CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)

Title

CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL)

Creator

Heikkila E; Hatonen T H; Telakivi T; Laakso M L; Heiskala H; Salmi T; Alila A; Santavuori P

Publisher

American Journal of Medical Genetics

Date

1995

Subject

children; Genetics & Heredity; sleep; body temperature; circadian rhythms; cortisol; disturbance; melatonin; mental handicap; motor activity; neuronal ceroid lipofuscinosis; radioimmunoassay; retina; sleep disturbance/disorders; NCL3; trajectory; characteristics

Description

Sleep disorders are common in NCL patients, The patients have problems such as frequent awakenings, difficulties with sleep onset, nightmares, and night terrors, The aim of the study was to examine whether the sleep disturbance in NCL can be explained on the basis of desynchronised circadian rhythms, Therefore we studied diurnal patterns of melatonin, cortisol, body temperature, and motor activity of 14 patients, The group consisted of 8 JNCL patients, 5 INCL children, and one boy with Jansky-Bielschowsky disease of the variant type, There were healthy age- and sex-matched control subjects, The blood samples for serum melatonin and cortisol were collected every 2 hours during 24-hour periods, Body temperature was recorded continuously for a 24 hour period by a polygraph, Diurnal motor activity was measured by wrist actigraphy for 5 days, In most of our patients sleep was fragmented and the sleep phase was irregular, Disturbances in the daily hormonal rhythms occurred only in the minority of the patients and only at an advanced stage of the disease, Although disturbances in the body temperature rhythm were found in about half of the patients, a general failure in the circadian regulatory system does not explain the frequent disturbances of the sleep-wake cycle of the NCL patients. (C) 1995 Wiley-Liss, Inc.

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

Heikkila E; Hatonen T H; Telakivi T; Laakso M L; Heiskala H; Salmi T; Alila A; Santavuori P, “CIRCADIAN-RHYTHM STUDIES IN NEURONAL CEROID-LIPOFUSCINOSIS (NCL),” Pediatric Palliative Care Library, accessed January 26, 2022, https://pedpalascnetlibrary.omeka.net/items/show/16683.

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