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Rett Syndrome

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2. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating neurodevelopmental condition for which no pharmacotherapies directed at core features are available.This was a phase 2, multicenter, double-blind, placebo-controlled, parallel-group study, in which safety/tolerability, pharmacokinetics (...) , and concomitant medications. Clinician- and caregiver-based efficacy measurements assessed clinically relevant, phenotypic dimensions of impairment of RTT.All dose levels were well tolerated and generally safe. Trofinetide at 200 mg/kg bid showed statistically significant and clinically relevant improvements relative to placebo on the Rett Syndrome Behaviour Questionnaire, RTT-Clinician Domain Specific Concerns-Visual Analog Scale, and Clinical Global Impression Scale-Improvement. Exploratory analyses

2019 EvidenceUpdates

3. Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. (PubMed)

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing.Four FOXG1 mutations were detected in four patients (three (...) of the corpus callosum.Our findings extend the spectrum of FOXG1 mutations and the clinical features of RTT in Chinese patients. We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations.

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2017 BMC Medical Genetics

4. Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. (PubMed)

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder. With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder. Rett syndrome features an interesting challenge for biologists (...) and clinicians, as the disorder lies at the intersection of molecular mechanisms of epigenetic regulation and neurophysiological alterations in synapses and circuits that together contribute to severe pathophysiological endophenotypes. Genetic, clinical, and neurobiological evidences support the notion that Rett syndrome is primarily a synaptic disorder, and a disease model for both intellectual disability and autism spectrum disorder. This review examines major developments in both recent neurobiological

2019 Brain

5. Randomized open-label trial of dextromethorphan in Rett syndrome

Randomized open-label trial of dextromethorphan in Rett syndrome To determine safety and perform a preliminary assessment of dose-dependent efficacy of dextromethorphan in normalizing electrographic spikes, clinical seizures, and behavioral and cognitive functions in girls with Rett syndrome.We used a prospective randomized, open-label trial in fast metabolizers of dextromethorphan to examine the effect of dextromethorphan on core clinical features of Rett syndrome. Interictal spike activity (...) and clinical seizures were determined using EEG and parent reporting. Cognitive data were obtained using the Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales, while behavioral data were obtained from parent-completed checklists, the Aberrant Behavior Checklist-Community Version, and the Screen for Social Interaction. Anthropometric data were obtained according to the National Health and Nutrition Examination Survey. The Rett Syndrome Severity Scale provided a clinical global impression

2017 EvidenceUpdates

6. The effectiveness of music therapy for individuals with Rett syndrome and their families. (PubMed)

The effectiveness of music therapy for individuals with Rett syndrome and their families. Patients with Rett syndrome (RTT) present characteristic regression in communication and hand skills, which eventually leads to intellectual and physical disability. Moreover, caregivers of patients with RTT face stressors related to patients' medical and developmental concerns. Given the indications from case reports, this pilot study investigated the effectiveness of music therapy on RTT patients (...) , as well as on parental stress for families of children with RTT.Families in the study group were enrolled in a twice-weekly 120-minute music therapy program for 24 weeks (n = 11), whereas families in the control group did not receive music therapy (n = 12). Participants were administered the Vineland Adaptive Behavior Scales, Rett Syndrome Clinical Severity Scale, Rett Syndrome Motor Behavioral Assessment, and Parenting Stress Index for caregivers of RTT children before and after the music therapy

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2019 Journal of the Formosan Medical Association = Taiwan yi zhi

7. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. (PubMed)

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Rett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (MECP2). Our objective to investigate the genetic landscape of MECP2-negative typical/atypical RTT and RTT-like phenotypes using whole exome sequencing (WES).We performed WES on 77 MECP2-negative patients

