Cognitive impairment in rapid-onset dystonia-parkinsonism.

Rapid-onset dystonia-parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls. We studied 22 familial RDP patients, 3 non-motor-manifesting mutation-positive family members, 29 mutation-negative family member controls in 9 families, and 4 unrelated RDP patients, totaling 58 individuals.

Psychiatric disorders in rapid-onset dystonia-parkinsonism.

Objective: Rapid-onset dystonia-parkinsonism (RDP) is caused by a variety of missense mutations in the ATP1A3 gene. Psychiatric comorbidity has been reported, although systematic examination of psychiatric disease in individuals with RDP is lacking. This study examines psychiatric morbidity for 23 patients with RDP in 10 families with family member control subjects and in 3 unrelated patients with RDP, totaling 56 individuals.

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis.

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

Background: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized.

Methods: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales.

Changes in sleep and wake in response to different sleeping surfaces: a pilot study.

Six married couples (12 adults, mean age 34.8 years) were randomized as couples in a cross-over design to sleep on a queen-size conventional mattress for 2 weeks and a specially-designed pressure-relief mattress for 2 weeks. The pressure-relief mattress was designed to reduce the number of contact points exceeding 30 mm Hg.

Dissection of the factors driving the placebo effect in hypnotic treatment of depressed insomniacs.

Objectives: Our prior work has shown that there is improvement in self-reported sleep in persons receiving placebo in hypnotic clinical trials. We examined the components of the "placebo response" in a hypnotic clinical trial.

Methods: This was an exploratory analysis of a randomized, double-blind clinical trial of eszopiclone versus placebo in the treatment of persons with depression and insomnia who were also receiving fluoxetine at a clinic of a teaching hospital.

Treatment of insomnia in depressed insomniacs: effects on health-related quality of life, objective and self-reported sleep, and depression.

Study Objectives: Insomnia is associated with poor health related quality of life (HRQOL) in depressed patients. Prior clinical trials of hypnotic treatment of insomnia in depressed patients have shown improvement in HRQOL, but in these studies HRQOL was relegated to a secondary outcome, and objective measures of sleep were not undertaken.

Design: Double-blind, randomized, placebo-controlled clinical trial.

Prevalence and prediction of primary sleep disorders in a clinical trial of depressed patients with insomnia.

Insomnia-pharmacology clinical trials routinely exclude primary sleep disorders, such as obstructive sleep apnea (OSA) and periodic limb movement disorder (PLMD), with a single night of polysomnography (PSG). Given the expense of PSG, we examined whether a thorough clinical screening, combined with actigraphy, would successfully identify OSA and PLMD as part of baseline screening for a clinical trial of insomnia treatment in depressed patients. Of the 73 patients with a complete baseline dataset, 12 screened positive for OSA/PLMD (AHI > 15, or PLMAI > 15), while 61 "passed" the PSG screen.