Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study
This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndrome (FXS). Data from 53 families were collected using forms that included sociodemographic and clinical information, as well as the Beach Center Family Quality of Life Scale, a 5-point Likert scale ranging from “very dissatisfied” (1) to “very satisfied” (5). The mean overall FQoL score was 3.56 ± 0.79; the emotional well-being domain had the lowest score (2.98 ± 1.11) and showed significant differences between the other domains: family interaction (3.81 ± 0.89;p < 0.001),...
Source: Journal of Community Genetics - August 18, 2023 Category: Genetics & Stem Cells Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
CONCLUSION: The Face2Gene algorithm is separating well between FXS and Non-FXS subjects.PMID:37532084 | DOI:10.1016/j.ejmg.2023.104819 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - August 2, 2023 Category: Genetics & Stem Cells Authors: Toni Kasole Lubala Tony Kayembe-Kitenge Gerrye Mubungu Aim é Lumaka Gray Kanteng Sarah Savage Oscar Luboya Randi Hagerman Koenraad Devriendt Prosper Lukusa-Tshilobo Source Type: research
Prolonged and specific spatial training during adolescence reverses adult hippocampal network impairments in a mouse model of fragile X syndrome
Neurobiol Dis. 2023 Jul 27:106240. doi: 10.1016/j.nbd.2023.106240. Online ahead of print.ABSTRACTThe Fragile X Syndrome (FXS) is the leading monogenetic cause of cognitive impairment and autism. A hallmark of FXS patients and the FXS mouse model (Fmr1 KO) is an overabundance of immature appearing dendritic spines in the cortex and hippocampus which is associated with behavioral deficits. Spine analysis in the different hippocampal subregions and at different developmental stages revealed that in adult mice, hippocampal spine pathology occurs specifically in the CA3 subregion, which plays a pivotal role in pattern completio...
Source: Neurobiology of Disease - July 29, 2023 Category: Neurology Authors: Caroline Zeitouny Martin Korte Kristin Michaelsen-Preusse Source Type: research
