1. Davidson C, Greenwood N, Stansfield A, Wright S. {{Prevalence of Asperger syndrome among patients of an Early Intervention in Psychosis team}}. {Early Interv Psychiatry};2013 (Mar 8)
BACKGROUND: There is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis. AIM: To determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service. METHODS: This study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. All patients on caseload (n = 197) were screened using the Autism Spectrum Disorder in Adults Screening Questionnaire. The case notes of patients screened positive were then reviewed for information relevant to Asperger syndrome. Those suspected of having Asperger syndrome were invited for a diagnostic interview. RESULTS: Thirty patients were screened positive. Three of them already had a diagnosis of Asperger syndrome made by child and adolescent mental health services. After case note review, 13 patients were invited to interview. Four did not take part, so nine were interviewed. At interview, four were diagnosed with Asperger syndrome. In total, seven patients had Asperger syndrome. Thus, the prevalence rate in this population is at least 3.6%. CONCLUSIONS: The results suggest that the prevalence of Asperger syndrome in first-episode psychosis is considerably higher than that in the general population. Clinicians working in early intervention teams need to be alert to the possibility of Asperger syndrome when assessing patients.
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2. Dykens EM, Lambert W. {{Trajectories of Diurnal Cortisol in Mothers of Children with Autism and Other Developmental Disabilities: Relations to Health and Mental Health}}. {J Autism Dev Disord};2013 (Mar 7)
This study used a stress biomarker, diurnal cortisol, to identify how elevated stress in mothers of children and adults with autism and other disabilities relates to their health and mental health. Based on semi-parametric, group-based trajectory analysis of 91 mothers, two distinctive cortisol trajectories emerged: blunted (63 %) or steep (37 %). Mothers in the blunted (vs. steep) trajectory had higher stress levels, lower health ratings, and 89 % of mothers of children with autism, and 53 % with other disabilities, belonged to this trajectory. Atypical cortisol awakening responses and evening rises were differentially associated with anxiety, depression, health problems and employment status. Stress-reducing interventions are needed for parents of children with autism and other disabilities that include biomarkers as indices of risk or treatment outcome.
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3. Flashner BM, Russo ME, Boileau JE, Leong DW, Gallicano GI. {{Epigenetic Factors and Autism Spectrum Disorders}}. {Neuromolecular Med};2013 (Mar 7)
Autism is a complex neurodevelopmental disorder that has significant phenotypic overlap with several diseases, many of which fall within the broader category of autism spectrum disorders (ASDs). The etiology of the disorder is unclear and seems to involve a complex interplay of polygenic as well as environmental factors. We discuss evidence that suggests that epigenetic dysregulation is highly implicated as a contributing cause of ASDs and autism. Specifically, we examine neurodevelopmental disorders that share significant phenotypic overlap with ASDs and feature the dysregulation of epigenetically modified genes including UBE3A, GABA receptor genes, and RELN. We then look at the dysregulated expression of implicated epigenetic modifiers, namely MeCP2, that yield complex and varied downstream pleiotropic effects. Finally, we examine epigenetically mediated parent-of-origin effects through which paternal gene expression dominates that of maternal contributing to contrasting phenotypes implicated in ASDs. Such preliminary evidence suggests that elucidating the complex role of epigenetic regulations involved in ASDs could prove vital in furthering our understanding of the complex etiology of autism and ASDs.
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4. Gabriels RL, Agnew JA, Pan Z, Holt KD, Reynolds A, Laudenslager ML. {{Elevated Repetitive Behaviors are Associated with Lower Diurnal Salivary Cortisol Levels in Autism Spectrum Disorder}}. {Biol Psychol};2013 (Mar 1)
Previously, we reported a subgroup of children with autism spectrum disorders (ASD) had consistently high rates of repetitive behaviors (RBs) with abnormal sensory sensitivity. Given evidence of lower cortisol levels in response to stress and associated sensory sensitivity in the ASD population, this pilot study evaluates whether the presence of RBs reflects an underlying pathophysiology related to cortisol regulation. Diurnal salivary cortisol from 21 children with ASD and high versus low occurrence RBs were collected at four time points over three consecutive days. Although a typical decline in salivary cortisol was observed, participants in the high RB group showed 36% lower diurnal salivary cortisol than the low RB group. Age, IQ, RB type, and sleep quality were unrelated to observed differences. These findings suggest that RBs may serve to mitigate distress or that the glucocorticoid system has been down regulated in association with prolonged distress in this sample population.
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5. Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A. {{Revealing the complexity of a monogenic disease: rett syndrome exome sequencing}}. {PLoS One};2013;8(2):e56599.
Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene /X-inactivation status and phenotypic variability, we used this disease as a model to unveil the complex nature of a monogenic disorder. Whole exome sequencing was used to analyze the functional portion of the genome of two pairs of sisters with Rett syndrome. Although each pair of sisters had the same OMIM*300005) mutation and balanced X-inactivation, one individual from each pair could not speak or walk, and had a profound intellectual deficit (classical Rett syndrome), while the other individual could speak and walk, and had a moderate intellectual disability (Zappella variant). In addition to the mutation, each patient has a group of variants predicted to impair protein function. The classical Rett girls, but not their milder affected sisters, have an enrichment of variants in genes related to oxidative stress, muscle impairment and intellectual disability and/or autism. On the other hand, a subgroup of variants related to modulation of immune system, exclusive to the Zappella Rett patients are driving toward a milder phenotype. We demonstrate that genome analysis has the potential to identify genetic modifiers of Rett syndrome, providing insight into disease pathophysiology. Combinations of mutations that affect speaking, walking and intellectual capabilities may represent targets for new therapeutic approaches. Most importantly, we demonstrated that monogenic diseases may be more complex than previously thought.
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6. Hogan-Brown AL, Losh M, Martin GE, Mueffelmann DJ. {{An investigation of narrative ability in boys with autism and fragile x syndrome}}. {Am J Intellect Dev Disabil};2013 (Mar);118(2):77-94.
Abstract Whereas pragmatic language difficulties are characteristic of both autism and Fragile X syndrome, it is unclear whether such deficits are qualitatively similar or whether certain skills are differentially affected. This study compared narrative competence in boys with autism, Fragile X syndrome, Down syndrome, and typical development. Results revealed that an interaction between diagnosis and nonverbal mental age predicted narrative microstructure (e.g., complex syntax) but not macrostructure (e.g., thematic maintenance). Correlations with FMR1-related variation were investigated in children with Fragile X syndrome. While CGG repeat length was associated with many language characteristics, nonverbal IQ appeared to mediate these relationships. These findings are an important step toward understanding narrative abilities in boys with and without the FMR1 mutation.
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7. Liu Y, Du Y, Liu W, Yang C, Wang H, Gong X. {{Lack of Association between NLGN3, NLGN4, SHANK2 and SHANK3 Gene Variants and Autism Spectrum Disorder in a Chinese Population}}. {PLoS One};2013;8(2):e56639.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication, absence or delay in language development, and stereotyped or repetitive behaviors. Genetic studies show that neurexin-neuroligin (NRXN-NLGN) pathway genes contribute susceptibility to ASD, which include cell adhesion molecules , and scaffolding proteins and . Neuroligin proteins play an important role in synaptic function and trans-synaptic signaling by interacting with presynaptic neurexins. Shank proteins are scaffolding molecules of excitatory synapses, which function as central organizers of the postsynaptic density. Sequence level mutations and structural variations in these genes have been identified in ASD cases, while few studies were performed in Chinese population. In this study, we examined the copy numbers of four genes and in 285 ASD cases using multiplex fluorescence competitive polymerase chain reaction (PCR). We also screened the regulatory region including the promoter region and 5’/3′ untranslated regions (UTR) and the entire coding region of in a cohort of 285 ASD patients and 384 controls by direct sequencing of genomic DNA using the Sanger method. DNA copy number calculation in four genes showed no deletion or duplication in our cases. No missense mutations in were identified in our cohort. Association analysis of 6 common SNPs in did not find significant difference between ASD cases and controls. These findings showed that these genes may not be major disease genes in Chinese ASD cases.
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8. Maring JR, Costello E, Birkmeier MC, Richards M, Alexander LM. {{Validating functional measures of physical ability for aging people with intellectual developmental disability}}. {Am J Intellect Dev Disabil};2013 (Mar);118(2):124-140.
Abstract Unlike the aging population without intellectual and developmental disabilities (IDD), few standardized performance measures exist to assess physical function and risk for adverse outcomes such as nonfatal, unintentional injuries. We modified 3 selected standardized performance tools in the areas of general fitness (2-Minute Walk Test), balance and gait (Performance-Oriented Mobility Assessment I), and functional independence (Modified Barthel Index) for administration with people with IDD. The modified tools were piloted with 30 participants. Results indicated the measures are strongly associated and successfully distinguished between participants with an adverse health event in the previous year. The modified tools have potential to provide clinicians with quantitative measures that track physical performance changes associated with aging in people with IDD.
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9. O’Haire ME, McKenzie SJ, Beck AM, Slaughter V. {{Social behaviors increase in children with autism in the presence of animals compared to toys}}. {PLoS One};2013;8(2):e57010.
BACKGROUND: Previous research has demonstrated the capacity of animal presence to stimulate social interaction among humans. The purpose of this study was to examine the interactions of children with autism spectrum disorder (ASD) with an adult and their typically-developing peers in the presence of animals (two guinea pigs) compared to toys. METHODS: Ninety-nine children from 15 classrooms in 4 schools met the inclusion criteria and participated in groups of three (1 child with ASD and 2 typically-developing peers). Each group was video-recorded during three 10-minute, free-play sessions with toys and three 10-minute, free-play sessions with two guinea pigs. Two blinded observers coded the behavior of children with ASD and their peers. To account for the nested study design, data were analyzed using hierarchical generalized linear modeling. RESULTS: Participants with ASD demonstrated more social approach behaviors (including talking, looking at faces, and making tactile contact) and received more social approaches from their peers in the presence of animals compared to toys. They also displayed more prosocial behaviors and positive affect (i.e., smiling and laughing) as well as less self-focused behaviors and negative affect (i.e., frowning, crying, and whining) in the presence of animals compared to toys. CONCLUSIONS: These results suggest that the presence of an animal can significantly increase positive social behaviors among children with ASD.
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10. Poon KK. {{Parental expectations regarding postschool social attainments of adolescents with autism spectrum disorders in singapore}}. {Am J Intellect Dev Disabil};2013 (Mar);118(2):95-107.
Abstract This study sought to understand the parental expectations of social attainments in the postschool years. The parents of 20 adolescents with autism spectrum disorders (ASD) attending special schools were interviewed. Most expected their children would be working in sheltered workshops or unemployed. All parents indicated that their children would live with them until they were unable to provide appropriate care, and nearly half expressed wishes for relatives to care for them thereafter. None expected any independent access to the community. Analysis of the interviews suggested that the adolescents’ learning and behavior, parental concerns, availability of formal resources, and societal factors influenced parents’ expectations. Implications for working with Asian populations and for service delivery in Singapore are discussed.
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11. Vida MD, Maurer D, Calder AJ, Rhodes G, Walsh JA, Pachai MV, Rutherford MD. {{The Influences of Face Inversion and Facial Expression on Sensitivity to Eye Contact in High-Functioning Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Mar 8)
We examined the influences of face inversion and facial expression on sensitivity to eye contact in high-functioning adults with and without an autism spectrum disorder (ASD). Participants judged the direction of gaze of angry, fearful, and neutral faces. In the typical group only, the range of directions of gaze leading to the perception of eye contact (the cone of gaze) was narrower for upright than inverted faces. In both groups, the cone of gaze was wider for angry faces than for fearful or neutral faces. These results suggest that in high-functioning adults with ASD, the perception of eye contact is not tuned to be finer for upright than inverted faces, but that information is nevertheless integrated across expression and gaze direction.
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12. Werling DM, Geschwind DH. {{Understanding sex bias in autism spectrum disorder}}. {Proc Natl Acad Sci U S A};2013 (Mar 8)
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13. Zuo L, Wang K, Zhang XY, Pan X, Wang G, Tan Y, Zhong C, Krystal JH, State M, Zhang H, Luo X. {{Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism}}. {Hum Genet};2013 (Mar 7)
Humans express at least seven alcohol dehydrogenase (ADH) isoforms that are encoded by ADH gene cluster (ADH7-ADH1C-ADH1B-ADH1A-ADH6-ADH4-ADH5) at chromosome 4. ADHs are key catabolic enzymes for retinol and ethanol. The functional ADH variants (mostly rare) have been implicated in alcoholism risk. In addition to catalyzing the oxidation of retinol and ethanol, ADHs may be involved in the metabolic pathways of several neurotransmitters that are implicated in the neurobiology of neuropsychiatric disorders. In the present study, we comprehensively examined the associations between common ADH variants [minor allele frequency (MAF) >0.05] and 11 neuropsychiatric and neurological disorders. A total of 50,063 subjects in 25 independent cohorts were analyzed. The entire ADH gene cluster was imputed across these 25 cohorts using the same reference panels. Association analyses were conducted, adjusting for multiple comparisons. We found 28 and 15 single nucleotide polymorphisms (SNPs), respectively, that were significantly associated with schizophrenia in African-Americans and autism in European-Americans after correction by false discovery rate (FDR) (q < 0.05); and 19 and 6 SNPs, respectively, that were significantly associated with these two disorders after region-wide correction by SNPSpD (8.9 x 10-5 </= p </= 0.0003 and 2.4 x 10-5 </= p </= 0.0003, respectively). No variants were significantly associated with the other nine neuropsychiatric disorders, including alcohol dependence. We concluded that common ADH variants conferred risk for both schizophrenia in African-Americans and autism in European-Americans.
