Altered Gene Expression of Thyroid Hormone Transporters and Deiodinases in iPS MeCP2-Knockout Cells-Derived Neurons
AbstractMeCP2 is an X-linked gene; its mutation causes Rett Syndrome (RTT), a severe neurodevelopmental disability that affects mainly girls. Acting as a transcription factor, the MeCP2 protein is able to regulate several hormone-related genes, such as the thyroid hormones (TH), which are known to play an important role in the development of the central nervous system (CNS). Although only a few studies have associated RTT and TH, TH deficit can lead to neurological deregulation by triggering functional deficiencies during adulthood. Here, we used human-induced pluripotent stem cell (iPSC) to generate MeCP2-knockout neurona...
Source: Molecular Neurobiology - June 18, 2019 Category: Neurology Source Type: research

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
ConclusionThese molecular data together with the clinical information enable us to propose a genotype –phenotype correlation, which is essential for providing genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Silvia Vidal, Ainhoa Pascual ‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong Tags: ORIGINAL ARTICLE Source Type: research

From Basic Visual Science to Neurodevelopmental Disorders: The Voyage of Environmental Enrichment-Like Stimulation.
Abstract Genes and environmental stimuli cooperate in the regulation of brain development and formation of the adult neuronal architecture. Genetic alterations or exposure to perturbing environmental conditions, therefore, can lead to altered neural processes associated with neurodevelopmental disorders and brain disabilities. In this context, environmental enrichment emerged as a promising and noninvasive experimental treatment for favoring recovery of cognitive and sensory functions in different neurodevelopmental disorders. The aim of this review is to depict, mainly through the much explicative examples of amb...
Source: Neural Plasticity - June 16, 2019 Category: Neurology Authors: Consorti A, Sansevero G, Torelli C, Berardi N, Sale A Tags: Neural Plast Source Type: research

Experimental Examination and Social Validation of a Microswitch Intervention to Improve Choice-Making and Activity Engagement for Six Girls with Rett Syndrome
. (Source: Developmental Neurorehabilitation)
Source: Developmental Neurorehabilitation - June 6, 2019 Category: Neurology Authors: Fabrizio Stasolla Alessandro Oronzo Caff ò Viviana Perilli Vincenza Albano Source Type: research

Canonical Babbling: A Marker for Earlier Identification of Late Detected Developmental Disorders?
AbstractPurpose of ReviewTo summarize findings about the emergence and characteristics of canonical babbling in children with late detected developmental disorders (LDDDs), such as autism spectrum disorder, Rett syndrome, and fragile X syndrome. In particular, we ask whether infants ’ vocal development in the first year of life contains any markers that may contribute to earlier detection of these disorders.Recent FindingsOnly a handful studies have investigated canonical babbling in infants with LDDDs. With divergent research paradigms and definitions applied, findings on the onset and characteristics of canonical b...
Source: Current Developmental Disorders Reports - May 30, 2019 Category: Child Development Source Type: research

Biliary Tract Disease in Girls and Young Women With Rett Syndrome
Objective: We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT). Methods: Sixty-two individuals with RTT and biliary tract disease were identified from the membership of Rett Syndrome Organization and patient files of the principal investigator. Medical records of 46 individuals were reviewed for presenting features, diagnostic tests, and treatment outcomes of biliary tract disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes o...
Source: Journal of Pediatric Gastroenterology and Nutrition - May 24, 2019 Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research

Ventral hippocampal projections to the medial prefrontal cortex regulate social memory
Inputs from the ventral hippocampus (vHIP) to the medial prefrontal cortex (mPFC) are implicated in several neuropsychiatric disorders. Here, we show that the vHIP-mPFC projection is hyperactive in theMecp2knockout mouse model of the autism spectrum disorder Rett syndrome, which has deficits in social memory. Long-term excitation of mPFC-projecting vHIP neurons in wild-type mice impaired social memory, whereas their long-term inhibition in Rett mice rescued social memory deficits. The extent of social memory improvement was negatively correlated with vHIP-evoked responses in mPFC slices, on a mouse-per-mouse basis. Acute m...
Source: eLife - May 21, 2019 Category: Biomedical Science Tags: Neuroscience Source Type: research

