Post-PICU sleep efficiency and quality of life in infants and toddlers with acquired brain injury.

Study Objectives: We aimed to investigate the use of sleep efficiency (SE) as a measure of sleep disturbance in infants and toddlers with acquired brain injury (ABI) and evaluate associations between SE and child health-related quality of life and family outcomes.

Methods: Retrospective cohort study of 101 children ages 3-36 months who survived critical care for ABI. SE was quantified from the Brief Infant Sleep Questionnaire as a ratio of nighttime sleep to total time in bed; poor SE was defined as < 80%.

Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.

Pegvaliase is approved to reduce phenylalanine (Phe) levels for people with phenylketonuria (PKU). PRISM-1 (NCT01819727) and PRISM-2 (NCT01889862) data were analyzed to evaluate the relationship between Phe and inattention in adult participants with PKU. In the modified-intent-to-treat population (N = 156), baseline mean (SE) plasma Phe was 1263 (29) μmol/L and the Attention Deficit Hyperactivity Disorder Rating Scale-IV Inattentive (IA) symptoms score was 9.

Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature.

Sensitive, reliable measurement instruments are critical for the evaluation of disease progression and new treatments that affect the brain in the mucopolysaccharidoses (MPS). MPS I, II, and III have early onset clinical phenotypes that affect the brain during development and result in devastating cognitive decline and ultimately death without treatment. Comparisons of outcomes are hindered by diverse protocols and approaches to assessment including applicability to international trials necessary in rare diseases.

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of reliable data across study sites difficult.

Identification and treatment of obesity as a standard of care for all patients in children's hospitals.

Obese children and adolescents have unique needs for specialized medical equipment while hospitalized and might require special diets and physical activity options as part of their medical treatment. It is important that patients with a diagnosis of obesity be identified on admission so that appropriate equipment and resources can be provided. We examined what components a healthy hospital environment should include and sought to determine if children's hospitals provide a healthy hospital environment that offers these components.

Beyond executive function: non-executive cognitive abilities in individuals with PKU.

Individuals with early-treated phenylketonuria (ETPKU) most often present with impairment in executive function (EF) and average intelligence compared to the general population. The topic of this review, which is less often discussed, is non-EF impairments that may be associated with ETPKU. Studies that have included assessment of non-EF cognitive functions such as information processing speed, fine motor skills, and perception and visual-spatial abilities suggest that individuals with ETPKU are compromised in these areas.