A meta-review of standard polysomnography parameters in Rett Syndrome
Rett Syndrome (RTT, OMIM 312750), a unique rare neurodevelopmental disorder, mostly affects females and causes severe multi-disabilities including poor sleep. This meta-analysis systematically reviewed the polysomnographic (PSG) data of individuals with RTT on both sleep macrostructure and sleep respiratory indexes and compared them to literature normative values. Studies were collected from PubMed, Web of Science, PsycINFO, Ebsco, Scopus, and Cochrane Library till 26 April 2022. Across 13 included studies, the 134 selected RTT cases were mostly females being MECP2 (n = 41) and CDKL5 (n = 4) positive. They were further str...
Source: Frontiers in Neurology - September 20, 2022 Category: Neurology Source Type: research
Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale
Rett Syndrome (RTT) is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - September 14, 2022 Category: Internal Medicine Authors: Rosa Angela Fabio, Liliana Chiarini and Virginia Canegallo Tags: Research Source Type: research
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome
ConclusionsThus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - September 7, 2022 Category: Pediatrics Source Type: research
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome
Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - September 7, 2022 Category: Pediatrics Authors: Sergio Ghirardo, Letizia Sabatini, Alessandro Onofri, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Daria Diodato, Lorena Travaglini, Fabrizia Stregapede, Marta Luisa Ciofi degli Atti, Claudio Cherchi and Renato Cutrera Tags: Case report Source Type: research
MeCP2 deficiency impairs motor cortical circuit flexibility associated with motor learning
Loss of function mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MECP2) cause Rett syndrome (RTT), a postnatal neurological disorder. The loss of motor function is an important clinical f... (Source: Molecular Brain)
Source: Molecular Brain - September 5, 2022 Category: Neuroscience Authors: Yuanlei Yue, Ryan T. Ash, Natalie Boyle, Anna Kinter, Yipeng Li, Chen Zeng and Hui Lu Tags: Research Source Type: research
Structural and functional changes in the brains of patients with Rett syndrome: A multimodal MRI study
To clarify the relationship between structural and functional changes in the brains of patients with Rett syndrome (RTT) using multimodal magnetic resonance imaging (MRI). (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - August 18, 2022 Category: Neurology Authors: Ryo Takeguchi, Mami Kuroda, Ryosuke Tanaka, Nao Suzuki, Yuichi Akaba, Keita Tsujimura, Masayuki Itoh, Satoru Takahashi Source Type: research
Nordic treatment guidelines for rare epileptic conditions: A literature review
ConclusionComprehensive, consensus-based treatment guidance developed via international collaboration within the Nordics region is necessary to optimize patient care in these five rare epileptic conditions. (Source: Brain and Behavior)
Source: Brain and Behavior - July 1, 2022 Category: Neurology Authors: Kishan Vyas,
Hannah Luedke,
Benjamin Ruban ‐Fell Tags: REVIEW Source Type: research
GSE201891 MECP2-related pathways are dysregulated in a cortical organoid model of Myotonic dystrophy [scRNA-Seq]
Contributors : Wenhao Jin ; Kathryn MorelliSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAs cortical organoids consist of a heterogeneous population of cell-types, 6-month-old DM1 and Rett syndrome cortical organoids were subjected to single cell RNA-seq (scRNA-seq) analysis to determine which cell type(s) CELF2 ’s RNA targets are expressed in. Unsupervised clustering was implemented on the combined dataset of 8595 cells from control, DM600, and DM1200 cortical organoids that consisted of ~2865 cells per organoid line and ~17,575 reads per cell to identify genotype-specific clu...
Source: GEO: Gene Expression Omnibus - June 30, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
EE428 Healthcare Resource Utilization Patterns in United States Patients with Rett Syndrome
This study described the healthcare resource utilization (HRU) of female patients with RTT in the United States (US). (Source: Value in Health)
Source: Value in Health - June 26, 2022 Category: International Medicine & Public Health Authors: D May, K Kponee-Shovein, M Mahendran, N Downes, K Sheng, P Lefebvre, WY Cheng Source Type: research
Monogenetic causes of psychiatric disorders: a review
CONCLUSION: Given the multisystem nature of these genetic disorders, a well-coordinated, multidisciplinary approach by specialized expert centers is highly recommended.PMID:35735039 (Source: Tijdschrift voor Psychiatrie)
Source: Tijdschrift voor Psychiatrie - June 23, 2022 Category: Psychiatry Authors: T A M J van Amelsvoort A Swillen Source Type: research
Outcome measurement instruments in Rett syndrome: A systematic review
CONCLUSIONS: The findings of this study seem to be promising for their use by clinicians and researchers, although they have methodological limitations. The accuracy and quality of these individual outcome measures should continue to be assessed in an attempt to gather a consensus on the best tools used in RS.PMID:35717810 | DOI:10.1016/j.ejpn.2022.06.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 19, 2022 Category: Neurology Authors: R P Romero-Galisteo M Gonz ález-Sánchez L Costa R Brand ão C Ramalhete C Le ão L Jacobsohn Source Type: research
Outcome measurement instruments in Rett syndrome: A systematic review
CONCLUSIONS: The findings of this study seem to be promising for their use by clinicians and researchers, although they have methodological limitations. The accuracy and quality of these individual outcome measures should continue to be assessed in an attempt to gather a consensus on the best tools used in RS.PMID:35717810 | DOI:10.1016/j.ejpn.2022.06.003 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - June 19, 2022 Category: Neurology Authors: R P Romero-Galisteo M Gonz ález-Sánchez L Costa R Brand ão C Ramalhete C Le ão L Jacobsohn Source Type: research
Behavioral Phenotypes of Foxg1 Heterozygous Mice
FOXG1 syndrome (FS, aka a congenital variant of Rett syndrome) is a recently defined rare and devastating neurodevelopmental disorder characterized by various symptoms, including severe intellectual disability, autistic features, involuntary, and continuous jerky movements, feeding problems, sleep disturbances, seizures, irritability, and excessive crying. FS results from mutations in a single allele of the FOXG1 gene, leading to impaired FOXG1 function. Therefore, in establishing mouse models for FS, it is important to test if heterozygous (HET) mutation in the Foxg1 gene, mimicking genotypes of the human FS individuals, ...
Source: Frontiers in Pharmacology - June 8, 2022 Category: Drugs & Pharmacology Source Type: research
Clinical and Preclinical Evidence for M1 Muscarinic Acetylcholine Receptor Potentiation as a Therapeutic Approach for Rett Syndrome
SummaryRett syndrome (RTT) is a neurodevelopmental disorder that is characterized by developmental regression, loss of communicative ability, stereotyped hand wringing, cognitive impairment, and central apneas, among many other symptoms. RTT is caused by loss-of-function mutations in a methyl-reader known as methyl-CpG-binding protein 2 (MeCP2), a protein that links epigenetic changes on DNA to larger chromatin structure. Historically, target identification for RTT has relied heavily onMecp2 knockout mice; however, we recently adopted the alternative approach of performing transcriptional profiling in autopsy samples from ...
Source: Neurotherapeutics - June 7, 2022 Category: Neurology Source Type: research
