scholarly journals Rett Syndrome: A Case Report

1970 ◽  
Vol 28 (1) ◽  
pp. 20-22
Author(s):  
MR Pathak ◽  
A Neopane
Keyword(s):  
Rett Syndrome ◽  
Speech Therapy ◽  
Neurodevelopmental Disorder ◽  
Mecp2 Gene ◽  
Dominant Inheritance ◽  
Pharmacological Agents ◽  
Developmental Regression ◽  
History Of ◽  
Social Interaction Skills ◽  
Key Words Rett Syndrome

Rett Syndrome (RS) is a neurodevelopmental disorder in which girls are predominantly affected, transmitted as an X linked dominant inheritance and caused by mutation in MECP2 gene. The basic presentation in RS is regression of previously acquired developmental milestones, lack of social interaction skills and acquired microcephaly after a certain age, which starts in early months of infancy. It is frequently misdiagnosed as autism, cerebral palsy or nonspecific developmental delay and is relatively frequent cause of delayed development in girls. Diagnosis is mainly clinical after excluding the neurodegenerative and other causes of delayed milestones. The chromosomal analysis, confirmatory tool for diagnosis is available in limited centers. The treatment is mainly speech therapy and counseling though few pharmacological agents have been tried with little response. A ten years age girl presented with the history of seizures, regression of speech and delayed motor milestones in our out patient clinic which was subsequently diagnosed as Rett Syndrome. Key Words: Rett syndrome, Developmental Regression, X Linked Dominant.    DOI = 10.3126/jnps.v28i1.1402   J. Nepal Paediatr. Soc. Vol.28(1) p.20-22

scholarly journals Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28

2019 ◽  
Vol 16 (17) ◽  
pp. 3075
Author(s):  
Maria Bernarda Pitzianti ◽  
Angelo Santamaria Palombo ◽  
Susanna Esposito ◽  
Augusto Pasini
Keyword(s):  
Rett Syndrome ◽  
Genetic Basis ◽  
Normal Development ◽  
Clinical Course ◽  
Neurodevelopmental Disorder ◽  
Dominant Inheritance ◽  
Clinical Form ◽  
Inactivation Pattern ◽  
History Of

Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills and evolution towards impairment of brain and motor functions and multi-organ dysfunction. Originally, RTT was considered lethal in males as it has an X-linked dominant inheritance. However, although this syndrome has a higher incidence in females, rare cases are also documented in males. Here, we describe the case of an 11-year-old male patient with a microduplication MECP2 Xq28. Our patient is currently living, while his older brother with the same mutation died at the age of 9 years. We showed that the role of MECP2 as an epigenetic modulator and the X-chromosome inactivation pattern can explain the lethal clinical form of the older brother with the same microduplication MECP2 Xq28 presented by our patient who is still alive. Given the limited case history of RTT in males, further studies are needed to better characterize this syndrome in males and consequently improve the currently available therapeutic strategies.

scholarly journals Sphingolipid Metabolism Perturbations in Rett Syndrome

Metabolites ◽  
2019 ◽  
Vol 9 (10) ◽  
pp. 221 ◽  
Author(s):  
Cappuccio ◽  
Donti ◽  
Pinelli ◽  
Bernardo ◽  
Bravaccio ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Metabolic Profiling ◽  
Neurodevelopmental Disorder ◽  
Sphingolipid Metabolism ◽  
Tandem Mass ◽  
Mecp2 Gene ◽  
Loss Of Function ◽  
Disease Pathogenesis ◽  
Blood Samples ◽  
Disease Biomarkers

Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2. The pathogenetic mechanisms of Rett syndrome are not completely understood and metabolic derangements are emerging as features of Rett syndrome. We performed a semi-quantitative tandem mass spectrometry-based analysis that measured over 900 metabolites on blood samples from 14 female subjects with Rett syndrome carrying MECP2 mutations. The metabolic profiling revealed alterations in lipids, mostly involved in sphingolipid metabolism, and sphinganine/sphingosine, that are known to have a neurotrophic role. Further investigations are required to understand the mechanisms underlying such perturbations and their significance in the disease pathogenesis. Nevertheless, these metabolites are attractive for studies on the disease pathogenesis and as potential disease biomarkers.

scholarly journals MeCP2: The Genetic Driver of Rett Syndrome Epigenetics

2021 ◽  
Vol 12 ◽  
Author(s):  
Katrina V. Good ◽  
John B. Vincent ◽  
Juan Ausió
Keyword(s):  
Rett Syndrome ◽  
Neuronal Development ◽  
Neurodevelopmental Disorder ◽  
Epigenetic Mark ◽  
Initial Development ◽  
Genetic Ablation ◽  
Developmental Regression ◽  
The Stability ◽  
The Brain

Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome (RTT), a rare neurodevelopmental disorder with a notable period of developmental regression following apparently normal initial development. Such MeCP2 alterations often result in changes to DNA binding and chromatin clustering ability, and in the stability of this protein. Among other functions, MeCP2 binds to methylated genomic DNA, which represents an important epigenetic mark with broad physiological implications, including neuronal development. In this review, we will summarize the genetic foundations behind RTT, and the variable degrees of protein stability exhibited by MeCP2 and its mutated versions. Also, past and emerging relationships that MeCP2 has with mRNA splicing, miRNA processing, and other non-coding RNAs (ncRNA) will be explored, and we suggest that these molecules could be missing links in understanding the epigenetic consequences incurred from genetic ablation of this important chromatin modifier. Importantly, although MeCP2 is highly expressed in the brain, where it has been most extensively studied, the role of this protein and its alterations in other tissues cannot be ignored and will also be discussed. Finally, the additional complexity to RTT pathology introduced by structural and functional implications of the two MeCP2 isoforms (MeCP2-E1 and MeCP2-E2) will be described. Epigenetic therapeutics are gaining clinical popularity, yet treatment for Rett syndrome is more complicated than would be anticipated for a purely epigenetic disorder, which should be taken into account in future clinical contexts.

scholarly journals Rett syndrome: the Brazilian contribution to the gene discovery

2019 ◽  
Vol 77 (12) ◽  
pp. 896-899 ◽  
Author(s):  
José Luiz Pinto Pereira ◽  
José Luiz Pedroso ◽  
Orlando G. P. Barsottini ◽  
Alex Tiburtino Meira ◽  
Hélio A. G. Teive
Keyword(s):  
Rett Syndrome ◽  
Gene Discovery ◽  
Genetic Mechanism ◽  
Mecp2 Gene ◽  
Future Prospects ◽  
Familial Cases ◽  
History Of ◽  
Sporadic Cases ◽  
Male Patients ◽  
Andreas Rett

ABSTRACT A brief history of the syndrome discovered by Andreas Rett is reported in this paper. Although having been described in 1966, the syndrome was only recognized by the international community after a report by Hagberg et al. in 1983. Soon, its importance was evident as a relatively frequent cause of severe encephalopathy among girls. From the beginning it was difficult to explain the absence of male patients and the almost total predominance of sporadic cases (99%), with very few familial cases. For these reasons, it was particularly difficult to investigate this condition until 1997, when a particular Brazilian family greatly helped in the final discovery of the gene, and in the clarification of its genetic mechanism. Brief references are made to the importance of the MECP2 gene, 18 years later, as well as to its role in synaptogenesis and future prospects.

scholarly journals Rett Syndrome: A Case report

1970 ◽  
Vol 28 (1) ◽  
pp. 17-19
Author(s):  
M Shrestha ◽  
A Rajbhandari
Keyword(s):  
Case Report ◽  
Rett Syndrome ◽  
Developmental Disorder ◽  
Hand Function ◽  
Hand Movements ◽  
Clonic Convulsion ◽  
Developmental Regression ◽  
Severe Intellectual Disability ◽  
The World ◽  
Key Words Rett Syndrome

Rett syndrome (RS) is a severe neuro-developmental disorder leading to severe intellectual disability in females all around the world. A four-year-old girl from Kathmandu presented with classic features of Rett syndrome (RS), including developmental regression with dementia, loss of acquired speech and hand function, and stereotypic hand movements along with generalized tonic clonic convulsion. Key words: Rett Syndrome, Developmental Regression   DOI = 10.3126/jnps.v28i1.1401   J. Nepal Paediatr. Soc. Vol.28(1) p.17-19

scholarly journals Deficits in Skilled Motor and Auditory Learning in a Rat Model of Rett Syndrome

2020 ◽  
Author(s):  
Katherine S. Adcock ◽  
Abigail E. Blount ◽  
Robert A. Morrison ◽  
Amanda Alvarez-Dieppa ◽  
Michael P. Kilgard ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Discrimination Task ◽  
Neurodevelopmental Disorder ◽  
Motor Task ◽  
Speech Discrimination ◽  
Auditory Learning ◽  
Reaching Task ◽  
Developmental Regression ◽  
Learning Rates ◽  
And Performance

Abstract Background: Rett Syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett Syndrome display developmental regression at an early age, and develop a range of motor, auditory, cognitive and social impairments. Several studies have successfully modeled some aspects of dysfunction and Rett Syndrome-like phenotypes in transgenic mouse and rat models bearing mutations in the MECP2 gene. Here, we sought to extend these findings and characterize skilled learning, a more complex behavior known to be altered in Rett syndrome. Methods: We evaluated the acquisition and performance of auditory and motor function on two complex tasks in heterozygous female Mecp2 rats. Animals were trained to perform a speech discrimination task or a skilled forelimb reaching task. Results: Our results reveal that Mecp2 rats display slower acquisition and reduced performance on an auditory discrimination task than wild-type (WT) littermates. Similarly, Mecp2 rats exhibit impaired learning rates and worse performance on a skilled forelimb motor task compared to WT. Conclusions: Together, these findings illustrate novel deficits in skilled learning consistent with clinical manifestation of Rett syndrome and provide a framework for development of therapeutic strategies to improve these complex behaviors.

