Rett syndrome is a well-defined neurodevelopmental disorder comprising characteristic clinical features of gait abnormalities, loss of purposeful hand movements, stereotypies, and autistic features. Mutations in the FOXG1 gene have been associated with a congenital variant of Rett syndrome. This is a report on the outcome of routine genetic testing to identify FOXG1 mutations in a patient popul...

Epilepsy often occurs in Rett syndrome and is considered a major problem. The aim of this study was to define the clinical features of epilepsy and the correlation between seizures and both genotype and clinical phenotype in the Rett population. One hundred sixty-five patients with Rett syndrome referred to four Italian centers were recruited. All patients underwent video/EEG monitoring and mol...

AIM This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease. METHOD The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Aus...

Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is a weak correlation between the mutation type in the Xq28 disease-gene MECP2/X-inactivation status and phenotypic variability, we used this disease as a model to unveil the complex nature of a monogenic disorder. Whole exome sequencing wa...

The use of telerehabilitation systems has shown a significant growth in the past years, demonstrating their crucial relevance time COVID-19 pandemic. Many devices and sensors have been proposed to analytically measure parameters for patient assessment, with limitations due costs or feasibility. In this paper, we present motor system computer vision-assisted markerless measures patients Rett syn...

Mutations in the X-linked MECP2 gene cause Rett syndrome, a neurodevelopmental disorder that exclusively affects girls. Females with the MECP2 mutations exhibit a broad spectrum of clinical presentations ranging from classical Rett syndrome to asymptomatic carriers, which can be explained by differences in X chromosome inactivation (XCI). Here, we report a family with a girl with Rett syndrome ...

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects females. The spinal curve in patients with Rett syndrome is typically a long C curve of a neuromuscular type. As the onset of the scoliosis is very early and shows rapid progression, early surgical intervention has been recommended to prevent a life-threatening collapsing...

Rett syndrome is a profoundly disabling X-linked neurodevelopmental disorder that predominantly, but not exclusively, occurs in females. It is mainly caused by mutations in the gene MECP2 for methylCpG-binding protein 2 (Xq28 [1]); recently, CDKL5 and FOXG1 have also been described to correspond with the early-seizure onset variant and the congenital variant of Rett syndrome [2, 3]. MECP2 is pr...

Rett syndrome is a neurological disease that occurs only in females and it manifests with mental retardation, seizures, movement disorders, autistic behavior and abnormal breathing. A 19-year-old female with Rett syndrome underwent ophthalmologic surgery under general anesthesia at our institution. Airway control was difficult due to her limited mouth opening. We recommend that anesthesiologist...

STUDY DESIGN Modified Delphi technique. OBJECTIVE To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion. SUMMARY OF BACKGROUND DATA Rett syndrome is a rare disorder and clinical expertise is thus with small case series. Scoliosis is a frequent association and the evidence base dealing with scoliosis managem...