%) met with the navigator for the targeted three in-person visits (median=4, range 1-9). CONCLUSIONS: FN may be a promising intervention to address barriers that impede timely ASD diagnosis. Lien vers le texte intégral (Open Access ou abonnement)
5. Hennel S, Coates C, Symeonides C, Gulenc A, Smith L, Price AM, Hiscock H. {{Diagnosing autism: Contemporaneous surveys of parent needs and paediatric practice}}. {J Paediatr Child Health}. 2016.
AIM: Concurrence between parents’ information needs and clinicians’ practice when diagnosing autism is unknown but may influence families’ uptake of management and adjustment. We aimed to compare parents’ experience and preferences with paediatrician report of (i) diagnosis delivery and (ii) information given at diagnosis and identify types and usefulness of resources accessed by families post-diagnosis. METHODS: The design used for the study are parent and paediatrician surveys. Participants are parents of children aged 1.5-18 years, diagnosed with autism between 01 January 2010 and 30 September 2012 and their paediatricians who are members of the Australian Paediatric Research Network. Study-designed quantitative and qualitative questions about diagnosis delivery and information given at diagnosis (written and spoken vs. neither) and parent perceived importance and harms of information accessed post-diagnosis. RESULTS: Paediatricians (53/198 (27%)) identified 1127 eligible families, of whom 404 (36%) participated. Parents were more likely to report receiving adequate time to discuss diagnosis than paediatricians (71 vs. 51%). Parents (98%) rated information about accessing allied health professionals and the meaning of diagnosis as most important, yet paediatricians offered written or spoken information about each infrequently (allied health: 22%; diagnosis: 42%). Post-diagnosis, allied health was the most important source of information (83%). Harmful resources conveyed helplessness or non-evidenced-based therapies, but few parents (14%) reported this. CONCLUSIONS: Parents want more information than can be conveyed in a single diagnostic consultation. Developing a tailored ‘autism action plan’ with written materials could improve parents’ understanding of and satisfaction with children’s autism diagnoses.
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6. Henry V, Baghdadli A. {{[How sociocultural aspects influence health and mental health care: A case study on a young gypsy girl with autism]}}. {Arch Pediatr}. 2016.
INTRODUCTION: In some cases, cultural and social aspects are important determinants in health care access. Some authors have found that bilingualism and loss of cultural markers due to immigration or misunderstanding of the institutions of another country result in patients losing the opportunity to receive good care. In this article, we analyze these cultural aspects through the description of an 11-year-old gypsy girl who had autism spectrum disorder (ASD) with mild intellectual disability. CASE REPORT: An 11-year-old girl lived with her mother, grandmother, and two brothers. She had ASD with mild intellectual disability. The diagnostic procedure was hard to initiate and contact with her mother had been lost twice. Then the mother received help from a psychologist, who played a key role in facilitating the healthcare procedures. During the follow-up, it appeared that each healthcare decision made for the patient (on treatment, type of care) led to a meeting of at least 20 members of the family, who discussed and debated the best decision to make. DISCUSSION: Taking into account gypsy cultural habits, the psychiatrist’s intervention facilitated the initiation and follow-up of care for this patient. Her mother, assisted by the psychologist, better understood institutional procedures and could also change some of her habits to optimize care. Some other members of the family were included in the care procedure, because we understood that it was very important for the mother and to improve alliance and ongoing care. CONCLUSION: Taking into account cultural and social aspects is highly important for the management of care and the therapeutic alliance, especially in child and adolescent psychiatry.
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7. Hulbert SW, Jiang YH. {{Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links}}. {Neuroscience}. 2016; 321: 3-23.
Autism spectrum disorders (ASDs) present unique challenges in the fields of genetics and neurobiology because of the clinical and molecular heterogeneity underlying these disorders. Genetic mutations found in ASD patients provide opportunities to dissect the molecular and circuit mechanisms underlying autistic behaviors using animal models. Ongoing studies of genetically modified models have offered critical insight into possible common mechanisms arising from different mutations, but links between molecular abnormalities and behavioral phenotypes remain elusive. The challenges encountered in modeling autism in mice demand a new analytic paradigm that integrates behavioral assessment with circuit-level analysis in genetically modified models with strong construct validity.
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8. Ijalba E. {{Hispanic Immigrant Mothers of Young Children With Autism Spectrum Disorders: How Do They Understand and Cope With Autism?}}. {Am J Speech Lang Pathol}. 2016: 1-14.
Purpose: This study aimed to understand the experiences of raising a child with autism spectrum disorders (ASD) in a group of Hispanic immigrant mothers. The following 3 aspects were explored: (a) the families’ social environments, (b) cultural beliefs on development and autism, and (c) perceptions of bilingualism influencing language choices. Method: In-depth 3-part phenomenological interviews and thematic analyses were conducted with 22 Hispanic immigrant mothers of preschool children with ASD. Results: A total of 3 thematic categories emerged: stigmatization and social isolation, preconceptions about developmental milestones and autism, and mothers’ reluctance to speak Spanish with their children. A lack of awareness about autism influenced social isolation, and autism was viewed as temporary and associated with fear or sadness. The mothers believed that exposure to 2 languages would increase their children’s language difficulties. Conclusions: Hispanic immigrant mothers raising children with autism were often challenged by immigration status, economic hardship, and advice against using Spanish with their children. Professional training and parent education are needed to facilitate early identification of ASD. Immigrant families should be encouraged to communicate in the home language with their children. Information about ASD should be disseminated through community outreach, home-school connections, and pediatricians, who remain pivotal in informing Hispanic immigrant families.
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9. Kim KC, Gonzales EL, Lazaro MT, Choi CS, Bahn GH, Yoo HJ, Shin CY. {{Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders}}. {Biomol Ther (Seoul)}. 2016; 24(3): 207-43.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments, as well as repetitive and restrictive behaviors. The phenotypic heterogeneity of ASD has made it overwhelmingly difficult to determine the exact etiology and pathophysiology underlying the core symptoms, which are often accompanied by comorbidities such as hyperactivity, seizures, and sensorimotor abnormalities. To our benefit, the advent of animal models has allowed us to assess and test diverse risk factors of ASD, both genetic and environmental, and measure their contribution to the manifestation of autistic symptoms. At a broader scale, rodent models have helped consolidate molecular pathways and unify the neurophysiological mechanisms underlying each one of the various etiologies. This approach will potentially enable the stratification of ASD into clinical, molecular, and neurophenotypic subgroups, further proving their translational utility. It is henceforth paramount to establish a common ground of mechanistic theories from complementing results in preclinical research. In this review, we cluster the ASD animal models into lesion and genetic models and further classify them based on the corresponding environmental, epigenetic and genetic factors. Finally, we summarize the symptoms and neuropathological highlights for each model and make critical comparisons that elucidate their clinical and neurobiological relevance.
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10. Lintas C, Sacco R, Persico AM. {{Differential methylation at the RELN gene promoter in temporal cortex from autistic and typically developing post-puberal subjects}}. {J Neurodev Disord}. 2016; 8: 18.
BACKGROUND: Reelin plays a pivotal role in neurodevelopment and in post-natal synaptic plasticity and has been implicated in the pathogenesis of autism spectrum disorder (ASD). The reelin (RELN) gene expression is significantly decreased in ASD, both in the brain and peripherally. Methylation at the RELN gene promoter is largely triggered at puberty, and hypermethylation has been found in post-mortem brains of schizophrenic and bipolar patients. METHODS: In this study, we assessed RELN gene methylation status in post-mortem temporocortical tissue samples (BA41/42 or 22) of six pairs of post-puberal individuals with ASD and typically developing subjects, matched for sex (male:female, M:F = 5:1), age, and post-mortem interval. RESULTS: ASD patients display a significantly higher number of methylated CpG islands and heavier methylation in the 5′ region of the RELN gene promoter, spanning from -458 to -223 bp, whereas controls have more methylated CpG positions and greater extent of methylation at the 3′ promoter region, spanning from -222 to +1 bp. The most upstream promoter region (-458 to -364 bp) is methylated only in ASD brains, while the most downstream region (-131 to +1 bp) is methylated exclusively in control brains. Within this general framework, three different methylation patterns are discernible, each correlated with different extents of reduction in reelin gene expression among ASD individuals compared to controls. CONCLUSIONS: The methylation pattern is different in ASD and control post-mortem brains. ASD-specific CpG positions, located in the most upstream gene promoter region, may exert a functional role potentially conferring ASD risk by blunting RELN gene expression.
