1. Cheak-Zamora NC, Yang X, Farmer JE, Clark M. {{Disparities in Transition Planning for Youth With Autism Spectrum Disorder}}. {Pediatrics};2013 (Feb 11)
OBJECTIVE:Little is known about accessibility to health care transition (HCT) services for youth with autism spectrum disorder (ASD). This study expands our understanding by examining the receipt of HCT services in youth with ASD compared with youth with other special health care needs (OSHCN).METHODS:We used the 2005-2006 National Survey of Children with Special Health Care Needs to examine receipt of HCT services for youth (aged 12-17 years) with ASD and youth with OSHCN. Logistic regression analyses explored whether individual, family, or health system factors were associated with receipt of HCT services for youth with ASD.RESULTS:Whereas half of youth with OSHCN received HCT services, less than a quarter of youth with ASD did. Only 14% of youth with ASD had a discussion with their pediatrician about transitioning to an adult provider, less than a quarter had a discussion about health insurance retention, and just under half discussed adult health care needs or were encouraged to take on appropriate responsibility. Logistic regression analyses indicated that having a developmental disability or multiple health conditions in addition to ASD and quality of health care were strong predictors of HCT, whereas demographic and family variables accounted for little variance.CONCLUSIONS:Youth with ASD experience disparities in access to HCT services. Youth with comorbid conditions are at greatest risk for poor access to HCT services and increased quality of care has a positive effect. Research is needed to understand barriers to care and develop policy and practice guidelines tailored for youth with ASD.
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2. Das DK, Udani V, Sanghavi D, Adhia R, Maitra A. {{Mutational Analysis of Methyl-CpG Binding Protein 2 (MECP2) Gene in Indian Cases of Rett Syndrome}}. {J Clin Lab Anal};2013 (Feb 11)
Rett syndrome (RTT) is an X-linked postnatal neurological disorder, primarily affecting females and characterized by regression, epilepsy, stereotypical hand movements, and motor abnormalities. Its prevalence is about 1 in 10,000 female births. RTT is caused by mutations within methyl CpG-binding protein 2 (MECP2) gene. Over 200 individual nucleotide changes in the gene, which cause pathogenic mutations, have been reported; however, eight most commonly occurring missense and nonsense mutations account for almost 70% of all mutations. RTT cases have also been reported from India. The phenotype (classical and atypical inclusive) has many differentials. However, a genetically based confirmed diagnosis would help in management and counseling. In this pilot study we have analyzed MECP2 mutations in ten Indian sporadic patients diagnosed clinically as having RTT. Two mutations and one novel variant in MECP2 have been detected. Missense mutations p.R133C and c.806delG have been detected. The missence mutation p.R133C was the part of eight hotspots reported in Rett patients. This patient met all the essential criteria except delayed onset of regression. The other c.806delG mutation positive patient also fulfilled all the obligatory criteria of classical RTT. Another clinically atypical Rett patient showed a novel mutation p.C339S in MECP2 gene. The preliminary result necessitates a large-scale study of RTT patients to determine more precisely the influence of MECP2 mutations in Indian patients and their correlation with clinical phenotypes.
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3. Ferder I, Parborell F, Sundblad V, Chiauzzi V, Gomez K, Charreau E, Tesone M, Dain L. {{Expression of fragile X mental retardation protein (FMRP) and Fmr1 mRNA during folliculogenesis in the rat}}. {Reproduction};2013 (Feb 11)
Fragile X mental retardation protein belongs to a small family of RNA-binding proteins. Its absence or inactivity is responsible for Fragile X Syndrome, the most common cause of inherited mental retardation. Despite its ubiquitous expression, FMRP function and expression remain almost understudied in non-neuronal tissues, though previous studies on germline development during oogenesis may suggest a special function of this protein also in ovarian tissue. In addition, the well documented association of FMR1 premutation state with Fragile X-related Premature Ovarian Insufficiency adds interest to the role of FMRP in ovarian physiology. The aim of the present work was to investigate the expression of Fmr1 mRNA and its protein, FMRP, at different stages of rat follicular development. By immnuhistochemical studies, we demonstrated FMRP expression in granulosa, theca and the germ cell in all stages of follicular development. In addition, changes in Fmr1 expression, both at the protein and mRNA levels, were observed. FMRP levels increased upon follicular development, while preantral and early antral follicles presented similar levels of Fmr1 transcripts, with decreased expression in preovulatory follicles. These observations suggest that Fmr1 expression in the ovary is regulated at different and perhaps independent levels. In addition, our results also show expression of at least four different isoforms of FMRP during all stages of follicular growth, with expression patterns which differ from those observed in brain and testis. Our study shows a regulated expression of Fmr1, both at mRNA and protein levels, during rat follicular development.
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4. Hoerder-Suabedissen A, Oeschger FM, Krishnan ML, Belgard TG, Wang WZ, Lee S, Webber C, Petretto E, Edwards AD, Molnar Z. {{Expression profiling of mouse subplate reveals a dynamic gene network and disease association with autism and schizophrenia}}. {Proc Natl Acad Sci U S A};2013 (Feb 11)
The subplate zone is a highly dynamic transient sector of the developing cerebral cortex that contains some of the earliest generated neurons and the first functional synapses of the cerebral cortex. Subplate cells have important functions in early establishment and maturation of thalamocortical connections, as well as in the development of inhibitory cortical circuits in sensory areas. So far no role has been identified for cells in the subplate in the mature brain and disease association of the subplate-specific genes has not been analyzed systematically. Here we present gene expression evidence for distinct roles of the mouse subplate across development as well as unique molecular markers to extend the repertoire of subplate labels. Performing systematic comparisons between different ages (embryonic days 15 and 18, postnatal day 8, and adult), we reveal the dynamic and constant features of the markers labeling subplate cells during embryonic and early postnatal development and in the adult. This can be visualized using the online database of subplate gene expression at https://molnar.dpag.ox.ac.uk/subplate/. We also identify embryonic similarities in gene expression between the ventricular zones, intermediate zone, and subplate, and distinct postnatal similarities between subplate, layer 5, and layers 2/3. The genes expressed in a subplate-specific manner at some point during development show a statistically significant enrichment for association with autism spectrum disorders and schizophrenia. Our report emphasizes the importance of the study of transient features of the developing brain to better understand neurodevelopmental disorders.
