1. Ankenman K, Elgin J, Sullivan K, Vincent L, Bernier R. {{Nonverbal and verbal cognitive discrepancy profiles in autism spectrum disorders: influence of age and gender}}. {Am J Intellect Dev Disabil};2014 (Jan);119(1):84-99.
Abstract Research suggests that discrepant cognitive abilities are more common in children with autism spectrum disorder (ASD) and may indicate an important ASD endophenotype. The current study examined the frequency of IQ discrepancy profiles (nonverbal IQ > verbal IQ [NVIQ > VIQ], verbal IQ > nonverbal IQ [VIQ > NVIQ], and no split) and the relationship of gender, age, and ASD symptomatology to IQ discrepancy profile in a large sample of children with ASD. The NVIQ > VIQ profile occurred at a higher frequency than expected, had more young males, and showed more autism symptoms than the other groups. Results suggest that the NVIQ > VIQ profile may be less likely to represent a subtype of ASD, but rather a common developmental pathway for children with ASD and other disorders.
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2. Braddock B, Twyman K. {{Access to Treatment for Toddlers With Autism Spectrum Disorders}}. {Clin Pediatr (Phila)};2014 (Jan 24)
New research shows that intensive and early intervention (EI) has the potential to change brain function in young children with Autism Spectrum Disorders (ASD). Despite the positive benefit of EI, many families (n = 16) reported difficulties accessing EI services following an ASD diagnosis at the intensity viewed necessary for optimal child outcome. Parents reported that on average they secured 6.81 hours of services per month and that limited access to EI services led to increased parental stress at a time when a new ASD diagnosis was often overwhelming. Findings are discussed in terms of support to families who are experiencing difficulties accessing care after new ASD diagnosis.
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3. Burgess S, Cimera RE. {{Employment outcomes of transition-aged adults with autism spectrum disorders: a state of the States report}}. {Am J Intellect Dev Disabil};2014 (Jan);119(1):64-83.
Abstract The primary purpose of this study was to evaluate the employment outcomes of transition-aged adults with autism spectrum disorders (ASD) served by vocational rehabilitation services (VR) over the last 10 years by state. A secondary purpose was to compare employment outcomes of individuals with ASD to those of the overall transition-aged population served by VR for the same time period. Although there was variability both within and among states, the results of this study indicate that, over time, the number of young adults with ASD seeking VR services has increased; however, employment outcomes including the percent of adults with ASD achieving employment, the number of hours worked, and wages earned have not improved for this group. The cost to provide VR services to transition-aged adults with ASD was relatively stable over time. Transition-aged adults with ASD were more likely to become successfully employed as a result of receiving VR services than the overall population of transition-aged adults served by VR. However, the employed transition-aged adults consistently worked fewer hours and earned lower wages than those in the overall population. Factors that may influence variability within and among states, and between groups, and implications for research and practice are discussed.
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4. Chantiluke K, Barrett N, Giampietro V, Brammer M, Simmons A, Murphy DG, Rubia K. {{Inverse Effect of Fluoxetine on Medial Prefrontal Cortex Activation During Reward Reversal in ADHD and Autism}}. {Cereb Cortex};2014 (Jan 22)
Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) share brain function abnormalities during cognitive flexibility. Serotonin is involved in both disorders, and selective serotonin reuptake inhibitors (SSRIs) can modulate cognitive flexibility and improve behavior in both disorders. Thus, this study investigates shared and disorder-specific brain dysfunctions in these 2 disorders during reward reversal, and the acute effects of an SSRI on these. Age-matched boys with ADHD (15), ASD (18), and controls (21) were compared with functional magnetic resonance imaging (fMRI) during a reversal task. Patients were scanned twice, under either an acute dose of Fluoxetine or placebo in a double-blind, placebo-controlled randomized design. Repeated-measures analyses within patients assessed drug effects. Patients under each drug condition were compared with controls to assess normalization effects. fMRI data showed that, under placebo, ASD boys underactivated medial prefrontal cortex (mPFC), compared with control and ADHD boys. Both patient groups shared decreased precuneus activation. Under Fluoxetine, mPFC activation was up-regulated and normalized in ASD boys relative to controls, but down-regulated in ADHD boys relative to placebo, which was concomitant with worse task performance in ADHD. Fluoxetine therefore has inverse effects on mPFC activation in ASD and ADHD during reversal learning, suggesting dissociated underlying serotonin abnormalities.
