RESUMO
PURPOSE: Pregnancies affected by maternal or fetal achondroplasia present unique challenges. The optimal route of delivery in fetuses with achondroplasia has not been established. Our objective was to determine whether the route of delivery affects postnatal achondroplasia-related surgical burden. METHODS: We conducted a secondary analysis of Achondroplasia Natural History Study (CLARITY), which is a multicenter natural history cohort study of patients with achondroplasia. Achondroplasia-related surgical morbidity, which we defined as the need for one or more postnatal achondroplasia-related surgeries, was assessed in relation to the route of delivery and whether the mother also had achondroplasia. Rate of each individual surgery type (otolaryngology, brain, foramen magnum, spine, and extremity) was also assessed in relation to the route of delivery. RESULTS: Eight hundred fifty-seven patients with achondroplasia with known route of delivery and known maternal stature were included. Three hundred sixty (42%) patients were delivered vaginally, and 497 (58%) patients were delivered by a cesarean delivery. There was no difference in the odds of requiring any postnatal achondroplasia-related surgery in those with achondroplasia who were delivered vaginally compared with those delivered by cesarean birth (odds ratio 0.95, 95% CI = 0.68-1.34, P = .80). No difference was present in the odds of requiring any postnatal achondroplasia-related surgery when route of delivery was compared for fetuses born to 761 average stature mothers (odds ratio 1.05, 95% CI = 0.74-1.51, P = .78). There was also no difference in the odds of requiring each of the individual achondroplasia-related surgeries by route of delivery, including cervicomedullary decompression. CONCLUSION: Our study suggests that it is reasonable for average stature patients carrying a fetus with achondroplasia to undergo a trial of labor in the absence of routine obstetric contraindications.
Assuntos
Acondroplasia , Cesárea , Gravidez , Feminino , Humanos , Estudos de Coortes , Acondroplasia/cirurgia , Acondroplasia/complicações , Feto , Morbidade , Estudos RetrospectivosRESUMO
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism, type 1 having a more severe phenotype than Roifman syndrome. Some of the overlapping features of the two conditions include developmental delay, microcephaly, and immune deficiency. The features also overlap with Lowry Wood syndrome, another rare but well-defined skeletal dysplasia for which the genetic etiology has not been identified. Characteristic features include multiple epiphyseal dysplasia and microcephaly. Here, we describe three patients with Lowry Wood syndrome with biallelic RNU4ATAC pathogenic variants. This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome.
Assuntos
Cardiomiopatias/genética , Nanismo/genética , Transtornos do Crescimento/genética , Síndromes de Imunodeficiência/genética , Deficiência Intelectual/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Microcefalia/genética , Osteocondrodisplasias/genética , RNA Nuclear Pequeno/genética , Doenças Retinianas/genética , Adolescente , Cardiomiopatias/fisiopatologia , Pré-Escolar , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Nanismo/fisiopatologia , Feminino , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/fisiopatologia , Transtornos do Crescimento/fisiopatologia , Humanos , Síndromes de Imunodeficiência/fisiopatologia , Deficiência Intelectual/fisiopatologia , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/fisiopatologia , Microcefalia/fisiopatologia , Mutação , Osteocondrodisplasias/fisiopatologia , Fenótipo , Doenças da Imunodeficiência Primária , Doenças Retinianas/fisiopatologiaRESUMO
Despite the emerging evidence base on response to intervention, there is limited research regarding how to effectively use progress-monitoring data to adjust instruction for students in Tier 2 intervention. In this study, we analyzed extant data from a series of randomized experimental studies of a kindergarten supplemental reading intervention to determine whether linking performance on formative assessments to curriculum progression improved kindergarten reading outcomes over standard implementation. We were interested in whether specific progression adjustments would enhance the effects of supplemental reading intervention. Growth-mixture modeling using data from kindergarteners (n = 136) whose intervention progression (e.g. repeat lessons, skip lessons) was adjusted every 4 weeks based on mastery data identified four latent classes characterized by unique profiles of curriculum progression adjustments. Multilevel analyses comparing the performance of students in the four classes with that of propensity matched groups whose intervention was not adjusted (n = 101) indicated positive effects of curriculum progression for (a) students whose formative assessment performance exceeded 90% and received early and sustained lesson acceleration and (b) students who initially performed below 70% on assessments and who repeated early lessons and progressed to conventional implementation. Effects of curriculum adjustments for the two smallest groups were less clear.
