Females experience a more severe disease course in batten disease

Title

Females experience a more severe disease course in batten disease

Creator

Cialone J; Adams H; Augustine E F; Marshall F J; Kwon J M; Newhouse N; Vierhile A; Levy E; Dure L S; Rose K R; Ramirez-Montealegre D; De Blieck E A; Mink J W

Publisher

Journal of Inherited Metabolic Disease

Date

2012

Subject

behavior; tone and motor; NCL3; trajectory; characteristics

Description

Juvenile neuronal ceroid lipofuscinosis (JNCL; CLN3 disease; Batten disease) is an autosomal recessive neurodegenerative disease of childhood. Symptoms typically present at school age with vision loss followed by progressive cognitive decline, motor dysfunction, seizures, and behavior problems. Studies on sex differences in JNCL have yielded mixed results, but parent anecdotes suggest that females experience a more precipitous disease course. Therefore, we sought to determine if sex-based differences exist in JNCL. We used data from the Unified Batten Disease Rating Scale (UBDRS), the Batten Disease Support and Research Association (BDSRA) database, and the PedsQL quality of life (QoL) survey to evaluate sex-based differences in functional independence and time from symptom onset to death. On average, females had JNCL symptom onset one year later and death one year earlier than did males. Despite a later age at onset, females had lower functional capability, earlier loss of independent function, and lower physical QoL. Future research in sex differences in JNCL may help to further understand the biological mechanisms underpinning the disease course and may point to targeted therapies. © SSIEM and Springer 2011.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Citation

Cialone J; Adams H; Augustine E F; Marshall F J; Kwon J M; Newhouse N; Vierhile A; Levy E; Dure L S; Rose K R; Ramirez-Montealegre D; De Blieck E A; Mink J W, “Females experience a more severe disease course in batten disease,” Pediatric Palliative Care Library, accessed July 4, 2022, https://pedpalascnetlibrary.omeka.net/items/show/16610.

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