RESUMEN
Despite the demands it places on individuals, families and the community, intellectual disability (ID) is a neglected area of public health. Accurate estimates of prevalence are sparse and range from 0.5 to 3.0%. The cause of the condition is unknown in at least 50% of cases. This paper describes the Intellectual Disability Exploring Answers (IDEA) database set up in Western Australia to provide an infrastructure for research and to facilitate the planning of service provision for people with ID. Since 1953 a database for ID has been maintained in Western Australia, a state with a population of 1.95 million in an area of 2.52 million km2. The current IDEA database aims to obtain ongoing population-based ascertainment of ID from providers of clinical and educational services, with the potential for linkage to a network of other state databases. The average prevalence of ID for children born in Western Australia over the years 1983-1996 was 15.2 per 1000 live births, with 50% ascertained only through the education system. During this time period 60% of cases were male. Of children with an ID born in Western Australia in 1980-1999 and surviving to 1 year, 30.1% had a birth defect, and the prevalence ratio of birth defects in this group compared to the population with no birth defects was 6.5 (CI 6.3-6.8).
Asunto(s)
Bases de Datos como Asunto , Discapacidad Intelectual/epidemiología , Adolescente , Australia/epidemiología , Niño , Preescolar , Anomalías Congénitas/epidemiología , Femenino , Humanos , Discapacidad Intelectual/etiología , Masculino , PrevalenciaRESUMEN
BACKGROUND: It is estimated that approximately 50% of women in Australia with intellectual disability will live to 70 years of age and as a result many will fall within the age group at highest risk for breast cancer (50-69 years). METHODS: Subjects were identified through the Western Australia Disability Services database. To determine the number of women diagnosed with breast cancer during the period 1982-2000, individual records (n = 2,370) were linked to the Western Australia Cancer Registry and the Mammography Screening Registry. RESULTS: The incidence of breast cancer among women with intellectual disability was 64.0 per 100,000 person-years, by comparison with 146.7 per 100,000 person-years in the general population. The uptake of breast cancer screening was examined in a subgroup of 380 women, 34.7% of whom had used mammographic screening, as opposed to 54.6% screening uptake in the general population. Failure to use screening services was highest in women who were unmarried, and was positively associated with severity of intellectual disability, presence of physical disabilities, and urban residence. CONCLUSIONS: The lower incidence of breast cancer in women with intellectual disability may in part be attributable to decreased life expectancy, but it also appears to reflect significant under utilization of the readily available screening services.
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Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/epidemiología , Discapacidad Intelectual , Mamografía/estadística & datos numéricos , Tamizaje Masivo/estadística & datos numéricos , Aceptación de la Atención de Salud/estadística & datos numéricos , Actividades Cotidianas , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/complicaciones , Femenino , Encuestas de Atención de la Salud , Conocimientos, Actitudes y Práctica en Salud , Humanos , Incidencia , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/psicología , Esperanza de Vida , Persona de Mediana Edad , Aceptación de la Atención de Salud/psicología , Vigilancia de la Población , Sistema de Registros , Características de la Residencia/estadística & datos numéricos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Persona Soltera/psicología , Persona Soltera/estadística & datos numéricos , Salud Urbana/estadística & datos numéricos , Australia Occidental/epidemiologíaRESUMEN
In virtually all countries life expectancy is longer in females than in males. A multigeneration, population-based dataset was used to investigate whether a gender-specific difference in life expectancy could be determined in a large cohort (n = 1,332) of people with Down syndrome resident in Western Australia. Contrary to the established pattern of longevity in the general population, and in most people with intellectual disability, males with Down syndrome had a significantly greater life expectancy than females with the same disorder. The reasons for this atypical finding are discussed in terms of the patterns of morbidity experienced by people with Down syndrome, especially at early and late stages of their lifespan.
