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Rett Syndrome sentence examples within binding protein 2
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), an X-linked neurodevelopmental disorder predominantly impacting females.
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Background: Methyl-CpG binding protein 2 (MECP2) disorders, including Rett syndrome and MECP2 duplication syndrome, are typified by profound intellectual disability, spasticity, and decline in gross motor function.
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Rett Syndrome sentence examples within linked neurodevelopmental disorder
Rett Syndrome sentence examples within autism spectrum disorder
The objective of the study is to investigate whether during the COVID-19 pandemic, the level of parental stress differs between four disability groups including neurodevelopmental disorders (autism spectrum disorder (ASD), attention deficit and hyperactivity disorder (ADHD)) and genetic syndromes (Rett syndrome (RTT), Sotos syndrome (SS)) in comparison to families with typical development offspring (TD).
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Results: A total of 25 respondents reported prescribing VLDT; 19 used VLDT to treat autism spectrum disorder, 14 for tics, 12 for speech delay, 9 for Rett syndrome, 7 for attention-deficit/hyperactivity disorder, intellectual disability, and 6 for sleep problems.
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Rett Syndrome sentence examples within rare neurodevelopmental disorder
Rett syndrome (RTT) is a rare neurodevelopmental disorder that results in multiple disabilities.
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In one study, understanding the genetic cause of the rare neurodevelopmental disorder Rett syndrome identified a novel treatment in which a small neurotrophin receptor-targeting molecule can reduce respiratory and motor control deficiencies in a pre-clinical mouse model (Adams et al.
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Rett Syndrome sentence examples within neurodevelopmental disorder caused
Rett syndrome (RTT) is a severe X-linked dominant neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene; MeCP2 regulates the expression of brain-derived neurotrophic factor (BDNF) and increasing BDNF levels ameliorates RTT symptoms.
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Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2).
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Rett Syndrome sentence examples within severe neurodevelopmental disorder
Background: Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births.
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Typical Rett syndrome (RTT), the most frequent phenotype associated with MECP2 mutations, primarily affects girls and it was previously thought to be lethal in males; however, MECP2 duplication syndrome, resulting from a duplication of the Xq28 region including MECP2, leads to a severe neurodevelopmental disorder in males.
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Rett Syndrome sentence examples within severe neurological disorder
Rett syndrome (RTT) is a severe neurological disorder, with impaired brain development caused by mutations in MECP2; however, the underlying mechanism remains elusive.
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Initially identified as a transcriptional repressor, MeCP2 specifically binds to methylated DNA, and mutations of MeCP2 have been shown to cause Rett syndrome (RTT), a severe neurological disorder.
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Rett Syndrome sentence examples within rare neurological disorder
Rett syndrome (RTT) is a rare neurological disorder caused by mutations in the X-linked MECP2 gene and a major cause of intellectual disability in females.
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Rett syndrome (RTT) is a rare neurological disorder caused by mutations in the X-linked MECP2 gene, characterized by severe behavioral and physiological impairments for which no cure is available.
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Rett Syndrome sentence examples within neurological disorder caused
Rett Syndrome sentence examples within neurodevelopmental disorder mainly
MECP2 mutations cause Rett syndrome (RTT), a severe and progressive neurodevelopmental disorder mainly affecting females.
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Rett Syndrome sentence examples within Cause Rett Syndrome
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), an X-linked neurodevelopmental disorder predominantly impacting females.
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Loss-of-function mutations in MECP2 cause Rett Syndrome (RTT, OMIM #312750) while duplications in the Xq28 locus containing MECP2 and Interleukin-1 receptor-associated kinase 1 (IRAK1) cause MECP2 duplication syndrome (MDS, OMIM #300260).
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Rett Syndrome sentence examples within Disorder Rett Syndrome
In one study, understanding the genetic cause of the rare neurodevelopmental disorder Rett syndrome identified a novel treatment in which a small neurotrophin receptor-targeting molecule can reduce respiratory and motor control deficiencies in a pre-clinical mouse model (Adams et al.
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De novo loss-of-function mutations in methyl-CpG-binding protein 2 (MeCP2) lead to the neurodevelopmental disorder Rett syndrome (RTT).
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Rett Syndrome sentence examples within Include Rett Syndrome
They include Rett syndrome, Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder, Pitt-Hopkins syndrome, Congenital central hypoventilation syndrome (CCHS), and GRIN1-Related Neurodevelopmental Disorder (5–9).
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Rett Syndrome sentence examples within Atypical Rett Syndrome
Results: We identified pathogenic and likely pathogenic variants in MECP2 in individuals with typical and atypical Rett syndrome, and neuropsychiatric phenotypes, and estimate a prevalence of MECP2-associated disorders of 1 in 2,645 individuals.
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The children had moderate-to-severe autistic behavior, hand stereotypies, and global developmental delay mimicking atypical Rett syndrome.
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Rett Syndrome sentence examples within Background Rett Syndrome
Rett Syndrome sentence examples within Objective Rett Syndrome
Objectives Rett syndrome is a rare disorder characterised by severe scoliosis in 80% of cases.
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Objective Rett syndrome (RTT) is a chronic condition that manifest in young children, with concomitant comorbidities such as respiratory problems, scoliosis, epilepsy, and malnutrition, which may affect children’s quality of life (QoL) and family functioning.
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Rett Syndrome sentence examples within rett syndrome rett
A motif of dinucleotide repeats in the genome may be associated with Rett syndrome Rett syndrome (RTT) is a devastating neurodevelopmental disease caused primarily by loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2) (1).