PET imaging of pre-synaptic protein SV2A in Rett syndrome mouse model
Conclusions: These preliminary results reveal decreased uptake of [11C]UCB-J in the Rett syndrome mouse model are consistent with the hypothesis that the loss of Mecp2 gene may result in decreased synaptic density in the cerebral cortex. Studies are ongoing to increase the sample size that may inform future investigation into whether [11C]UCB-J imaging can serve as a valid biomarker in individuals with Rett syndrome. (Source: Journal of Nuclear Medicine)
Source: Journal of Nuclear Medicine - May 21, 2019 Category: Nuclear Medicine Authors: DiFilippo, A., Ferreira, C., Engle, J., Barnhart, T., Dong, Q., Chang, Q., Christian, B. Tags: Basic Science I (Neurosciences) Source Type: research

Rett syndrome before regression: a time window of overlooked opportunities for diagnosis and intervention
Publication date: Available online 18 May 2019Source: Neuroscience & Biobehavioral ReviewsAuthor(s): Livia Cosentino, Daniele Vigli, Francesca Franchi, Giovanni Laviola, Bianca De FilippisAbstractRett syndrome (RTT) is a rare neurological disorder primarily affecting females, causing severe cognitive, social, motor and physiological impairments for which no cure currently exists. RTT clinical diagnosis is based on the peculiar progression of the disease, since patients show an apparently normal initial development with a subsequent sudden regression at around 2 years of age. Accumulating evidences are rising doubts reg...
Source: Neuroscience and Biobehavioral Reviews - May 18, 2019 Category: Neuroscience Source Type: research

Cover Image
The cover image is based on the Original ArticleA clinical case ‐control comparison of epidermal innervation density in Rett syndrome by Frank J. Symons et al., DOI:10.1002/brb3.1285. (Source: Brain and Behavior)
Source: Brain and Behavior - May 15, 2019 Category: Neurology Authors: Frank J. Symons, Chantel C. Barney, Breanne J. Byiers, Brian D. McAdams, Shawn X. Y. L. Foster, Timothy J. Feyma, Gwen Wendelschafer ‐Crabb, William R. Kennedy Tags: COVER IMAGE Source Type: research

Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome.
CONCLUSION: This is the first study to identify QOL domains important for adults with RTT. Health and therapy needs are ongoing during adulthood but services may be limited. Findings will guide choice of an appropriate QOL measure for this group. IMPLICATIONS FOR REHABILITATION Knowing the important domains of quality of life enables clinicians and service providers to systematically review and address key management issues. Despite a high level of dependency and sometimes poor health, parent caregivers perceive potential for strong quality of life in adulthood. Services that maintain functional skills and health throughou...
Source: Disability and Rehabilitation - May 10, 2019 Category: Rehabilitation Authors: Strugnell A, Leonard H, Epstein A, Downs J Tags: Disabil Rehabil Source Type: research

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
Abstract Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. Here, we attempted to identify other monogenic disorders that share features of RTT. A total of 437 patients with a clinical diagnosis of RTT-like were studied; in 242 patients, a custom panel with 17 genes related to an RTT-like phenotype was run via a HaloPlex-Target-Enrichment-System. In the remaining 195 patients, a commercial TruSight-One-Sequen...
Source: European Journal of Paediatric Neurology - May 2, 2019 Category: Neurology Authors: Vidal S, Brandi N, Pacheco P, Maynou J, Fernandez G, Xiol C, Pascual-Alonso A, Pineda M, Rett Working Group, Armstrong J Tags: Eur J Paediatr Neurol Source Type: research

