Background For young people with rare conditions associated with intellectual disability, the transfer from paediatric to adult healthcare providers is often complicated. European Reference Network ERN-ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) on Rare Congenital Malformations …

SMPD4 is a neutral sphingomyelinase that plays an important role in sphingolipid metabolism. Sphingolipids are a family of lipid molecules abundantly present in the brain where they play an important role in the brain development and function due to their essential cellular role as structural components …

In 2016 waren er in Nederland 645.900 mensen bekend bij de huisarts met een vorm van verworven hersenletsel als gevolg van bijvoorbeeld een ongeluk, tumor, herseninfarct, hartstilstand, hersenbloeding of operatie. Dit wordt niet-aangeboren- of verworven hersenletsel genoemd. De gevolgen die hiertoe behoren …

Introduction: Neuromuscular diseases (NMD) are a heterogeneous group of acquired or inherited diseases affecting the peripheral nervous system and muscle mass. The consequences of NMD are loss of muscle mass, function, and posture. Loss of muscle mass causes weakness, a decrease in mobility and cardiac …

Purpose Empowerment in patients can lead to a higher participation in care and self-management skills. However, there are a limited number of high-quality instruments to assess empowerment and its various dimensions in young persons. The aim was to develop and assess the psychometric properties of the …

Purpose: Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an unbalanced form, from a healthy mother to her child with congenital abnormalities probably caused by de novo copy-number changes of dosage …

Objective The aim of this study was to evaluate the effect of the increased cesarean rate for term breech presentation on neonatal outcome. We also investigated whether the clinical case selection for vaginal delivery applied by Dutch obstetricians led to an optimization of neonatal outcome, or whether …

Background. Patients may develop primary (congenital) or secondary (acquired) lymphedema, causing significant physical and psychosocial problems. To plan treatment for lymphedema and monitor a patient's progress, swelling, and problems in functioning associated with lymphedema development should be assessed …

In dit praktijkonderzoek wordt onderzocht of de methodiek die gehanteerd wordt in een zelfgeschreven boekje geschikt is. Het boekje is geschreven voor de minor ‘Beroepsmatig omgaan met rouw- en verliessituaties’. Uit vooronderzoek in de literatuur is voor mij naar voren gekomen dat er vaak gebrekkige …

Niet aangeboren hersenletsel is een aandoening waar veel muziektherapeuten mee te maken hebben. Mensen komen na een CVA of hersentumor, maar ook na ongeval of ziekten als Alzheimer en Parkinson met hersenletsel terecht in een revalidatiecentrum of verpleeghuis. Deze patiënten worden met tal van klachten …