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Síndrome de Down/mortalidad , Esperanza de Vida/tendencias , Adolescente , Adulto , Distribución por Edad , Niño , Preescolar , Estudios de Cohortes , Síndrome de Down/diagnóstico , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Probabilidad , Sistema de Registros , Índice de Severidad de la Enfermedad , Distribución por Sexo , Análisis de Supervivencia , Australia Occidental/epidemiologíaRESUMEN
Cohort studies have indicated that the survival of individuals with Down's syndrome has dramatically increased over the past 50 years. Early childhood survival in particular has shown major improvement, due largely to advances in cardiac surgery and in general health management. The present study was based on a continuous cohort of 1332 people with Down's syndrome in Western Australia, registered for intellectual disability services between 1953 and 2000. Their life expectancy was 58.6 years, 25% lived to 62.9 years, and the oldest living person is 73 years of age. Life expectancy for males was greater than females by 3.3 years. The substantial increase in survival across the study period means that the life expectancy of people with Down's syndrome is approaching that of the general population, but accompanied by a range of significant mid-life health problems. The findings are of relevance to all developed countries and have considerable implications in terms of the counselling information provided to families at risk of having a child with Down's syndrome.
Asunto(s)
Síndrome de Down/fisiopatología , Asesoramiento Genético , Estudios de Cohortes , Femenino , Humanos , Masculino , Análisis de SupervivenciaRESUMEN
BACKGROUND: To date, relatively few representative data have been available to health planners and advocacy groups on the life expectancy of people with intellectual disability. A study of trends in the survival profiles of people with intellectual disability was undertaken to assist in the planning of appropriate medical and support services. METHODS: Since 1953, the Disability Services Commission of Western Australia has maintained a database of persons diagnosed with intellectual disability. The database was used to calculate survival probabilities on a total of 8724 individuals, 7562 of whom were still alive at the time of sampling in December 2000. RESULTS: Kaplan-Meier survival plots showed a strong negative association between severity of intellectual disability and survival, with median life expectancies of 74.0, 67.6, and 58.6 years for people with mild, moderate, and severe levels of handicap. Significant negative associations also were observed with male gender, Indigenous Australian parentage, and individuals diagnosed with a specific genetic disorder. CONCLUSIONS: The findings indicate a major and expanding increase in the service requirements of this aging, intellectually disabled population during the past two generations.
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Discapacidad Intelectual , Esperanza de Vida , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: To investigate the prevalence of intellectual disability in Western Australia (WA), its causes, prevention, and trends over time. METHODOLOGY: Data from an administrative database of intellectual disability in WA were used to report on the trends in intellectual disability in childhood. RESULTS: The prevalence of intellectual disability was 8.3 per 1000 live births in 1980-90. For half the cases, there was no known cause for the intellectual disability. Down syndrome accounted for 14 to 15% of all cases. Since the introduction of newborn screening, no WA-born child participating in the screening program has been diagnosed with intellectual disability as a result of either phenylketonuria or congenital hypothyroidism. The rate of autism spectrum disorders rose from three to six per 10 000 in the 1980-83 WA birth cohort to 10-13 per 10 000 for the 1989-92 cohort. CONCLUSIONS: Recent linkage of this administrative database to the WA Maternal and Child Health Research Data Base provides a unique opportunity for more detailed investigation of intellectual disability and its risk factors in a large, well-ascertained population of children.
Asunto(s)
Trastorno Autístico/epidemiología , Síndrome de Down/epidemiología , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/genética , Trastorno Autístico/diagnóstico , Niño , Preescolar , Síndrome de Down/diagnóstico , Femenino , Humanos , Inteligencia , Masculino , Prevalencia , Sistema de Registros , Factores de Riesgo , Australia Occidental/epidemiologíaRESUMEN
The improved life expectancy of people with Down's syndrome as a result of the greater availability of surgery and advances in medical care has been widely documented. However, there has been no evaluation of survival in the Australian Down's syndrome population since the 1980s. This study aimed to evaluate the changes in survival from birth in cases of Down's syndrome notified to the Birth Defects Registry in Western Australia. Babies born with Down's syndrome between 1980 and 1996 (inclusive) and registered with the Birth Defects Registry were studied. Survival status was obtained in several ways. Cases were stratified into three cohorts for comparison. Survival curves were constructed using the methods of Kaplan and Meier. For infants born during 1980-96, survival to 1 year is now > 91%, and 85% can expect to survive until the age of 10 years. Although survival in those with heart disease showed improvement over the period studied, overall this was still a strong predictor of mortality. Survival in Aboriginal children with Down's syndrome was significantly poorer than in non-Aboriginal children, mirroring the pattern in the general population. Mortality was greater in females and in those with a low birthweight. There was no statistically significant difference in the survival between those born in metropolitan and in rural areas. There has been a considerable improvement in survival of infants born with Down's syndrome in Western Australia. This improvement is similar to findings in recent international studies. The difference in survival between Aboriginal and non-Aboriginal children is particularly disturbing. These findings are useful for both clinicians and families who need to plan for the long-term care of these children.