Tapping-lips aggravated interictal bilateral discharges in EEG in the patients with Rett syndrome: a case report
Rett syndrome (RTT) is a severe neurodevelopmental disorder mainly affecting females. One of the main clinical manifestations is hand stereotypies, which is presumed to based on dysfunction rather than on stru... (Source: BMC Neurology)
Source: BMC Neurology - May 1, 2019 Category: Neurology Authors: Xiaoqing Luo, Cheng Li, Xiaolu Wang, Xiaoli Yu and Jun Jiang Tags: Case report Source Type: research

Transcriptomic Analysis of Mecp2 Mutant Mice Reveals Differentially Expressed Genes and Altered Mechanisms in Both Blood and Brain
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - April 30, 2019 Category: Psychiatry Source Type: research

Neuronal Redox-Imbalance in Rett Syndrome Affects Mitochondria as Well as Cytosol, and Is Accompanied by Intensified Mitochondrial O2 Consumption and ROS Release
In conclusion, we further advanced the molecular understanding of mitochondrial dysfunction in RTT. Intensified mitochondrial O2 consumption, increased mitochondrial ROS generation and disturbed redox balance in mitochondria and cytosol may represent a causal chain, which provokes dysregulated proteins, oxidative tissue damage, and contributes to neuronal network dysfunction in RTT. Introduction Rett syndrome (RTT) is a progressive neurodevelopmental disorder. It primarily affects females, who show the first obvious symptoms within 6–18 months after birth. Among the characteristics are a regression of mental ...
Source: Frontiers in Physiology - April 30, 2019 Category: Physiology Source Type: research

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes
. (Source: World Journal of Biological Psychiatry)
Source: World Journal of Biological Psychiatry - April 29, 2019 Category: Psychiatry Authors: Friederike Ehrhart Susan L. Coort Lars Eijssen Elisa Cirillo Eric E. Smeets Nasim Bahram Sangani Chris T. Evelo Leopold M.G. Curfs Source Type: research

A clinical case –control comparison of epidermal innervation density in Rett syndrome
ConclusionsGiven the clinical phenotype of disrupted sensory function along with diagnostic criteria specific to cold hands/feet and insensitivity to pain, our preliminary observations of ENF peptidergic fiber density differences warrants further investigation of the peripheral neurobiology in RTT. (Source: Brain and Behavior)
Source: Brain and Behavior - April 13, 2019 Category: Neurology Authors: Frank J. Symons, Chantel C. Barney, Breanne J. Byiers, Brian D. McAdams, Shawn X. Y. L. Foster, Timothy J. Feyma, Gwen Wendelschafer ‐Crabb, William R. Kennedy Tags: ORIGINAL RESEARCH Source Type: research

Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome
Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome, Published online: 09 April 2019; doi:10.1038/s41398-019-0463-0Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome (Source: Translational Psychiatry)
Source: Translational Psychiatry - April 9, 2019 Category: Psychiatry Authors: Tufikameni Brima Sophie Molholm Ciara J. Molloy Olga V. Sysoeva Eric Nicholas Aleksandra Djukic Edward G. Freedman John J. Foxe Source Type: research

In a Randomized Trial, Trofinetide Ameliorates Symptoms in Pediatric Rett Syndrome
No abstract available (Source: Neurology Today)
Source: Neurology Today - April 4, 2019 Category: Neurology Tags: In the Pipeline Source Type: research

Epilepsy and genetic in Rett syndrome: A review
ConclusionsRecognizing clinical and EEG patterns in different RTT variants may be useful in diagnosis and management of these patients. (Source: Brain and Behavior)
Source: Brain and Behavior - March 30, 2019 Category: Neurology Authors: Francesca Felicia Operto, Roberta Mazza, Grazia Maria Giovanna Pastorino, Alberto Verrotti, Giangennaro Coppola Tags: ORIGINAL RESEARCH Source Type: research

