Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome

OBJECTIVES: I. Evaluate electrocardiographic parameters, including QT and PR intervals and QRS morphology/duration, across clinical stages in patients with Rett syndrome.

II. Characterize abnormalities of cardiac conduction and repolarization. III. Assess arrhythmias, heart rate variability, and autonomic nervous system function in these patients using 24-hour Holter monitoring.

IV. Record events believed to represent seizures with video, electroencephalogram (EEG), and polygraph monitoring in patients who have more than 1 clinical seizure every 5 days.

V. Characterize these events with respect to clinical manifestations, EEG correlates, and other physiologic data.

VI. Determine the frequency of seizures vs. events without electrographic correlates in these patients.

VII. Determine whether Rett syndrome patients have characteristic or unique types of seizures and/or an epileptic syndrome.

Study Overview

• Status: Completed
• Conditions: Rett Syndrome

Detailed Description

PROTOCOL OUTLINE: Patients receive an electrocardiogram at baseline and every 6 months for 3 years. Clinical stage II patients undergo 24-hour Holter monitoring on the same schedule; age-matched controls are tested once.

A group of patients with more than 1 seizure or possible seizure every 5 days undergo 5-day continuous electroencephalogram/polygraphic/video monitoring, with respiratory effort assessment, end tidal carbon dioxide and oxygen saturation levels, and a seizure log.

• Study Type: Observational
• Enrollment: 95

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

Description

• Classical Rett syndrome meeting Rett Syndrome Diagnostic Work Group criteria
• Age-matched girls without neurologic or cardiac problems entered as controls

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Collaborators: Baylor College of Medicine
• Investigators: Study Chair: Daniel G. Glaze, Baylor College of Medicine

Publications and helpful links

General Publications

• Glaze DG. Commentary: the challenge of Rett syndrome. Neuropediatrics. 1995 Apr;26(2):78-80. doi: 10.1055/s-2007-979728. No abstract available.
• Glaze DG, Schultz RJ. Rett Syndrome: Meeting the Challenge of This Gender-Specific Neurodevelopmental Disorder. Medscape Womens Health. 1997 Jan;2(1):3.
• Sekul EA, Moak JP, Schultz RJ, Glaze DG, Dunn JK, Percy AK. Electrocardiographic findings in Rett syndrome: an explanation for sudden death? J Pediatr. 1994 Jul;125(1):80-2. doi: 10.1016/s0022-3476(94)70128-8.

Study record dates

Study Major Dates

• Study Start: August 1, 1995
• Study Completion: June 1, 1997

Study Registration Dates

• First Submitted: February 24, 2000
• First Submitted That Met QC Criteria: February 24, 2000
• First Posted (Estimate): February 25, 2000

Study Record Updates

• Last Update Posted (Estimate): June 24, 2005
• Last Update Submitted That Met QC Criteria: June 23, 2005
• Last Verified: January 1, 1997

More Information

Terms related to this study

• Keywords: neurologic and psychiatric disorders; rare disease; Rett syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Syndrome; Rett Syndrome
• Other Study ID Numbers: 199/11798; BCM-H2465