Looking beyond patients: Can parents' quality of life predict asthma control in children?

BACKGROUND: Social and family factors may influence the probability of achieving asthma control in children. Parents' quality of life has been insufficiently explored as a predictive factor linked to the probability of achieving disease control in asthmatic children. OBJECTIVE: Determine whether the parents' quality of life predicts medium-term asthma control in children. METHODS: Longitudinal study of children between 4 and 14 years of age, with active asthma. The parents' quality of life was evaluated using the specific IFABI-R instrument, in which scores were higher for poorer quality of life. Its association with asthma control measures in the child 16 weeks later was analyzed using multivariate methods, adjusting the effect for disease, child and family factors. RESULTS: The data from 452 children were analyzed (median age 9.6 years, 63.3% males). The parents' quality of life was predictive for asthma control; each point increase on the initial IFABI-R score was associated with an adjusted odds ratio (95% confidence interval) of 0.56 (0.37-0.86) for good control of asthma on the second visit, 2.58 (1.62-4.12) for asthma exacerbation, 2.12 (1.33-3.38) for an unscheduled visit to the doctor, and 2.46 (1.18-5.13) for going to the emergency room. The highest quartile for the IFABI-R score had a sensitivity of 34.5% and a specificity of 82.2% to predict poorly controlled asthma. CONCLUSIONS: Parents' poorer quality of life is related to poor, medium-term asthma control in children. Assessing the parents' quality of life could aid disease management decisions. Pediatr Pulmonol. 2016;51:670-677. © 2015 Wiley Periodicals, Inc.

Association between quality of life in parents and components of asthma control in children.

OBJECTIVE: Describe the association between parents' quality of life and the two components of asthma control in children: impairment and risk. METHODS: Cross-sectional study with children between 4 and 14 years of age with active asthma recruited at primary care centers in Spain. Asthma control was assessed according to the Third National Asthma Expert Panel Report, classifying "impairment" in three levels (well-controlled asthma, partially controlled, and poorly controlled), and "risk" as high or low. The parents' quality of life was evaluated using the specific Family Impact of Childhood Bronchial Asthma Questionnaire instrument (IFABI-R). The association between asthma control and the parents' quality of life was analyzed using multivariate regression models adjusted for other social and family variables. RESULTS: Data from 408 children were analyzed. The parents' quality of life was affected in the partially controlled asthma group when compared with well-controlled asthma, as showed by an increase in IFABI-R scores in all dimensions: functional 17.2% (p < 0.001), emotional 10.4% (p = 0.021), and socio-occupational 6.8% (p = 0.056). The differences were higher in poorly controlled asthma compared with well-controlled asthma: functional 24.3% (p = 0.001), emotional 18.9% (p = 0.008), and socio-occupational 11.5% (p = 0.036). The "risk" component was independently associated with the parents' quality of life. Of all the elements used to assess the control, the only one independently associated with the parents' quality of life was recurrent asthma crisis. CONCLUSIONS: In asthma control, both "impairment" and "risk" in children are gradually associated with the parents' quality of life. The global assessment of the control surpasses the importance of each individual element used in this assessment.

[Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]. / Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en Cataluña. Estudio molecular de la anemia falciforme asociada a alfatalasemia y déficit de G6PD.

BACKGROUND AND OBJECTIVE: The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. PATIENTS AND METHOD: 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. RESULTS: Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples. CONCLUSIONS: This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.

Cribado neonatal de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en Cataluña. Estudio molecular de la anemia falciforme asociada a alfatalasemia y déficit de G6PD / Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency

Fundamento y objetivo: Con los flujos inmigratorios se ha elevado la prevalencia de hemoglobinopatías y déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en nuestra población. La probabilidad de encontrar en un individuo más de un defecto del eritrocito es elevada, lo que comporta una mayor heterogeneidad clínica y dificultades diagnósticas. El objetivo de este trabajo ha sido realizar el diagnóstico precoz de la anemia falciforme mediante cribado neonatal, analizar la prevalencia de herencia conjunta de alfatalasemia, déficit de G6PD y hemoglobina S e identificar los genotipos asociados. Pacientes y método: Se ha estudiado a 4.020 recién nacidos (RN) de población de riesgo y autóctona. El cribado neonatal de hemoglobinopatías se realizó mediante cromatografía líquida de alta resolución y el de déficit de G6PD mediante la técnica de la mancha fluorescente. Se analizó molecularmente la asociación entre el gen ßS y alfatalasemia con deleción ­3.7 Kb. Finalmente se estableció el genotipo de los casos de déficit de G6PD. Resultados: La prevalencia de anemia falciforme en población de riesgo fue de 1/475 RN, y la de déficit de G6PD, de 1/43 RN en población de riesgo y de 1/527 RN en población autóctona. La hemoglobina S se confirmó mediante ARMS (amplification refractory mutation system). La asociación entre el gen ßS y la alfatalasemia con deleción ­3.7 Kb fue de un 32,2%, y entre el gen ßS y el déficit de G6PD, de un 7%. Conclusiones: Se confirma la elevada prevalencia de la anemia falciforme y del déficit de G6PD en población de riesgo, así como la elevada heterogeneidad molecular de ambos defectos. El conocimiento de los genotipos asociados y su relación con la expresión clínica es de gran utilidad para establecer criterios adecuados de diagnóstico y pronóstico

Background and objective: The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. Patients and method: 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between ßS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. Results: Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between ßS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between ßS gene and G6PD deficiency was observed in 7% of the samples. Conclusions: This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis