1. Ahouee SM, Shooshtari MH, Bidaki R. {{A girl with increased writing and painting activities associated with Turner’s syndrome and autistic spectrum disorder}}. {Adv Biomed Res};2015;4:91.
This report describes the findings on the evaluation of a 9-year-old girl with disabling and pronounced increased writing and painting activities associated with Turner’s syndrome and autistic spectrum disorder. She spent most of the time doing these activities which affected not only her academic performance, but also social relationships. A comprehensive treatment plan consists of both biological and psychological aspects, is the main point of this case. Low dose of risperidone (0.5 mg/day) was started to decrease the patient’s stereotypic behaviors. Sertraline (12.5 mg/day) was prescribed for her phobia. She was also referred to an occupational therapist in order to improve her social skills.
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2. Andoh-Noda T, Akamatsu W, Miyake K, Matsumoto T, Yamaguchi R, Sanosaka T, Okada Y, Kobayashi T, Ohyama M, Nakashima K, Kurosawa H, Kubota T, Okano H. {{Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage}}. {Mol Brain};2015;8(1):31.
BACKGROUND: Rett syndrome (RTT) is one of the most prevalent neurodevelopmental disorders in females, caused by de novo mutations in the X-linked methyl CpG-binding protein 2 gene, MECP2. Although abnormal regulation of neuronal genes due to mutant MeCP2 is thought to induce autistic behavior and impaired development in RTT patients, precise cellular mechanisms underlying the aberrant neural progression remain unclear. RESULTS: Two sets of isogenic pairs of either wild-type or mutant MECP2-expressing human induced pluripotent stem cell (hiPSC) lines were generated from a single pair of 10-year-old RTT-monozygotic (MZ) female twins. Mutant MeCP2-expressing hiPSC lines did not express detectable MeCP2 protein during any stage of differentiation. The lack of MeCP2 reflected altered gene expression patterns in differentiated neural cells rather than in undifferentiated hiPSCs, as assessed by microarray analysis. Furthermore, MeCP2 deficiency in the neural cell lineage increased astrocyte-specific differentiation from multipotent neural stem cells. Additionally, chromatin immunoprecipitation (ChIP) and bisulfite sequencing assays indicated that anomalous glial fibrillary acidic protein gene (GFAP) expression in the MeCP2-negative, differentiated neural cells resulted from the absence of MeCP2 binding to the GFAP gene. CONCLUSIONS: An isogenic RTT-hiPSC model demonstrated that MeCP2 participates in the differentiation of neural cells. Moreover, MeCP2 deficiency triggers perturbation of astrocytic gene expression, yielding accelerated astrocyte formation from RTT-hiPSC-derived neural stem cells. These findings are likely to shed new light on astrocytic abnormalities in RTT, and suggest that astrocytes, which are required for neuronal homeostasis and function, might be a new target of RTT therapy.
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3. Cascio CJ, Gu C, Schauder KB, Key AP, Yoder P. {{Somatosensory Event-Related Potentials and Association with Tactile Behavioral Responsiveness Patterns in Children with ASD}}. {Brain Topogr};2015 (May 28)
The goal of this study was to explore neural response to touch in children with and without autism spectrum disorder (ASD). Patterns of reduced (hypo-responsiveness) and enhanced (hyper-responsiveness) behavioral reaction to sensory input are prevalent in ASD, but their neural mechanisms are poorly understood. We measured event-related potentials (ERP) to a puff of air on the fingertip and collected parent report of tactile hypo- and hyper-responsiveness in children with ASD (n = 21, mean (SD) age 11.25 (3.09), 2 female), and an age-matched typically developing comparison group (n = 28, mean (SD) age 10.1 (3.08, 2 female). A global measure of ERP response strength approximately 220-270 ms post-stimulus was associated with tactile hypo-responsiveness in ASD, while tactile hyper-responsiveness was associated with earlier neural response (approximately 120-220 ms post-stimulus) in both groups. These neural responses also related to autism severity. These results suggest that, in ASD, tactile hypo- and hyper-responsiveness may reflect different waypoints in the neural processing stream of sensory input. The timing of the relationship for hyper-responsiveness is consistent with somatosensory association cortical response, while that for hypo-responsiveness is more consistent with later processes that may involve allocation of attention or emotional valence to the stimulus.
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4. Faso DJ, Corretti CA, Ackerman RA, Sasson NJ. {{The broad autism phenotype predicts relationship outcomes in newly formed college roommates}}. {Autism};2015 (May 26)
Although previous studies have reported that the broad autism phenotype is associated with reduced relationship quality within established relationships, understanding how this association emerges requires assessment prior to relationship development. In the present longitudinal study, college roommates with minimal familiarity prior to cohabitation (N = 162) completed the broad autism phenotype questionnaire and intermittently reported on their relationship quality and interpersonal behaviors toward their roommate over their first 10 weeks of living together. Actor-Partner Interdependence Models demonstrated that roommates mismatched on aloofness (one high and one low) had lower relationship satisfaction than those matched on it, with the interpersonal behavior of warmth mediating this association. Because relationship satisfaction remained high when both roommates were aloof, satisfaction does not appear predicated upon the presence of aloofness generally but rather reflects a product of dissimilarity in aloof profiles between roommates. In contrast, although participants reported less relationship satisfaction and commitment with roommates higher on pragmatic language abnormalities, mismatches on this broad autism phenotype trait, and on rigid personality, were less consequential. In sum, these findings suggest that complementary profiles of social motivation may facilitate relationship quality during the early course of relationship development.
