Sleep disturbances in aspartylglucosaminuria (AGU): A questionnaire study

Abstract

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

Sleep‐related hypermotor seizures in aspartylglucosaminuria: A case report

“…Abnormally low signal intensities in T 2 ‐weighted MRI images of the thalamic regions are a radiologic marker of AGU (Autti et al., 1997). A high prevalence of night awakenings with sleep fragmentation was reported in adult patients with AGU (Lindblom et al., 2006), and video‐polysomnography of our patient confirms that finding. The exact role of thalamic pathology in that sleep disturbance is undetermined.…”

“…No case of hyperkinetic nocturnal frontal lobe seizures has been reported to date. This is surprising given that sleep‐related problems are frequent in patients with AGU and that excess of movements during sleep were among the most common disturbance types reported in a questionnaire study (Lindblom et al., 2006). Furthermore AGU patients with epilepsy showed disturbing movements during sleep significantly more often than did the AGU patients without epilepsy.…”

Predicting health‐related quality of life of parents of children with inherited metabolic diseases

“…First, parents who reported progression of their child's disease in the previous year (30% of our sample) had a significantly larger probability of reporting sleeping problems and problems with vitality. In the literature sleeping problems are more often seen in children with progressive illness (13–15), which may disturb parental sleep. Also, problems related to vitality are reported more often by parents of chronically ill children (16–18).…”

Prevalence and Predictors of Sleep Disturbance among Liver Diseases in Long-Term Transplant Survivors

“…The BNSQ is a quantitative measure of subjective sleep complaints, and has been validated in several studies (14)(15)(16)(17)(18)(19)(20). Three items from this questionnaire have been shown to most closely correlate with objective sleep polysomnography (21,22) and were, therefore, included in the analysis:…”