RESUMO
We performed a systematic review of the literature to assess the association between sleep apnea and bone metabolism diseases including osteoporosis in adult population. Results from clinical trials suggest that the association between sleep apnea and low bone mass in adults is possible. INTRODUCTION: This study aimed to synthesize existing evidence on the potential association between sleep apnea and low bone mass in adults. METHODS: Electronic searches of five databases were performed. The inclusion criteria consisted of studies in humans that assessed potential associations between sleep apnea and bone metabolic diseases in an adult population. For diagnosis of sleep apnea overnight polysomnography, home polygraphy, or validated records from healthcare databases were considered. Reduced bone density, osteoporosis, serum/urinary levels for markers of bone formation and resorption, or risk of fractures caused without history of trauma were considered indicators of low bone mass. A random-effects model meta-analysis was applied when possible. RESULTS: Of the 963 relevant references, 12 studies met our inclusion criteria and were assessed to be of medium to low bias. Nine out of 12 studies reported an association between sleep apnea and low bone mass (increased bone resorption markers, reduced bone density, and higher risk of osteoporosis). Two studies did not report a significant association, whereas one study reported an increase of bone density in sleep apnea patients compared to non-sleep apnea patients. Meta-analysis of 2 studies (n = 112,258 patients) showed that sleep apnea was a significant risk factor for osteoporosis (odds ratio (OR), 1.92; 95%CI, 1.24 to 2.97; I2 = 66%); females only had an OR of 2.56 (95% CI, 1.96 to 3.34; I2 = 0%) while the OR in males was 2.03 (95% CI, 1.24 to 3.35; I2 = 38%). CONCLUSIONS: An association between sleep apnea and low bone mass in adults is plausible, but supporting evidence has a risk of bias and is inconsistent.
Assuntos
Osteoporose/etiologia , Síndromes da Apneia do Sono/complicações , Densidade Óssea/fisiologia , Humanos , Osteoporose/epidemiologia , Osteoporose/fisiopatologia , Fraturas por Osteoporose/epidemiologia , Fraturas por Osteoporose/etiologia , Fraturas por Osteoporose/fisiopatologia , Síndromes da Apneia do Sono/epidemiologia , Síndromes da Apneia do Sono/fisiopatologiaRESUMO
BACKGROUND: Extreme preterm birth confers risk of long-term impairments in lung function and exercise capacity. There are limited data on the factors contributing to exercise limitation following extreme preterm birth. This study examined respiratory mechanics and ventilatory response during exercise in a large cohort of children born extremely preterm (EP). METHODS: This cohort study included children 8-12â years of age who were born EP (≤28â weeks gestation) between 1997 and 2004 and treated in a large regionalised neonatal intensive care unit in western Canada. EP children were divided into no/mild bronchopulmonary dysplasia (BPD) (ie, supplementary oxygen or ventilation ceased before 36â weeks gestational age; n=53) and moderate/severe BPD (ie, continued supplementary oxygen or ventilation at 36â weeks gestational age; n=50). Age-matched control children (n=65) were born at full term. All children attempted lung function and cardiopulmonary exercise testing measurements. RESULTS: Compared with control children, EP children had lower airway flows and diffusion capacity but preserved total lung capacity. Children with moderate/severe BPD had evidence of gas trapping relative to other groups. The mean difference in exercise capacity (as measured by oxygen uptake (VO2)% predicted) in children with moderate/severe BPD was -18±5% and -14±5.0% below children with no/mild BPD and control children, respectively. Children with moderate/severe BPD demonstrated a potentiated ventilatory response and greater prevalence of expiratory flow limitation during exercise compared with other groups. Resting lung function did not correlate with exercise capacity. CONCLUSIONS: Expiratory flow limitation and an exaggerated ventilatory response contribute to respiratory limitation to exercise in children born EP with moderate/severe BPD.
Assuntos
Displasia Broncopulmonar/fisiopatologia , Exercício Físico/fisiologia , Lactente Extremamente Prematuro/fisiologia , Mecânica Respiratória/fisiologia , Canadá , Criança , Teste de Esforço , Feminino , Humanos , Masculino , Testes de Função RespiratóriaRESUMO
Ring chromosome 22 has been described in over 50 cases. A characteristic phenotype has not been fully delineated; however, long face, thick eyebrows, 2-3 toe syndactyly, mental retardation, adequate somatic growth and the absence of major malformations are noted in many cases. An 11-year-old boy with ring chromosome 22 and 46,XY,r(22)(p11.31-q13.31 approximately q13.33) karyotype presented with global developmental delay, autistic disorder, and dolichocephaly, apparently low-set and large ears, midface hypoplasia, and 2-3 toe syndactyly. This is the second report of a ring chromosome 22 with autistic disorder. There appears to be an association between abnormalities of chromosome 22, including r(22), and autistic disorder; however, this occurrence may be a result of the association of autistic disorder with mental retardation rather than specifically due to r(22). The physical findings in this case also suggest that ring chromosome 22 causes a subtle but distinct phenotype which has previously been proposed.
