caa a22 4500 467933782 CHVBK 20180406152951.0 cr unu---uuuuu 170328e20061001xx s 000 0 eng 10.1007/s10545-006-0390-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0390-0 Sleep disturbances in aspartylglucosaminuria (AGU): A questionnaire study [Elektronische Daten] [Niki Lindblom, Satu Kivinen, Hannu Heiskala, Maija-Liisa Laakso, Markus Kaski] Summary: Sleep disturbances are common in many progressive metabolic encephalopathies. The possible presence of disturbed sleep-wake behaviour in the lysosomal storage disorder aspartylglucosaminuria, has not been previously studied, however. The sleep-wake behaviour of 81 patients with aspartylglucosaminuria (AGU, age 3-55 years, median 22 years; 42 female and 39 male) and 49 controls (age 2-57 years, median 18 years; 25 female and 24 male) was assessed through a postal survey. A slightly modified version of the validated Basic Nordic Sleep Questionnaire was used. Fifty-eight per cent of the AGU patients were reported to suffer daily from a sleep-related problem (controls 31%, p < 0.01). In AGU adults (age >17 years) and children (age ≤17 years), the corresponding figures were 52% and 61%, respectively (control children 22%, p < 0.05 and control adults 38%, p = 0.06). In AGU children, settling difficulties were reported to occur significantly more commonly than in control children. Children with AGU were also reported to snore more often than were the controls. Adults with this disorder were found to suffer from severely fragmented night-time sleep, which was experienced as highly distressing by the parents and other caregivers. A long night sleep period was reported to be common in the ageing AGU patients (AGU 9.5 ± 1.7 vs controls 7.2 ± 1.0 h, mean ± SD, p < 0.001). Parents and caregivers also often complained about disturbing movements during sleep in AGU patients. In conclusion, both children and adults with aspartylglucosaminuria were reported to display several types of sleep disturbances significantly more commonly than healthy controls. SSIEM and Springer, 2006 Lindblom Niki Rinnekoti Sleep Research Centre, Espoo, Finland aut Kivinen Satu Department of Child Neurology, Hospital for Children and Adolescents, Helsinki, Finland aut Heiskala Hannu Jorvi Hospital, Child Neurology Section, Espoo, Finland aut Laakso Maija-Liisa Department of Child Neurology, Hospital for Children and Adolescents, Helsinki, Finland aut Kaski Markus Department of Child Neurology, Hospital for Children and Adolescents, Helsinki, Finland aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 637-646 0141-8955 29:5<637 2006 29 10545 https://doi.org/10.1007/s10545-006-0390-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0390-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lindblom Niki Rinnekoti Sleep Research Centre, Espoo, Finland aut NATIONALLICENCE 700 1- Kivinen Satu Department of Child Neurology, Hospital for Children and Adolescents, Helsinki, Finland aut NATIONALLICENCE 700 1- Heiskala Hannu Jorvi Hospital, Child Neurology Section, Espoo, Finland aut NATIONALLICENCE 700 1- Laakso Maija-Liisa Department of Child Neurology, Hospital for Children and Adolescents, Helsinki, Finland aut NATIONALLICENCE 700 1- Kaski Markus Department of Child Neurology, Hospital for Children and Adolescents, Helsinki, Finland aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 637-646 0141-8955 29:5<637 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer