Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.

Muscle strength is reduced in children with pulmonary arterial hypertension.

Muscle strength is decreased in adults with pulmonary arterial hypertension (PAH). We aim to investigate muscle strength in children with PAH in relation to a cohort of healthy children, and investigate correlations with disease severity markers. This prospective study included children with PAH aged 4-18 years, who visited the Dutch National Referral Center for Pulmonary Hypertension in Childhood between October 2015 and March 2016.

Axonal abnormalities in vanishing white matter.

Objective: We aimed to study the occurrence and development of axonal pathology and the influence of astrocytes in vanishing white matter.

Methods: Axons and myelin were analyzed using electron microscopy and immunohistochemistry on and single- and double-mutant mice and patient brain tissue. In addition, astrocyte-forebrain co-culture studies were performed.

Copy number variation in a hospital-based cohort of children with epilepsy.

Objective: To evaluate the diagnostic yield of microarray analysis in a hospital-based cohort of children with seizures and to identify novel candidate genes and susceptibility loci for epilepsy.

Methods: Of all children who presented with their first seizure in the University Medical Center Groningen (January 2000 through May 2013) (n = 1,368), we included 226 (17%) children who underwent microarray analysis before June 2014. All 226 children had a definite diagnosis of epilepsy.

The Frequency and Self-perceived Impact on Daily Life of Motor and Non-motor Symptoms in Cervical Dystonia.

Background: Evidence suggests that non-motor symptoms (NMS) are the most important predictors of decreased health-related quality of life (HR-QoL) in patients with cervical dystonia (CD). In this study, we evaluate an NMS screening list and examine the influence of motor symptoms and NMS on HR-QoL.

Methods: In 40 patients with CD, the frequency of NMS was evaluated using an extended NMS questionnaire.

Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients.

Background: Nonmotor symptoms (NMS) are highly prevalent in cervical dystonia (CD). In general, fatigue and sleep are important NMS that determine a decreased health-related quality of life (HR-QoL), but their influence in CD is unknown. The authors systematically investigated fatigue, excessive daytime sleepiness (EDS), and sleep quality in patients with CD and controls and assessed the influence of psychiatric comorbidity, pain, and dystonia motor severity.