Assuntos
Anormalidades Múltiplas/genética , Transtorno Autístico/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 22/genética , Cromossomos em Anel , Criança , Transtornos Cromossômicos , Humanos , Hibridização in Situ Fluorescente , MasculinoRESUMO
OBJECTIVE: To determine whether siblings with pervasive developmental disorders (PDD) tend to have the same type and number of PDD symptoms or a similar level of functioning. METHOD: The familial correlations for PDD subtype, symptom totals, adaptive behaviors, and nonverbal IQ were calculated for 94 children with PDD from 46 families. RESULTS: On variables measuring PDD symptoms, only impairments in nonverbal communication and verbal/nonverbal status tended to run true within families. There was no familial aggregation of PDD subtype. In contrast, measures of nonverbal IQ and adaptive behaviors in socialization and communication showed a moderate degree of familial resemblance. The degree of familial resemblance did not change if the analysis was restricted only to those families in which both affected children met criteria for autism. CONCLUSION: Insofar as the familial resemblance seen in PDD is due to genetic factors, these data provide some evidence that higher- and lower-functioning PDD children may arise from separate genetic mechanisms. Current gene-mapping studies of PDD may need to take this evidence of genetic heterogeneity into account.
Assuntos
Sintomas Comportamentais , Transtornos Globais do Desenvolvimento Infantil , Saúde da Família , Núcleo Familiar , Atividades Cotidianas , Adolescente , Adulto , Análise de Variância , Sintomas Comportamentais/classificação , Sintomas Comportamentais/etiologia , Criança , Transtornos Globais do Desenvolvimento Infantil/classificação , Transtornos Globais do Desenvolvimento Infantil/etiologia , Pré-Escolar , Suscetibilidade a Doenças/etiologia , Feminino , Humanos , Masculino , Análise por Pareamento , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: To evaluate the ability of the DSM-IV criteria for the pervasive developmental disorders (PDD) to reliably and accurately differentiate PDD subtypes. METHOD: The sample consisted of 143 children with various types of developmental disabilities. A diagnosis of PDD and PDD subtype was made by one clinician using information obtained from the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule. The raw data from the Autism Diagnostic Interview-Revised, clinical notes (excluding diagnostic opinion), Autism Diagnostic Observation Schedule, IQ, and other available data were independently assessed by three experienced raters, each of whom then made a separate, blind diagnosis. If there was any disagreement, a consensus best-estimate (CBE) diagnosis was made after discussion. To assess reliability, the agreement between the three raters was calculated using k. Accuracy was assessed by calculating the agreement between the clinician's diagnosis and the CBE and by calculating the error rates associated with the three raters using latent class analysis. RESULTS: The current DSM-IV criteria show good to excellent reliability for the diagnosis of PDD, Asperger's disorder (AsD), and autism, but they show poor reliability for the diagnosis of atypical autism. The clinician (compared to the CBE) had little difficulty differentiating PDD from non-PDD children and autism from AsD but had more difficulty identifying children with atypical autism. The latent class analysis also showed that the average error rates of the three raters for a differentiation of atypical autism from autism were unacceptably high. CONCLUSIONS: Although the psychometric properties of the current DSM-IV criteria for autism and AsD appear quite acceptable, there is likely to be a high rate of misclassification of children given a diagnosis of atypical autism.
Assuntos
Transtorno Autístico/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Determinação da Personalidade/estatística & dados numéricos , Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Adolescente , Transtorno Autístico/classificação , Criança , Transtornos Globais do Desenvolvimento Infantil/classificação , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Psicometria , Reprodutibilidade dos TestesRESUMO
Genetic epidemiology is the study of inherited factors involved in the etiology of a disease or disorder and uses the methods of both medical genetics and clinical epidemiology. In general, genetic epidemiology tries to answer the following four questions: Is the disorder inherited; What phenotype is inherited; How is it inherited or what is the mode of transmission; and What is the nature of the genetic mutation, if any, that gives rise to the disorder? The hope is that by identifying the gene or genes involved in pathophysiology, a much better understanding of the steps from gene product to phenotype will be possible, leading to improvements in diagnosis, an opportunity for thoughtful family planning, and perhaps, most important, to the development of treatments based on an understanding of the biochemistry of the disorder. We review the current knowledge of the genetic epidemiology of autism and the other pervasive developmental disorders (PDDs) and highlight promising new directions. There seems to be widespread agreement that the PDDs are caused, at least in part, by genetic factors. There is also some agreement on the phenotypic boundaries associated with these same genetic factors. However, many points of uncertainty remain, and several methodologic issues need to be resolved before further progress in mapping susceptibility genes is possible. We do not specifically review molecular studies, medical conditions associated with autism, or the broader autism phenotype, as these topics are covered in other papers in this special issue.
