1. Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
- Author
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Grant, Nathan, Sohn, Young Bae, Ellinwood, N Matthew, Okenfuss, Ericka, Mendelsohn, Bryce A, Lynch, Leslie E, Braunlin, Elizabeth A, Harmatz, Paul R, and Eisengart, Julie B
- Subjects
Intellectual and Developmental Disabilities (IDD) ,Clinical Research ,Behavioral and Social Science ,Rare Diseases ,Brain Disorders ,Pediatric ,Mental health ,Newborn screening ,Mucopolysaccharidosis type II ,Hunter syndrome ,Enzyme replacement therapy ,Early intervention ,Sibling study ,ABR ,Auditory brainstem response ,CNS ,central nervous system ,DAS-II ,Differential Ability Scales ,Second Edition ,ERT ,enzyme replacement therapy ,GAG ,glycosaminoglycan ,HCT ,hematopoietic cell transplantation ,IDS ,iduronate-2-sulphatase ,IT ,intrathecal ,MPS II ,mucopolysaccharidosis type II ,Hunter syndrome ,MPS ,mucopolysaccharidosis ,MRI ,magnetic resonance imaging ,NBS ,newborn screening ,RUSP ,Recommended Uniform Screening Panel ,Biochemistry and Cell Biology ,Genetics - Abstract
Hunter syndrome, or mucopolysaccharidosis (MPS) II, is a rare lysosomal disorder characterized by progressive, multi-system disease. As most symptoms cannot be reversed once established, early detection and treatment prior to the onset of clinical symptoms are critical. However, it is difficult to identify affected individuals early in disease, and therefore the long-term outcomes of initiating treatment during this optimal time period are incompletely described. We report long-term clinical outcomes of treatment when initiated prior to obvious clinical signs by comparing the courses of two siblings with neuronopathic Hunter syndrome (c.1504 T > G[p.W502G]), one who was diagnosed due to clinical disease (Sibling-O, age 3.7 years) and the other who was diagnosed before disease was evident (Sibling-Y, age 12 months), due to his older sibling's findings. The brothers began enzyme replacement therapy within a month of diagnosis. Around the age of 5 years, Sibling-O had a cognitive measurement score in the impaired range of
- Published
- 2022