Lack of MeCP2 leads to region-specific increase of doublecortin in the olfactory system
AbstractThe protein doublecortin is mainly expressed in migrating neuroblasts and immature neurons. The X-linked geneMECP2, associated to several neurodevelopmental disorders such as Rett syndrome, encodes the protein methyl-CpG-binding protein 2 (MeCP2), a regulatory protein that has been implicated in neuronal maturation and refinement of olfactory circuits. Here, we explored doublecortin immunoreactivity in the brain of young adult femaleMecp2-heterozygous and maleMecp2-null mice and their wild-type littermates. The distribution of doublecortin-immunoreactive somata in neurogenic brain regions was consistent with previo...
Source: Anatomy and Embryology - March 28, 2019 Category: Anatomy Source Type: research

Lack of MeCP2 leads to region-specific increase of doublecortin in the olfactory system.
nuza E, Santos M, Agustín-Pavón C Abstract The protein doublecortin is mainly expressed in migrating neuroblasts and immature neurons. The X-linked gene MECP2, associated to several neurodevelopmental disorders such as Rett syndrome, encodes the protein methyl-CpG-binding protein 2 (MeCP2), a regulatory protein that has been implicated in neuronal maturation and refinement of olfactory circuits. Here, we explored doublecortin immunoreactivity in the brain of young adult female Mecp2-heterozygous and male Mecp2-null mice and their wild-type littermates. The distribution of doublecortin-immunoreactive ...
Source: Brain Structure and Function - March 28, 2019 Category: Neuroscience Authors: Martínez-Rodríguez E, Martín-Sánchez A, Coviello S, Foiani C, Kul E, Stork O, Martínez-García F, Nacher J, Lanuza E, Santos M, Agustín-Pavón C Tags: Brain Struct Funct Source Type: research

Management of Self ‐injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview
Neurodevelopmental disorders (NDDs), a group of disorders affecting ~1 –2% of the general population, are caused by changes in brain development that result in behavioral and cognitive alterations, sensory and motor changes, and speech and language deficits. Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith ‐Magenis syndrome, Lesch‐Nyhan disease, cri du chat syndrome, Prader‐Willi syndrome, pervasive developmental disorders, fragile X syndrome, Rett syndrome, Cornelia de Lange syndrome, and Down syndrome. Self‐injurious behaviors (SIBs) are common i...
Source: Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy - March 27, 2019 Category: Drugs & Pharmacology Authors: Ashley Sabus, James Feinstein, Patrick Romani, Edward Goldson, Allison Blackmer Tags: SI on Neurodevelopmental Disorders Source Type: research

Reduced computational modeling of K ölliker-Fuse contributions to breathing patterns in Rett syndrome.
This article is protected by copyright. All rights reserved ABSTRACT: Rett syndrome (RTT) is a developmental disorder that can lead to respiratory disturbances featuring prolonged apneas of variable durations. Determining the mechanisms underlying these effects at the level of respiratory neural circuits would have significant implications for treatment efforts and would also enhance our understanding of respiratory rhythm generation and control. While experimental studies have suggested possible factors contributing to the respiratory patterns of RTT, we take a novel computational approach to the investigation of RTT, whi...
Source: The Journal of Physiology - March 25, 2019 Category: Physiology Authors: Wittman S, Abdala AP, Rubin JE Tags: J Physiol Source Type: research

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes.
CONCLUSION: Integrative analysis of omics data and prior knowledge databases is a powerful approach to identify links between mutation and phenotype especially in rare disease research where little data is available. PMID: 30907210 [PubMed - as supplied by publisher] (Source: The World Journal of Biological Psychiatry)
Source: The World Journal of Biological Psychiatry - March 25, 2019 Category: Psychiatry Authors: Ehrhart F, Coort SL, Eijssen L, Cirillo E, Smeets EE, Bahram Sangani N, Evelo CT, Curfs LMG Tags: World J Biol Psychiatry Source Type: research

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes
. (Source: World Journal of Biological Psychiatry)
Source: World Journal of Biological Psychiatry - March 25, 2019 Category: Psychiatry Authors: Friederike Ehrhart Susan L. Coort Lars Eijssen Elisa Cirillo Eric E. Smeets Nasim Bahram Sangani Chris T. Evelo Leopold M.G. Curfs Source Type: research

