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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
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Giovanna Cantini Tolezano; Giovanna Civitate Bastos; Silvia Souza da Costa; Bruna Lucheze Freire; Thais Kataoka Homma; Rachel Sayuri Honjo; Guilherme Lopes Yamamoto; Maria Rita Passos-Bueno; Celia Priszkulnik Koiffmann; Chong Ae Kim; Angela Maria Vianna-Morgante; Alexander Augusto de Lima Jorge; Débora Romeo Bertola; Carla Rosenberg; Ana Cristina Victorino Krepischi – Journal of Autism and Developmental Disorders, 2024
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review…
Descriptors: Foreign Countries, Genetics, Genetic Disorders, Neurodevelopmental Disorders
Effects of Family-Focused Early Intervention on the Neurodevelopment of Children at Biological and/or Social Risks: A Quasi-Experimental Randomized Controlled Trial
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Ferreira, Rachel de Carvalho; Alves, Claudia Regina Lindgren; Magalhães, Lívia de Castro – Early Child Development and Care, 2022
The aim was to evaluate the effects of a family-focused early intervention programme on the cognitive, motor, and language development of infants exposed to social and biological risks in the first year of life. Quasi-experimental randomized controlled trial (RBR-6ct969), with intervention (IG; n = 72) and control (CG; n = 170) groups. IG mothers…
Descriptors: Infants, Early Intervention, Family Involvement, Neurodevelopmental Disorders