Imelda JM de Groot

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Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotype-phenotype correlations, we evaluated the clinical and laboratory data of 51 genetically proven A-T patients, and additionally measured ATM protein(More)
OBJECTIVE To investigate the effect of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT) on chronic fatigue in patients with facioscapulohumeral muscular dystrophy (FSHD). METHODS We performed a multicenter, assessor-blinded, randomized clinical trial (RCT). Fifty-seven patients with FSHD type 1 with severe chronic fatigue were(More)
Responsive outcome measures are needed to follow the disease status of Duchenne muscular dystrophy (DMD) patients, as new therapeutic approaches become available for affected boys. Quantitative muscle ultrasound (QMUS) is potentially an attractive follow up tool for DMD because it reflects the severity of the dystrophic process without the need for invasive(More)
BACKGROUND Physical training might delay the functional deterioration caused by disuse in boys with Duchenne muscular dystrophy (DMD). The "No Use Is Disuse" study is the first explorative, randomized controlled trial in boys with DMD to examine whether assisted bicycle training is feasible, safe, and beneficial. METHODS Ambulatory and recently(More)
The biomechanics of swallowing saliva and substances of different consistencies were investigated in healthy children and adults. To this end, the duration and mean amplitude value (MAV) of surface electromyography (sEMG) of the submental muscle group (SMG) activity, the maximum anterior tongue pressure (ATP), and the rise and release slopes of ATP were(More)
OBJECTIVE To describe the impact of a chronic disabling condition on participation and to identify variables that may explain perceived restrictions in participation. STUDY DESIGN Cross-sectional. SETTING People were recruited from the outpatient clinics of two rehabilitation centres and the rehabilitation department of an academic hospital. SUBJECTS(More)
OBJECTIVES To identify baseline patient and treatment characteristics that can predict wheelchair dependency within 2 yr. DESIGN This prospective cohort study included 44 subjects who met study inclusion criteria. The same investigator examined them at 6-mo intervals. Ambulatory status, anthropometric data, muscle strength, range of motion of weight(More)
OBJECTIVES To compare maximal isometric hand strength and fatigue between subjects with hereditary motor and sensory neuropathy (HMSN) and healthy controls and to test the reproducibility of handgrip strength (peak force of handgrip [PFgrip]) and fatigue. DESIGN PFgrip and the decline in PFgrip during 3 sets of 15 contractions were compared. SETTING(More)
AIM To describe the neurobehavioral and developmental profile of very low birthweight (VLBW) preterm infants in early infancy. METHODS Twenty VLBW infants and 10 term control infants were assessed at term, 3 and 6 mo of age. Neurobehavioral assessments included the Neonatal Behavioral Assessment Scale (NBAS) at term; the Infant Behavioral Assessment at(More)
To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = 53), cerebral palsy with dyskinetic(More)