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5. Ciccoli L, De Felice C, Paccagnini E, Leoncini S, Pecorelli A, Signorini C, Belmonte G, Guerranti R, Cortelazzo A, Gentile M, Zollo G, Durand T, Valacchi G, Rossi M, Hayek J. {{Erythrocyte Shape Abnormalities, Membrane Oxidative Damage, and beta -Actin Alterations: An Unrecognized Triad in Classical Autism}}. {Mediators Inflamm};2013;2013:432616.
Autism spectrum disorders (ASDs) are a complex group of neurodevelopment disorders steadily rising in frequency and treatment refractory, where the search for biological markers is of paramount importance. Although red blood cells (RBCs) membrane lipidomics and rheological variables have been reported to be altered, with some suggestions indicating an increased lipid peroxidation in the erythrocyte membrane, to date no information exists on how the oxidative membrane damage may affect cytoskeletal membrane proteins and, ultimately, RBCs shape in autism. Here, we investigated RBC morphology by scanning electron microscopy in patients with classical autism, that is, the predominant ASDs phenotype (age range: 6-26 years), nonautistic neurodevelopmental disorders (i.e., « positive controls »), and healthy controls (i.e., « negative controls »). A high percentage of altered RBCs shapes, predominantly elliptocytes, was observed in autistic patients, but not in both control groups. The RBCs altered morphology in autistic subjects was related to increased erythrocyte membrane F2-isoprostanes and 4-hydroxynonenal protein adducts. In addition, an oxidative damage of the erythrocyte membrane beta -actin protein was evidenced. Therefore, the combination of erythrocyte shape abnormalities, erythrocyte membrane oxidative damage, and beta -actin alterations constitutes a previously unrecognized triad in classical autism and provides new biological markers in the diagnostic workup of ASDs.
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6. Cortelazzo A, Guerranti R, De Felice C, Signorini C, Leoncini S, Pecorelli A, Landi C, Bini L, Montomoli B, Sticozzi C, Ciccoli L, Valacchi G, Hayek J. {{A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant}}. {Mediators Inflamm};2013;2013:438653.
Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Although over 200 mutations types have been identified so far, nine of which the most frequent ones. A wide phenotypical heterogeneity is a well-known feature of the disease, with different clinical presentations, including the classical form and the preserved speech variant (PSV). Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV. Plasma proteome was analysed by 2-DE/MALDI-TOF MS. A significant overexpression of six proteins in the classical sisters was detected as compared to the PSV siblings. A total of five out of six (i.e., 83.3%) of the overexpressed proteins were well-known acute phase response (APR) proteins, including alpha-1-microglobulin, haptoglobin, fibrinogen beta chain, alpha-1-antitrypsin, and complement C3. Therefore, the examined RTT siblings pairs proved to be an important benchmark model to test the molecular basis of phenotypical expression variability and to identify potential therapeutic targets of the disease.