Asunto(s)
Síndrome de Down/mortalidad , Adulto , Peso al Nacer , Niño , Preescolar , Estudios de Cohortes , Síndrome de Down/epidemiología , Femenino , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/mortalidad , Humanos , Lactante , Recién Nacido , Masculino , Edad Materna , Análisis Multivariante , Nativos de Hawái y Otras Islas del Pacífico , Embarazo , Características de la Residencia , Factores Sexuales , Análisis de Supervivencia , Australia Occidental/epidemiologíaRESUMEN
Current and comprehensive information about the medical issues affecting children with Down syndrome (DS) is of value in counselling parents who are considering prenatal diagnosis and in planning services for people with DS as they age, especially given the continued improvements in their survival. Parents of school-aged children (mean age 11.37 years, 57.3% male, 42.7% female) with DS were identified by linking registers from the Disability Services Commission and the Birth Defects Registry. Less than half the children had cardiac and bowel conditions. More than half had ear conditions and more than three quarters had eye conditions. Ear, nose, and throat professionals were the specialists seen most often and the rate of tympanostomy tube insertion was nearly 17 times that of the general childhood population. Children with DS were over five times more likely to wear glasses than other children. These findings suggest that chronic, non life-threatening conditions impose a burden on families but do not threaten quality of life.
Asunto(s)
Niños con Discapacidad , Síndrome de Down/complicaciones , Estado de Salud , Calidad de Vida , Niño , Enfermedad Crónica , Salud de la Familia , Femenino , Humanos , Recién Nacido , MasculinoRESUMEN
The spacer regions between the 16S and 23S rRNA genes (spacer regions 1) of Bacillus sporothermodurans were PCR-amplified, cloned and sequenced. Six unique spacer sequences in four size classes were recovered from two strains, rrnA (about 190 bp), rrnB (about 303 bp), rrnC (355 bp) and rrnD (554 bp). rrnD contained two tRNA genes which were deciphered as tRNA(ala) and tRNA(ile) separated from each other by 13 nucleotides. The primary structures of the tRNA molecules clearly resembled those found in Bacillus subtilis; the tRNA(ala) genes were identical and the tRNA(ile) genes were 95% similar. The mixed rrnA and rrnB spacers when PCR-amplified from chromosomal DNA were effective as a hybridization probe for identification of B. sporothermodurans strains. However, high background signals with DNA from some other bacilli were encountered. A more discriminating probe was prepared from the cloned rrnB spacer region. Of eight aerobic, endospore-forming bacteria isolated from silage following heat enrichment, one was identified as B. sporothermodurans using the probe and its identity was confirmed from partial 16S rDNA analysis (phylotyping). This indicated that contamination in milk and dairies by B. sporothermodurans could originate from cattle feeds such as silage. Of the other seven silage strains, only two were identified conclusively by phylotyping and three represented probable new species. The latter three strains were subjected to phylogenetic analysis using almost complete 16S rDNA sequences. Branch lengths, bootstrap percentage values, and 16S rDNA similarity to other Bacillus species suggested that these isolates are likely to constitute new species within the genus Bacillus.
Asunto(s)
Bacillus/clasificación , Bacillus/aislamiento & purificación , Filogenia , ARN Ribosómico 16S/genética , ARN Ribosómico 23S/genética , Ensilaje/microbiología , Animales , Bacillus/genética , Bacillus/crecimiento & desarrollo , Secuencia de Bases , Bovinos , Sondas de ADN , ADN Bacteriano/química , ADN Bacteriano/genética , ADN Ribosómico/química , ADN Ribosómico/genética , Genes de ARNr , Calor , Leche/microbiología , Datos de Secuencia Molecular , Operón , Análisis de Secuencia de ADN , Esporas BacterianasRESUMEN
Cerebral palsy (CP) is a term of convenience applied to a group of motor disorders of central origin defined by clinical description. It is not a diagnosis in that its application infers nothing about pathology, aetiology, or prognosis. It is an umbrella term covering a wide range of cerebral disorders which result in childhood motor impairment. The precise inclusion criteria vary with the objectives for using the term. For meaningful comparison of rates of CP, as performed by and between CP registers, it is important that the rates should be generated using the same criteria. As generally understood there must be motor impairment, and this impairment must stem from a malfunction of the brain (rather than spinal cord or muscles). Furthermore, the brain malfunction must be non-progressive and it must be manifest early in life. For the purposes of comparisons of rates across time even when the condition meets all the above criteria, it must not historically have been excluded from the category of CP. This paper addresses the problem of standardizing the inclusion criteria for selecting people included on CP registers with particular reference to this last criterion.
