1. Adayev T, LaFauci G, Dobkin C, Caggana M, Wiley V, Field M, Wotton T, Kascsak R, Nolin SL, Glicksman A, Hosmer N, Brown W. {{Fragile X protein in newborn dried blood spots}}. {BMC Med Genet};2014 (Oct 28);15(1):119.
BackgroundThe fragile X syndrome (FXS) results from mutation of the FMR1 gene that prevents expression of its gene product, FMRP. We previously characterized 215 dried blood spots (DBS) representing different FMR1 genotypes and ages with a Luminex-based immunoassay (qFMRP). We found variable FMRP levels in the normal samples and identified affected males by the drastic reduction of FMRP.MethodsHere, to establish the variability of expression of FMRP in a larger random population we quantified FMRP in 2,000 anonymous fresh newborn DBS. We also evaluated the effect of long term storage on qFMRP by retrospectively assaying 74 aged newborn DBS that had been stored for 7-84 months that included normal and full mutation individuals. These analyses were performed on 3 mm DBS disks. To identify the alleles associated with the lowest FMRP levels in the fresh DBS, we analyzed the DNA in the samples that were more than two standard deviations below the mean.ResultsAnalysis of the fresh newborn DBS revealed a broad distribution of FMRP with a mean approximately 7-fold higher than that we previously reported for fresh DBS in normal adults and no samples whose FMRP level indicated FXS. DNA analysis of the lowest FMRP DBS showed that this was the low extreme of the normal range and included a female carrying a 165 CGG repeat premutation. In the retrospective study of aged newborn DBS, the FMRP mean of the normal samples was less than 30% of the mean of the fresh DBS. Despite the degraded signal from these aged DBS, qFMRP identified the FXS individuals.ConclusionsThe assay showed that newborn DBS contain high levels of FMRP that will allow identification of males and potentially females, affected by FXS. The assay is also an effective screening tool for aged DBS stored for up to four years.
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2. Curran EA, O’Neill SM, Cryan JF, Kenny LC, Dinan TG, Khashan AS, Kearney PM. {{Research Review: Birth by caesarean section and development of autism spectrum disorder and attention-deficit/hyperactivity disorder: a systematic review and meta-analysis}}. {J Child Psychol Psychiatry};2014 (Oct 27)
BACKGROUND: Given the growing prevalence of birth by Caesarean section (CS) worldwide, it is important to understand any long-term effects CS delivery may have on a child’s development. We assessed the impact of mode of delivery on autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). METHODS: We conducted a systematic review of the literature in PubMed, Embase, CINAHL, PsycINFO and Web of Science up to 28 February 2014. No publication date, language, location or age restrictions were employed. RESULTS: Thirteen studies reported an adjusted estimate for CS-ASD, producing a pooled odds ratio (OR) of 1.23 (95% CI: 1.07, 1.40). Two studies reported an adjusted estimate for CS-ADHD, producing a pooled OR of 1.07 (95% CI: 0.86, 1.33). CONCLUSIONS: Delivery by CS is associated with a modest increased odds of ASD, and possibly ADHD, when compared to vaginal delivery. Although the effect may be due to residual confounding, the current and accelerating rate of CS implies that even a small increase in the odds of disorders, such as ASD or ADHD, may have a large impact on the society as a whole. This warrants further investigation.
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3. de Bruin EI, Blom R, Smit FM, van Steensel FJ, Bogels SM. {{MYmind: Mindfulness training for Youngsters with autism spectrum disorders and their parents}}. {Autism};2014 (Oct 27)
BACKGROUND: Despite the dramatic increase in autism spectrum disorder in youth and the extremely high costs, hardly any evidence-based interventions are available. The aim of this study is to examine the effects of mindfulness training for adolescents with autism spectrum disorder, combined with Mindful Parenting training. METHOD: A total of 23 adolescents with autism spectrum disorder, referred to a mental health clinic, received nine weekly sessions of mindfulness training in group format. Their parents (18 mothers, 11 fathers) participated in parallel Mindful Parenting training. A pre-test, post-test, and 9-week follow-up design was used. Data were analyzed using multi-level analyses. RESULTS: Attendance rate was 88% for adolescents and fathers and 86% for mothers. Adolescents reported an increase in quality of life and a decrease in rumination, but no changes in worry, autism spectrum disorder core symptoms, or mindful awareness. Although parents reported no change in adolescent’s autism spectrum disorder core symptoms, they reported improved social responsiveness, social communication, social cognition, preoccupations, and social motivation. About themselves, parents reported improvement in general as well as in parental mindfulness. They reported improved competence in parenting, overall parenting styles, more specifically a less lax, verbose parenting style, and an increased quality of life. DISCUSSION: Mindfulness training for adolescents with autism spectrum disorder combined with Mindful Parenting is feasible. Although the sample size was small and no control group was included, the first outcomes of this innovative training are positive.