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7. Goch CJ, Stieltjes B, Henze R, Hering J, Poustka L, Meinzer HP, Maier-Hein KH. {{Quantification of changes in language-related brain areas in autism spectrum disorders using large-scale network analysis}}. {Int J Comput Assist Radiol Surg};2014 (Jan 24)
PURPOSE: Diagnosis of autism spectrum disorders (ASD) is difficult, as symptoms vary greatly and are difficult to quantify objectively. Recent work has focused on the assessment of non-invasive diffusion tensor imaging-based biomarkers that reflect the microstructural characteristics of neuronal pathways in the brain. While tractography-based approaches typically analyze specific structures of interest, a graph-based large-scale network analysis of the connectome can yield comprehensive measures of larger-scale architectural patterns in the brain. Commonly applied global network indices, however, do not provide any specificity with respect to functional areas or anatomical structures. Aim of this work was to assess the concept of network centrality as a tool to perform locally specific analysis without disregarding the global network architecture and compare it to other popular network indices. METHODS: We create connectome networks from fiber tractographies and parcellations of the human brain and compute global network indices as well as local indices for Wernicke’s Area, Broca’s Area and the Motor Cortex. Our approach was evaluated on 18 children suffering from ASD and 18 typically developed controls using magnetic resonance imaging-based cortical parcellations in combination with diffusion tensor imaging tractography. RESULTS: We show that the network centrality of Wernicke’s area is significantly (p [Formula: see text] 0.001) reduced in ASD, while the motor cortex, which was used as a control region, did not show significant alterations. This could reflect the reduced capacity for comprehension of language in ASD. CONCLUSIONS: The betweenness centrality could potentially be an important metric in the development of future diagnostic tools in the clinical context of ASD diagnosis. Our results further demonstrate the applicability of large-scale network analysis tools in the domain of region-specific analysis with a potential application in many different psychological disorders.
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8. Goodwin A, Fein D, Naigles L. {{The role of maternal input in the development of wh-question comprehension in autism and typical development}}. {J Child Lang};2014 (Jan 24):1-32.
ABSTRACT Social deficits have been implicated in the language delays and deficits of children with autism (ASD); thus, the extent to which these children use language input in social contexts similarly to typically developing (TD) children is unknown. The current study investigated how caregiver input influenced the development of wh-question comprehension in TD children and language-matched preschoolers with ASD. Children were visited at four-month intervals over 1.5 years; mother-child play sessions at visits 1-2 were coded for maternal wh-question use. At visits 3-5 children watched videos in the Intermodal Preferential Looking paradigm, to assess their comprehension of subject and object wh-questions. Mothers’ use of wh-questions with verbs and complex wh-questions positively predicted wh-question comprehension in the TD group; in contrast, mothers’ use of wh-questions with ‘be’ as the main verb negatively predicted wh-question comprehension in the ASD group. Thus, TD children and children with ASD appear to use their linguistic input differently.
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9. Hall SS, Hustyi KM, Hammond JL, Hirt M, Reiss AL. {{Using Discrete Trial Training to Identify Specific Learning Impairments in Boys with Fragile X Syndrome}}. {J Autism Dev Disord};2014 (Jan 23)
We examined whether discrete trial training (DTT) could be used to identify learning impairments in mathematical reasoning in boys with fragile X syndrome (FXS). Boys with FXS, aged 10-23 years, and age and IQ-matched controls, were trained to match fractions to pie-charts and pie-charts to decimals either on a computer or with a trained behavior analyst using DTT. Participants with FXS obtained significantly lower learning rates on the fractions to pie-charts task, and were more likely to perseverate on previously reinforced responses during learning compared to controls. These data suggest that DTT can be used to identify specific learning impairments in boys with FXS, as well as other low-functioning individuals with developmental disabilities.
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10. Irvin DW, Boyd BA, Odom SL. {{Child and setting characteristics affecting the adult talk directed at preschoolers with autism spectrum disorder in the inclusive classroom}}. {Autism};2014 (Jan 24)
Difficulty with social competence is a core deficit of autism spectrum disorder. Research on typically developing children and children with disabilities, in general, suggests the adult talk received in the classroom is related to their social development. The aims of this study were to examine (1) the types and amounts of adult talk children with autism spectrum disorder are exposed to in the preschool classroom and (2) the associations between child characteristics (e.g. language), activity area, and adult talk. Kontos’ Teacher Talk classification was used to code videos approximately 30 min in length of 73 children with autism spectrum disorder (ages 3-5) in inclusive classrooms (n = 33) during center time. The results indicated practical/personal assistance was the most common type of adult talk coded, and behavior management talk least often coded. Child characteristics (i.e. age and autism severity) and activity area were found to be related to specific types of adult talk. Given the findings, implications for future research are discussed.