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11. Muller CL, Anacker AM, Veenstra-VanderWeele J. {{The serotonin system in autism spectrum disorder: From biomarker to animal models}}. {Neuroscience}. 2016; 321: 24-41.
Elevated whole blood serotonin, or hyperserotonemia, was the first biomarker identified in autism spectrum disorder (ASD) and is present in more than 25% of affected children. The serotonin system is a logical candidate for involvement in ASD due to its pleiotropic role across multiple brain systems both dynamically and across development. Tantalizing clues connect this peripheral biomarker with changes in brain and behavior in ASD, but the contribution of the serotonin system to ASD pathophysiology remains incompletely understood. Studies of whole blood serotonin levels in ASD and in a large founder population indicate greater heritability than for the disorder itself and suggest an association with recurrence risk. Emerging data from both neuroimaging and postmortem samples also indicate changes in the brain serotonin system in ASD. Genetic linkage and association studies of both whole blood serotonin levels and of ASD risk point to the chromosomal region containing the serotonin transporter (SERT) gene in males but not in females. In ASD families with evidence of linkage to this region, multiple rare SERT amino acid variants lead to a convergent increase in serotonin uptake in cell models. A knock-in mouse model of one of these variants, SERT Gly56Ala, recapitulates the hyperserotonemia biomarker and shows increased brain serotonin clearance, increased serotonin receptor sensitivity, and altered social, communication, and repetitive behaviors. Data from other rodent models also suggest an important role for the serotonin system in social behavior, in cognitive flexibility, and in sensory development. Recent work indicates that reciprocal interactions between serotonin and other systems, such as oxytocin, may be particularly important for social behavior. Collectively, these data point to the serotonin system as a prime candidate for treatment development in a subgroup of children defined by a robust, heritable biomarker.
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12. Saad AF, Alshehri W, Lei J, Kechichian TB, Gamble P, Alhejaily N, Shabi Y, Saade GR, Costantine MM, Burd I. {{Maternal Fructose Consumption Disrupts Brain Development of Offspring in a Murine Model of Autism Spectrum Disorder}}. {Am J Perinatol}. 2016.
Objective The objective of this study was to localize by neuroimaging the altered structural brain development of these offspring using an autism model of transgenic mice lacking contactin-associated protein-like 2 (Cntnap2). Materials and Methods Pregnant dams were randomly allocated to fructose solution (10% W/V) as only drinking fluid or water. Cntnap2 heterozygous (+/-) offspring from each group were euthanized at 6 months of age and their whole brains evaluated by magnetic resonance imaging. T2-weighted images were acquired to evaluate the volumes of 29 regions of interest involved in autism spectrum disorder (ASD) pathogenesis. Whole brains were washed and processed for Nissl staining. Mann-Whitney U test and one-way analysis of variance were used for statistical analysis (significance: p < 0.05). Results The corpus callosum, anterior commissure, and caudate putamen were significantly smaller in Cntnap2 (+/-) male offspring exposed to fructose. No brain alterations were found in the female counterparts. Nissl staining of the caudate putamen revealed higher neuronal cell count in the male fructose offspring. Female group revealed an increase in caudate putamen neuronal cell count. Conclusion Metabolic dysregulation in pregnancy alters fetal brain development in genetically predisposed offspring. This is consistent with findings in human studies and supports the role of intrauterine factors in the etiology of autism. Lien vers le texte intégral (Open Access ou abonnement)