2019 Journal of Medical Genetics

8. Regenerative glutamate release in the hippocampus of Rett syndrome model mice. (PubMed)

Regenerative glutamate release in the hippocampus of Rett syndrome model mice. Excess glutamate during intense neuronal activity is not instantly cleared and may accumulate in the extracellular space. This has various long-term consequences such as ectopic signaling, modulation of synaptic efficacy and excitotoxicity; the latter implicated in various neurodevelopmental and neurodegenerative diseases. In this study, the quantitative imaging of glutamate homeostasis of hippocampal slices from (...) methyl-CpG binding protein 2 knock-out (Mecp2-/y) mice, a model of Rett syndrome (RTT), revealed unusual repetitive glutamate transients. They appeared in phase with bursts of action potentials in the CA1 neurons. Both glutamate transients and bursting activity were suppressed by the blockade of sodium, AMPA and voltage-gated calcium channels (T- and R-type), and enhanced after the inhibition of HCN channels. HCN and calcium channels in RTT and wild-type (WT) CA1 neurons displayed different voltage

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2018 PLoS ONE

9. Biliary Tract Disease in Girls and Young Women with Rett Syndrome. (PubMed)

Biliary Tract Disease in Girls and Young Women with Rett Syndrome. We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT).Sixty-two individuals with RTT and biliary tract disease were identified from the membership of Rett Syndrome Organization (RS.O) and patient files of the principal investigator. Medical records of 46 individuals were reviewed (...) for presenting features, diagnostic tests, and treatment outcomes of biliary tract disease. We designed a questionnaire that probed the frequency of risk factors and treatment outcomes of biliary tract disease in RTT. The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study.Presenting symptoms identified by record review included abdominal pain (94%), irritability (88%), weight

2019 Journal of Pediatric Gastroenterology and Nutrition

10. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. (PubMed)

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. To determine safety, tolerability, and pharmacokinetics of trofinetide and evaluate its efficacy in female children/adolescents with Rett syndrome (RTT), a debilitating neurodevelopmental condition for which no pharmacotherapies directed at core features are available.This was a phase 2, multicenter, double-blind, placebo-controlled, parallel-group study, in which safety/tolerability, pharmacokinetics (...) , and concomitant medications. Clinician- and caregiver-based efficacy measurements assessed clinically relevant, phenotypic dimensions of impairment of RTT.All dose levels were well tolerated and generally safe. Trofinetide at 200 mg/kg bid showed statistically significant and clinically relevant improvements relative to placebo on the Rett Syndrome Behaviour Questionnaire, RTT-Clinician Domain Specific Concerns-Visual Analog Scale, and Clinical Global Impression Scale-Improvement. Exploratory analyses

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2019 Neurology

11. Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. (PubMed)

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study. To characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT).Data from 1,123 girls and women enrolled in the RTT Natural History Study were gathered. Standard tests for continuous and categorical variables were used at baseline. For longitudinal data, we used repeated-measures linear and logistic regression models and nonparametric tests.HS were reported in 922 participants with classic

2019 Neurology

12. Tapping-lips aggravated interictal bilateral discharges in EEG in the patients with Rett syndrome: a case report. (PubMed)

Tapping-lips aggravated interictal bilateral discharges in EEG in the patients with Rett syndrome: a case report. Rett syndrome (RTT) is a severe neurodevelopmental disorder mainly affecting females. One of the main clinical manifestations is hand stereotypies, which is presumed to based on dysfunction rather than on structural impairment. Reflex interictal discharge precipitated by tapping-lips in electroencephalogram (EEG) is a rare phenomenon among RTT.We firstly reported a case of RTT

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2019 BMC Neurology

13. Respiratory Complications After Posterior Spinal Fusion for Neuromuscular Scoliosis: Children With Rett Syndrome at Greater Risk Than Those With Cerebral Palsy. (PubMed)

Respiratory Complications After Posterior Spinal Fusion for Neuromuscular Scoliosis: Children With Rett Syndrome at Greater Risk Than Those With Cerebral Palsy. MINI: We investigated immediate postoperative outcomes of children with Rett syndrome versus cerebral palsy after undergoing posterior spinal fusion. Children with Rett syndrome had more respiratory failure, more need for positive pressure ventilation, and longer intensive care unit stays, despite better preoperative motor function (...) and shorter surgeries.Retrospective cohort.To determine how respiratory failure rates and duration of intensive care unit (ICU) stay after posterior spinal fusion (PSF) for neuromuscular scoliosis compare between children with Rett syndrome (RS) versus cerebral palsy (CP).Rett syndrome and CP are associated with high incidence of neuromuscular scoliosis and respiratory dysfunction.We included 21 patients with RS (mean age, 13 ± 3.1 yrs) and 124 with CP (mean age, 14 ± 3.2 yrs) who underwent PSF by one

