Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.
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BACKGROUND: We previously described two members of a family affected by an apparently genetically determined fatal disease characterized clinically by progressive insomnia, dysautonomia, and motor signs and characterized pathologically by severe atrophy of the anterior ventral and mediodorsal thalamic nuclei. Five other family members who died of this disease, which we termed "fatal familial insomnia," had broader neuropathologic changes suggesting that fatal familial insomnia could be a prion disease. METHODS: We used antibodies to prion protein (PrP) to perform dot and Western blot analyses, with and without proteinase K, on brain tissue obtained at autopsy from two patients with fatal familial insomnia, three patients with sporadic Creutzfeldt-Jakob disease, and six control subjects. The coding region of the PrP gene was amplified and sequenced in the samples from the two patients with fatal familial insomnia. Restriction-enzyme analysis was carried out with amplified PrP DNA from 33 members of the kindred. RESULTS: Protease-resistant PrP was found in both patients with fatal familial insomnia, but the size and number of protease-resistant fragments differed from those in Creutzfeldt-Jakob disease. In the family with fatal familial insomnia, all 4 affected members and 11 of the 29 unaffected members had a point mutation in PrP codon 178 that results in the substitution of asparagine for aspartic acid and elimination of the Tth111 I restriction site. Linkage analysis showed a close relation between the point mutation and the disease (maximal lod score, 3.4 when theta was zero). CONCLUSIONS: Fatal familial insomnia is a prion disease with a mutation in codon 178 of the PrP gene, but the disease phenotype seems to differ from that of previously described kindreds with the same point mutation. (+info)
The actions of amylobarbitone sodium, butobarbitone and quinalbarbitone sodium upon insomnia and nocturnal restlessness compared in psychiatric patients.
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Amylobarbitone sodium, butobarbitone, quinalbarbitone sodium, and a placebo were compared in a controlled, double-blind trial in psychiatric patients with insomnia. An apparatus recording movement in bed is described, with sleep assessments by night nurses and patients. All three barbiturates significantly reduced movement and gave significantly longer, less broken and sounder sleep, without increased incidence of "hang-over." There was no follow-on effect from night to night. With effective doses there was no significant difference between these barbiturates in onset and duration of hypnotic action, although usually accepted as either short or intermediate acting. (+info)
A comparison of the effects of six barbiturates and a placebo on insomnia and motility in psychiatric patients.
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Cyclobarbitone, hexobarbitone, quinalbarbitone sodium, pentobarbitone sodium, phenobarbitone sodium, nealbarbitone and a placebo have been compared in a controlled double-blind trial in twenty-four psychiatric patients with insomnia. Each of the barbiturates significantly prolonged sleep and hastened its onset. They also reduced the patients' motility, recorded by an electronic apparatus attached to the bed. There was no clear difference between these barbiturates in onset and duration of action during the 8 hr of recording; some effect upon sleep or motility was present throughout this period. Differences between compounds were of degree rather than of duration of action. Pentobarbitone, quinalbarbitone and phenobarbitone were most effective; cyclobarbitone and hexobarbitone were less effective; nealbarbitone had only a weak hypnotic action. (+info)
Night pain in arthritis: patients at risk from prescribed night sedation.
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To assess the problem of night pain and the use of hypnotic drugs in patients with rheumatic diseases 165 consecutive patients (mean age 58.5 years) were assessed and questioned about night pain and the use of drugs including night sedation. Most of the patients (106 (64%)) were women. A total of 32 (19%) patients were receiving night sedation for a mean duration of 43.9 months. Fourteen patients (13 women) were using these drugs to treat insomnia related to pain. The mean visual analogue pain score for night pain showed a significant difference between those receiving night sedation (5.2) and those who were not (3.7). Of the 70 patients who answered the Stanford Health Assessment Questionnaire (HAQ), those receiving night sedation also had a significantly higher mean score (1.91) than those who were not (1.2), suggesting that patients receiving night sedation were more clinically disabled. Codeine was used by more (34%) patients receiving night sedation than those who were not (18%) suggesting that those receiving night sedation had more pain. These results highlight the need for better pain management in patients with rheumatic diseases to minimise the risk of prescribing addictive drugs such as hypnotic drugs and codeine. (+info)
Medication for sleep-wake disorders.
