1. {{Bradley researchers find age-related changes in how autism affects the brain}}. {R I Med J (2013)};2013 (Apr);96(4):55.
2. Anderson A, Wong K, Jacoby P, Downs J, Leonard H. {{Twenty years of surveillance in Rett syndrome: what does this tell us?}}. {Orphanet J Rare Dis};2014 (Jun 19);9(1):87.
BACKGROUND: The clinical characteristics of children diagnosed with Rett syndrome are well described. Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to describe overall survival and adult health in those with Rett syndrome. METHODS: Using the Kaplan-Meier method, we estimated survival of individuals registered with the Australian Rett syndrome Database (ARSD) who had been followed for up to 20 years (n = 396). We then conducted logistic and linear regression analyses investigating epilepsy, musculoskeletal, gastrointestinal, autonomic dysfunction and behaviour of individuals aged 18 years and over using cross sectional cohorts from the ARSD (n = 150) and the international database InterRett (n = 273). RESULTS: The likelihood of survival was 77.6% at 20 years, 71.5% at 25 years and 59.8% at 37 years. The median age of the combined cross-sectional cohort was 25 years (range 18 to 54 years), the majority (71%) were living in their parental home and the remainder being cared for in group homes or other institutions. Just over half walked either independently (18%) or with assistance (43%). The majority (86%) had scoliosis with 40% of those having undergone corrective surgery. Almost two-thirds (64%) of the women were taking anti-epileptic medications at the time of data collection. Constipation was highly prevalent (83%) and many experienced bloating (53%). Biliary dyskinesia, inflammation or infection of the gallbladder was reported for 20 women (5%) and of those 13 had undergone gallbladder surgery. Sleep disturbance was relatively common (63%), and adverse mood events and anxiety were slightly more prevalent in those aged 26-30 years in comparison to the younger and older age groups. Other frequently reported medical conditions included urinary tract infections, pneumonia and other respiratory conditions. CONCLUSIONS: Survival in Rett syndrome has now been estimated with the most accurate follow up to date. During adulthood, continuation of multidisciplinary services and programs is necessary to optimise health and wellbeing.
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3. Baker SM, Milivojevich A, Kraycar T, Holt B, Gade S. {{Secular trend of sex ratio and symptom patterns among children with autism spectrum disorders}}. {Glob Adv Health Med};2014 (May);3(3):92-101.
An information technology invention embodied in a website serving the interests of the autism community was designed to « let the data talk. » By its use, the authors have detected a downward temporal trend in 2013 in the sex ratio of 2431 members of Autism360.org from a yearly average between 2010 and 2012 of 4.24 to 3.01 in 2013. As of the first two months of 2014, the average sex ratio is 2.69. We report contemporaneous changes in previously reported male vs female symptom patterns. Such changes suggest a convergence in which distinctive severity of certain grouped central nervous, emotional, and immune profile items in females have diminished toward that of males. The data also show correlations among these profile items that add further credence to the sex ratio findings. A wider dispersion of the female data as compared with the male data was found in the year preceding the downward trend in the mean sex ratio. The authors suggest that such a trend toward an increase in the variance of the data points to instability in the biological system-the autism spectrum. We conclude that public policy would be better served by monitoring changes in the standard deviation as compared with the mean in large data sets to better anticipate changes. The findings we report raise questions based on known sex differences in detoxification chemistry. One such question would be whether maternal, fetal, or individual exposure to a novel environmental factor may have breached the taller fence of female protection from toxins.
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4. Careaga M, Noyon T, Basuta K, Van de Water J, Tassone F, Hagerman RJ, Ashwood P. {{Group I metabotropic glutamate receptor mediated dynamic immune dysfunction in children with fragile X syndrome}}. {J Neuroinflammation};2014 (Jun 19);11(1):110.
BACKGROUND: Fragile X syndrome (FXS) is the leading cause of inheritable intellectual disability in male children, and is predominantly caused by a single gene mutation resulting in expanded trinucleotide CGG-repeats within the 5′ untranslated region of the fragile X mental retardation (FMR1) gene. Reports have suggested the presence of immune dysregulation in FXS with evidence of altered plasma cytokine levels; however, no studies have directly assessed functional cellular immune responses in children with FXS. In order to ascertain if immune dysregulation is present in children with FXS, dynamic cellular responses to immune stimulation were examined. METHODS: Peripheral blood mononuclear cells (PBMC) were from male children with FXS (n = 27) and from male aged-matched typically developing (TD) controls (n = 8). PBMC were cultured for 48 hours in media alone or with lipopolysaccharides (LPS; 1 mug/mL) to stimulate the innate immune response or with phytohemagglutinin (PHA; 8 mug/mL) to stimulate the adaptive T-cell response. Additionally, the group I mGluR agonist, DHPG, was added to cultures to ascertain the role of mGluR signaling in the immune response in subject with FXS. Supernatants were harvested and cytokine levels were assessed using Luminex multiplexing technology. RESULTS: Children with FXS displayed similar innate immune response following challenge with LPS alone when compared with TD controls; however, when LPS was added in the presence of a group I mGluR agonist, DHPG, increased immune response were observed in children with FXS for a number of pro-inflammatory cytokines including IL-6 (P = 0.02), and IL-12p40 (P < 0.01). Following PHA stimulation, with or without DHPG, no significant differences between subjects with FXS and TD were seen. CONCLUSIONS: In unstimulated cultures, subjects with FXS did not display altered dynamic immune response to LPS or PHA alone; however, subjects with FXS showed an altered response to co-current stimulation of LPS and DHPG, such that subjects with FXS failed to inhibit production of pro-inflammatory cytokines, suggesting a role of group I mGluR signaling in innate immune responses in FXS.
