Quality of life in children with primary antibody deficiency.
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ABSTRACT:
SUBMITTER: Titman P
PROVIDER: S-EPMC4165866 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundCommon variable immunodeficiency (CVID) and other primary antibody deficiencies (PAD) are a heterogeneous group of >?300 congenital disorders affecting the immune system. Until recently, efforts to measure health-related quality of life (QoL) in PAD patients have utilised generic QoL tools and disease-specific tools for other conditions. Still, the full impact of the disease is probably not understood. We evaluated the performance of the CVID_QoL, a novel disease-specific QoL instrument for adults with CVID, on Norwegian PAD patients and compared the results to those of the generic WHOQOL-BREF.MethodsRespondents were recruited through the Norwegian Centre for Rare Disorders' patient database. Included patients fulfilled the following criteria (all three): 1.) Age ?18 years, 2.) a PAD diagnosis, 3.) currently on immunoglobulin therapy. The CVID_QoL is a 32-item questionnaire. Global CVID_QoL scores were compared between Norwegian PAD patients and Italian CVID patients.ResultsIn total, 83 PAD patients filled out the CVID_QoL, 63% had CVID, 76% were females. 32 patients filled out the WHOQOL-BREF. Feasibility was high (<1% missing). Internal consistency for the emotional- (Cronbach's ?-value = 0.91) and relational functioning (? = 0.77) subscales was high, but questionable for the gastrointestinal and skin symptoms subscale (? = 0.66). Convergent validity varied from weak to strong (range 0.3-0.8). Floor and ceiling effects were present.ConclusionsAlthough many disease-specific characteristics are probably shared with CVID and other PAD, the CVID_QoL captures some, but not all, dimensions of PAD patients' QoL. More evaluations of the CVID_QoL's performance in different contexts are needed.
| S-EPMC6391500 | biostudies-literature
Project description:Background:Fatigue, sleep disturbance and altered mood are frequently reported in patients with primary antibody deficiency syndrome (PADS) on adequate immunoglobulin replacement therapy. This study aimed to determine the frequency of symptoms compatible with chronic fatigue syndrome (CFS) in patients with PADS. Methods:The study involved the distribution of 682 self-completed postal questionnaires to ascertain the presence and frequency of symptoms compatible with CFS in patients with PADS. The reporting of symptoms for each patient were scored against the CFS diagnostic criteria used within our own South London Chronic Fatigue service. Results:The frequency of symptoms compatible with CFS were evident in 26 of the 188 patients (16.25%) returning adequately completed questionnaires. We considered a bias in the return of questionnaires amongst PADS patients with fatigue to be likely. As such we estimated the minimum frequency of CFS in patients with PADS to be 4% based on the 682 PAD patients to whom the questionnaire was distributed. This was significantly higher than the 0.5% estimate of the prevalence of CFS in the community in western populations. While the presence of significant fatigue correlated with the presence of anxiety and depression, there was no association with self-reported lung damage. Sleep disturbance affected 60% of the PAD patients returning satisfactory questionnaires and as expected the CFS score was higher in those with greater physical limitation. Conclusions:We conclude that patients with PADS have a high frequency of fatigue, low mood and anxiety. We suggest routine questioning for the symptoms of fatigue, disturbed sleep and altered mood in patients with PADS. The use of several treatment strategies in CFS may prove beneficial in improving the quality of life of patients with PAD.
| S-EPMC7106611 | biostudies-literature
Project description:BackgroundLiving with a chronic disease, such as primary antibody deficiency, will often have consequences for quality of life. Previous quality-of-life studies in primary antibody deficiency patients have been limited to different treatment methods. We wanted to study how adults with primary antibody deficiencies manage their conditions and to identify factors that are conducive to coping, good quality of life and hope.MethodsQuestionnaires were sent to all patients > or =20 years of age with primary antibody deficiencies who were served by Rikshospitalet University Hospital. The questionnaires consisted of several standardized scales: Ferrans and Powers Quality of Life Index (QLI), Short Form-36 (SF-36), Jalowiec Coping Scale (JCS), Nowotny Hope Scale (NHS), and one scale we devised with questions about resources and pressures in the past. Of a total of 91, 55 patients (aged 23-76 years) answered the questionnaires. The questionnaire study were supplemented with selected interviews of ten extreme cases, five with low and five with high quality of life scores.ResultsAmong the 55 patients, low quality of life scores were related to unemployment, infections in more than four organs, more than two additional diseases, or more than two specific occurrences of stress in the last 2-3 months. Persons with selective IgA deficiency had significantly higher QLI scores than those with other antibody deficiencies. An optimistic coping style was most frequent used, and hope values were moderately high. Based on the interviews, the patients could be divided into three groups: 1) low QLI scores, low hope values, and reduced coping, 2) low QLI scores, moderate hope values, and good coping, and 3) high QLI scores, moderate to strong hope values, and good coping. Coping was related to the patients' sense of closeness and competence.ConclusionLow quality of life scores in adults with primary antibody deficiencies were linked to unemployment and disease-related strains. Closeness and competence were preconditions for coping, quality of life and hope. The results are valuable in planning care for this patient group.