2019 Spine

14. Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome. (PubMed)

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome. Girls and women with Rett Syndrome (RTT) have low levels of daily physical activity and high levels of sedentary time. Reducing sedentary time and enhancing "uptime" activities such as standing and walking could be an important focus for interventions to address long-term health and quality of life in RTT.The aim of the study was to evaluate

2019 Physical therapy

15. Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome. (PubMed)

Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome. Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder associated with respiratory abnormalities and, in up to ~40% of patients, with prolongation of the cardiac QTc interval. QTc prolongation calls for cautious use of drugs with a propensity to inhibit hERG channels. The STARS trial has been undertaken to investigate the efficacy of sarizotan, a 5-HT1A receptor agonist, at correcting RTT

2019 Journal of Molecular and Cellular Cardiology

16. Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. (PubMed)

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations.In total, 112 Chinese patients with intellectual disability (ID) were recruited, including 44 patients presented with Rett syndrome (RTT) or RTT-like syndrome (...) , and 68 patients with non-syndromic ID. Targeted next-generation sequencing (NGS) was performed. Detailed clinical information was collected.Five heterozygous MEF2C gene mutations were identified, of which three were novel. The MEF2C mutant rate was 4.5% (5/112) in total, and 6.8% (3/44) in the RTT (-like) cohort. All patients with MEF2C gene mutation presented with cognitive impairment, gross motor delay, speech disorder and autistic features. Four patients had epilepsy, which responded well

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2018 BMC Medical Genetics

17. Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility. (PubMed)

Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility. Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life.To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone markers in RS girls with bone

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2017 PLoS ONE

18. D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome. (PubMed)

D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome. Rett syndrome (RTT), a leading cause of intellectual disability in girls, is predominantly caused by mutations in the X-linked gene MECP2. Disruption of Mecp2 in mice recapitulates major features of RTT, including neurobehavioral abnormalities, which can be reversed by re-expression of normal Mecp2. Thus, there is reason to believe that RTT could be amenable to therapeutic intervention throughout the lifespan (...) activity, corrected the presynaptic but not LTP deficit without affecting deficient hippocampal BDNF levels. DCS treatment did, however, partially restore lower BDNF levels in the brain stem and striatum. Thus, treatment with DCS may mitigate the severity of some of the neurobehavioral symptoms experienced by patients with Rett syndrome.

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2017 PLoS ONE

19. Severe changes in colon epithelium in the Mecp2-null mouse model of Rett syndrome (PubMed)

Severe changes in colon epithelium in the Mecp2-null mouse model of Rett syndrome Rett syndrome is best known due to its severe and devastating symptoms in the central nervous system. It is produced by mutations affecting the Mecp2 gene that codes for a transcription factor. Nevertheless, evidence for MECP2 activity has been reported for tissues other than those of the central nervous system. Patients affected by Rett presented with intestinal affections whose origin is still not known. We have

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2016 Molecular and cellular pediatrics

20. A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome. (PubMed)

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome. This study aimed to determine the safety and tolerability of trofinetide and to evaluate efficacy measures in adolescent and adult females with Rett syndrome, a serious and debilitating neurodevelopmental condition for which no therapies are available for its core features.This was an exploratory, phase 2, multicenter, double-blind, placebo-controlled, dose-escalation study (...) of the safety and tolerability of trofinetide in 56 adolescent and adult females with Rett syndrome. Subjects were randomly assigned in a 2:1 ratio to 35 mg/kg twice daily of trofinetide or placebo for 14 days; 35 mg/kg twice daily or placebo for 28 days; or 70 mg/kg twice daily or placebo for 28 days. Safety assessments included adverse events, clinical laboratory tests, vital signs, electrocardiograms, physical examinations, and concomitant medications. Efficacy measurements were categorized into four

2018 Pediatric Neurology

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