Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
Child; Humans; Adult; Prognosis; Aged; Middle Aged; Respiration; adolescent; Preschool; 80 and over; Pain/etiology; Q3 Literature Search; Age of Onset; Age Distribution; Artificial/utilization; Fatigue/etiology; Glycogen Storage Disease Type II/complications/diagnosis/rehabilitation; Movement Disorders/etiology; Respiration Disorders/etiology/therapy; Self-Help Devices/utilization
Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of the kind and severity of symptoms and the natural course of the disease in the patient population. A detailed questionnaire covering the patients' medical history and current situation was developed and information was gathered from 54 Dutch patients. The mean age of the participants was 48.6 +/- 15.6 years. The first complaints started at a mean age of 28.1 +/- 14.3 years and were mostly related to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood. Twenty-eight percent of the patients waited >5 years for the final diagnosis after the first visit to a physician for disease-related complaints. At the time of questionnaire completion, 48% of the study population used a wheelchair and 37% used artificial ventilation. Movements such as rising from an armchair, taking stairs or getting upright after bending over were difficult or impossible for more than two-thirds of the respondents. The age at onset, the rate of disease progression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indicated being troubled by fatigue and 46% by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease severity in a large group of Dutch patients. We conclude that early manifestations in childhood require proper attention to prevent unnecessary delay of the diagnosis. The follow-up of patients with late-onset Pompe's disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.
2005
Hagemans ML; Winkel LP; Van Doorn PA; Hop WJ; Loonen MC; Reuser AJ; Van der Ploeg AT
Brain
2005
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1093/brain/awh384" target="_blank" rel="noreferrer">10.1093/brain/awh384</a>
The Measurement of Symptoms in Children with Cancer
Child; Female; Humans; Male; symptoms; Pediatrics; Longitudinal Studies; Sleep Stages; Children; adolescent; Pain/etiology; Oncology at EOL; cancer; Cough/etiology; Fatigue/etiology; Eating Disorders/etiology; malignancy; Nausea/etiology; Neoplasms/complications/physiopathology/psychology; symptom distress
The purpose of this study was to determine symptom prevalence, characteristics, and distress in children with cancer. The Memorial Symptom Assessment Scale (MSAS) 10–18, a 30-item patient-rated instrument adapted from a previously validated adult version, provided multidimensional information about the symptoms experienced by children with cancer. This instrument was administered to 160 children with cancer aged 10–18 (45 inpatients, 115 outpatients). To confirm the instrument's reliability and validity, additional data about symptoms were collected from both the parents and the medical charts, and retesting was performed on a subgroup of inpatients. Patients could easily complete the scale in a mean of 11 minutes. The analyses supported the reliability and validity of the MSAS 10–18 subscale scores as measures of physical, psychological, and global symptom distress, respectively. Symptom prevalence ranged from 49.7% for lack of energy to 6.3% for problems with urination. The mean (± SD) number of symptoms per inpatient was 12.7 ± 4.9 (range, 4–26), significantly more than the mean 6.5 ± 5.7 (range, 0–28) symptoms per outpatient. Patients who had recently received chemotherapy had significantly more symptoms than patients who had not received chemotherapy for more than 4 months (11.6 ± 6.0 vs. 5.2 ± 5.1), and those patients with solid tumors had significantly more symptoms than patients with either leukemia, lymphoma, or central nervous system malignancies (9.9 ± 7.0 vs. 6.8 ± 5.5 vs. 6.8 ± 5.0 vs. 8.0 ± 6.1). The most common symptoms (prevalence > 35%) were lack of energy, pain, drowsiness, nausea, cough, lack of appetite, and psychological symptoms (feeling sad, feeling nervous, worrying, feeling irritable). Of the symptoms with prevalence rates > 35%, those that caused high distress in more than one-third of patients were feeling sad, pain, nausea, lack of appetite, and feeling irritable. Subscale scores demonstrated large variability in symptom distress and could identify subgroups with high distress. The prevalence, characteristics, and distress associated with physical and psychological symptoms could be quantified in older children with cancer. The data confirm a high prevalence of symptoms overall and the existence of subgroups with high distress associated with one or multiple symptoms. Symptom distress is relatively higher among inpatients, children with solid tumors, and children who are undergoing antineoplastic treatment. Systematic symptom assessment may be useful in future epidemiological studies of symptoms and in clinical chemotherapeutic trials. Symptom epidemiology may also provide a focus for future clinical trials related to symptom management in children with cancer.
2000-05
Collins J J; Byrnes ME; Dunkel IJ; Lapin J; Nadel Traci; Thaler H; Polyak Tanya; Rapkin B; Portenoy RK
Journal Of Pain And Symptom Management
2000
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/S0885-3924(00)00127-5" target="_blank" rel="noreferrer">10.1016/S0885-3924(00)00127-5</a>