Correction to: Non ‑Verbal Social Skills Assessment in Rett Syndrome: a Systematic Review
(Source: Review Journal of Autism and Developmental Disorders)
Source: Review Journal of Autism and Developmental Disorders - April 27, 2023 Category: Child Development Source Type: research
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study
J Cell Mol Med. 2023 Apr 20. doi: 10.1111/jcmm.17624. Online ahead of print.ABSTRACTThe bacterial product CNF1, through its action on the Rho GTPases, is emerging as a modulator of crucial signalling pathways involved in selected neurological diseases characterized by mitochondrial dysfunctions. Mitochondrial impairment has been hypothesized to have a key role in paramount mechanisms underlying Rett syndrome (RTT), a severe neurologic rare disorder. CNF1 has been already reported to have beneficial effects in mouse models of RTT. Using human RTT fibroblasts from four patients carrying different mutations, as a reliable dis...
Source: J Cell Mol Med - April 20, 2023 Category: Molecular Biology Authors: Camilla Cittadini Elena Angela Pia Germinario Zaira Maroccia Livia Cosentino Valeria Maselli Lucrezia Gambardella Massimo Giambenedetti Marco Guidotti Sara Travaglione Chiara Fallerini Alessandra Renieri David Israel Escobar Marcillo Laura Ricceri Paola F Source Type: research
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study
J Cell Mol Med. 2023 Apr 20. doi: 10.1111/jcmm.17624. Online ahead of print.ABSTRACTThe bacterial product CNF1, through its action on the Rho GTPases, is emerging as a modulator of crucial signalling pathways involved in selected neurological diseases characterized by mitochondrial dysfunctions. Mitochondrial impairment has been hypothesized to have a key role in paramount mechanisms underlying Rett syndrome (RTT), a severe neurologic rare disorder. CNF1 has been already reported to have beneficial effects in mouse models of RTT. Using human RTT fibroblasts from four patients carrying different mutations, as a reliable dis...
Source: Molecular Medicine - April 20, 2023 Category: Molecular Biology Authors: Camilla Cittadini Elena Angela Pia Germinario Zaira Maroccia Livia Cosentino Valeria Maselli Lucrezia Gambardella Massimo Giambenedetti Marco Guidotti Sara Travaglione Chiara Fallerini Alessandra Renieri David Israel Escobar Marcillo Laura Ricceri Paola F Source Type: research
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously. For f... (Source: BMC Medicine)
Source: BMC Medicine - April 20, 2023 Category: Internal Medicine Authors: Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei and Xinhua Bao Tags: Research article Source Type: research
Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 2: High-Tech and Low-Tech Modalities
AbstractThe vast majority of individuals with Rett syndrome do not utilize natural speech and therefore require alternative and augmentative communication (AAC). The purpose of the current study was to investigate the use of high- and low-tech AAC modalities by three individuals with Rett syndrome given similar instruction for using both modalities. For all participants, the number of sessions to criterion and cumulative number of trials with independent requests during simultaneous or alternating instruction in the use of a high- and low-tech AAC modality were investigated. Parents conducted all sessions with remote coach...
Source: Journal of Developmental and Physical Disabilities - April 14, 2023 Category: Disability Source Type: research
Non-Verbal Social Skills Assessment in Rett Syndrome: a Systematic Review
AbstractRett syndrome (OMIM #312750) is a progressive neurodevelopmental disease with clinical manifestations including loss of spoken language and apraxia. We summarized per PRISMA guidelines findings on their non-verbal social skills. Twelve studies (n = 479 females, 1.6–52 years) were sorted into a (non-)interventional design including video-coding, eye-tracking, and questionnaire studies. Across methodology, poor non-verbal social functioning was found, with eye gaze function being the most examined modality. Findings showed similar resp onsiveness to social stimuli as typically developing subjects but with diff...
Source: Review Journal of Autism and Developmental Disorders - April 12, 2023 Category: Child Development Source Type: research
Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 1: Page-Linking
AbstractAlthough the last decade has welcomed evidence that individuals with Rett syndrome (RTT) can communicate using alternative and augmentative communication (AAC), less is known about effective procedures for teaching various component skills required for expressive communication of individuals with complex communication needs. The purpose of the current study was to evaluate the effects of systematic individualized instruction procedures on the page-linking skills of individuals with RTT. A nonconcurrent multiple baseline design across participants was used to evaluate independent and accurate responding utilizing bo...