| S-EPMC1177979 | biostudies-literature
Project description:The phenotype of primary immunodeficiency disorders (PID), and especially common variable immunodeficiency (CVID), may be dominated by symptoms of autoimmune disorders. Furthermore, autoimmunity may be the first manifestation of PID, frequently preceding infections and the diagnosis of hypogammaglobulinemia, which occurs later on. In this case, distinguishing PID from hypogammaglobulinemia secondary to anti-inflammatory treatment of autoimmunity may become challenging. The aim of this study was to evaluate the diagnostic accuracy of peripheral blood lymphocyte phenotyping in resolving the diagnostic dilemma between primary and secondary hypogammaglobulinemia. Comparison of B and T cell subsets from patients with PID and patients with rheumatic disease, who developed hypogammaglobulinemia as a consequence of anti-inflammatory regimes, revealed significant differences in proportion of naïve B cells, class-switched memory B cells and CD21low B cells among B cells as well as in CD4+ memory T cells and CD4+ T follicular cells among CD4+ T cells. Identified differences in B cell and T cell subsets, and especially in the proportion of class-switched memory B cells and CD4+ T follicular cells, display a considerable diagnostic efficacy in distinguishing PID from secondary hypogammaglobulinemia due to anti-inflammatory regimens for rheumatic disease.
| S-EPMC7230453 | biostudies-literature
Project description:Primary carnitine deficiency is a rare autosomal recessive disease associated with acute hypoketotic hypoglycaemia, cardiomyopathy and sudden cardiac death. Effective treatment with carnitine supplementation is available. An 18 months old boy, who presented with cardiomyopathy was diagnosed with primary carnitine deficiency, and carnitine supplementation resulted in a full recovery. At age 13 years, he discontinued his medication and at 20 years, he discontinued clinical monitoring. Nine years later, age 29, he presented with heart failure and atrial fibrillation and was admitted to an intensive care unit, where he was treated with furosemide, enoximone and intravenous carnitine supplementation, this lead to improved cardiac function within 2 weeks, and with continued oral carnitine supplements, his left ventricular ejection fraction normalised. The last 8 years were uneventful and he continued to attend his regular follow-up visits at a specialised metabolic outpatient clinic. We report recurrent reversible severe heart failure in a patient with primary carnitine deficiency; it was directly related to non-compliance to carnitine supplementation (and monitoring). This case report emphasises first, the importance of continued monitoring of metabolic disease patients, second, the potential reversibility of cardiomyopathy in an adult patient, and third, the potential risks in the period of transition from the paediatric to adult care. This is an age where young adults desire to be healthy and ignore the need for ongoing medical treatment, even as simple as oral suppletion. Before they reach this age, adequate disease insight and self-management of the disease should be promoted.
| S-EPMC9626665 | biostudies-literature
Project description:ARHGEF1 is a RhoA-specific guanine nucleotide exchange factor expressed in hematopoietic cells. We used whole-exome sequencing to identify compound heterozygous mutations in ARHGEF1, resulting in the loss of ARHGEF1 protein expression in 2 primary antibody-deficient siblings presenting with recurrent severe respiratory tract infections and bronchiectasis. Both ARHGEF1-deficient patients showed an abnormal B cell immunophenotype, with a deficiency in marginal zone and memory B cells and an increased frequency of transitional B cells. Furthermore, the patients' blood contained immature myeloid cells. Analysis of a mediastinal lymph node from one patient highlighted the small size of the germinal centers and an abnormally high plasma cell content. On the molecular level, T and B lymphocytes from both patients displayed low RhoA activity and low steady-state actin polymerization (even after stimulation of lysophospholipid receptors). As a consequence of disturbed regulation of the RhoA downstream target Rho-associated kinase I/II (ROCK), the patients' lymphocytes failed to efficiently restrain AKT phosphorylation. Enforced ARHGEF1 expression or drug-induced activation of RhoA in the patients' cells corrected the impaired actin polymerization and AKT regulation. Our results indicate that ARHGEF1 activity in human lymphocytes is involved in controlling actin cytoskeleton dynamics, restraining PI3K/AKT signaling, and confining B lymphocytes and myelocytes within their dedicated functional environment.