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11. Kwok SY, Leung CL, Wong DF. {{Marital satisfaction of Chinese mothers of children with autism and intellectual disabilities in Hong Kong}}. {J Intellect Disabil Res};2014 (Jan 22)
BACKGROUND: Previous research showed an association among perceived stigma, perceived caregiving burden and marital satisfaction of mothers. However, little is known about their relationship among mothers of young children with disabilities in the Chinese context. The mediating role of perceived caregiving burden between perceived stigma and marital satisfaction was seldom explored. Hence, the present study aims to investigate the relationship between perceived stigma, perceived caregiving burden and marital satisfaction of Chinese mothers of children with intellectual disabilities or autism spectrum disorders in Hong Kong. METHODS: A cross-sectional survey using convenience sampling was conducted with mothers of pre-school children with disabilities aged from 2 to 6. A total of 160 completed questionnaires were collected from five special child care centres in Hong Kong. RESULTS: The findings in the hierarchical regression analyses showed that perceived stigma and perceived caregiving burden were significant predictors of mothers’ marital satisfaction. Perceived burden, including perceived social burden, emotional burden and developmental burden but excluding time-dependence and physical burden, were found to be significant mediators between perceived stigma and marital satisfaction. CONCLUSION: To address the negative consequences brought on by stigma, measures can be taken to prevent stigmatisation and minimise the harmful effects. To alleviate mothers’ perceived burden, Acceptance and Commitment Therapy, mutual support groups and psycho-educational and skills training programmes can be conducted for the mothers.
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12. Maenner MJ, Rice CE, Arneson CL, Cunniff C, Schieve LA, Carpenter LA, Van Naarden Braun K, Kirby RS, Bakian AV, Durkin MS. {{Potential Impact of DSM-5 Criteria on Autism Spectrum Disorder Prevalence Estimates}}. {JAMA Psychiatry};2014 (Jan 22)
IMPORTANCE The DSM-5 contains revised diagnostic criteria for autism spectrum disorder (ASD) from the DSM-IV-TR. Potential impacts of the new criteria on ASD prevalence are unclear. OBJECTIVE To assess potential effects of the DSM-5 ASD criteria on ASD prevalence estimation by retrospectively applying the new criteria to population-based surveillance data collected for previous ASD prevalence estimation. DESIGN, SETTING, AND PARTICIPANTS Cross-sectional, population-based ASD surveillance based on clinician review of coded behaviors documented in children’s medical and educational evaluations from 14 geographically defined areas in the United States participating in the Autism and Developmental Disabilities Monitoring (ADDM) Network in 2006 and 2008. This study included 8-year-old children living in ADDM Network study areas in 2006 or 2008, including 644 883 children under surveillance, of whom 6577 met surveillance ASD case status based on the DSM-IV-TR. MAIN OUTCOMES AND MEASURES Proportion of children meeting ADDM Network ASD criteria based on the DSM-IV-TR who also met DSM-5 criteria; overall prevalence of ASD using DSM-5 criteria. RESULTS Among the 6577 children classified by the ADDM Network as having ASD based on the DSM-IV-TR, 5339 (81.2%) met DSM-5 ASD criteria. This percentage was similar for boys and girls but higher for those with than without intellectual disability (86.6% and 72.5%, respectively; P < .001). A total of 304 children met DSM-5 ASD criteria but not current ADDM Network ASD case status. Based on these findings, ASD prevalence per 1000 for 2008 would have been 10.0 (95% CI, 9.6-10.3) using DSM-5 criteria compared with the reported prevalence based on DSM-IV-TR criteria of 11.3 (95% CI, 11.0-11.7). CONCLUSIONS AND RELEVANCE Autism spectrum disorder prevalence estimates will likely be lower under DSM-5 than under DSM-IV-TR diagnostic criteria, although this effect could be tempered by future adaptation of diagnostic practices and documentation of behaviors to fit the new criteria.
