Active clinical trials for "Rett Syndrome"

This study will explore predictors of how caregivers might adapt to children diagnosed with a pervasive developmental disorder (PDD), including autism, Asperger s syndrome, childhood disintegrative disorder, Rett s disorder or other not specified PDD. PDD presents particular challenges for caregivers because of the communication and socialization challenges of affected children and because of the uncertainty surrounding the cause, prognosis and recurrence risks. People 18 years of age or older who are the primary caregiver for a child diagnosed with a PDD may be eligible for this study. Participants fill out a survey, either online or in hard copy, that includes information in the following categories: How being a caregiver for a child with a PDD has impacted the caregiver. How much control the caregiver feels that he or she or others have over certain aspects of their child s PDD. What the caregiver thinks caused the child s PDD. What coping techniques the caregiver uses in caring for a child with a PDD. How uncertain the caregiver feels about his or her child s PDD. What the caregiver feels about him- or herself as a caregiver of a child with a PDD. General questions about the caregiver, his or her family and the child with a PDD.

This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. These individuals will serve as control subjects. The study will use questionnaires designed to identify sleep disorders and how they affect behavior and quality of life. The principal goals of this study are: To see how common sleep disorders are in individuals with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome; To see how sleep disorders affect behavior in these individuals; To see whether sleep disorders and related behavior problems improve or worsen with age; To see how specific disease conditions relate to sleep disorders and how bad the sleep disorders are; To develop new treatment options to improve quality of life and behavior issues; and To evaluate current treatment options to improve sleep problems in these individuals.

Dysautonomic signs are well known among girls with a Rett Syndrom. Rett syndrom is caused by a MECP2 mutation in 95% of cases. We want to search dysautonomic signs among boys with a MECP2 mutations because they are less studied than the girls and they have more varied phenotypes.

Introduction: Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with communication, learning, co-ordination and neurodevelopment, with loss of motor skills around the age of two. At the same time, stereotyped hand movement typically appears. However, some of them will improve the abilities in speech and eye gaze, and the repetitive hand movements may decrease after few years. Background / hypothesis：Preliminary evidence suggests that there are many differences in brain structure between Rett syndrome and normal people including cerebral volume reduction in both white matter and gray matter, cerebral blood flow in the frontal area, and density of receptors in basal ganglia. In MR imaging studies, decreases in parietal lobe gray matter were found, and several reductions in cortical white matter were observed by DTI. However, the visual related pathway- posterior corona radiata in Rett syndrome girls was normal to be increased in FA values. The similar result was also discovered in the superior longitudinal fasciculus, associated with speech, which equal to control subjects and patients with preserved speech (phrases and sentences).Despite this, few studies mentioned comparison with brain microstructure in the different stage, especially in adult patients. Therefore, our prospective study will be planned to figure out the specific changing pattern of brain structure in different stages of Rett syndrome. And the trajectory of microstructure in brain is going to be in accordance with the functional improvement. The investigators suppose that (1)there are different microstructural changes for patients with/without preserved mobility, verbal ability and communication skill; (2)there are a few specific brain microstructures changes in visual pathway; (3) there is a specific changing pattern of brain microstructure in different aging of Rett syndrome. To acquire more specific results, the investigators aim to apply conventional MRI, diffusion-spectrum imaging, and some clinical assessment tools like Rett syndrome -related questionnaire, SSI, PDMS-2 and six-minute walk test to investigate their correlation.