title: Local strategies to address health needs of individuals with orofacial clefts in alagoas, Brazil.
abstract: Objective : To describe demographic and clinical-genetic characteristics of patients from a poor area of Brazil and to share experience on how the local genetic unit has addressed their major health needs. Design : Descriptive cohort. Setting : A clinical-genetic unit, a cytogenetics unit, and a regional cleft team located in the northeast and southeast of Brazil. Participants : A total of 133 individuals with orofacial clefts who attended the surgical call of a nongovernmental organization. From this group, 125, 77, and 13 patients completed phases 1, 2, and 3, respectively. Methods : Phase 1 comprised a description of demographic characteristics recorded through interviews. Phase 2 included a clinical-genetic evaluation using a pretested form, as well as cytogenetic analyses of selected patients. Phase 3 comprised collaborative action to address major health needs of patients without primary surgery. The Fisher test was used for statistics with p value < .05. Results : A majority of patients were rural residents with isolated cleft lip with cleft palate. Ages ranged between 0 and 30 years. Fifty percent had never undergone surgery; whereas, 100% had never attended a genetic evaluation. Isolated cleft was diagnosed in 77.9%, syndromes in 14.3%, and multiple congenital abnormalities in 7.8%. Positive familial history of clefts occurred in 28%; whereas, parental consanguinity was present in 7.8% cases. A total of 23 individuals without cleft surgery were registered for multidisciplinary treatment. Conclusions : Findings revealed high levels of unmet medical needs and provided an evidence base for health care planning. Collaborative action was crucial and might be applied to other regions in Brazil.
authors.forename: Marshall Ítalo Barros
authors.initials: MÍ
authors.lastname: Fontes
authors.forename: Lanusia Nunes
authors.initials: LN
authors.lastname: Almeida
authors.forename: Gilberto
authors.initials: G
authors.lastname: de Oliveira Reis Junior
authors.forename: José Ivam Vieira
authors.initials: JI
authors.lastname: Filho
authors.forename: Kathleen Moura
authors.initials: KM
authors.lastname: Dos Santos
authors.forename: Filipe Silveira
authors.initials: FS
authors.lastname: Dos Anjos
authors.forename: Ana Karolina Maia
authors.initials: AK
authors.lastname: de Andrade
authors.forename: Carlos Guilherme Gaelzer
authors.initials: CG
authors.lastname: Porciuncula
authors.forename: Michelline Costa
authors.initials: MC
authors.lastname: de Oliveira
authors.forename: Rui Manoel
authors.initials: RM
authors.lastname: Pereira
authors.forename: Tarsis Antonio Paiva
authors.initials: TA
authors.lastname: Vieira
authors.forename: Nilma Lúcia
authors.initials: NL
authors.lastname: Viguetti-Campos
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
authors.forename: Isabella Lopes
authors.initials: IL
authors.lastname: Monlleó
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001938:Brazil; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003241:Consanguinity; D006801:Humans