Banca de DEFESA: AMANDA ALVES FEITOSA BATISTA

Uma banca de DEFESA de MESTRADO foi cadastrada pelo programa.
STUDENT : AMANDA ALVES FEITOSA BATISTA
DATE: 31/08/2023
TIME: 16:00
LOCAL: online
TITLE:

 

KEY WORDS:

Orofacial Cleft, genetics, cheiloplasty, palatoplasty.

PAGES: 50
BIG AREA: Ciências Biológicas
AREA: Genética
SUBÁREA: Genética Humana e Médica
SUMMARY:

Background: Oral clefts are complex and frequent congenital anomalies. The frequency of dysmorphic signs associated varies from 3% to 63%. The presence of dysmorphic features may change the status from non-syndromic OC (NSOC) to syndromic OC. The diagnosis established through genetic assessment allows treatment planning accordingly to the patient needs and genetic counseling. Treatment is longitudinal and multidisciplinary throughout the health system levels. Timely primary surgery (cheiloplasty and palatoplasty) is essential for successful rehabilitation. A network of 30 craniofacial hospitals accredited by the the Ministry of Health (CFAH) provides specialized treatment in Brazil. However, throughout the country, non-CFAH also operate to the supply-demand disequilibrium. Aim: To investigate the access of patients with NSOC to genetic assessment and surgery in CFAH and non-CFAH. Methods: Quantitative, retrospective, observational, multicenter study with patients with FONS, followed-up from 2008 until 2019 in two CFAH and two non-CFAH members of Brazil's Craniofacial Project. Data was collected during outpatient visits using the CranFlow platform that feeds the Brazilian Database on Craniofacial Anomalies (BDCA). Genetic assessment and cheiloplasty performed after 12 months-old and palatoplasty after 18 months-old were classified as delayed. Odds ratio (OR), Chi-square and Fisher's exact tests were used for statistics with a p-value of 0,05 for significance.  Results: Information on 840 patients with NOC feeded the BDCA after genetic assessment. The CFAH and non-CFAH patient rate was 2:1, with the majority attending hospitals in the Northeast of Brazil. Age ranged from 1 day to 61 years-old (4±8) with a predominance of children up to 12 months old. Most lived outside the city where the hospital is located, had low-income families and parents with low education. Cleft lip and palate (CLP) occurred in 54.1%, cleft lip (CL) in 25.4%, and cleft palate (CP) in 20.5% of cases. CLP predominated in males and CP in females (p<0.00); unilateral over bilateral clefts (p<0.00), and left-sided over right-sided clefts (p<0.00). The first genetic assessment was performed before completing 12 months-age in 53.1% of the sample. When comparing patients who had timely genetic assessment with late assessment, there was an increased odds of patients in the delayed group experiencing the following barriers: attending a Non-CFAH (OR=1.8; p<0.000), living outside the hospital's location (OR=1.40; p=0.032) and having illiterate mother (OR=11.72; p<0.000) and father (OR= 3.67; p<0.000). Due to the lack of information on the status of surgical treatment in the BDCA, 331 (39.4%) patients were excluded from this analysis. Among the remaining 509, 261 (51.3%) have had surgical delay, 170 had been timely repaired and 78 were into the time-window for surgery. Summing up there were 431 patients timely-repaired, late repaired and late non-repaired for whom 666 surgeries were needed. However, 418 surgeries were overdue, 219 of which were palatoplasties. When comparing patients who had timely surgery with late surgery, there was an increased odds of patients in the delayed group experiencing the following barriers: attending a Non-CFAH (OR=2.7; p<0.000) from the Northeast (OR=3.93; p<0.000), being in a low-income family (OR=2.32; p=0.005), and having parents with low education (mother: OR=15.11; p<0.000; father: OR=3.53; p=0.001). There was a statistically significant increased odds of patients who needed palatoplasty compared to those who needed cheiloplasty (OR=1.8; p<0.000). Conclusion: Clinical-genetics characteristics of the sample corroborate the literature on the epidemiology of NSOC around the world. Overall, half of the patients included in this study had a delay in genetic assessment and/or surgical rehabilitation. Differences were found in the access of patients with NSOC to genetic assessment and surgery, with a greater disadvantage for those followed at NCFH and needing palatoplasty. Patients with NSOC experienced many barriers to access genetic assessment and surgery through the Brazilian Unified Health System. These results highlight and strengthen the need to establish a transversal health policy, having the CFAH as a reference network able to address the unmet health needs of this population.

BANKING MEMBERS:
Externo(a) à Instituição - DÉBORA GUSMÃO MELO - UFSCAR
Externo(a) ao Programa - 3223216 - DEBORA DE PAULA MICHELATTO
Presidente - 3221982 - ISABELLA LOPES MONLLEO
Interno(a) - 2370894 - MICHELLE JACINTHA CAVALCANTE OLIVEIRA
Externo(a) à Instituição - RAFAELA SCARIOT - UFPR