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Master's Dissertation
DOI
Document
Author
Full name
Larissa Salustiano Evangelista Pimenta
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2019
Supervisor
Committee
Kim, Chong Ae (President)
Kulikowski, Leslie Domenici
Paz, José Albino da
Teixeira, Maria Cristina Triguero Veloz
Title in Portuguese
Avaliação do fenótipo neurocognitivo e comportamental da síndrome da deleção 22q11.2
Keywords in Portuguese
Cognição
Escalas de Wechsler
Fenótipo
Genética Comportamental
Neuropsicologia
Síndrome de DiGeorge
Abstract in Portuguese
A Síndrome da Deleção 22q11.2 (SD22q11.2) envolve um fenótipo neurocognitivo muito heterogêneo. Com mais de 180 manifestações clínicas, físicas e comportamentais descritas, uma das principais características do espectro da síndrome são as altas taxas de transtornos psiquiátricos, em particular a esquizofrenia. Outra característica da síndrome é a variabilidade intelectual, que abrange desde desempenho médio até deficiência intelectual global, além e discrepâncias entre Quociente de Inteligência (QI) Verbal e QI Execução, apresentando maior prejuízo nas tarefas não verbais. O presente estudo teve por objetivo descrever o fenótipo comportamental de 30 pacientes com SD22q11.2, sendo 25 com deleção típica (3MB) e 5 casos de deleção atípica ( < 3MB), com idades variando de 7 anos a adultos, dando ênfase aos aspectos neurocognitivos e, considerando a influência das habilidades adaptativas, dos fatores ambientais e clínicos. O projeto envolveu avaliações intelectuais, neuropsicológicas, comportamentais e entrevistas com familiares e/ou responsáveis. Os resultados do presente estudo apontam para grande variabilidade no desempenho intelectual em ambas deleções: típicas e atípicas, e a presença de QI total variando da faixa média (QIT104) a deficiência (QIT42), indicando melhor desempenho no domínio verbal em comparação ao não-verbal. Na avalição do funcionamento neuropsicológico, destacam-se os maiores resultados nas provas de memória verbal e fragilidades cognitivas importantes em atenção, memória visual, habilidades visuoconstrutivas e no funcionamento executivo. Esses achados indicam que uma avaliação abrangente de aspectos do funcionamento neurocognitivo e comportamental pode contribuir para uma compreensão mais ampla do fenótipo neurocognitivo associado à SD22q11.2
Title in English
Evaluation of the neurocognitive and behavioral phenotype of the 22q11.2 deletion syndrome
Keywords in English
Behavioral genetics
Cognition
DiGeorge syndrome
Neuropsychology
Phenotype
Wechsler scales
Abstract in English
The Deletion Syndrome 22q11.2 (SD22q11.2) involves a very heterogeneous neurocognitive phenotype. More than 180 clinical, physical and behavioral manifestations were described and, one of the main characteristics of the spectrum of the syndrome are the high rates of psychiatric disorders, in particular schizophrenia. Another syndrome characteristic is the intellectual variability, which ranges from average performance to global intellectual disability, besides discrepancies between Verbal Intelligence (IQ) and IQ Execution, showing that greater impairment are in nonverbal tasks. The present study aimed to describe the behavioral phenotype of 30 patients with SD22q11.2, 25 with a typical deletion (3MB) and 5 cases of atypical deletion ( < 3MB), with ages varying from 7 years to adults, emphasizing neurocognitive aspects and considering the influence of adaptive abilities, in addition to environmental and clinical factors. The project covered intellectual, neuropsychological, behavioral assessments and interviews with family members and / or caregivers. The results of the present study point to great variability in intellectual performance for both typical and atypical deletions, and the presence of total IQ varying from average range (FSIQ104) to deficiency (FSIQ42), indicating a better verbal performance when compared to a non-verbal performance. In the assessment of neuropsychological functioning, the greatest results in verbal memory tests and important cognitive fragilities in attention, visual memory, visuoconstructive skills and executive functioning are the most outstanding. These findings indicate that a comprehensive assessment of aspects of neurocognitive and behavioral functioning may contribute to a broader understanding of the neurocognitive phenotype associated to SD22q11.2
 
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Publishing Date
2019-10-29
 
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