Adolescents with Rett syndrome at critical care pathway junctures: Examining clinicians' decision to initiate invasive long-term ventilation
CONCLUSION: As the rights of those with disabilities improve and participation of adolescents in decision-making becomes more established, effective communications with the family around goals of care and particular sensitivity and reflective practice around methods of consensus building will likely contribute to a positive decision-making process at this difficult time.PMID:38484415 | DOI:10.1016/j.ejpn.2024.02.015 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 14, 2024 Category: Neurology Authors: Mary Brigid Quirke Denise Alexander Lorna Cassidy Cathal Walsh Kate Masterson Katie Hill Maria Brenner Source Type: research
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
We report on a new caregiver-reported outcome measure, the Rett Caregiver Assessment of Symptom Severity (RCASS). Using data from the Rett Natural History Study (n = 649), we examined the factor structure, using both exploratory and confirmatory factor analysis, and the reliability and validity of the RCASS. The four-factor model had the best overall fit, which covered movement, communication, behavior, and Rett-specific symptoms. The RCASS had moderate internal consistency. Strong face validity was found with age and mutation type, and convergent validity was established with other similar measures, including the Revised ...
Source: Journal of Autism and Developmental Disorders - March 4, 2024 Category: Psychiatry Authors: Melissa Raspa Angela Gwaltney Carla Bann Jana von Hehn Timothy A Benke Eric D Marsh Sarika U Peters Amitha Ananth Alan K Percy Jeffrey L Neul Source Type: research
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations
J Mol Med (Berl). 2024 Mar 2. doi: 10.1007/s00109-024-02436-6. Online ahead of print.ABSTRACTRett syndrome (RTT) is a neurodevelopmental disorder resulting from genetic mutations in the methyl CpG binding protein 2 (MeCP2) gene. Specifically, around 35% of RTT patients harbor premature termination codons (PTCs) within the MeCP2 gene due to nonsense mutations. A promising therapeutic avenue for these individuals involves the use of aminoglycosides, which stimulate translational readthrough (TR) by causing stop codons to be interpreted as sense codons. However, the effectiveness of this treatment depends on several factors, ...
Source: Molecular Medicine - March 2, 2024 Category: Molecular Biology Authors: Dennis Lebeda Adrian Fierenz Lina Werfel Rina Rosin-Arbesfeld Julia Hofhuis Sven Thoms Source Type: research
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations
J Mol Med (Berl). 2024 Mar 2. doi: 10.1007/s00109-024-02436-6. Online ahead of print.ABSTRACTRett syndrome (RTT) is a neurodevelopmental disorder resulting from genetic mutations in the methyl CpG binding protein 2 (MeCP2) gene. Specifically, around 35% of RTT patients harbor premature termination codons (PTCs) within the MeCP2 gene due to nonsense mutations. A promising therapeutic avenue for these individuals involves the use of aminoglycosides, which stimulate translational readthrough (TR) by causing stop codons to be interpreted as sense codons. However, the effectiveness of this treatment depends on several factors, ...
Source: Molecular Medicine - March 2, 2024 Category: Molecular Biology Authors: Dennis Lebeda Adrian Fierenz Lina Werfel Rina Rosin-Arbesfeld Julia Hofhuis Sven Thoms Source Type: research
Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations
AbstractRett syndrome (RTT) is a neurodevelopmental disorder resulting from genetic mutations in themethyl CpG binding protein 2 (MeCP2) gene. Specifically, around 35% of RTT patients harbor premature termination codons (PTCs) within theMeCP2 gene due to nonsense mutations. A promising therapeutic avenue for these individuals involves the use of aminoglycosides, which stimulate translational readthrough (TR) by causing stop codons to be interpreted as sense codons. However, the effectiveness of this treatment depends on several factors, including the type of stop codon and the surrounding nucleotides, collectively referred...
Source: Journal of Molecular Medicine - March 2, 2024 Category: Molecular Biology Source Type: research
The Alpha-Synuclein Gene (SNCA) is a Genomic Target of Methyl-CpG Binding Protein 2 (MeCP2) —Implications for Parkinson’s Disease and Rett Syndrome
This study demonstrates that methylation of CpGs and binding of MeCP2 to intron 1 of theSNCA gene plays an important role in the control of a-syn expression. In addition, the changes inSNCA regulation found by expression of MeCP2 variants carrying mutations found in RTT patients may be of importance for the elucidation of a new molecular pathway in RTT, a rare neurological disorder caused by mutations inMECP2. (Source: Molecular Neurobiology)
Source: Molecular Neurobiology - March 2, 2024 Category: Neurology Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.TRIAL REGISTRATION: Not applicable.PMID:38409029 | PMC:PMC10895812 | DOI:10.1186/s13023-023-02994-x (Source: Epilepsy Curr)
Source: Epilepsy Curr - February 26, 2024 Category: Neurology Authors: S Amin B Ruban-Fell I Newell J Evans K Vyas C Nortvedt R F Chin Source Type: research
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessita... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 26, 2024 Category: Internal Medicine Authors: S. Amin, B. Ruban-Fell, I. Newell, J. Evans, K. Vyas, C. Nortvedt and R. F. Chin Tags: Review Source Type: research
Genes, Vol. 15, Pages 287: Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A two-Center Observational Study
In conclusion, our data highlighted that endocrinopathies are not rare in RTT, especially in patients with MeCP2 deletions. Therefore, in the context of a multidisciplinary approach, endocrinological evaluation should be recommended for RTT patients. (Source: Genes)
Source: Genes - February 24, 2024 Category: Genetics & Stem Cells Authors: Giorgia Pepe Roberto Coco Domenico Corica Gabriella Di Di Rosa Filip Bossowski Magdalena Skorupska Tommaso Aversa Stefano Stagi Malgorzata Wasniewska Tags: Article Source Type: research
Generation and Characterization of a Human Neuronal In Vitro Model for Rett Syndrome Using a Direct Reprogramming Method
Stem Cells and Development, Ahead of Print. (Source: Stem Cells and Development)
Source: Stem Cells and Development - February 22, 2024 Category: Stem Cells Authors: Anna Huber Victoria Sarne Alexander V. Beribisky Daniela Ackerbauer Sophia Derdak Silvia Madritsch Julia Etzler Sigismund Huck Petra Scholze Ilayda Gorgulu John Christodoulou Christian R. Studenik Winfried Neuhaus Bronwen Connor Franco Laccone Hannes Stei Source Type: research
Evidence of altered salivary cytokine concentrations in Rett syndrome and associations with clinical severity
CONCLUSION: The results suggest that salivary cytokines may be a possible indicator of immune dysregulation in RTT. Future research should investigate whether these results can be applied to other neurodevelopmental disorders.PMID:38377412 | PMC:PMC8474566 | DOI:10.1016/j.bbih.2019.100008 (Source: Cancer Control)
Source: Cancer Control - February 20, 2024 Category: Cancer & Oncology Authors: Breanne J Byiers Alyssa M Merbler Chantel C Barney Kristin A Frenn Angela Panoskaltsis-Mortari Michael J Ehrhardt Timothy J Feyma Arthur A Beisang Frank Symons Source Type: research
