Medical Comorbidities in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

Autor: Heather Adams, Jennifer M. Kwon, Erika F. Augustine, Fred Marshall, Jonathan W. Mink, Amy Vierhile, Samantha Potter, Nicole Newhouse
Rok vydání: 2012
Předmět:
Zdroj: Molecular Genetics and Metabolism. 105:S15
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2011.11.009
Popis: s for the Lysosomal Disease Network's WORLD Symposium Medical Comorbidities in Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease) Heather Adams a, , Erika Augustine , Samantha Potter , Jennifer Kwon , Fred Marshall , Nicole Newhouse , Amy Vierhile , Jonathan Mink , University of Rochester Medical Center, Rochester, NY, USA, Syracuse University, Syracuse, USA Juvenile neuronal ceroid lipofuscinosis (JNCL) is a childhoodonset neurodegenerative, lysosomal storage disease. JNCL causes vision loss, seizures, motor and mental decline, and premature death. Although neurological and psychiatric aspects of JNCL are wellcharacterized, little is known about systemic medical comorbidities. The University of Rochester Batten Center therefore reviewed medical history of 45 males and 41 females with genetically confirmed JNCL who had completed the Unified Batten Disease Rating Scale (UBDRS). Participants’ mean age was 15.1 years old (SD=5.2 years). Excluding neurologic and psychiatric symptoms, the five most commonly parent-reported medical comorbidities were constipation (N=23), incontinence (N=23), acne (N=18), ear infection (N=17), eczema or dry/itchy skin (N=14), and pain (N=13). Fourteen children were reported to have medication allergies. On average, children experienced approximately 4 comorbid health problems (M=3.9, SD=3.0; range=0 to 7). The total number of medical problems (“medical burden”) was positively correlated with age (r=.42, p< .01), psychosocial quality of life (r=.35, p
Databáze: OpenAIRE
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