RESUMO
OBJECTIVES: To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability. STUDY DESIGN: This was a retrospective cohort study of all live births in Western Australia between January 1, 1983 and December 31, 2010. Children with an intellectual disability (n = 10 593) were identified from the Western Australian Intellectual Disability Exploring Answers Database. Vital status was determined from linkage to the Western Australian Mortality database. Kaplan-Meier product limit estimates and 95% CIs were computed by level of intellectual disability. Hazard ratios (HRs) and 95% CIs were calculated from Cox proportional hazard regression models adjusting for potential confounders. RESULTS: After adjusting for potential confounders, compared with those without intellectual disability, children with intellectual disability had a 6-fold increased risk of mortality at 1-5 years of age (adjusted HR [aHR] = 6.0, 95%CI: 4.8, 7.6), a 12-fold increased risk at 6-10 years of age (aHR = 12.6, 95% CI: 9.0, 17.7) and a 5-fold increased risk at 11-25 years of age (aHR = 4.9, 95% CI: 3.9, 6.1). Children with severe intellectual disability were at even greater risk. No difference in survival was observed for Aboriginal children with intellectual disability compared with non-Aboriginal children with intellectual disability. CONCLUSIONS: Although children with intellectual disability experience higher mortality at all ages compared with those without intellectual disability, the greatest burden is for those with severe intellectual disability. However, even children with mild to moderate intellectual disability have increased risk of death compared with unaffected children.
Assuntos
Deficiência Intelectual/mortalidade , Adolescente , Adulto , Austrália/epidemiologia , Transtorno Autístico/mortalidade , Causas de Morte , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Lactente , Masculino , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Adulto JovemRESUMO
The 16q21 --> qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7-year follow-up of a female patient with trisomy 16q21 --> qter due to a maternal balanced translocation t(4;16)(q35.2;q21). The patient shows severe mental retardation, congenital heart malformations, nephropathy, and other congenital anomalies. The derivative chromosome was characterized by GTG banding, fluorescent in situ hybridization (FISH) with different BAC probes and the array technique, in order to map the breakpoints. The patient has a 16q21 --> qter duplication, with a 4q35 --> qter monosomy, which we assume does not contribute to the abnormal phenotype. This is the first reported case of postnatal survival to the age of 7 years, an unusually long time in this chromosomal syndrome.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 16/genética , Cromossomos Humanos Par 4/genética , Cardiopatias Congênitas/genética , Deficiência Intelectual/genética , Trissomia/genética , Anormalidades Múltiplas/mortalidade , Adulto , Feminino , Seguimentos , Cardiopatias Congênitas/mortalidade , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Deficiência Intelectual/mortalidade , Cariotipagem , Masculino , Monossomia , Taxa de Sobrevida , Translocação GenéticaRESUMO
This study is part of a collaborative effort between the Division of Vital Statistics, Ministry of Health, Province of British Columbia and the Department of Medical Genetics, University of British Columbia. Permission to use the provincial vital and health records was conditional on the strict observance of the oath of secrecy regarding the nonstatistical information contained in the records. To develop life expectancy data for Down syndrome, we studied 1341 patients with Down syndrome identified by the British Columbia Health Surveillance Registry from more than one million consecutive live births from 1952-1981 inclusive. Our results indicate that life expectancy is much better than generally believed. For patients with Down syndrome with congenital heart anomalies, survival to age 1 year is 76.3%; to age 5, 61.8%; to age 10, 57.1%; to age 20, 53.1%; and to age 30, 49.9%. For patients with Down syndrome without congenital heart anomalies, survival to the same ages is 90.7%; 87.2%, 84.9%, 81.9%, and 79.2%, respectively. Survival for these patients without congenital heart defects is still significantly lower than that for a comparison group of mentally retarded persons without congenital heart defects.