RESUMEN
OBJECTIVE: To examine differences between use of World Health Organization (WHO) and Centers for Disease Control and Prevention (CDC) growth reference in children with cystic fibrosis (CF) up to 2 years of age. STUDY DESIGN: Growth from 1-24 months in 2587 children, born 2003-2006 and recorded in the US CF Foundation Registry, was evaluated using WHO and CDC references. RESULTS: In both boys and girls with CF aged 1-24 months, use of WHO charts resulted in â¼8 percentile lower length-for-age and â¼13% higher short stature rate (length-for-age <5th percentile). WHO weight-for-age was â¼9 percentile lower prior to age 6 months, crossed at 6-7 months, and remained â¼14 percentile higher at 8-24 months. WHO weight-for-length (WFL) percentile (WFLp) was similar before 12 months but â¼10 percentile higher at 12-24 months compared with CDC. When using WHO charts, 9% of children had underweight (WFLp <50th) classified differently and this rate varied with age: 4% in the first year, 7% at 12, 13% at 15, and 16% at 18 months, respectively. Weight status assessed by WHO body mass index (BMI) charts was different from WHO WFL charts. At 24 months when switching back to CDC, 26% of children with normal WFLp on WHO charts appeared underweight on CDC charts. A 70th percentile of WHO BMI percentile was equivalent to the 50th percentile CDC BMI percentile. CONCLUSIONS: Growth status in children with CF differed when using WHO and CDC references, particularly during the second year of life. These differences need to be considered for all uses of growth assessment in CF.
Asunto(s)
Centers for Disease Control and Prevention, U.S./estadística & datos numéricos , Fibrosis Quística/fisiopatología , Gráficos de Crecimiento , Sistema de Registros , Organización Mundial de la Salud , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Valores de Referencia , Estudios Retrospectivos , Estados UnidosRESUMEN
OBJECTIVES: To test the hypothesis that pubertal peak height velocity (PHV) in cystic fibrosis (CF) has improved and is influenced by prepubertal growth and genetic potential. STUDY DESIGN: PHV from 1862 children born in 1984-87 and documented in the 1986-2008 US CF Foundation Registry was determined by statistical modeling and classified into normal, delayed (2-SD > average age), attenuated (magnitude <5th percentile), or both delayed and attenuated (D&A). Genetic potential for height was estimated by parental stature. RESULTS: PHV averaged 8.4 cm/year at age 14.0 years in boys and 7.0 cm/year at age 12.1 years in girls, â¼6-month delay and â¼15% reduction compared with healthy children. PHV was normal in 60%, delayed in 9%, attenuated in 21%, and D&A in 5%. Patients with delayed PHV reached similar adult height percentile (boys: 34th, girls: 46th) to those with normal PHV (boys: 33rd, girls: 34th); both were significantly taller than the attenuated (boys: 11th, girls: 19th) and D&A PHV subgroups (boys: 8th, girls: 14th). Pancreatic-sufficient patients had taller prepubertal and adult heights but similar PHV compared with pancreatic-insufficient or meconium ileus patients. Adjusting for genetic potential reduced adult height percentiles more in boys (from 25th to 16th) than girls (from 28th to 24th). Height at age 7 years, PHV age and magnitude, and parental stature significantly predicted adult height. CONCLUSIONS: Pubertal PHV has improved in children with CF born after mid-1980s compared with older cohorts but remains below normal. Suboptimal prepubertal and pubertal growth led to adult height below genetic potential in CF.
Asunto(s)
Estatura , Fibrosis Quística/fisiopatología , Adolescente , Factores de Edad , Estatura/genética , Niño , Fibrosis Quística/genética , Femenino , Humanos , Masculino , Pubertad , Factores de Tiempo , Adulto JovenRESUMEN
OBJECTIVE: To estimate the population impact of child mortality as a result of cystic fibrosis (CF) potentially preventable by newborn screening. STUDY DESIGN: A systematic literature review of mortality in children with classic CF without meconium ileus (MI) in screened and unscreened cohorts was extended by contacting investigators for unpublished data. In addition, survival in US states with and without newborn screening (NBS) programs for CF was compared using data from the Cystic Fibrosis Foundation Patient Registry (CFFPR). RESULTS: Among non-US studies, CF-related mortality risk to approximately 10 years of age was lower by 5 to 10 per 100 in screened cohorts. Unpublished US data from a trial of NBS for CF indicate no CF-related deaths to 10 years of age in either cohort. CFFPR data suggest improved survival among children with CF born in US states with NBS, with a CF-related mortality difference to 10 years of age between the screened and unscreened groups between 1.5 and 2 per 100 children with CF without MI. CONCLUSION: In addition to improving nutritional outcomes, newborn screening for CF may result in improved child survival. The absolute differential in mortality risk, although modest in size, appears comparable to NBS for certain other genetic disorders.
