Health-related quality of life in a cohort of youths with type 1 diabetes.

OBJECTIVE: Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.

Health-related quality of life in a cohort of youths with type 1 diabetes

SUMMARY Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.

RESUMO A qualidade de vida relacionada à saúde (HRQOL) no diabetes mellitus tipo 1 (T1DM) tem sido amplamente estudada. Os objetivos deste estudo foram avaliar e identificar os fatores que influenciam a HRQOL de crianças e adolescentes com T1DM. MATERIAL E MÉTODOS: No total, 59 pacientes (9-16 anos, T1DM por ≥1 ano) responderam a uma versão do Instrumento de Qualidade de Vida para Jovens com Diabetes (DQOLY) adaptada aos pacientes brasileiros (IQVJD). Esse instrumento compreende satisfação, impacto e preocupações de domínios, com os menores índices correspondentes a uma melhor HRQOL, e um questionário que reúne parâmetros sociais, demográficos e clínicos. RESULTADOS: A idade média foi de 13,6 anos e 57,6% eram meninas. A idade mediana no diagnóstico foi de 7,16 anos, 63% apresentaram cetoacidose diabética (DKA) no diagnóstico e 29% durante o seguimento. A hemoglobina glicada média (HbA1c) no ano anterior foi de 10%. Todos os pacientes receberam doses múltiplas de insulina (média de 4,2 aplicações/ dia), 74,5% utilizavam análogos de insulina de ação rápida e de ação intermediária e 67,8% usavam canetas para aplicação de insulina. Os resultados do DQOLY estavam dentro do limite de corte para melhor HRQOL. Uma análise isolada de cada domínio e os resultados do questionário mostraram que os seguintes fatores estavam associados a uma maior HRQOL: score z de altura, HbA1c menor, prática de atividade física, uso de caneta, menos hospitalizações e residência em uma área rural. Houve uma alta taxa de cetoacidose diabética no diagnóstico, e o controle metabólico foi inadequado na maioria dos pacientes. Apesar de serem provenientes de famílias de baixa renda, a maioria dos pacientes teve acesso ao tratamento recomendado. CONCLUSÃO: Entre pacientes com T1DM, 71% tinham escores IQVJD compatíveis com melhor HRQOL.

Changes in insulin therapy regimens over 10 yr in children and adolescents with type 1 diabetes attending diabetes camps.

OBJECTIVE: To describe the changes in insulin therapy regimens of children and adolescents with type 1 diabetes over 10 yr and their correlation with hemoglobin A1c (HbA1c). RESEARCH DESIGN AND METHODS: The study included 7206 children and adolescents (age 12.8 ± 2.7 yr, more than 1 yr of diabetes duration) admitted in summer camps between 1998 and 2007 (707-896/yr). Based on injection times (breakfast, lunch, afternoon, dinner, bedtime) and insulin types (short, long and premixed; human or analog), 786 different therapeutic combinations were classified in six main types of regimens. The distribution of the different regimens and their correlation with HbA1c were evaluated as a function of year and age. RESULTS: Over 10 yr, basal bolus increased from 13 to 52% and the pump from <1 to 13%, regimens with two to three injections per day decreased from 50 to 25%, those with only premixed insulins from 33 to 7%, and diverse regimens from 9 to 1%. HbA1c was significantly higher with premixed insulin only, but there were no differences between the other regimens throughout the follow-up. Mean yearly HbA1c (8.21-8.45%) did not show any significant decrease, but the percentage of patients with HbA1c > 9 and 10% decreased significantly, in those treated with two to three injections and the pump, not with basal bolus or premixed only regimens. CONCLUSION: A major trend in intensifying insulin treatment in children and adolescents with type 1 diabetes was accompanied by modest improvements in HbA1c. No insulin regimen has shown any better results, except over premixed insulins.

Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.

BACKGROUND: NKX2.1 mutations have been identified in patients displaying complete or partial brain-lung-thyroid syndrome, which can include benign hereditary chorea (BHC), hypothyroidism and/or lung disease. AIMS AND METHODS: We evaluated the recently developed Multiplex Ligation-dependent Probe Amplification (MLPA) method to assess the relative copy number of genes. The goal was to determine if MLPA could improve, in addition to direct sequencing, the detection rate of NKX2.1 mutations in a phenotype-selected cohort of 24 patients affected by neurological, thyroid and/or pulmonary disorders. RESULTS: Direct sequencing revealed two heterozygous mutations. Using MLPA, we identified two further heterozygous NKX2.1 gene deletions. MLPA increased the detection rate by 50%. All patients with gene deletions identified were affected by BHC and congenital hypothyroidism. CONCLUSION: MLPA should be considered as a complementary tool in patients with partial or total brain-lung-thyroid syndrome when direct sequencing failed to identify NKX2.1 mutations. All patients with an NKX2.1 mutation had BHC and congenital hypothyroidism, emphasizing the high prevalence of these signs associated with defective NKX2.1 alleles.

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

CONTEXT: Monocarboxylate transporter 8 (MCT8 or SLC16A2) mutations cause X-linked Allan-Herndon-Dudley syndrome. Heterozygous females are usually asymptomatic, but pregnancy may modify thyroid function and MCT8 is expressed in the placenta, suggesting that maternal and fetal abnormalities might develop even in the absence of MCT8 fetal mutation. Genetic counseling is so far based on X-linked transmission, and prenatal diagnosis is rarely performed. OBJECTIVE: To describe thyroid function and the prenatal diagnosis in pregnant mothers harboring heterozygous MCT8 mutations and management of the persistent maternal hypothyroxinemia. Patients Two women heterozygous for MCT8 mutations (c.1690G>A and c.1393-1G>C) were monitored throughout pregnancy. METHODS: Prenatal diagnosis included sex determination, direct MCT8 sequencing, and familial linkage analysis. Ultrasonography and hormonal assays for maternal thyroid function evaluation were performed serially during pregnancy. Neonatal thyroid hormonal status was assessed. RESULTS: None of the three fetuses (two males and one female) carried MCT8 mutations. One of the two heterozygous mothers revealed gestational hypothyroxinemia, prompting early levothyroxine (l-T4) therapy until delivery. The second heterozygous mother showed normal thyroid function but was preventively traited by l-T4 and all of the three neonates had normal thyroid hormone levels and thyroid gland at birth, suggesting advantages of prenatal care and/or compensatory mechanisms. CONCLUSION: Heterozygous MCT8 women should be monitored for requirement of l-T4 therapy to prevent fetal and neonatal hypothyroidism and to avoid risk of potential cognitive delay due to gestational hypothyroxinemia. Moreover, when the disease-causing mutation is known and/or the first child is affected, prenatal diagnosis for male fetuses should be assessed early for MCT8 mutations by direct sequencing.