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Direct linkGiovanna 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
Pereira, Rafaela Catelan Martins; Apis, Aline; dos Santos, Thamires Rosa; de Avó, Lucimar Retto da Silva; Pilotto, Rui Fernando; Germano, Carla Maria Ramos; Melo, Débora Gusmão – Journal of Intellectual Disabilities, 2023
This cross-sectional and descriptive study examined the family quality of life (FQoL) among 72 Brazilian families who have children with Williams syndrome, a rare genetic disorder in which most individuals have an intellectual disability, usually mild. Data were collected using sociodemographic and clinical data forms and the Beach Center FQoL…
Descriptors: Foreign Countries, Quality of Life, Genetic Disorders, Intellectual Disability
Osório, Ana Alexandra Caldas; do Egito, Júlia Horta Tabosa; Martins, Gabriela Carneiro; Kim, Chong Ae; Honjo, Rachel Sayuri; Sampaio, Adriana da Conceição Soares; Mesquita, Ana Raquel Marcelino; Macedo, Elizeu Coutinho; Boggio, Paulo Sérgio; Teixeira, Maria Cristina Triguero Veloz – International Journal of Developmental Disabilities, 2019
Objective: Fetal testosterone (fT) has organizational effects on the developing human nervous system and can be reliably estimated by the ratio between the length of the second and fourth digits -- 2D:4D. Previous studies reported altered patterns of fT in some developmental disabilities (e.g. ASD) relative to typically developing individuals…
Descriptors: Correlation, Prosocial Behavior, Prenatal Influences, Males
Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika – Down Syndrome Research and Practice, 2009
Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…
Descriptors: Hospitals, Down Syndrome, Patients, Genetics
Download full textPracana, Clara, Ed.; Silva, Liliana, Ed. – Online Submission, 2013
We are delighted to welcome you to the International Psychological Applications Conference and Trends 2013, taking place in Madrid, Spain, from 26 to 28 of April. Our efforts and active engagement can now be rewarded with these three days of exciting new developments about what we are passionate about: Psychology and its connections. We take pride…
Descriptors: Educational Psychology, Psychoeducational Methods, Elementary School Students, Student Attitudes