Source: Journal of Developmental and Physical Disabilities - April 10, 2023 Category: Disability Source Type: research
Genes, Vol. 14, Pages 885: Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability
This study describes a three-generation family with a rare chromosomal insertion. G-banded karyotype, chromosomal microarray analysis (CMA), whole-exome sequencing (WES), and low-pass whole-genome sequencing (WGS) were performed. Six individuals had the balanced insertion [ins(9;15)(q33;q21.1q22.31)] and three individuals had the derivative chromosome 9 [der(9)ins(9;15)(q33;q21.1q22.31)]. The three subjects with unbalanced rearrangement showed similar clinical features, including intellectual disability, short stature, and facial dysmorphisms. CMA of these individuals revealed a duplication of 19.3 Mb at 15q21.1q22.31. A s...
Source: Genes - April 9, 2023 Category: Genetics & Stem Cells Authors: Carolina Gama Nascimento Joana Rosa Marques Prota Il ária Cristina Sgardioli Samira Spineli-Silva Nilma L úcia Viguetti Campos Vera L úcia Gil-da-Silva-Lopes T ársis Paiva Vieira Tags: Case Report Source Type: research
Wild-type MeCp2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome
J Neurosci Res. 2023 Apr 7. doi: 10.1002/jnr.25190. Online ahead of print.ABSTRACTRett syndrome is characterized by an early period of typical development and then, regression of learned motor and speech skills in girls. Loss of MECP2 protein is thought to cause Rett syndrome phenotypes. The specific underlying mechanisms from typical developmental trajectory to regression features throughout life are unclear. Lack of established timelines to study the molecular, cellular, and behavioral features of regression in female mouse models is a major contributing factor. Due to random X-chromosome inactivation, female patients wi...
Source: Cell Research - April 7, 2023 Category: Cytology Authors: Michael Mykins Dana Layo-Carris Logan Reid Dunn David Wilson Skinner Alexandra Hart McBryar Sarah Perez Trinity Rose Shultz Andrew Willems Billy You Bun Lau Tian Hong Keerthi Krishnan Source Type: research
Wild-type MeCp2 expression coincides with age-dependent sensory phenotypes in a female mouse model for Rett syndrome
J Neurosci Res. 2023 Apr 7. doi: 10.1002/jnr.25190. Online ahead of print.ABSTRACTRett syndrome is characterized by an early period of typical development and then, regression of learned motor and speech skills in girls. Loss of MECP2 protein is thought to cause Rett syndrome phenotypes. The specific underlying mechanisms from typical developmental trajectory to regression features throughout life are unclear. Lack of established timelines to study the molecular, cellular, and behavioral features of regression in female mouse models is a major contributing factor. Due to random X-chromosome inactivation, female patients wi...
Source: Cell Research - April 7, 2023 Category: Cytology Authors: Michael Mykins Dana Layo-Carris Logan Reid Dunn David Wilson Skinner Alexandra Hart McBryar Sarah Perez Trinity Rose Shultz Andrew Willems Billy You Bun Lau Tian Hong Keerthi Krishnan Source Type: research
Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study
Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females and is associated with high clinical burden. However, literature characterizing the real-world journey of patients w... (Source: BMC Neurology)
Source: BMC Neurology - April 4, 2023 Category: Neurology Authors: Damian May, Kal é Kponee-Shovein, Malena Mahendran, Nathaniel Downes, Kristy Sheng, Patrick Lefebvre and Wendy Y. Cheng Tags: Research Source Type: research
Alteration of monoaminergic systems in the caudal medulla and its possible link to diurnal increase of apnea in a mouse model of Rett syndrome
CONCLUSION: Alteration of monoaminergic systems in the caudal medulla of Mecp2-/y mice is potentially relevant to the light-sensitive diurnal increase of apnea, and an improvement in monoaminergic neurotransmission can ameliorate the diurnal increase of apnea in Mecp2-/y mice.PMID:36990761 | DOI:10.2334/josnusd.22-0474 (Source: Journal of oral science)
Source: Journal of oral science - March 29, 2023 Category: Dentistry Authors: Manami Hoshi Misa Ishiyama Takashi Wada Kenchi Hase Masayuki Itoh Takashi Kikuiri Tetsuo Shirakawa Source Type: research