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13. Nair A, Keown CL, Datko M, Shih P, Keehn B, Muller RA. {{Impact of methodological variables on functional connectivity findings in autism spectrum disorders}}. {Hum Brain Mapp};2014 (Jan 22)
Growing evidence suggests that Autism Spectrum Disorder (ASD) involves abnormalities of multiple functional networks. Neuroimaging studies of ASD have therefore increasingly focused on connectivity. Many functional connectivity (fcMRI) studies have reported network underconnectivity in children and adults with ASD. However, there are notable inconsistencies, with some studies reporting overconnectivity. A previous literature survey suggested that a few methodological factors play a crucial role in differential fcMRI outcomes. Using three ASD data sets (two task-related, one resting state) from 54 ASD and 51 typically developing (TD) participants (ages 9-18 years), we examined the impact of four methodological factors: type of pipeline (co-activation vs. intrinsic analysis, related to temporal filtering and removal of task-related effects), seed selection, field of view (whole brain vs. limited ROIs), and dataset. Significant effects were found for type of pipeline, field of view, and dataset. Notably, for each dataset results ranging from robust underconnectivity to robust overconnectivity were detected, depending on the type of pipeline, with intrinsic fcMRI analyses (low bandpass filter and task regressor) predominantly yielding overconnectivity in ASD, but co-activation analyses (no low bandpass filter or task removal) mostly generating underconnectivity findings. These results suggest that methodological variables have dramatic impact on group differences reported in fcMRI studies. Improved awareness of their implications appears indispensible in fcMRI studies when inferences about « underconnectivity » or « overconnectivity » in ASD are made. In the absence of a gold standard for functional connectivity, the combination of different methodological approaches promises a more comprehensive understanding of connectivity in ASD. Hum Brain Mapp, 2014. (c) 2014 Wiley Periodicals,Inc.
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14. Pecorelli A, Leoni G, Cervellati F, Canali R, Signorini C, Leoncini S, Cortelazzo A, De Felice C, Ciccoli L, Hayek J, Valacchi G. {{Genes related to mitochondrial functions, protein degradation, and chromatin folding are differentially expressed in lymphomonocytes of rett syndrome patients}}. {Mediators Inflamm};2013;2013:137629.
Rett syndrome (RTT) is mainly caused by mutations in the X-linked methyl-CpG binding protein (MeCP2) gene. By binding to methylated promoters on CpG islands, MeCP2 protein is able to modulate several genes and important cellular pathways. Therefore, mutations in MeCP2 can seriously affect the cellular phenotype. Today, the pathways that MeCP2 mutations are able to affect in RTT are not clear yet. The aim of our study was to investigate the gene expression profiles in peripheral blood lymphomonocytes (PBMC) isolated from RTT patients to try to evidence new genes and new pathways that are involved in RTT pathophysiology. LIMMA (Linear Models for MicroArray) and SAM (Significance Analysis of Microarrays) analyses on microarray data from 12 RTT patients and 7 control subjects identified 482 genes modulated in RTT, of which 430 were upregulated and 52 were downregulated. Functional clustering of a total of 146 genes in RTT identified key biological pathways related to mitochondrial function and organization, cellular ubiquitination and proteosome degradation, RNA processing, and chromatin folding. Our microarray data reveal an overexpression of genes involved in ATP synthesis suggesting altered energy requirement that parallels with increased activities of protein degradation. In conclusion, these findings suggest that mitochondrial-ATP-proteasome functions are likely to be involved in RTT clinical features.
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15. Raspa M, Bailey DB, Jr., Bann C, Bishop E. {{Modeling family adaptation to fragile x syndrome}}. {Am J Intellect Dev Disabil};2014 (Jan);119(1):33-48.
Abstract Using data from a survey of 1,099 families who have a child with Fragile X syndrome, we examined adaptation across 7 dimensions of family life: parenting knowledge, social support, social life, financial impact, well-being, quality of life, and overall impact. Results illustrate that although families report a high quality of life, they struggle with areas such as social support, social life, and parenting knowledge. Path analysis revealed that child and family factors play a role in adaptation, but family resources and social supports moderated their effect on quality of life, well-being, and overall impact. The interrelationship among multiple aspects of family life should be examined to improve family resiliency.