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4. Fuertes-Gonzalez MC, Silvestre FJ. {{Oral health in a group of patients with Rett syndrome in the regions of Valencia and Murcia (Spain): A case-control study}}. {Med Oral Patol Oral Cir Bucal};2014;19(6):e598-604.
OBJECTIVES: Rett syndrome (RS) is a rare disease with oral manifestations that have not been described in detail or in a standardized manner in the literature. The present study describes the oral health of the population with RS in two Spanish regions, following the protocol of the World Health Organization for conducting common oral health surveys. STUDY DESIGN: A prospective, observational case-control study was carried out, involving a group of patients with RS (n1=41) and a mean age of 13.37+/-3.19 years, and an age- and gender-matched control group without RS (n0=82). The data referred to oral health and habits were recorded by means of a questionnaire and oral examination was used to document caries indicators (prevalence of caries, df(t), df(s), DMF(T), DMF(S) and indices referred to dental loss, morbidity, restoration), the Community Periodontal Index (CPI), and the most characteristic oral manifestations. RESULTS: The most frequent oral habit in the patients with RS was diurnal bruxism, followed by stereotyped tongue movements and oral breathing. The caries scores were lower in the RS population than in the control group, but patients with RS showed greater periodontal alterations and a greater prevalence of drooling, dental wear, high-arched palate and anterior open bite. CONCLUSIONS: The population with RS exhibits characteristic and early oral habits and alterations, and periodontal problems that are more notorious than caries disease, so that our efforts should focus on the diagnosis and early correction of the parafunctional habits, promoting restorative treatment, and providing instructions on correct oral hygiene.
5. Jonch AE, Timshel S, Carlsen Lunding JM, Gronskov K, Brondum-Nielsen K. {{[From intellectual disability to new treatment modalities of fragile X syndrome.]}}. {Ugeskr Laeger};2014 (Feb 24);176(9A)
In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological mechanisms involved has made it possible to develop pharmacological treatment trials. Fragile X syndrome therefore is on its way as model disorder for targeted treatments in genetic medicine, and this article reviews clinical and therapeutic aspects of the syndrome.
6. Obafemi-Ajayi T, Miles JH, Takahashi TN, Qi W, Aldridge K, Zhang M, Xin SQ, He Y, Duan Y. {{Facial Structure Analysis Separates Autism Spectrum Disorders into Meaningful Clinical Subgroups}}. {J Autism Dev Disord};2014 (Oct 29)
Varied cluster analysis were applied to facial surface measurements from 62 prepubertal boys with essential autism to determine whether facial morphology constitutes viable biomarker for delineation of discrete Autism Spectrum Disorders (ASD) subgroups. Earlier study indicated utility of facial morphology for autism subgrouping (Aldridge et al. in Mol Autism 2(1):15, 2011). Geodesic distances between standardized facial landmarks were measured from three-dimensional stereo-photogrammetric images. Subjects were evaluated for autism-related symptoms, neurologic, cognitive, familial, and phenotypic variants. The most compact cluster is clinically characterized by severe ASD, significant cognitive impairment and language regression. This verifies utility of facially-based ASD subtypes and validates Aldridge et al.’s severe ASD subgroup, notwithstanding different techniques. It suggests that language regression may define a unique ASD subgroup with potential etiologic differences.