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Restoring balance in Rett syndrome Rett syndrome (RTT) is a neurodevelopmental disorder causing cognitive, motor, and emotional impairments.
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Rett Syndrome sentence examples within rett syndrome suffer
Rett Syndrome sentence examples within rett syndrome caused
OBJECTIVE
To determine changes of mitochondrial DNA (mtDNA) copy number in peripheral blood in Rett syndrome caused by methyl-CpG-binding protein-2 (MECP2) variants and explore the mechanism of mitochondrial dysfunction in RTT.
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The article presents a description of a clinical case of a child 3 years 8 months old with Rett syndrome caused by the mutation of p.
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Individuals with Rett syndrome (RTT) experience impaired gross motor skills limiting their capacity.
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PURPOSE
In this study, the effect of a remotely supervised, home-based, family-centered individualized rehabilitation program of motor activities for individuals with Rett syndrome (RTT) was evaluated.
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BACKGROUND: Rett Syndrome (RTT), an incurable neurodevelopmental disorder associated in >96% with the X-linked gene, MECP2 includes seizures, among its most difficult issues, impacting many features and increasing morbidity and mortality.
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Here, we present such analysis across 3 days in alloparental female mice (Surrogates or Sur) of two genotypes; Mecp2Heterozygotes (Het), a female mouse model for Rett syndrome and their wild type (WT) siblings.
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Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age.
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Objective: Brain-derived neurotrophic factor (BDNF) dysregulation is widely related with various psychiatric and neurological disorders, including schizophrenia, depression, Rett syndrome, and addiction, and the available evidence suggests that BDNF is also highly correlated with Parkinson’s and Alzheimer’s diseases.
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Syndromic ASD is a subset of ASD caused by underlying genetic disorders, most commonly Fragile X Syndrome (FXS) and Rett Syndrome (RTT).
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In addition, to highlight the role of several PDEs in normal and pathological neurodevelopment, we focused here on the deregulation of cAMP and/or cGMP in Down Syndrome, Fragile X Syndrome, Rett Syndrome, and intellectual disability associated with the CC2D1A gene.
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Rett syndrome (RTT) is a rare genetic disorder that can present challenges in airway management during general anesthesia.
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The efficacy of administering these treatment modalities has been validated by many studies within epilepsy-related syndromes as Rett syndrome, infantile spasms, GLUT-1 deficiency and Dravet syndrome.
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There are four ASD-related monogenetic diseases worthy of analysis: fragile X syndrome, PTEN hamartoma tumor syndrome, tuberous sclerosis complex, and Rett syndrome.
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Rett Syndrome is characterized by a postnatal loss of neurophysiological function and regression of childhood development.
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Rett Syndrome (RTT) is a severe, rare, and progressive developmental disorder with patients displaying neurological regression and autism spectrum features.
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Background: The closure of all educational institutions and most rehabilitation centres represents a precautionary measure to face the COVID-19 pandemic, but the isolation and social distancing may be particularly challenging for children with special needs and disabilities (SEND), such as Rett Syndrome (RTT).
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, Prader-Willi syndrome and Rett syndrome) but may also be involved in acquired attention deficit hyperactive disorder-like conditions (e.
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AIM
This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett Syndrome (RTT).
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The foregoing studies complement an older, yet largely unacknowledged, body of literature that has documented awake, conscious patients with high amplitude delta oscillations in clinical reports from Rett syndrome, Lennox-Gastaut syndrome, schizophrenia, mitochondrial diseases, hepatic encephalopathy, and nonconvulsive status epilepticus.
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Introduction: Progress in the clinical application of next-generation-sequencing-based techniques has resulted in a dramatic increase in the recognized genetic heterogeneity of the Rett syndrome spectrum (RSS).
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Background Gastrointestinal problems affect the health and quality of life of individuals with Rett syndrome (RTT) and pose a medical hardship for their caregivers.
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Background Since subjects with Rett syndrome (RTT) focus their attention mainly on the faces of people with whom they interact, in this study the role of a human-like smart interactive agent (an avatar) in enhancing cognitive processes is examined.
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ABSTRACT Background: Rett syndrome (RTT) is a genetically caused neurodevelopmental disorder associated with severe disability.
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The literature on related disorders such as Rett syndrome, Fragile X and copy number variations (CNVs) predisposing to autism is particularly small and inconclusive.
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Rett syndrome (RTT) is characterized by dysfunction in neuronal excitation/inhibition (E/I) balance, potentially impacting seizure susceptibility via deficits in K+/Cl- cotransporter 2 (KCC2) function.
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MeCP2 deregulation results in two neurodevelopmental disorders: MeCP2 dysfunction is associated with Rett syndrome, while excess of activity is associated with MeCP2 duplication syndrome.
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Clinical trials are ongoing for other forms of epilepsy and refractory seizures associated with infantile spasms, tuberous sclerosis, and Rett syndrome.
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MECP2 mutations are almost universally responsible for Rett syndrome (RTT), and particular mutations and cellular mosaicism of MECP2 may underlie the spectrum of RTT symptomatic severity.
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When scaled, processing times were orders of magnitude faster compared with traditional approaches, allowing for rapid parameter-space mapping in a circuit model of Rett syndrome.
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Rett Syndrome (RTT) is an X-linked dominant neurodevelopmental disorder which specifically affecting females.
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BACKGROUND
longitudinal effects of cognitive rehabilitation in Rett Syndrome (RTT) have been poorly investigated and the mechanisms do not appear to have been described in detail.
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