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16. Reaven J, Blakeley-Smith A, Beattie TL, Sullivan A, Moody EJ, Stern JA, Hepburn SL, Smith IM. {{Improving transportability of a cognitive-behavioral treatment intervention for anxiety in youth with autism spectrum disorders: Results from a US-Canada collaboration}}. {Autism};2014 (Jan 24)
Anxiety disorders frequently co-occur in youth with autism spectrum disorders. In addition to developing efficacious treatments for anxiety in children with autism spectrum disorders, it is important to examine the transportability of these treatments to real-world settings. Study aims were to (a) train clinicians to deliver Facing Your Fears: Group Therapy for Managing Anxiety in Children with High-Functioning Autism Spectrum Disorders to fidelity and (b) examine feasibility of the program for novel settings. A secondary aim was to examine preliminary youth treatment outcome. Results indicated that clinicians obtained excellent fidelity following a workshop and ongoing consultation. Acceptability ratings indicated that Facing Your Fears Therapy was viewed favorably, and critiques were incorporated into program revisions. Meaningful reductions in anxiety were reported posttreatment for 53% of children. Results support the initial effectiveness and transportability of Facing Your Fears Therapy in new clinical settings.
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17. Russo-Ponsaran NM, Yesensky J, Hessl D, Berry-Kravis E. {{Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile x syndrome}}. {Am J Intellect Dev Disabil};2014 (Jan);119(1):1-16.
Abstract Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most common known genetic cause of autism. FXS is associated with psychiatric impairments, including anxiety disorders. There is a paucity of well-developed measures to characterize anxiety in FXS. However, such scales are needed to measure therapeutic responses to interventions. The Pediatric Anxiety Rating Scale-Revised (PARS-R) was evaluated in 49 individuals with FXS. Feasibility, reproducibility, and clinical validity were assessed. High inter-rater, test-retest, and cross-site reliability were achieved. PARS-R scores were correlated with parent-report and physician ratings of anxiety, suggesting good clinical validity. Results were similar within gender and age subgroups. The PARS-R is a promising tool for measuring the efficacy of interventions targeting anxiety in FXS.
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18. Salem AM, Ismail S, Zarouk WA, Abdul Baky O, Sayed AA, Abd El-Hamid S, Salem S. {{Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients}}. {ScientificWorldJournal};2013 (Dec 23);2013:670621.
Autism is a neurodevelopmental disorder with indisputable evidence for a genetic component. This work studied the association of autism with genetic variations in neurotransmitter-related genes, including MAOA uVNTR, MAOB rs1799836, and DRD2 TaqI A in 53 autistic patients and 30 healthy individuals. The study also analyzed sequence variations of miR-431 and miR-21. MAOA uVNTR was genotyped by PCR, MAOB and DRD2 polymorphisms were analyzed by PCR-based RFLP, and miR-431 and miR-21 were sequenced. Low expressing allele of MAOA uVNTR was frequently higher in female patients compared to that in controls (OR = 2.25). MAOB G allele frequency was more significantly increased in autistic patients than in controls (P < 0.001 for both males and females). DRD2 A1+ genotype increased autism risk (OR = 5.1). Severity of autism tends to be slightly affected by MAOA/B genotype. Plasma MAOB activity was significantly reduced in G than in A allele carrying males. There was no significant difference in patients and maternal plasma MAOA/B activity compared to controls. Neither mutations nor SNPs in miR-431 and miR-21 were found among studied patients. This study threw light on some neurotransmitter-related genes suggesting their potential role in Autism pathogenesis that warrants further studies and much consideration.