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7. Oddi D, Subashi E, Middei S, Bellocchio L, Lemaire-Mayo V, Guzman M, Crusio WE, D’Amato FR, Pietropaolo S. {{Early Social Enrichment Rescues Adult Behavioral and Brain Abnormalities in a Mouse Model of Fragile X Syndrome}}. {Neuropsychopharmacology};2014 (Oct 28)
Converging lines of evidence support the use of environmental stimulation to ameliorate the symptoms of a variety of neurodevelopmental disorders. Applying these interventions at very early ages is critical to achieve a marked reduction of the pathological phenotypes. Here we evaluated the impact of early social enrichment in Fmr1-KO mice, a genetic mouse model of fragile X syndrome (FXS), a major developmental disorder and the most frequent monogenic cause of autism. Enrichment was achieved by providing male KO pups and their WT littermates with enhanced social stimulation, housing them from birth until weaning with the mother and an additional non-lactating female. At adulthood they were tested for locomotor, social and cognitive abilities; furthermore, dendritic alterations were assessed in the hippocampus and amygdala, two brain regions known to be involved in the control of the examined behaviors and affected by spine pathology in Fmr1-KOs. Enrichment rescued the behavioral FXS-like deficits displayed in adulthood by Fmr1-KO mice, i.e., hyperactivity, reduced social interactions, and cognitive deficits. Early social enrichment also eliminated the abnormalities shown by adult KO mice in the morphology of hippocampal and amygdala dendritic spines, namely an enhanced density of immature versus mature types. Importantly, enrichment did not induce neurobehavioral changes in WT mice, thus supporting specific effects on FXS-like pathology. These findings show that early environmental stimulation has profound and long-term beneficial effects on the pathological FXS phenotype, thereby encouraging the use of non-pharmacological interventions for the treatment of this and perhaps other neurodevelopmental diseases.Neuropsychopharmacology accepted article preview online, 28 October 2014. doi:10.1038/npp.2014.291.
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8. Simoncini M, Miniati M, Vanelli F, Callari A, Vannucchi G, Mauri M, Dell’Osso L. {{Lifetime autism spectrum features in a patient with a psychotic mixed episode who attempted suicide}}. {Case Rep Psychiatry};2014;2014:459524.
We present a case report of a young man who attempted suicide during a mixed episode with psychotic symptoms. The patient’s history revealed the lifetime presence of signs and features belonging to the autism spectrum realm that had been completely overlooked. We believe that this case is representative of an important and barely researched topic: what happens to children with nondiagnosed and nontreated subthreshold forms of autism when they grow old. The issue of early recognition of autism spectrum signs and symptoms is discussed, raising questions on the diagnostic boundaries between autism and childhood onset psychotic spectrums among patients who subsequently develop a full-blown psychotic disorder.
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9. Wiggins LD, Reynolds A, Rice CE, Moody EJ, Bernal P, Blaskey L, Rosenberg SA, Lee LC, Levy SE. {{Using Standardized Diagnostic Instruments to Classify Children with Autism in the Study to Explore Early Development}}. {J Autism Dev Disord};2014 (Oct 28)
The Study to Explore Early Development (SEED) is a multi-site case-control study designed to explore the relationship between autism spectrum disorder (ASD) phenotypes and etiologies. The goals of this paper are to (1) describe the SEED algorithm that uses the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) to classify children with ASD, (2) examine psychometric properties of different ASD classification methods, including the SEED method that incorporates rules for resolving ADI-R and ADOS discordance, and (3) determine whether restricted interests and repetitive behaviors were noted for children who had instrument discordance resolved using ADI-R social and communication scores. Results support the utility of SEED criteria when well-defined groups of children are an important clinical or research outcome.
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10. Yoder PJ, Bottema-Beutel K, Woynaroski T, Chandrasekhar R, Sandbank M. {{Social communication intervention effects vary by dependent variable type in preschoolers with autism spectrum disorders}}. {Evid Based Commun Assess Interv};2013;7(4):150-174.
Individuals with autism spectrum disorders (ASDs) have difficulty communicating in ways that are primarily for initiating and maintaining social relatedness (i.e., social communication). We hypothesized that the way researchers measured social communication would affect whether treatment effects were found. Using a best evidence review method, we found that treatments were shown to improve social communication outcomes approximately 54% of the time. The probability that a treatment affected social communication varied greatly depending on whether social communication was directly targeted (63%) or not (39%). Finally, the probability that a treatment affected social communication also varied greatly depending on whether social communication as measured in (a) contexts very similar to treatment sessions (82%) or (b) contexts that differed from treatment on at least setting, materials, and communication partner (33%). This paper also provides several methodological contributions.