A Coordinated Attack: Rett Syndrome Therapeutic Development
Publication date: April 2019Source: Trends in Pharmacological Sciences, Volume 40, Issue 4Author(s): Rocco G. Gogliotti, Colleen M. NiswenderRett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MeCP2) gene. This Science & Society article focuses on pharmacological strategies that attack RTT treatment from multiple angles, including drug repurposing and de novo discovery efforts, and discusses the impacts of preclinical study design and translationally relevant outcome measures. (Source: Trends in Pharmacological Sciences)
Source: Trends in Pharmacological Sciences - March 22, 2019 Category: Drugs & Pharmacology Source Type: research

A new scale to evaluate motor function in Rett syndrome: validation and psychometric properties
We aim to describe and psychometrically validate the Rett Syndrome Motor Evaluation Scale (RESMES), a 25-item ordinal scale examining (loco-)motor function across six sections: standing, sitting, transitions, walking, running, walking up/downstairs. (Source: Pediatric Neurology)
Source: Pediatric Neurology - March 15, 2019 Category: Neurology Authors: Marina Luisa Rodocanachi Roidi, Ioannis Ugo Isaias, Francesca Cozzi, Francesca Grange, Fabrizia Maria Scotti, Valentina Francesca Gestra, Alessandra Gandini, Enrico Ripamonti Tags: Research Paper Source Type: research

Retraction Notice to: A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos
(Molecular Cell 12, 425 –435; August, 2003) (Source: Molecular Cell)
Source: Molecular Cell - March 7, 2019 Category: Cytology Authors: Irina Stancheva, Anne L. Collins, Ingatia B. Van den Veyver, Huda Zoghbi, Richard R. Meehan Tags: Retraction Source Type: research

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female
ConclusionThe major inhibitory neurotransmitter, γ‐aminobutyric acid (GABA), is increased in SSADHD but normal in RTT, although there are likely regional changes in GABA receptor distribution. GABAergic anomalies occur in both disorders, each featuring an autism spectrum phenotype. What effect the SSADHD biochemical anomalies (elevated GABA, GH B) might play in the neurodevelopmental/epileptic phenotype of our patient is currently unknown. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Madalyn Brown, Paula Ashcraft, Erland Arning, Teodoro Bottiglieri, William McClintock, Frank Giancola, David Lieberman, Natalie S. Hauser, Rebecca Miller, Jean ‐Baptiste Roullet, Phillip Pearl, K. Michael Gibson Tags: ORIGINAL ARTICLE Source Type: research

Attention measures of patients with Rett Syndrome need to overcome the challenges in evaluating the oculomotor function using electronystagmography.
PMID: 30876649 [PubMed - in process] (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 1, 2019 Category: Neurology Authors: Fabio RA Tags: Eur J Paediatr Neurol Source Type: research

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure
ConclusionsInitial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability. It has the potential to allow clearer identification of support needs and measure responsiveness to interventions. (Source: Quality of Life Research)
Source: Quality of Life Research - February 22, 2019 Category: Health Management Source Type: research

Management of Self ‐Injurious Behaviors in Children with Neurodevelopmental Disorders—A Pharmacotherapy Overview
This article is protected by copyright. All rights reserved. (Source: Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy)
Source: Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy - February 22, 2019 Category: Drugs & Pharmacology Authors: Ashley Sabus, James Feinstein, Patrick Romani, Edward Goldson, Allison Blackmer Tags: SI on Neurodevelopmental Disorders Source Type: research

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome
Ryan A. Miller, Friederike Ehrhart, Lars M. T. Eijssen, Denise N. Slenter, Leopold M. G. Curfs, Chris T. Evelo, Egon L. Willighagen, Martina Kutmon (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 21, 2019 Category: Genetics & Stem Cells Source Type: research

Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort, Published online: 20 February 2019; doi:10.1038/s41436-019-0461-xCorrection: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 20, 2019 Category: Genetics & Stem Cells Authors: Qingping Zhang Xiaoxu Yang Jiaping Wang Jiarui Li Qixi Wu Yongxin Wen Ying Zhao Xiaoying Zhang He Yao Xiru Wu Shujie Yu Liping Wei Xinhua Bao Source Type: research

Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome.
This article is protected by copyright. All rights reserved. PMID: 30788845 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - February 20, 2019 Category: Genetics & Stem Cells Authors: Peters SU, Fu C, Suter B, Marsh E, Benke TA, Skinner SA, Lieberman DN, Standridge S, Jones M, Beisang A, Feyma T, Heydeman P, Ryther R, Kaufmann WE, Glaze DG, Neul JL, Percy AK Tags: Clin Genet Source Type: research

How reconstructive surgery combined with physiotherapy for a painful nontraumatic patellar dislocation enabled a woman with Rett syndrome to become pain free and remain physically active: A case report
The effects of orthopedic measures, with the exception of scoliosis surgery, are rarely described in individuals with Rett syndrome. In this case, treating a painful dislocation of the patella with combined orthopedic and physiotherapeutic measures enabled a woman with Rett syndrome to become pain free and remain physically active. Key Clinical MessageThe effects of orthopedic measures, with the exception of scoliosis surgery, are rarely described in individuals with Rett syndrome. In this case, treating a painful dislocation of the patella with combined orthopedic and physiotherapeutic measures enabled a woman with Rett s...
Source: Clinical Case Reports - February 7, 2019 Category: General Medicine Authors: Lena Svedberg, Bengt Herngren, Piotr Michno Tags: CASE REPORT Source Type: research

Attentional shifting and disengagement in Rett syndrome.
Objective: The purpose of the present study was to deepen our understanding of attention (a core cognitive ability) in Rett syndrome (RTT), an x-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. We focused on 2 key aspects of visual orienting—shifting and disengaging attention—both of which are critical for exploring the visual world. We used gaze-based measures and eye-tracking technology to minimize demands on the limited verbal and motor abilities associated with RTT. Method: Shifting and disengaging attention were examined in 31 children (2–12 years) with Rett Syndrome (RTT) an...
Source: Neuropsychology - January 28, 2019 Category: Neurology Source Type: research

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10 ‐year period
ConclusionThe large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with ade novo mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2019 Category: Genetics & Stem Cells Authors: Ori Eyal, Michal Berkenstadt, Haike Reznik ‐Wolf, Hana Poran, Tomer Ziv‐Baran, Lior Greenbaum, Hagit Yonath, Elon Pras Tags: ORIGINAL ARTICLE Source Type: research

Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation.
We present quantitative surface- and voxel-based morphological measurements in young children with RTT and Rett-like syndrome (RTT-l) with MECP2 mutations. The 8 structural T1-weighted MR images were obtained from 7 female patients with MECP2 mutations (3 classic RTT, 2 variant RTT, and 2 RTT-l) (mean age 5.2 [standard deviation 3.3] years old). Our analyses demonstrated decreased total volumes of the cerebellum in RTT/RTT-l compared to gender- and age-matched controls (t (22)=-2.93, p = .008, Cohen's d = 1.27). In contrast, global cerebral cortical surface areas, global/regional cortical thickn...
Source: International Journal of Developmental Neuroscience - January 25, 2019 Category: Neuroscience Authors: Shiohama T, Levman J, Takahashi E Tags: Int J Dev Neurosci Source Type: research

Rett syndrome: Teenagers' and young adults' activities, usage of time and responses during an ordinary week - a diary study.
CONCLUSIONS: Daily and medical health care activities were time consuming. Improved communication between all parties may increase participation and well-being and provide solutions for handling unpleasant activities and sedentary time. SIGNIFICANCE: A more varied range of activities may improve the everyday life for individuals with Rett syndrome. PMID: 30663472 [PubMed - as supplied by publisher] (Source: Scandinavian Journal of Occupational Therapy)
Source: Scandinavian Journal of Occupational Therapy - January 23, 2019 Category: Occupational Health Tags: Scand J Occup Ther Source Type: research