scholarly journals Rett Syndrome without MECP2 Mutation in a Pakistani Girl

2020 ◽  
Vol 1 (2) ◽  
pp. 3
Author(s):  
Rubina Dad ◽  
Humaira Aziz Sawal ◽  
Arsalan Ahmad ◽  
Muhammad Ikram Ullah ◽  
Muhammad Jawad Hassan
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Social Behavior ◽  
Rett Syndrome ◽  
Causative Mutation ◽  
Nucleotide Variation ◽  
Mecp2 Gene ◽  
Pakistani Family ◽  
History Of ◽  
Electroencephalogram Eeg

Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl from a consanguineous Pakistani family presented with history of abnormal social behavior, tonic colonic seizures, limb'sataxia, intellectual disability, growth retardation and speech abnormalities. Physical and neurological examinations established likely clinical features of Rett syndrome with abnormal electroencephalogram (EEG). Genetic testing of MECP2 gene did not identify any functional nucleotide variation indicating the involvement of another gene mutation in this patient.A consanguineous case of Rett syndrome did not carry the mutation of MECP2 gene. Due to heterogeneity of the phenotype, it is proposed that there might be involvement of another locus for this disease. In future, targeted next generation sequence can be helpful to identify the causative mutation in this patient.

Dysphagia in Rett Syndrome: A Descriptive Study

2017 ◽  
Vol 126 (9) ◽  
pp. 640-645 ◽  
Author(s):  
Chiara Mezzedimi ◽  
Walter Livi ◽  
Claudio De Felice ◽  
Serena Cocca
Keyword(s):  
Rett Syndrome ◽  
Neurodevelopmental Disorder ◽  
Descriptive Study ◽  
Speech Evaluation ◽  
Swallowing Problems ◽  
Tongue Movements ◽  
History Of ◽  
Oral Stage ◽  
Endoscopic Assessment ◽  
Fatal Complications

Objectives: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. Methods: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. Results: Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. Conclusions: Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.

scholarly journals Rett syndrome: clinical and epidemiological aspects in a Brazilian institution

2003 ◽  
Vol 61 (4) ◽  
pp. 909-915 ◽  
Author(s):  
Cristina M. Pozzi ◽  
Sergio Rosemberg
Keyword(s):  
Rett Syndrome ◽  
Clinical Data ◽  
Neurodevelopmental Disorder ◽  
Mecp2 Gene ◽  
Laboratory Studies ◽  
Cerebral Malformation ◽  
Brazilian Sample ◽  
Female Patients ◽  
Congenital Form ◽  
Frequent Finding

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend - learning, hand use and speech - leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7%): 17 (70.8%) had classical RS; 5 (20.8%), atypical RS and 2 (8.4%), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding.

scholarly journals Deficits in skilled motor and auditory learning in a rat model of Rett syndrome

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Katherine S. Adcock ◽  
Abigail E. Blount ◽  
Robert A. Morrison ◽  
Amanda Alvarez-Dieppa ◽  
Michael P. Kilgard ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Discrimination Task ◽  
Neurodevelopmental Disorder ◽  
Motor Task ◽  
Speech Discrimination ◽  
Auditory Learning ◽  
Reaching Task ◽  
Developmental Regression ◽  
Learning Rates ◽  
And Performance

Abstract Background Rett syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett syndrome display developmental regression at an early age, and develop a range of motor, auditory, cognitive, and social impairments. Several studies have successfully modeled some aspects of dysfunction and Rett syndrome-like phenotypes in transgenic mouse and rat models bearing mutations in the MECP2 gene. Here, we sought to extend these findings and characterize skilled learning, a more complex behavior known to be altered in Rett syndrome. Methods We evaluated the acquisition and performance of auditory and motor function on two complex tasks in heterozygous female Mecp2 rats. Animals were trained to perform a speech discrimination task or a skilled forelimb reaching task. Results Our results reveal that Mecp2 rats display slower acquisition and reduced performance on an auditory discrimination task than wild-type (WT) littermates. Similarly, Mecp2 rats exhibit impaired learning rates and worse performance on a skilled forelimb motor task compared to WT. Conclusions Together, these findings illustrate novel deficits in skilled learning consistent with clinical manifestation of Rett syndrome and provide a framework for development of therapeutic strategies to improve these complex behaviors.

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