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Medication is indicated for only a limited number of children's sleep disorders. However, correctly chosen and supervised, pharmacological treatment may be justified and helpful. For a given sleep problem it is important to identify the underlying cause (or sleep disorder) which often calls for treatment of a non-medication type. Where medication is appropriate, cautious use and careful review of the child's physical and psychological state is essential in view of the limited information available on effectiveness and possible short and long term effects. It follows that much further research is required to establish the part medication can play in the care of children with sleep disorders, and also to define the possible effects on sleep and wakefulness of other drugs used in clinical practice. (+info)
Personality features in a sample of psychophysiological insomnia patients.
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The personality is the way people express themselves inside the environment they live. Sleep, quality or quantity, is a way of this physical and psychological expression of well being. Psychological factors, associated with psychophysiological insomnia (PPI) suggest an exaggerated perception of the difficulties to fall asleep. Worries, anxiety and the fear of not sleeping produce a bad sleep quality or sleep misperception. This study aims to identify personality features associated with PPI throughout Rorschach test (RT). METHOD: We studied 32 patients with PPI (22 women), between 29 and 75 years old. We excluded patients with other sleeping or psychiatric disorders. We analysed the data from PPI patients submitted to the RT and we compared our results with the standard data. RESULTS: We noticed a significant increase in global answers and a significant decrease in detailed answers; a trend of a low number of answers; great number of shape and animal answers, especially for women. CONCLUSION: The features of the PPI patient's personality were daily problems insecure and the incapability to avoid or remove them from their thought, making bedtime a time for worries to appear again and motivate insomnia. (+info)
Insomnia is a frequent finding in adults with Asperger syndrome.
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BACKGROUND: Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia). METHODS: 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version.Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. RESULTS: compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20), in sleep diary 75% (15/20) and in free description 85% (17/20) displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. CONCLUSIONS: the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an integral part of the treatment plan in these individuals. Conversely, when assessing adults with chronic insomnia the possibility of autism spectrum disorders as one of the potential causes of this condition should be kept in mind. (+info)
Periodic leg movements during sleep in Japanese community-dwelling adults based on the assessments of their bed partners.
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BACKGROUND: There is little known about epidemiologic evidence on periodic leg movements during sleep (PLMS) for the Japanese. The present study was a cross-sectional epidemiologic study to estimate the prevalence of PLMS and examine the associated factors of PLMS in Japanese community-dwelling adults. METHODS: The subjects were 884 with bed partners or bedroom mates of 1,889 Japanese adults aged 20 years and over randomly selected from the general population. The case ascertainment of PLMS was based on the assessments of their bed partners or bedroom mates using the Pittsburgh Sleep Quality Index. Multiple logistic regression analyses were used for investigating the associated factors. RESULTS: The age-adjusted prevalences (95% confidence interval) were 5.8% (4.7-6.8%) and 1.3% (0.8-1.9%) for 1 to 2-times, and 3-times or greater of PLMS per week during the preceding month, respectively. Those with PLMS were more likely to experience difficulty in initiating sleep, snore during sleep, be depressed, and suffer from peptic ulcer. Sex, age, difficulty in maintaining sleep, excessive daytime sleepiness, medication use to aid sleep, and any psychoactive substances (tobacco, alcohol, and caffeine) were not identified as significant associated factors of PLMS. CONCLUSIONS: The results suggest that the prevalence of PLMS in Japanese community-dwelling adults is not so high as those reported from Western countries, and that PLMS is correlated with some sleep and health disturbances. (+info)