Asunto(s)
Fibrosis Quística/diagnóstico , Fibrosis Quística/mortalidad , Tamizaje Neonatal , Adolescente , Adulto , Niño , Mortalidad del Niño , Preescolar , Humanos , Recién Nacido , Tasa de SupervivenciaRESUMEN
OBJECTIVE: To generate and examine evidence in support of diagnosing cystic fibrosis (CF) early through newborn screening (NBS). STUDY DESIGN: Using a randomized controlled trial with unique unblinding/surveillance, we evaluated patients with CF receiving similar treatment after assignment to an early diagnosis (screened) group or to a control group. Outcomes studied at diagnosis and longitudinally included measures of nutritional status and lung disease. RESULTS: Assessment of patients with CF without meconium ileus who had pancreatic insufficiency revealed marked differences in age and condition at diagnosis--screened patients had significantly better length/height, weight, and head circumference. Follow-up evaluation for 16 years showed that height and weight differences persisted long term. Although screened patients had better chest x-ray scores at diagnosis, our trial suggests that the effects of confounders such as Pseudomonas aeruginosa infections led to deterioration of their scores after 10 years, but there were no significant differences between the 2 CF/pancreatic insufficiency subgroups. CONCLUSIONS: Early diagnosis of CF and aggressive nutritional management can prevent malnutrition and growth failure. Although CF NBS provides a potential opportunity for better pulmonary outcomes, it appears that other factors can predominate over time in pulmonary prognosis. Overall, the Wisconsin trial is positive and provides enough evidence for routine CF NBS.
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Fibrosis Quística/diagnóstico , Tamizaje Neonatal/organización & administración , Factores de Edad , Niño , Trastornos de la Nutrición del Niño/diagnóstico , Trastornos de la Nutrición del Niño/etiología , Preescolar , Fibrosis Quística/complicaciones , Fibrosis Quística/mortalidad , Fibrosis Quística/terapia , Diagnóstico Precoz , Medicina Basada en la Evidencia , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Masculino , Estado Nutricional , Evaluación de Resultado en la Atención de Salud , Pronóstico , Infecciones por Pseudomonas/etiología , Infecciones del Sistema Respiratorio/etiología , Índice de Severidad de la Enfermedad , Wisconsin/epidemiologíaRESUMEN
OBJECTIVE: To determine the impact of age and condition at the time of diagnosis on survival of patients with cystic fibrosis (CF). STUDY DESIGN: By mode of diagnosis, 27,692 patients documented in the 1986-2000 CF Foundation Registry were segregated into meconium ileus (MI), prenatal or neonatal screening (SCREEN), positive family history only (FH), and symptoms other than MI (SYMPTOM). Patients in the MI, SCREEN, and SYMPTOM groups were further categorized by initial presenting symptoms into combined respiratory symptoms and malnutrition (RESP + NUTR), RESP, NUTR, other less common symptoms (OTHER), and OTHER + RESP/NUTR. RESULTS: Fifty-five percent of patients in the SCREEN group and 59% of patients in the MI group were diagnosed within age 1 month, as contrasted with 5% in patients in the SYMPTOM group (P < .001). Compared with patients in the SCREEN group, patients in the MI and SYMPTOM groups had significantly greater risks of shortened survival. Patients in the SYMPTOM group presenting with RESP + NUTR had significantly greater risk of shortened survival than the SCREEN group (P < .05). Survival of patients in the SYMPTOM group diagnosed "early," that is, within 1 month of age, did not differ from patients in the SCREEN group but was significantly better than patients in the SYMPTOM group diagnosed beyond age 1 month to 10 years. CONCLUSIONS: Early diagnosis through screening is associated with better survival compared with delayed diagnosis through non-MI symptoms beyond the age of 1 month.
Asunto(s)
Fibrosis Quística/diagnóstico , Fibrosis Quística/mortalidad , Tamizaje Neonatal , Diagnóstico Prenatal , Sistema de Registros , Adolescente , Adulto , Factores de Edad , Niño , Trastornos de la Nutrición del Niño/etiología , Preescolar , Efecto de Cohortes , Factores de Confusión Epidemiológicos , Fibrosis Quística/complicaciones , Fibrosis Quística/terapia , Diagnóstico Precoz , Humanos , Lactante , Recién Nacido , Tamizaje Neonatal/métodos , Vigilancia de la Población , Diagnóstico Prenatal/métodos , Modelos de Riesgos Proporcionales , Infecciones del Sistema Respiratorio/etiología , Factores de Riesgo , Índice de Severidad de la Enfermedad , Análisis de Supervivencia , Estados Unidos/epidemiologíaRESUMEN
OBJECTIVE: To evaluate whether early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) and early vitamin E status are associated with cognitive function. STUDY DESIGN: We assessed cognitive function for 71 children without meconium ileus (ages 7.3-16.9 years) enrolled in the screened (S) or control (C) group of the Wisconsin CF Neonatal Screening Project. The Test of Cognitive Skills, 2nd edition generated the cognitive skills index (CSI; mean = 100, SD = 16). Vitamin E deficiency at diagnosis was defined as plasma alpha-tocopherol (alpha-T) below 300 microg/dL (<300E). Primary analyses evaluated CSI scores across the 4 levels of group (S or C) by using alpha-T status (<300E or >300E) with analysis of covariance. RESULTS: After adjusting for covariates, CSI in the C<300E group was significantly lower than each of the other groups (C>300E, S<300E, and S>300E; P < .05). The highest proportion of CSI scores >84 occurred in the C<300E group (41%). Patients in this group also had the lowest mean head circumference z-scores at diagnosis. CONCLUSIONS: Our results show that prolonged alpha-T deficiency in infancy is associated with lower subsequent cognitive performance. Thus, diagnosis via NBS may benefit the cognitive development of children with CF, particularly in those prone to vitamin E deficiency during infancy.