Sustained attention in the face of distractors: a study of children with Rett syndrome - Rose SA, Wass S, Jankowski JJ, Feldman JF, Djukic A.

OBJECTIVE: The object of the present study is to advance our understanding of the cognitive profile of Rett syndrome (RTT), an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. We focus on sustained attention, which plays a critic...
Source: SafetyLit - Category: Global & Universal Tags: Age: Infants and Children Source Type: news

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Abstract Cyclin-dependent kinase-like 5 (CDKL5, also known as STK9) is a serine/threonine protein kinase originally identified in 1998 during a transcriptional mapping project of the human X chromosome. Thereafter, a mutation in CDKL5 was reported in individuals with the atypical Rett syndrome, a neurodevelopmental disorder, suggesting that CDKL5 plays an important regulatory role in neuronal function. The disease associated with CDKL5 mutation has recently been recognised as CDKL5 deficiency disorder (CDD) and has been distinguished from the Rett syndrome owing to its symptomatic manifestation. Because CDKL5 muta...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
Domingo Palacios-Ceña Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources. A qualitative case study was conducted among 31 parents of children with Rett syndrome. Data were collected through in-depth interviews, focus groups, researchers’ field notes and parents’ personal documents. A thematic analysis was performed and the Standards for Reporting Qualitative Research (SRQR) guidelines were followed...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
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Source: Pediatric Neurology - Category: Neurology Authors: Source Type: research
In the face of clinical and ethical obligations to improve quality of life for individuals with Rett syndrome (RTT), much research remains focused on functional impairments, despite RTT-specific domains of quality of life having recently been identified (12). The recent study by (5) critiques the design of the Rett Syndrome Behavioural Questionnaire (RSBQ) (8), its items, scales, domains and how these relate to clinical presentations of patients. The commentary in response from (9) is a critique of the sample used by (5) in their justification of refuting the RSBQ.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Opinion Paper Source Type: research
Contributors : Yangfei Xiang ; Yoshiaki Tanaka ; Eriona Hysolli ; In-Hyun ParkSeries Type : Methylation profiling by high throughput sequencingOrganism : Homo sapiensRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MeCP2). Cellular heterogeneity in the brain confounds the understanding of RTT etiology. To date, how MeCP2 mutation affects defined cell types in human brain remains unclear, and effective therapeutics for RTT is lacking. Here we show that cell-type-specific transcriptome impairment and JQ1-mediated rescue in RTT cells from dorsal and ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Methylation profiling by high throughput sequencing Homo sapiens Source Type: research
Series Type : Genome binding/occupancy profiling by high throughput sequencing ; Other ; Expression profiling by high throughput sequencing ; Methylation profiling by high throughput sequencingOrganism : Homo sapiensThis SuperSeries is composed of the SubSeries listed below.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Other Expression profiling by high throughput sequencing Methylation profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Yangfei Xiang ; Yoshiaki Tanaka ; Benjamin Patterson ; In-Hyun ParkSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MeCP2). Cellular heterogeneity in the brain confounds the understanding of RTT etiology. To date, how MeCP2 mutation affects defined cell types in human brain remains unclear, and effective therapeutics for RTT is lacking. Here we show that cell-type-specific transcriptome impairment and JQ1-mediated rescue in RTT cells from dorsal a...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Yangfei Xiang ; Yoshiaki Tanaka ; In-Hyun ParkSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MeCP2). Cellular heterogeneity in the brain confounds the understanding of RTT etiology. To date, how MeCP2 mutation affects defined cell types in human brain remains unclear, and effective therapeutics for RTT is lacking. Here we show that cell-type-specific transcriptome impairment and JQ1-mediated rescue in RTT cells from dorsal and ventral human fore...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Contributors : Yangfei Xiang ; Yoshiaki Tanaka ; Benjamin Patterson ; In-Hyun ParkSeries Type : OtherOrganism : Homo sapiensRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MeCP2). Cellular heterogeneity in the brain confounds the understanding of RTT etiology. To date, how MeCP2 mutation affects defined cell types in human brain remains unclear, and effective therapeutics for RTT is lacking. Here we show that cell-type-specific transcriptome impairment and JQ1-mediated rescue in RTT cells from dorsal and ventral human forebrain organoids. We find...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Other Homo sapiens Source Type: research
Contributors : Yangfei Xiang ; Yoshiaki Tanaka ; In-Hyun ParkSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiensRett syndrome (RTT) is a severe X-linked neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MeCP2). Cellular heterogeneity in the brain confounds the understanding of RTT etiology. To date, how MeCP2 mutation affects defined cell types in human brain remains unclear, and effective therapeutics for RTT is lacking. Here we show that cell-type-specific transcriptome impairment and JQ1-mediated rescue in RTT cells from dorsal and vent...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Source Type: research
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