OBJECTIVE: To identify early clinical markers of neurologic involvement in mucopolysaccharidosis type II. STUDY DESIGN: A retrospective review of neurobehavioral standardized assessments of patients with mucopolysaccharidosis type II evaluated at the Program for Neurodevelopmental Function in Rare Disorders was completed. Patients were grouped based on the presence or absence of central nervous system (CNS) involvement at the most recent evaluation. Differences in early signs and symptoms between resulting cohorts were tested for significance, and an index severity score was developed. RESULTS: Between December 2002 and November 2010, clinical evaluations of 49 patients and 151 patient encounters were reviewed. Thirty-seven patients exhibited neurologic deterioration. Of the 25 signs evaluated, 7 early clinical markers were strongly correlated with subsequent cognitive dysfunction: sleep disturbance, increased activity, behavior difficulties, seizure-like behavior, perseverative chewing behavior, and inability to achieve bowel training and bladder training. A new severity score index was developed, with a score ≥3 indicating a high likelihood of developing CNS disease. CONCLUSION: Seven early clinical markers and a severity score index of CNS involvement can be used for initial screening of children who might benefit from CNS-directed therapies.
OBJECTIVE: To identify early clinical markers of neurologic involvement in mucopolysaccharidosis type II. STUDY DESIGN: A retrospective review of neurobehavioral standardized assessments of patients with mucopolysaccharidosis type II evaluated at the Program for Neurodevelopmental Function in Rare Disorders was completed. Patients were grouped based on the presence or absence of central nervous system (CNS) involvement at the most recent evaluation. Differences in early signs and symptoms between resulting cohorts were tested for significance, and an index severity score was developed. RESULTS: Between December 2002 and November 2010, clinical evaluations of 49 patients and 151 patient encounters were reviewed. Thirty-seven patients exhibited neurologic deterioration. Of the 25 signs evaluated, 7 early clinical markers were strongly correlated with subsequent cognitive dysfunction: sleep disturbance, increased activity, behavior difficulties, seizure-like behavior, perseverative chewing behavior, and inability to achieve bowel training and bladder training. A new severity score index was developed, with a score ≥3 indicating a high likelihood of developing CNS disease. CONCLUSION: Seven early clinical markers and a severity score index of CNS involvement can be used for initial screening of children who might benefit from CNS-directed therapies.
Authors: Laura López-Marín; Luis G Gutiérrez-Solana; Luis Aldamiz-Echevarria Azuara; Rogelio Simón de Las Heras; Anna Duat Rodríguez; Verónica Cantarín Extremera Journal: JIMD Rep Date: 2013-02-02
Authors: Joseph Muenzer; Christian J Hendriksz; Zheng Fan; Suresh Vijayaraghavan; Victor Perry; Saikat Santra; Guirish A Solanki; Mary Ann Mascelli; Luying Pan; Nan Wang; Kenneth Sciarappa; Ann J Barbier Journal: Genet Med Date: 2015-04-02 Impact factor: 8.822
Authors: Audrey A M Vollebregt; Berendine J Ebbink; Dimitris Rizopoulos; Maarten H Lequin; Femke K Aarsen; Elsa G Shapiro; Ans T van der Ploeg; Johanna M P van den Hout Journal: J Inherit Metab Dis Date: 2021-01-25 Impact factor: 4.982