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The sensitivity of physiological measures to evaluate workload was investigated in a simulated flight task. Heart rate, blood pressure (from beat to beat), respiration and eye blinks were recorded in 14 subjects while they performed a complex task in a flight simulator. Workload was manipulated by introducing an additional task and by varying the task(More)
The sensitivity of physiological measures to mental workload was investigated in a flight simulator. Twelve pilots had to fly through a tunnel with varying levels of difficulty. Additionally, they had to perform a memory task with four levels of difficulty. The easiest memory task was combined with the easiest tunnel task and the most difficult memory task(More)
As whole exome sequencing (WES) is just starting to be used as a diagnostic tool in paediatric neurology for children with a neurological disorder, and patient experiences and preferences with regard to counselling are relatively underexplored. This article explores experiences and preferences of parents with pre-test and post-test counselling in a trial(More)
The Radboud University Medical Center was among the first to implement two-step exome sequencing in clinical genetic diagnostics. This study is the first to evaluate patient experiences with gene panels based on exome sequencing, using quantified psychological variables: acceptance, psychological distress, expectations of heredity and unsolicited findings.(More)
The effectiveness of a three-dimensional (3D) auditory display in conveying directional information was investigated in a flight simulation experiment. While flying a simulated fighter aircraft, participants followed a target aircraft that suddenly disappeared and reemerged at an unknown position. The task was to locate and trail the target as quickly as(More)
A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia.(More)
BACKGROUND CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. A consistent feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Other commonly associated congenital(More)
BACKGROUND The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS We estimate the(More)
The availability of commercially produced genomic microarrays has resulted in the wide spread implementation of genomic microarrays, often as a first-tier diagnostic test for copy number variant (CNV) screening of patients who are suspected for chromosomal aberrations. Patients with intellectual disability (ID) and/or multiple congenital anomalies (MCA)(More)