Changes in pediatric referrals after the 2009 ketogenic diet consensus recommendations
CONCLUSIONS: Following the 2009 recommendations, our study shows there was an increase in referrals for children with indications at our center. Referrals from neurologists at our own institution increased the most. Ketogenic diet efficacy improved slightly over time but did not reach significance.PMID:38643663 | DOI:10.1016/j.yebeh.2024.109791 (Source: Epilepsy and Behaviour)
Source: Epilepsy and Behaviour - April 21, 2024 Category: Neurology Authors: Rebecca S Stainman Zahava Turner Eric H Kossoff Source Type: research
Look at DAYBUE ™ (Trofinetide) as first ever drug for treatment of Rett Syndrome
Asian J Psychiatr. 2024 Mar 19;95:104011. doi: 10.1016/j.ajp.2024.104011. Online ahead of print.NO ABSTRACTPMID:38555801 | DOI:10.1016/j.ajp.2024.104011 (Source: Asian Journal of Psychiatry)
Source: Asian Journal of Psychiatry - March 31, 2024 Category: Psychiatry Authors: Muiz Khan Tareen Zayed Mohiyuddin Source Type: research
Letter to the editor on "A novel frameshift mutation of FOXG1-induced congenital variant of Rett syndrome: A case report"
Asian J Surg. 2024 Mar 26:S1015-9584(24)00487-1. doi: 10.1016/j.asjsur.2024.03.059. Online ahead of print.NO ABSTRACTPMID:38538395 | DOI:10.1016/j.asjsur.2024.03.059 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - March 27, 2024 Category: Surgery Authors: Qian Hu Ling Feng Ming-Hao Yang Fan Yang Source Type: research
Letter to the editor on "A novel frameshift mutation of FOXG1-induced congenital variant of Rett syndrome: A case report"
Asian J Surg. 2024 Mar 26:S1015-9584(24)00487-1. doi: 10.1016/j.asjsur.2024.03.059. Online ahead of print.NO ABSTRACTPMID:38538395 | DOI:10.1016/j.asjsur.2024.03.059 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - March 27, 2024 Category: Surgery Authors: Qian Hu Ling Feng Ming-Hao Yang Fan Yang Source Type: research
Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives
The objective of this article is to describe the perspectives of five caregivers of girls in trofinetide clinical trials as well as those of three nurse trial coordinators, with a focus on management of GI symptoms of trofinetide treatment.Audio Abstract available for this article.Audio Abstract: Jane Lane provides an overview and discusses key findings of the article titled “Managing Gastrointestinal Symptoms Resulting from Treatment with Trofinetide for Rett Syndrome: Caregiver and Nurse Perspectives.” (MP4 83274 KB) (Source: Advances in Therapy)
Source: Advances in Therapy - March 24, 2024 Category: Drugs & Pharmacology Source Type: research
Safety and efficacy of trofinetide in Rett syndrome: a systematic review and meta-analysis of randomized controlled trials
Rett syndrome is a rare genetic neurodevelopmental disorder that predominantly impacts females. It presents with loss of acquired skills, impaired communication, and stereotypic hand movements. Given the limit... (Source: BMC Pediatrics)
Source: BMC Pediatrics - March 23, 2024 Category: Pediatrics Authors: Abdallah Abbas, Aya M Fayoud, Mostafa Hossam El Din Moawad, Abdullah Ashraf Hamad, Heba Hamouda and Eman A. Fouad Tags: Research Source Type: research
Protein tyrosine phosphatase 1B in metabolic diseases and drug development
Nature Reviews Endocrinology, Published online: 22 March 2024; doi:10.1038/s41574-024-00965-1This Review summarizes cellular processes and regulation of protein tyrosine phosphatase 1B (PTP1B), discussing evidence from in vivo preclinical and human studies. PTP1B inhibitors, which are being developed for type 2 diabetes mellitus, obesity, rare diseases (such as Rett syndrome) and some cancers, are also discussed. (Source: Nature Reviews Endocrinology)
Source: Nature Reviews Endocrinology - March 22, 2024 Category: Endocrinology Authors: Mirela Delibegovi ć Sergio Dall ’Angelo Ruta Dekeryte Source Type: research
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis
This study allowed to reach a diagnosis in half of the participants. The diagnosis of RTT was confirmed in over a third of them, while others were found to have alternative neurodevelopmental disorders. Further evaluation is needed to identify the cause in those with negative or uncertain results. This information is useful for the patients, families, and clinicians to guide clinical management, even more so since the development of novel therapies for RTT. We also show the feasibility of implementing a step-wide approach to genomic testing in a setting with limited resources. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - March 18, 2024 Category: Genetics & Stem Cells Source Type: research
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
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
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
