This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during standard treatment. The primary analytical objective is to determine the rate of linear growth over a 6-month period in children \< 2 years of age and over a 12-month period in children ≥ 2 years of age.
Study Type
OBSERVATIONAL
Enrollment
40
Harvard medical School, Children's Hospital Boston, Division of Genetics & Metabolism
Boston, Massachusetts, United States
New York University Medical Center
New York, New York, United States
Hopitaux Universitaires de Strasbourg, Service de Pédiatrie 1
Strasbourg, Cedex, France
St. Mary's Hospital, Genetic Medicine, 6th Floor, Oxford Road
Manchester, United Kingdom
The primary objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
Time frame: 6 -12 months
Hearing Test Results tabulated and with the severity/deficits to be correlated with patient age, height velocity, and Pediatric Evaluation of Disabilities Inventory (PEDI)Score
Time frame: 6-12 months
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