P152R Mutation Within MeCP2 Can Cause Loss of DNA-Binding Selectivity
AbstractMeCP2 is a protein highly expressed in the brain that participates in the genetic expression and RNA splicing regulation. MeCP2 binds preferably to methylated DNA and other nuclear corepressors to alter chromatin. MECP2 gene mutations can cause rett syndrome (RTT), a severe neurological disorder that affects around one in ten thousand girls. In this paper, Molecular Dynamics (MD) simulations were performed to scrutinize how the MeCP2 P152R mutation influences the protein binding to DNA. Also, the Umbrella Sampling technique was used to obtain the potential mean forces (PMFs) of both wild-type and mutated MeCP2 Meth...
Source: Interdisciplinary Sciences, Computational Life Sciences - January 23, 2019 Category: Bioinformatics Source Type: research

The effectiveness of music therapy for individuals with Rett syndrome and their families
ConclusionThe 24-week music therapy program was effective in improving social interaction, communication skills, eye contact, hand function, and reducing seizure frequency among RTT patients. Additionally, music therapy was effective in relieving parenting stress, which may help healthcare providers initiate early intervention strategies that can prevent parenting stress and reduce the risk of depression. (Source: Journal of the Formosan Medical Association)
Source: Journal of the Formosan Medical Association - January 20, 2019 Category: General Medicine Source Type: research

The effectiveness of music therapy for individuals with Rett syndrome and their families.
CONCLUSION: The 24-week music therapy program was effective in improving social interaction, communication skills, eye contact, hand function, and reducing seizure frequency among RTT patients. Additionally, music therapy was effective in relieving parenting stress, which may help healthcare providers initiate early intervention strategies that can prevent parenting stress and reduce the risk of depression. PMID: 30670340 [PubMed - as supplied by publisher] (Source: J Formos Med Assoc)
Source: J Formos Med Assoc - January 19, 2019 Category: General Medicine Authors: Chou MY, Chang NW, Chen C, Lee WT, Hsin YJ, Siu KK, Chen CJ, Wang LJ, Hung PL Tags: J Formos Med Assoc Source Type: research

De novo mosaic MECP2 mutation in a female with Rett syndrome
We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation onMECP2 gene, with random X ‐chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X‐chromosome inactivation, epigenetics and environment. Rett syndrome should be considered in both males and females. Key Clinical MessageWe describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation onMECP2 gene, with random X ‐chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X‐chromosome inactivation, e...
Source: Clinical Case Reports - January 15, 2019 Category: General Medicine Authors: Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, Athina Theodosiou, Paola Evangelidou, Ludmila Kousoulidou, George Tanteles, Violetta Christophidou ‐Anastasiadou, Carolina Sismani Tags: CASE REPORT Source Type: research

Disturbed redox homeostasis and oxidative stress: Potential players in the developmental regression in Rett syndrome
Publication date: Available online 9 January 2019Source: Neuroscience & Biobehavioral ReviewsAuthor(s): Michael MüllerAbstractRett syndrome (RTT) is a neurodevelopmental disorder affecting mostly girls. A seemingly normal initial development is followed by developmental stagnation and regression, leading to severe mental impairment with autistic features, motor dysfunction, irregular breathing and epilepsy. Currently, a cure does not exist. Due to the close association of RTT with mitochondrial alterations, cellular redox-impairment and oxidative stress, compounds stabilizing mitochondrial function, cellular redox...
Source: Neuroscience and Biobehavioral Reviews - January 10, 2019 Category: Neuroscience Source Type: research

The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical Implications
ConclusionsBTX treatment for sialorrhea in RS is effective in reducing saliva production and may also improve oral motor functions. (Source: Neurology and Therapy)
Source: Neurology and Therapy - January 8, 2019 Category: Neurology Source Type: research