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5. Hoffmann TJ, Windham GC, Anderson M, Croen LA, Grether JK, Risch N. {{Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder: A Large, Population-Based Cohort Study}}. {JAMA Psychiatry};2014 (Jun 18)
Importance: Few studies have examined the curtailment of reproduction (ie, stoppage) after the diagnosis of a child with autism spectrum disorder (ASD). Objective: To examine stoppage in a large, population-based cohort of families in which a child has received a diagnosis of ASD. Design, Setting, and Participants: Individuals with ASD born from January 1, 1990, through December 31, 2003, were identified in the California Department of Developmental Services records, which were then linked to state birth certificates to identify full sibs and half-sibs and to obtain information on birth order and demographics. A total of 19 710 case families in which the first birth occurred within the study period was identified. These families included 39 361 individuals (sibs and half-sibs). Control individuals were randomly sampled from birth certificates and matched 2:1 to cases by sex, birth year, and maternal age, self-reported race/ethnicity, and county of birth after removal of children receiving services from the California Department of Developmental Services. Using similar linkage methods as for case families, 36 215 pure control families (including 75 724 total individuals) were identified that had no individuals with an ASD diagnosis. Exposures: History of affected children. Main Outcomes and Measures: Stoppage was investigated by comparing the reproductive behaviors of parents after the birth of a child with ASD vs an unaffected child using a survival analysis framework for time to next birth and adjusting for demographic variables. Results: For the first few years after the birth of a child with ASD, the parents’ reproductive behavior was similar to that of control parents. However, birth rates differed in subsequent years; overall, families whose first child had ASD had a second child at a rate of 0.668 (95% CI, 0.635-0.701) that of control families, adjusted for birth year, birth weight, maternal age, and self-reported maternal race/ethnicity. Results were similar when a later-born child was the first affected child in the family. Reproductive curtailment was slightly stronger among women who changed partners (relative rate for second-born children, 0.553 [95% CI, 0.498-0.614]). Conclusions and Relevance: These results provide the first quantitative assessment and convincing statistical evidence of reproductive stoppage related to ASD. These findings have implications for recurrence risk estimation and genetic counseling.
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6. Holmes PK, Gathright MM, Morris EM, Coffey DB. {{Psychotic symptoms and catatonia in a preadolescent boy with autism spectrum disorder}}. {J Child Adolesc Psychopharmacol};2014 (Jun);24(5):288-292.
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7. Machado Junior SB, Celestino MI, Serra JP, Caron J, Ponde MP. {{Risk and protective factors for symptoms of anxiety and depression in parents of children with autism spectrum disorder}}. {Dev Neurorehabil};2014 (Jun 20):1-8.
Abstract Objective: The severity of symptoms of anxiety and depression was evaluated in 102 parents of children with autism spectrum disorders (ASD) and correlated with the severity of their child’s behavioral symptoms. Design: An observational, cross-sectional study. Methods: The Portuguese versions of the Hospital Anxiety and Depression Scale and the Aberrant Behavior Checklist were used to assess symptoms in the parents and in their children. Main outcomes and results: Depression was present in 26.7% of parents and anxiety in 33.7%. Severe behavioral symptoms in the child increased the likelihood of severe anxiety and depression symptoms in the parents by a factor of 35. If the child had severe behavioral symptoms and the father lived in the family home, the likelihood of severe symptoms of anxiety and depression in the parents was 95.2% lower. Conclusion: The presence of the father living in the family home acted as a buffer against parents’ symptoms.
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8. Zerbo O, Yoshida C, Grether JK, Van de Water J, Ashwood P, Delorenze GN, Hansen RL, Kharrazi M, Croen LA. {{Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study}}. {J Neuroinflammation};2014 (Jun 20);11(1):113.
BACKGROUND: Biologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied on specimens taken after clinical diagnosis. Research on potential biologic markers early in neurodevelopment is required to evaluate possible causal pathways and screening profiles. OBJECTIVE: To investigate levels of cytokines and chemokines in newborn blood specimens as possible early biologic markers for autism. METHODS: We conducted a population-based case-control study nested within the cohort of infants born from July 2000 to September 2001 to women who participated in the prenatal screening program in Orange County, California, USA. The study population included children ascertained from the California Department of Developmental Services with Autism Spectrum Disorder (ASD, n = 84), or developmental delay but not ASD (DD, n = 49), and general population controls randomly sampled from the birth certificate files and frequency matched to ASD cases on sex, birth month and birth year (GP, n = 159). Cytokine and chemokine concentrations were measured in archived neonatal blood specimens collected for routine newborn screening. RESULTS: Cytokines were not detected in the vast majority of newborn samples regardless of case or control status. However, the chemokine monocyte chemotactic protein-1 (MCP-1) was elevated and the chemokine Regulated upon Activation Normal T-Cell Expressed and Secreted (RANTES) was decreased in ASD cases compared to GP controls. The chemokines macrophage inflammatory protein-1alpha (MIP-1alpha) and RANTES were decreased in children with DD compared to GP controls. CONCLUSION: Measurement of immune system function in the first few days of life may aid in the early identification of abnormal neurodevelopment and shed light on the biologic mechanisms underlying normal neurodevelopment.
