Hypnotic Discontinuation in Chronic Insomnia.

Insomnia disorder is common in adults and children. The estimated prevalence ranges from 9% to 15% in the general population, with higher prevalence in certain subpopulations. Hypnotic medications are those that tend to produce sleep and are frequently used to treat insomnia. Commonly used hypnotics in adults include benzodiazepines (BZDs), BZD receptor agonists, antihistamines, antidepressants, melatonin receptor agonists, orexin receptor antagonists, and antipsychotics. However, hypnotic discontinuation is difficult and often unsuccessful. This article discusses strategies to discontinue hypnotics and evidence supporting their use.

Hypnotic Discontinuation in Chronic Insomnia.

Patients with chronic insomnia are commonly prescribed hypnotic medications. The long-term effects of chronic hypnotics are not known and discontinuation is encouraged but often difficult to achieve. A gradual taper is preferred to abrupt cessation to avoid rebound insomnia and withdrawal symptoms. Written information provided to the patient about medication discontinuation may be helpful. Cognitive behavioral therapy or behavioral therapies alone can improve hypnotic discontinuation outcomes. There is limited evidence for adjunct medications to assist in hypnotic cessation for insomnia.

Escitalopram for recurrent isolated sleep paralysis.

Recurrent isolated sleep paralysis can be very disturbing and provoke anxiety. The majority of patients can be treated conservatively with cognitive and behavioural therapies. However, some patients may benefit from a pharmacologic intervention. With only scant available evidence, there are currently no standardized pharmacologic treatment recommendations for recurrent isolated sleep paralysis. We report the first two cases of escitalopram used to successfully treat recurrent isolated sleep paralysis. Escitalopram, the most selective of the selective serotonin reuptake inhibitors, generally improves subjective sleep quality, making it an appealing treatment option.

Hypnotic Discontinuation in Chronic Insomnia.

Patients with chronic insomnia are commonly prescribed hypnotic medications. The long-term effects of chronic hypnotics are not known and discontinuation is encouraged but often difficult to achieve. A gradual taper is preferred to abrupt cessation to avoid rebound insomnia and withdrawal symptoms. Written information provided to the patient about medication discontinuation may be helpful. Cognitive behavioral therapy or behavioral therapies alone can improve hypnotic discontinuation outcomes. There is limited evidence for adjunct medications to assist in hypnotic cessation for insomnia.

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.

Prolidase deficiency (PD) is a rare genetic disorder caused by mutations in the peptidase D (PEPD) gene, affecting collagen degradation. Features include lower extremity ulcers, facial dysmorphism, frequent respiratory infections, and intellectual disability, though there is significant intra- and interfamilial variability. Twenty-eight mutations have been previously reported, all either small deletions/duplications or point mutations discovered by enzyme or DNA assays. PD has been reported in patients of various ethnic backgrounds, but never in the Mexican-American population. We describe the first Mexican-American patient with PD, who presented with typical facial features, developmental delay, microcephaly, and xerosis. Chromosome microarray analysis (CMA) revealed a homozygous deletion in the region of 19q13.11, estimated to be between 124.79 and 195.72 kb in size, representing the largest PEPD gene deletion reported to date and the first discovered by CMA.

Sleep in the Pediatric Population.

This article provides an overview of common pediatric sleep disorders encountered in the neurology clinic, including restless legs syndrome, narcolepsy, parasomnias, sleep-related epilepsy, and sleep and headaches. An overview of each is provided, with an emphasis on accurate diagnosis and treatment. It is important in comprehensive neurologic care to also obtain a sleep history, because treating the underlying sleep condition may improve the neurologic disorder.

Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine.

BACKGROUND AND AIM: Mucopolysaccharidosis IVA (MPS IVA) leads to skeletal dysplasia through excessive storage of chondroitin-6-sulfate and keratan sulfate (KS). KS is synthesized mainly in cartilage and released into circulation, making it a critical biomarker for MPS IVA to evaluate clinical course and effectiveness of therapies. Therefore, an accurate and sensitive method is required to measure KS levels. MATERIAL AND METHODS: Using sandwich ELISA and liquid chromatography tandem mass spectrometry (LC/MS/MS) assays, we measured KS levels in blood and urine from MPS IVA patients and healthy controls to evaluate comparability of results. Blood (patients, n = 110; controls, n = 364) and urine (patients, n = 103; controls, n = 326) specimens were obtained. RESULTS: Plasma and urine KS measurements in patients were age-dependent and higher than age-matched controls. We observed a moderate correlation (r = 0.666; P < 0.001) between urine KS measurements and a weak correlation (r = 0.333; P = 0.002) between plasma KS measurements by ELISA and LC/MS/MS methods in patients. No correlation was found between plasma KS measurements in controls. The difference between KS measurements assayed by LC/MS/MS and ELISA was greater in controls than in patients. A moderate correlation between blood and urine KS measurements in the same individual was observed. CONCLUSION: These findings indicate that both methods to measure blood and urine KS are suitable for diagnosis, monitoring therapies, and longitudinal assessment of the disease course in MPS IVA, but the LC/MS/MS method measures over 10 times more KS present in body fluids.