Assuntos
Transtorno Autístico/genética , Transtorno Autístico/classificação , Transtorno Autístico/epidemiologia , Transtornos Globais do Desenvolvimento Infantil/genética , Feminino , Variação Genética , Humanos , Gravidez , Complicações na GravidezRESUMO
OBJECTIVE: The objective of this study was to explore the prevalence, range of reported symptoms, and clinical risk factors of obstructive sleep apnea in preschool children with cleft lip and/or palate. DESIGN: Questionnaires were distributed to parents/guardians of all children from birth to 5 years of age who were followed by the cleft clinic. RESULTS: Questionnaire data and cleft classification were available for 248 children, with a mean age of 33.4 months. Obstructive sleep apnea was identified in 31.4% of the children. Only 29.5% of children with obstructive sleep apnea had undergone an investigation of these symptoms. The three most common symptoms reported in children with a questionnaire diagnosis of obstructive sleep apnea were (1) "heavy or loud breathing," (2) "easily distracted," and (3) "on the go" or "driven by a motor." The only clinical risk factor associated with a questionnaire diagnosis of obstructive sleep apnea was the presence of a syndrome (chi(2) = 3.5, p = .05). There were no significant differences in risk of obstructive sleep apnea by age, cleft classification, and surgical status. CONCLUSION: Preschool children with cleft lip and/or palate have a risk of obstructive sleep apnea that is as much as five times that of children without cleft. Obstructive sleep apnea appears to be underrecognized in this group of children. Further research is needed to investigate important risk factors for obstructive sleep apnea in children with cleft lip and/or palate.
Assuntos
Fissura Palatina/epidemiologia , Programas de Rastreamento , Apneia Obstrutiva do Sono/epidemiologia , Atenção/fisiologia , Comportamento Infantil , Pré-Escolar , Fenda Labial/classificação , Fenda Labial/epidemiologia , Fissura Palatina/classificação , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Atividade Motora/fisiologia , New South Wales/epidemiologia , Polissonografia , Prevalência , Sons Respiratórios , Fatores de Risco , Inquéritos e Questionários , SíndromeRESUMO
BACKGROUND: Cleft palate is associated with an increased risk of sleep disordered breathing (SDB) but the magnitude of this risk and specific risk factors are unclear. A better understanding of these components of risk will aid the early identification of SDB in this group of children. OBJECTIVE: To describe the clinical characteristics and results of sleep studies undertaken in a cohort of children with cleft palate. Clinical features will be examined to determine potential associations with SDB in this group. METHOD: A retrospective chart review was undertaken to ascertain sleep study results and clinical data for all children with cleft palate. Clinical features of interest included age, gender, syndrome diagnosis, cleft classification, and surgical status. RESULTS: A total of 99 sleep studies were available from 62 children. The sample included a select group of children with cleft palate with features predictive of a high risk of SDB. Baseline sleep study results were consistent with SDB for 87% of children and 28% (15 of 54) of these children demonstrated severe SDB. Uni-variate analysis showed that age, syndrome, and surgical status had significant association with the severity of SDB. On multi-variate analysis only surgical status maintained this association, such that pre-palatoplasty/pharyngoplasty was associated with more severe SDB. Follow-up studies were completed in one-third of the cohort. CONCLUSION: Children with cleft palate appear to have a significant risk of SDB. A prospective study of a population of children with cleft palate is needed to further define the characteristics of this risk and important risk factors.
Assuntos
Fissura Palatina/complicações , Polissonografia , Síndromes da Apneia do Sono/complicações , Adolescente , Criança , Pré-Escolar , Fissura Palatina/classificação , Fissura Palatina/cirurgia , Estudos de Coortes , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Palato/cirurgia , Estudos Retrospectivos , Fatores de RiscoRESUMO
OBJECTIVE: To determine the risk of the lesser variant (or PDD-like traits) in the biological and nonbiological second- and third-degree relatives of PDD probands using a screening questionnaire and to investigate the extent to which the risk of the lesser variant differs according to various characteristics of the proband. METHOD: The sample consists of a series of 34 nuclear families with 2 affected PDD children (multiplex, MPX), 44 families with a single PDD child (simplex, SPX), and 14 families who adopted a PDD child. Data on characteristics of the lesser variant in 1362 biological and 337 nonbiological second- and third-degree relatives were collected from parents by telephone interview and from several maternal and paternal relatives by questionnaire. RESULTS: All components of the lesser variant were more common in biological relatives (BR) than nonbiological relatives (NBR), confirming the familial aggregation of the traits. Proband characteristics associated with an increased risk of the lesser variant in relatives were a higher level of functioning and coming from a MPX family. CONCLUSIONS: These findings on the familial aggregation of the lesser variant suggest that the genes for PDD also confer susceptibility to the lesser variant and that PDD may be a genetically heterogeneous disorder.