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5. Fischbach RL, Harris MJ, Ballan MS, Fischbach GD, Link BG. {{Is there concordance in attitudes and beliefs between parents and scientists about autism spectrum disorder?}}. {Autism};2015 (May 26)
There is no reported investigation comparing concordance in attitudes and beliefs about autism spectrum disorder between parents of children with autism spectrum disorder and scientists who research autism spectrum disorder. To investigate the level of concordance between these groups on causes of autism, priorities of research, perceived stigma, and disclosure of genetic test results, telephone interviews were conducted. Parents (n = 502) were recruited from the Simons Simplex Collection, and research scientists (n = 60) were recruited from investigators funded by the Simons Foundation. Response rates were notable (parents 91%, scientists 80%). Parents and scientists differed significantly regarding beliefs of the likely major cause of autism (p = 0.007) and priorities for further research (p < 0.001). Scientists believed in genetic causes while many parents believed in vaccines as the cause of autism. Parents (37%) were more likely to hesitate vaccinating their child (p < 0.001). In contrast, there was strong concordance regarding extent of perceived stigma (95% vs 92%) and preferences for disclosure of genetic test results, including incidental findings. While scientists believed communication important, paradoxically fewer than half reported it important for scientists to communicate directly with parents. Better communication between parents and scientists should improve mutual understanding and ultimately the health and well-being of children with autism spectrum disorder and their families.
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6. Gray JA, Abendroth M. {{Perspectives of US Direct Care Workers on the Grief Process of Persons with Intellectual and Developmental Disabilities: Implications for Practice}}. {J Appl Res Intellect Disabil};2015 (May 27)
BACKGROUND: The study explored the grief process of persons with intellectual and developmental disabilities (PWIDDs) as perceived by direct care workers (DCWs) and how such workers can guide and support PWIDDs experiencing grief. MATERIALS AND METHODS: A thematic analysis approach was used to examine data from nine focus groups with 60 DCWs from five community-based organizations. RESULTS: Findings were supported in the context of seminal grief and bereavement theories. Three themes (i.e. reactions to loss, processing the loss and incorporating the loss) and related subthemes emerged from the data. CONCLUSIONS: PWIDDs are susceptible to traumatic grief, and DCWs are often key witnesses to such experiences. DCWs’ perspectives can guide the development of grief and bereavement training which can lead to more tailored support systems.
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7. Mari-Bauset S, Llopis-Gonzalez A, Zazpe I, Mari-Sanchis A, Suarez-Varela MM. {{Fat intake in children with autism spectrum disorder in the Mediterranean region (Valencia, Spain)}}. {Nutr Neurosci};2015 (May 28)
Objective Children with autism spectrum disorder (ASD) have been found to have alterations in dietary fat intake and fat quality. The fat intakes of the foods consumed by children with and without ASD were compared, and the deficiency and excess of these nutrients were examined. Methods In a matched case-control study, 3-day food diaries were completed by 105 children with ASD and 495 typically developing (TD) 6- to 9-year-old children in Valencia (Spain). We used the probabilistic approach and estimated average requirement cut-point to evaluate the risk of inadequate nutrients intakes. These were compared between groups and with Spanish recommendations using linear and logistic regression, respectively. Results Groups did not differ significantly in age, total dietary intake, Healthy Eating Index, or food variety score. Children with ASD had lower saturated fatty acids (SFAs) and omega-3 polyunsaturated fatty acids (PUFAs) intakes, but their total PUFAs and (PUFAs + monounsaturated fatty acids (MUFAs)/SFAs, PUFAs/SFAs intakes and omega-6/omega-3 ratios were higher than TD children. The total fat and cholesterol intakes of both groups were slightly above Spanish recommendations. Both groups had low omega-6 intakes, very low omega-3 intakes, and high omega-6/omega-3 ratios. Conclusion Further research is required to clarify associations between ASD symptomatology, fat-eating patterns and health status.
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8. Meguid NA, Gebril OH, Khalil RO. {{A study of blood serotonin and serotonin transporter promoter variant (5-HTTLPR) polymorphism in Egyptian autistic children}}. {Adv Biomed Res};2015;4:94.