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Parálisis Cerebral/diagnóstico , Preescolar , Humanos , SíndromeRESUMEN
There is increasing interest in the outcomes of multiple pregnancies as their numbers rise, mainly owing to advances in fertility-enhancing techniques. In addition, the numbers of multiple births surviving the perinatal period is increasing with the increasing survival of very tiny babies. In order to investigate these outcomes or to evaluate procedures that may improve them, it is important to consider a number of methodological issues that affect the comparability of data both between and within populations. How a birth and a multiple birth are defined, data sources, whether multiple pregnancies or individual births are being counted and the identification of multiple gestations by zygosity and chorionicity will all affect the reported outcome rates. In light of this, perinatal mortality and neurodevelopmental disabilities are examined as adverse outcomes of multiple pregnancies.
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Resultado del Embarazo , Embarazo Múltiple , Aborto Espontáneo/etiología , Parálisis Cerebral/etiología , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/mortalidad , Femenino , Humanos , Mortalidad Infantil , Recién Nacido , Embarazo , Índice de Embarazo , Embarazo Múltiple/estadística & datos numéricos , Factores de RiesgoAsunto(s)
Embarazo Múltiple , Trillizos , Femenino , Humanos , Embarazo , Australia Occidental/epidemiologíaRESUMEN
In a controlled prospective randomized study the regimen doxorubicin (A) 40 mg/m2 + melphalan (M) 0.4 mg/kg was compared with A + M + cisplatin (C) 50 mg/m2 given every four weeks in advanced ovarian cancer, FIGO stage III or IV and with serous or anaplastic histology. From 1981 to 1983, 300 patients entered the study and 295 patients were evaluable for response, toxicity and long-term survival. All patients were followed for at least 10 years. The majority of patients had large residual tumours >2 cm. Patients treated with MAC had a higher response rate compared with patients treated with MA (76% vs. 50%, p < 0.01) and treatment with MAC resulted in significantly more pathological complete responders than MA. There was a significant difference in median duration of response (19 months vs. 13 months, p < 0.006) and in median survival time (26 months vs. 19 months, p = 0.05). After 5- and 10 years a significant difference in progression-free and overall survival was found. The independent prognostic factors in this study were residual tumour after primary surgery, treatment with MAC, tumour grade, ascites, and stage. Objective and subjective side effects were significantly worse with MAC, although tolerable. In conclusion, this study shows that incorporating C into MA improves the duration of progression-free survival and overall survival in women with incompletely resected Stage III or Stage IV ovarian epithelial cancer. A 5- and 10-year survival of 25% and 18%, respectively, is impressive.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Cisplatino/administración & dosificación , Doxorrubicina/administración & dosificación , Melfalán/administración & dosificación , Neoplasias Ováricas/tratamiento farmacológico , Adolescente , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Ascitis/complicaciones , Cisplatino/efectos adversos , Doxorrubicina/efectos adversos , Femenino , Humanos , Melfalán/efectos adversos , Persona de Mediana Edad , Neoplasia Residual , Neoplasias Ováricas/mortalidad , Pronóstico , SueciaRESUMEN
We reviewed 71 cases of children and adolescents with nephrolithiasis over a 9 year period (1982-1991). The mean age was 12.3 years. The male: female ratio was 2.5:1. Twelve patients (16.9%) had bilateral stones. Fifteen patients (21%) had documented urinary tract infection. Escherichia coli was the most common organism growing in the urine cultures. Five patients had metabolic abnormalities and four had genitourinary developmental anomalies. Of the 45 calculi recovered for analysis, 17 (37.8%) were predominantly calcium oxalate, 14 (31.1%) were mixed calcium oxalate and uric acid stones, two (4.4%) were uric acid, two (4.4%) were calcium phosphate, two (4.4%) were cystine and eight (17.8%) were struvite stones. Four patients passed their stones spontaneously. Forty-eight underwent open surgery, with complete stone clearance in 45 patients. Two patients needed nephrectomy, seven had their stones removed by endourological procedures, nine patients were referred to other centers for extra corporeal shock wave lithotripsy, while two did not need any intervention. After the initial hospitalization, 57 patients continued follow up for a mean period of 3.3 years. Of them sixteen patients (28.1%) had recurrence of stone disease. We conclude that renal stone disease in children in our area was not uncommon. The majority were calcium oxalate stones. The clinical manifestations were not specific. Open surgery was needed in the majority of patients. Due to significant recurrence rate, long term follow-up was essential. Follow up by a pediatric nephrologists and/or urologist would be advisable.
RESUMEN
We report a case of a 38-year old woman with placenta previa-percreta and urinary bladder invasion. Resection of the bladder wall during cesarean hysterectomy was complicated by a postoperative vesico-vaginal fistula and small-capacity bladder. A reconstructive augmentation cystoplasty utilizing the ileum was successful in improving the bladder capacity. To our knowledge, this is the first report of a placenta previa-percreta with bladder wall invasion which required reconstructive augmentation cystoplasty after cesarean hysterectomy. The obstetrician-gynecologist should be aware of reports of complications related to augmentation procedures, including late malignancy which may develop in the bowel segment used for cystoplasty.
Asunto(s)
Cesárea , Histerectomía , Placenta Accreta/cirugía , Placenta Previa/cirugía , Reservorios Urinarios Continentes , Adulto , Femenino , Humanos , Complicaciones Posoperatorias/cirugía , Embarazo , Fístula Vesicovaginal/etiología , Fístula Vesicovaginal/cirugíaRESUMEN
Aetiological relationships between cerebral palsy, preterm birth, small-for-gestational-age (SGA) birth and selected feto-maternal factors were investigated in a case-control study of all moderate and severe cerebral palsy cases born in Western Australia between 1980 and 1986 (n = 215). Cases were individually matched to three controls of the same gender and plurality born in the same year. Two of the controls were matched to the index cases for gestational age, one of which was also matched for birthweight. Pre-eclampsia and urinary tract infections were not significantly associated with cerebral palsy. The significant association of antepartum haemorrhage with cerebral palsy was accounted for by its associations with preterm birth. Congenital malformations and non-cerebral palsy neurological disorder were significantly associated with cerebral palsy; these associations were only partially accounted for by adjusting for preterm birth and small-for-gestational-age birth. This study shows that some of the risk of cerebral palsy associated with the antenatal antecedents of some common feto-maternal factors is mediated through preterm birth, confirming the importance of interrelationships between antenatal antecedents in the aetiology of some cerebral palsy. Perinatal and post-neonatal causes now account for only around 20% of all cerebral palsy. Future reductions in cerebral palsy incidence may therefore depend on acquiring greater knowledge of inter-relationships between antenatal antecedents.
Asunto(s)
Parálisis Cerebral/etiología , Estudios de Casos y Controles , Parálisis Cerebral/epidemiología , Distribución de Chi-Cuadrado , Anomalías Congénitas , Desarrollo Embrionario y Fetal , Femenino , Edad Gestacional , Humanos , Recién Nacido , Modelos Logísticos , Masculino , Trabajo de Parto Prematuro , Preeclampsia/complicaciones , Embarazo , Complicaciones del Embarazo , Infecciones Urinarias/complicaciones , Hemorragia Uterina/complicaciones , Australia Occidental/epidemiologíaRESUMEN
The relation of familial factors to the aetiology of cerebral palsy was assessed in a case-control study of all moderate and severe cases born in Western Australia between 1980 and 1986. The data did not suggest recurrence of cerebral palsy, congenital malformations or reproductive loss in cerebral palsy families. Preterm and small-for-gestational-age birth recurred within both case and control families. Cases and controls did not differ significantly from their siblings in measures of intra-uterine growth, but (with the exception of controls unmatched for both birthweight and gestational age) were born significantly earlier than their siblings. A family history of preterm or small-for-gestational-age birth was found to affect the risk of cerebral palsy by influencing the risk of preterm birth or growth retardation in the index pregnancy.