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19. Tonge BJ, Bull K, Brereton A, Wilson R. {{A review of evidence-based early intervention for behavioural problems in children with autism spectrum disorder: the core components of effective programs, child-focused interventions and comprehensive treatment models}}. {Curr Opin Psychiatry};2014 (Jan 21)
PURPOSE OF REVIEW: This article reviews recent evidence and other earlier relevant articles regarding early intervention studies for children with autism spectrum disorder (ASD). RECENT FINDINGS: There is a well-established body of empirical evidence for the effectiveness of Early Intensive Behavioural Intervention (EIBI) with young children with ASD. The importance of parent skills training, education and positive behaviour support is also a key factor in influencing outcomes. Drug treatment is of short-term benefit for disruptive behaviour but long-term outcome and metabolic side-effects have not been studied. SUMMARY: Few studies have measured the long-term value and effectiveness of early intervention treatments, and currently there are no articles published on effects into adulthood of such treatments. Such research would indicate whether early intervention results in reduced reliance on health services into adulthood.
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20. Tosh D, Rao KL, Rani HS, Deenadayal DA, Murty US, Grover P. {{Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis}}. {Arch Gynecol Obstet};2014 (Jan 23)
AIM: The aim of the present study was to investigate the association between FMR1 premutation and premature ovarian failure (POF) patients in Indian population, and a meta-analysis of published results was undertaken to clarify whether FMR1 premutation consistently contributed to the susceptibility. METHODS: A total of 289 POF samples and 360 control samples were included in the study. Repeat variation was checked using GeneScan technique. Results were analyzed with GeneMapper software. Meta-analysis was performed using the Open Meta-Analyst and STATA 12.0 software. The crude odds ratio with 95 % confidence interval (CI) was computed to assess the strength of the associations. RESULTS: The assayed case and control population showed 29 different CGG repeat sizes (alleles), ranging from 7 to 40. Within this population, we found that the CGG repeat length polymorphisms were within the normal range of 6-55 in both patients as well as control samples. Eleven case-control studies were included in the meta-analysis with a total of 1,313 POF cases and 3,132 control subjects. Our meta-analysis revealed that there was a significant difference in the incidence of FMR1 premutation between POF cases and control subjects with p value <0.001 (OR 5.41; 95 % CI 2.53, 11.61). CONCLUSIONS: We found no significant association between FMR1 CGG repeat premutation and POF in Indian population. However, the meta-analysis showed an increased risk of POF associated with a premutation, especially among populations from European descent. Further functional research should be performed to explain the inconsistent results in different ethnicities and POF susceptibility.
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21. Wang Z, Hong Y, Zou L, Zhong R, Zhu B, Shen N, Chen W, Lou J, Ke J, Zhang T, Wang W, Miao X. {{Reelin gene variants and risk of autism spectrum disorders: An integrated meta-analysis}}. {Am J Med Genet B Neuropsychiatr Genet};2014 (Jan 22)
Autism spectrum disorder (ASD) is a severe neurological disorder with a high degree of heritability. Reelin gene (RELN), which plays a crucial role in the migration and positioning of neurons during brain development, has been strongly posed as a candidate gene for ASD. Genetic variants in RELN have been investigated as risk factors of ASD in numerous epidemiologic studies but with inconclusive results. To clearly discern the effects of RELN variants on ASD, the authors conducted a meta-analysis integrating case-control and transmission disequilibrium test (TDT) studies published through 2001 to 2013. Odds ratios (ORs) with 95% confidence intervals were used to estimate the associations between three RELN variants (rs736707, rs362691, and GGC repeat variant) and ASD. In overall meta-analysis, the summary ORs for rs736707, rs362691, and GGC repeat variant were 1.11 [95% confidence interval (CI): 0.80-1.54], 0.69 (95% CI: 0.56-0.86), and 1.09 (95% CI: 0.97-1.23), respectively. Besides, positive result was also obtained in subgroup of broadly-defined ASD for rs362691 (OR = 0.67, 95% CI: 0.52-0.86). Our meta-analysis revealed that the RELN rs362691, rather than rs736707 or GGC repeat variant, might contribute significantly to ASD risk. (c) 2014 Wiley Periodicals, Inc.