BACKGROUND: Autism spectrum disorder (ASD) is a complex, heterogeneous neurodevelopmental disorder with onset during early childhood. Most studies have reported an elevation in platelet serotonin in persons with autism. The serotonin (5-hydroxytryptamine; 5-HT) transporter in the brain uptakes 5-HT from extracellular spaces. It is also present in platelets, where it takes up 5-HT from plasma. Polymorphisms in serotonin transporter gene (SLC6A4) were frequently studied in many neuropsychiatric disorders. MATERIALS AND METHODS: We have measured the plasma 5-HT levels in 20 autistic male children and 20 control male children by the enzyme-linked immunosorbent assay (ELISA) method. In addition, the SLC6A4 promoter region (5-HTTLPR) insertion/deletion (I/D) polymorphism was studied, using whole genomic DNA. RESULTS: Plasma serotonin was significantly low in autistic children compared to control (P = 0.001), although correlation to severity of autism was not significant. The frequency of short (S) allele in autism cases was 10% and in the control group it was absent. CONCLUSION: Our study demonstrated an increased prevalence of 5-HTTLPR S allele in autism subjects. Significantly decreased plasma serotonin was detected in autism subjects, with no significant relationship between 5-HTTLPR genotype and plasma 5-HT being evident.
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9. Moss P, Howlin P, Savage S, Bolton P, Rutter M. {{Self and informant reports of mental health difficulties among adults with autism findings from a long-term follow-up study}}. {Autism};2015 (May 26)
Data on psychiatric problems in adults with autism are inconsistent, with estimated rates ranging from around 25% to over 75%. We assessed difficulties related to mental health in 58 adults with autism (10 females, 48 males; mean age 44 years) whom we have followed over four decades. All were of average non-verbal intelligence quotient when diagnosed as children. Overall ratings of mental health problems were based on data from the Family History Schedule (Bolton et al., 1994). Informant reports indicated that many of the cohort (44%) had experienced no mental health problems in adulthood; 28% had experienced mild to moderate difficulties, 23% had severe and 5% very severe problems. Depression was the most commonly reported problem. Among those adults (n = 22) able to report on their own mental state, again many (45%) reported no mental health problems, although 27% reported very severe mental health problems related to anxiety, depression and/or obsessive-compulsive symptoms. Informant ratings of poor mental health were not associated with gender, severity of autism in childhood, or child or adult intelligence quotient, but there were small correlations with overall social functioning (rho = 0.34) and current autism severity (rho = 0.37). The findings highlight the difficulties of assessing mental health problems in adults with autism and the need for appropriately validated measures.
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10. Salomone E, Charman T, McConachie H, Warreyn P. {{Child’s verbal ability and gender are associated with age at diagnosis in a sample of young children with ASD in Europe}}. {Child Care Health Dev};2015 (May 28)
BACKGROUND: Autism spectrum disorder can in some cases be reliably diagnosed by age 2 years, but in community settings, the mean age at diagnosis is often considerably higher. Later diagnosis has been found to be associated with lower symptom severity, lower parental socioeconomic status and fewer parental concerns. Gender differences in age at diagnosis have been examined, with mixed evidence. METHODS: We examined the association of child’s verbal ability and gender, and parental education, with age at diagnosis in a large sample of young children with autism spectrum disorder in 18 European countries (n = 1410). RESULTS: There was considerable variation in age at diagnosis across countries. Children with better communication skills were diagnosed significantly later than non-verbal and minimally verbal children. There was also a significant interaction of gender with verbal ability on age at diagnosis, in that female children with complex phrase speech were diagnosed later than male children with the same level of verbal ability. CONCLUSIONS: Our findings highlight the need to implement public awareness initiatives and training for professionals to promote early detection and, consequently, early intervention for autism spectrum disorder in Europe.
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11. Wachtel L, Commins E, Park M, Rolider N, Stephens R, Reti I. {{Neuroleptic malignant syndrome and delirious mania as malignant catatonia in autism: prompt relief with electroconvulsive therapy}}. {Acta Psychiatr Scand};2015 (May 28)
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12. Zhang W, Xu C, Tu H, Wang Y, Sun Q, Hu P, Hu Y, Rondard P, Liu J. {{GABA receptor upregulates fragile X mental retardation protein expression in neurons}}. {Sci Rep};2015;5:10468.
Fragile X mental retardation protein (FMRP) is an RNA-binding protein important for the control of translation and synaptic function. The mutation or silencing of FMRP causes Fragile X syndrome (FXS), which leads to intellectual disability and social impairment. gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter of the mammalian central nervous system, and its metabotropic GABAB receptor has been implicated in various mental disorders. The GABAB receptor agonist baclofen has been shown to improve FXS symptoms in a mouse model and in human patients, but the signaling events linking the GABAB receptor and FMRP are unknown. In this study, we found that GABAB receptor activation upregulated cAMP response element binding protein-dependent Fmrp expression in cultured mouse cerebellar granule neurons via two distinct mechanisms: the transactivation of insulin-like growth factor-1 receptor and activation of protein kinase C. In addition, a positive allosteric modulator of the GABAB receptor, CGP7930, stimulated Fmrp expression in neurons. These results suggest a role for GABAB receptor in Fmrp regulation and a potential interest of GABAB receptor signaling in FXS improvement.
