Randomized trial of inosine for urate elevation in amyotrophic lateral sclerosis.

Introduction/aims: Higher urate levels are associated with improved ALS survival in retrospective studies, however whether raising urate levels confers a survival advantage is unknown. In the Safety of Urate Elevation in Amyotrophic Lateral Sclerosis (SURE-ALS) trial, inosine raised serum urate and was safe and well-tolerated. The SURE-ALS2 trial was designed to assess longer term safety.

Development and Validation of the Pediatric Hypersomnolence Survey.

Background And Objectives: Narcolepsy and idiopathic hypersomnia usually begin in early adolescence, but diagnostic delays ranging from 5 to 10 years are common, affecting disease burden. To improve early identification of these treatable conditions, we developed and validated the Pediatric Hypersomnolence Survey (PHS).

Methods: Content was developed through literature review, patient focus groups, interviews with experts in the field, and field testing.

Stability of nocturnal wake and sleep stages defines central nervous system disorders of hypersomnolence.

Study Objectives: We determine if young people with narcolepsy type 1 (NT1), narcolepsy type 2 (NT2), and idiopathic hypersomnia (IH) have distinct nocturnal sleep stability phenotypes compared to subjectively sleepy controls.

Methods: Participants were 5- to 21-year old and drug-naïve or drug free: NT1 (n = 46), NT2 (n = 12), IH (n = 18), and subjectively sleepy controls (n = 48). We compared the following sleep stability measures from polysomnogram recording between each hypersomnolence disorder to subjectively sleepy controls: number of wake and sleep stage bouts, Kaplan-Meier survival curves for wake and sleep stages, and median bout durations.

Defining disrupted nighttime sleep and assessing its diagnostic utility for pediatric narcolepsy type 1.

Study Objectives: Disrupted nighttime sleep (DNS) is a core narcolepsy symptom of unconsolidated sleep resulting from hypocretin neuron loss. In this study, we define a DNS objective measure and evaluate its diagnostic utility for pediatric narcolepsy type 1 (NT1).

Methods: This was a retrospective, multisite, cross-sectional study of polysomnograms (PSGs) in 316 patients, ages 6-18 years (n = 150 NT1, n = 22 narcolepsy type 2, n = 27 idiopathic hypersomnia, and n = 117 subjectively sleepy subjects).

Impaired memory consolidation in children with obstructive sleep disordered breathing.

Memory consolidation is stabilized and even enhanced by sleep (and particularly by 12-15 Hz sleep spindles in NREM stage 2 sleep) in healthy children but it is unclear what happens to these processes when sleep is disturbed by obstructive sleep disordered breathing. This cross-sectional study investigates differences in declarative memory consolidation among children with primary snoring (PS) and obstructive sleep apnea (OSA) compared to controls. We further investigate whether memory consolidation group differences are associated with NREM stage 2 (N2) sigma (12-15 Hz) or NREM slow oscillation (0.

Listening to the Patient Voice in Narcolepsy: Diagnostic Delay, Disease Burden, and Treatment Efficacy.

Study Objectives: Describe common symptoms, comorbidities, functional limitations, and treatment responsiveness among patients with narcolepsy. Investigate the effect of pediatric onset of narcolepsy symptoms on time to diagnosis of narcolepsy and presence of comorbid depression.

Methods: Cross-sectional survey of 1,699 people in the United States with self-reported diagnosis of narcolepsy.

"Look who's talking!" Gaze Patterns for Implicit and Explicit Audio-Visual Speech Synchrony Detection in Children With High-Functioning Autism.

Conversation requires integration of information from faces and voices to fully understand the speaker's message. To detect auditory-visual asynchrony of speech, listeners must integrate visual movements of the face, particularly the mouth, with auditory speech information. Individuals with autism spectrum disorder may be less successful at such multisensory integration, despite their demonstrated preference for looking at the mouth region of a speaker.