Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior

Autor: Lorena Joga-Elvira, María-Luisa Joga, Carme Brun-Gasca, Ana Roche-Martínez, Carlos Jacas-Escarcelle

Publikováno v: American Journal of Medical Genetics Part A. 185:1448-1460

Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability. The objective of this research is to analyze the relationship between linguistic functions and performance of the following neuropsychological functions: executive, q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda3833b1e0d4ed8ad5021585c921c3
https://doi.org/10.1002/ajmg.a.62130

Pilot study of socio-emotional factors and adaptive behavior in young females with fragile X syndrome

Autor: Carme Brun-Gasca, María-Luisa Joga, Lorena Joga-Elvira, Carlos Jacas, Ana Roche-Martínez

Publikováno v: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 27(7)

Girls with Fragile-X-Syndrome (FXS) present high levels of social anxiety, social avoidance, extreme shyness, tendency to social isolation, poor eye contact, learning difficulties, and depression. The aims of the present study, which is based on a gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55e2c963bab9cae9d251eae40b99dff
https://pubmed.ncbi.nlm.nih.gov/34002674

Fragile X syndrome in young females: Influence of executive function on the neurocognitive profile and adaptive behavior

Autor: María Luisa Joga, Carme Brun-Gasca, Ana Roche-Martínez, Carlos Jacas, Lorena Joga-Elvira

Publikováno v: Research in developmental disabilities. 112

Introduction The aim of this study is to describe the relationship between executive function (EF) and performance in different areas of the neurocognitive profile in young girls with Fragile-X-Syndrome (FXS). Method A neuropsychological assessment w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff3425fd7ce5f177a8432f9d36b78b1a
https://pubmed.ncbi.nlm.nih.gov/33639603

Analysis of the Phenotypes in the Rett Networked Database

Autor: Rajni Khajuria, Maria Pintaudi, Silvia Russo, Angus John Clarke, Nadia Bahi-Buisson, Barbara Montomoli, Laurent Villard, Victoria Voinova, Bruria Ben-Zeev, Kirstine Ravn, Edvige Veneselli, Thierry Bienvenu, Elisa Grillo, Francesca Cogliati, Vlatka Mejaški Bošnjak, Giorgio Pini, Mercedes Pineda, Milena Djuric, Caterina Lo Rizzo, Andreea Nissenkorn, Aglaia Vignoli, Joussef Hayek, Anne Marie Bisgaard, Dana Craiu, Alessandra Renieri, Kinga Hadzsiev, Elisa Frullanti, Aleksandra Djukic, Ana Roche Martínez, Francesca Mari, Judith Armstrong, Filomena Tiziana Papa

Publikováno v: International journal of genomics
International journal of genomics, Hindawi Publishing Corporation, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
INTERNATIONAL JOURNAL OF GENOMICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
International Journal of Genomics, Vol 2019 (2019)
International Journal of Genomics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1 mutations have been reported in Rett patients, espec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e1d23d18d3ea345b75cd863d42e133
https://hal-amu.archives-ouvertes.fr/hal-02417606

Reflex seizures in Rett syndrome

Autor: Mercé Pineda Marfa, Judith Armstrong Morón, M Itziar Alonso Colmenero, Ana Roche Martínez, Francesc X. Sanmartí Vilaplana, Andreia Gomes Pereira

Publikováno v: Epileptic Disorders. 13:389-393

Reflex seizures are a rare phenomenon among epileptic patients, in which an epileptic discharge is triggered by various kinds of stimuli (visual, auditory, tactile or gustatory). Epilepsy is common in Rett syndrome patients (up to 70%), but to the au

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1329d620ca7aec88d6cdb01bd9130b95
https://doi.org/10.1684/epd.2011.0475