Neurodesenvolvimento e fenótipo cognitivo comportamental na síndrome kabuki

• Ano de defesa: 2016
• Autor(a) principal: Luce, Ana Luiza Pilla [UNIFESP]
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• dARK ID: ark:/48912/001300001pbxm
• Idioma: por
• Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
• Palavras-chave em Português: Kabukis's syndrome; Neuropsychology; Neurodevelopmental deficits; Intellectual disability; Genetics; Developmental delays; Síndrome de Kabuki; Deficiência intelectual; Neuropsicologia; Transtornos do neurodesenvolvimento; Deficiências do desenvolvimento; Genética
• Link de acesso: https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=4265838; http://repositorio.unifesp.br/handle/11600/47118

Objective: To describe neurocognitive and behavioral aspects in pediatric patients diagnosed with Kabuki Syndrome, a rare genetic condition whose neurobehavioral phenotype is not well known and involves associations with clinical and socioenvironmental variables. Method: This is a case-series observational study, whose sample involved 8 male patients aged 2 to 18 years-old. All of them underwent clinical genetic evaluation, as well as intellectual, behavioral and socio-environmental performance evaluations through specific tests and scales, prioritizing the normative data validated to the Brazilian population. Behavioral phenotype evaluation investigated qualitative standards for verbal and non-verbal performance, global cognitive performance in intelligence neuropsychological tests and behavioral scales of adaptive and neuropsychomotor development. The emphasis was on the identification of areas with greater fragility and better potentiality, in and inter- and intra-subject perspective, considering the influence of environmental variables such as family income, parents? level of education and parental style. Results: Among clinical aspects, there was a prevalence of neurodevelopmental delay, oral and muscular hypotonia, and mouth breathing in all samples. There was nocturnal lagophtalmos in seven patients and sleep alterations in six of the eight cases. Intellectual quotient ranged between compatibility with borderline classification in three patients, slight disability in one case and non-quantifiable in three cases with massive losses in adaptive skills. There was a significant verbal index improvement when compared to the execution index. That indicates an immature development of skills with greater dependence on visual-spatial processing. In an assessment with the Vineland Scale, the fields of adaptive skills related to communication and daily chores were the most impaired, in comparison to socialization and motor skills. Schooling difficulties were reported in all patients in school age, even those with no intellectual disability. Two cases met the criteria for Austistic Spectrum Disorder. Neuropsychological evaluation revealed indicators for visual-spatial and visual constructive disorders, as well as in the executive function, regardless of the presence of intellectual disability. Internalizing behavior problems were more frequente than externalizing ones. Conclusion: Findings suggest that neurodevelopmental delays, oral and global hypotonia, mouth breathing, lagophtalmia, and learning difficulties may be considered supporting criteria in the diagnosis of Kabuki Syndrome, additionally to the five cardinal criteria established by literature. Research on sleep disorders is suggested. Despite the heterogeneity in cognitive and behavioral expressions, intellectual performance in this syndrome may reach average levels in some cases, with immaturity in communication skills, daily chores and executive function, visual-spatial and visual-constructive disorders, as well as behavioral problems of the internalizing type. Thus, delimiting the behavioral phenotype in clinical, social-emotional and integrated adaptive patterns may contribute for the elaboration of positive strategies for early detection and intervention in patients with Kabuki Syndrome.