FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring / Reymundo LOZANO in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring Type de document : texte imprimé Auteurs : Reymundo LOZANO, Auteur ; Catherine GBEKIE, Auteur ; Paige M. SIPER, Auteur ; Shubhika SRIVASTAVA, Auteur ; Jeffrey M. SALAND, Auteur ; Swathi SETHURAM, Auteur ; Lara TANG, Auteur ; Elodie DRAPEAU, Auteur ; Yitzchak FRANK, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Forkhead Transcription Factors  Humans  In Situ Hybridization, Fluorescence  Intellectual Disability  Repressor Proteins  Asd  Autism spectrum disorder  Foxp1  FOXP1 syndrome  Forkhead box protein 1  Acadia, Ritrova, and Alkermes. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09358-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring [texte imprimé] / Reymundo LOZANO, Auteur ; Catherine GBEKIE, Auteur ; Paige M. SIPER, Auteur ; Shubhika SRIVASTAVA, Auteur ; Jeffrey M. SALAND, Auteur ; Swathi SETHURAM, Auteur ; Lara TANG, Auteur ; Elodie DRAPEAU, Auteur ; Yitzchak FRANK, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder  Forkhead Transcription Factors  Humans  In Situ Hybridization, Fluorescence  Intellectual Disability  Repressor Proteins  Asd  Autism spectrum disorder  Foxp1  FOXP1 syndrome  Forkhead box protein 1  Acadia, Ritrova, and Alkermes. The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome. En ligne : https://dx.doi.org/10.1186/s11689-021-09358-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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