Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2026
Diagnostic odyssey and healthcare access challenges in Rett Syndrome: perspectives from Brazilian families.
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Santana Gabriella Almeida Santos de, Sousa Lindinês de Jesus, Silva Maria José Souza, Dias Narciso DiLorenzo Machado, Laguna Gabriela Garcia de Carvalho, Fernandes Larissa Alves, Marques Cintia Rodrigues, Oliveira Patrícia da Silva
Аннотация
OBJECTIVE: To analyze the challenges in the diagnosis and care of Rett Syndrome based on the experiences of caregivers in Brazil.
METHODS: This study employed a convergent mixed-methods approach. Data were collected from 14 primary caregivers of children with genetically confirmed Rett Syndrome. Data collection included thematic analysis of semi-structured interviews and descriptive statistics from sociodemographic questionnaires.
RESULTS: The mean diagnostic delay was 3.6 years (standard deviation - SD=1.4 years; range, 2-6 years), with a median of 3.5 years. The distribution was assessed and deemed suitable for reporting the mean. Most cases (92.8%) were initially attributed to autism spectrum disorder. The main barriers were limited knowledge among professionals (78.6%), delays in genetic testing (92.8%), and difficulties accessing therapies. Caregivers (12 mothers, 2 fathers; mean age, 38.0 years [SD, 4.1]; 57.1% with a college degree) reported a significant physical and emotional burden, with 92.8% providing full-time care without institutional support. The qualitative analysis revealed four themes: the diagnostic journey, the battle for therapy, the impact on family life, and the burden of care.
CONCLUSIONS: Diagnosis and care are hindered by knowledge gaps, systemic inefficiencies, and limited support. The findings highlight the need to improve education on rare diseases, streamline access to genetic testing and therapies, and implement support programs for caregivers.
METHODS: This study employed a convergent mixed-methods approach. Data were collected from 14 primary caregivers of children with genetically confirmed Rett Syndrome. Data collection included thematic analysis of semi-structured interviews and descriptive statistics from sociodemographic questionnaires.
RESULTS: The mean diagnostic delay was 3.6 years (standard deviation - SD=1.4 years; range, 2-6 years), with a median of 3.5 years. The distribution was assessed and deemed suitable for reporting the mean. Most cases (92.8%) were initially attributed to autism spectrum disorder. The main barriers were limited knowledge among professionals (78.6%), delays in genetic testing (92.8%), and difficulties accessing therapies. Caregivers (12 mothers, 2 fathers; mean age, 38.0 years [SD, 4.1]; 57.1% with a college degree) reported a significant physical and emotional burden, with 92.8% providing full-time care without institutional support. The qualitative analysis revealed four themes: the diagnostic journey, the battle for therapy, the impact on family life, and the burden of care.
CONCLUSIONS: Diagnosis and care are hindered by knowledge gaps, systemic inefficiencies, and limited support. The findings highlight the need to improve education on rare diseases, streamline access to genetic testing and therapies, and implement support programs for caregivers.