| S-EPMC6391114 | biostudies-literature
Project description:BackgroundDown Syndrome (DS; OMIM #190685), known as trisomy 21, is one of the most common genetic disorders in the human population and the commonest known cause of intellectual disability. The study was conducted to investigate the quality of life (QoL) of children with DS syndrome and its impact on family functioning.Purpose of studyTo assess the quality of life of children with trisomy 21 and the impact of the disorder on the family.MethodsWe used a cross-sectional questionnaire study. The respondents were 52 parents of children with trisomy 21. The following structured questionnaires were used: the PedsQL™ 4.0 Generic Core Scales, the PedsQL™ Family Impact Module and Study-Specific Questionnaire (SSQ).ResultsThe combined scores, with a mean value of approximately 55 out of a possible 100 points, indicated a significant impact of the child's genetic defect on family functioning. In the overall QOL, the highest rated domain was physical functioning (x̅ =60.14; SD = 23.82) and the lowest was school functioning (x̅ =51.36; SD = 18.72). Better school functioning (p = 0.022) was reported for girls. The presence of reduced muscle tone also had a negative impact on the child's functioning in the physical (p = 0.036), emotional (p = 0.011), psychosocial (p = 0.027) and overall QOL domains (p = 0.023).ConclusionOverall, our results showed that the quality of life of children with trisomy 21 is impaired. There was a positive association between the child's QOL and the QOL of their parents, as well as the general functioning of the child's whole family. For this reason, an improvement in the QOL of parents and the family functioning is closely related to an increased QOL of the child. The continuous deepening of knowledge of QOL in individual trisomy 21 management allows for better preparation and ongoing care for the patients concerned.
| S-EPMC10756234 | biostudies-literature
Project description:AimsTo evaluate the health-related quality of life (HRQL) and its correlates in children and adolescents with narcolepsy.MethodsWe compared the clinical characteristics of control subjects and patients with primary narcolepsy from data collected at the National Reference Centers for Narcolepsy.ResultsThe cohort included 69 control subjects (29 boys) and 117 patients (65 boys; 59 de novo patients). Cataplexy was present in 81% and DQB1*0602 was positive in 91%. The control children were older (13.5±3.2 vs. 11.6±3.1 years, P<0.001) and less obese (1.4% vs. 60%, P<0.001). Twenty-five percent of the patients and 15.6% of the control subjects had clinically significant depressive feelings on Children's Depression Inventory (CDI?16) (NS). Fifty-three narcoleptic and 43 control adolescents, 31 narcoleptic children and 23 control children filled out the HRQL questionnaires as well as 83 parents of patients and 60 parents of control subjects. Narcolepsy seriously impacts HRQL in terms of vitality, physical well-being, relations with friends and leisure activities, especially in adolescents. Depression was the factor that most affected HRQL in both narcoleptic and control subjects. For the control subjects and the narcoleptic patients, when the CDI score was entered into the multivariable regression model adjusted for gender and age, no other continuous independent variable could significantly increase the likelihood of the model. When the CDI score increased by 1, the mean HRQL score decreased by 1.7 for narcoleptic patients and 1.5 for control subjects. Apnea-hypopnoea index, diagnosis delay, disease duration, obesity, the presence of cataplexy or treatment had no effects on HRQL.ConclusionsNarcoleptic children and adolescents were at high risk for poor HRQL. Depressive symptoms had a major impact on HRQL. We recommend a more thorough assessment and management of psychological health in this population.
| S-EPMC6493048 | biostudies-literature
Project description:Although reporting vision-related quality of life (VRQoL) outcomes has become increasingly common in adult glaucoma studies, little is known about the influence of disease severity, medication burden, and surgical experience on the quality of life of children with glaucoma. We tested the feasibility of administering a self-reported VRQoL instrument and describe the VRQoL in children with glaucoma. Better VRQoL was correlated with higher visual acuity in the better-seeing eye but not the number of surgeries the child had undergone or the number of prescribed eyedrops.
| S-EPMC3973725 | biostudies-literature
Project description:AIM:We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS:Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber syndrome-related medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P < 0.05. RESULTS:Cognitive function quality of life was significantly lower (P < 0.001) in pediatric patients with Sturge-Weber syndrome compared with referenced control subjects. Male gender (P = 0.02) was associated with lower cognitive function Neuro-QoL. The extent of skin (R = -0.46, P = 0.04), total eyelid port-wine birthmark (R = -0.56, P = 0.007), eye (R = -0.58, P = 0.005), and total Sturge-Weber syndrome involvement (R = -0.63, P = 0.002) were negatively correlated with cognitive function Neuro-QoL. A younger age at seizure onset was associated with lower cognitive function Neuro-QoL (hazard ratio = 0.90, P = 0.004) even after controlling for extent of brain, skin, or eye involvement. Antidepressant use was associated with lower cognitive function Neuro-QoL (P = 0.005), and cognitive function Neuro-QoL was negatively correlated with depression Neuro-QoL; however, after adjusting for depression this relationship was no longer significant. CONCLUSIONS:The results suggest targeting cognitive function Neuro-QoL in treatment trials and reiterate the prognostic value of early seizure onset. In addition, sex-related differences were noted, which should be further studied.
| S-EPMC7288751 | biostudies-literature