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Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey
Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manif...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528631/ https://www.ncbi.nlm.nih.gov/pubmed/37761403 http://dx.doi.org/10.3390/children10091442 |
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author | Leoncini, Silvia Boasiako, Lidia Lopergolo, Diego Altamura, Maria Fazzi, Caterina Canitano, Roberto Grosso, Salvatore Meloni, Ilaria Baldassarri, Margherita Croci, Susanna Renieri, Alessandra Mastrangelo, Mario De Felice, Claudio |
author_facet | Leoncini, Silvia Boasiako, Lidia Lopergolo, Diego Altamura, Maria Fazzi, Caterina Canitano, Roberto Grosso, Salvatore Meloni, Ilaria Baldassarri, Margherita Croci, Susanna Renieri, Alessandra Mastrangelo, Mario De Felice, Claudio |
author_sort | Leoncini, Silvia |
collection | PubMed |
description | Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manifestations for the Italian IQSEC2 population (>90%) by using structured family interviews and semi-quantitative questionnaires. IQSEC2 encephalopathy prevalence estimate was 7.0 to 7.9 × 10(−7). Criteria for typical RTT were met in 42.1% of the cases, although psychomotor regression was occasionally evidenced. Genetic diagnosis was occasionally achieved in infancy despite a clinical onset before the first 24 months of life. High severity in both the CNS and extra-CNS manifestations for the IQSEC2 patients was documented and related to a consistently adverse quality of life. Neurodevelopmental delay was diagnosed before the onset of epilepsy by 1.8 to 2.4 years. An earlier age at menarche in IQSEC2 female patients was reported. Sleep disturbance was highly prevalent (60 to 77.8%), with mandatory co-sleeping behavior (50% of the female patients) being related to de novo variant origin, younger age, taller height with underweight, better social interaction, and lower life quality impact for the family and friends area. In conclusion, the IQSEC2 encephalopathy is a rare and likely underdiagnosed developmental encephalopathy leading to an adverse life quality impact. |
format | Online Article Text |
id | pubmed-10528631 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-105286312023-09-28 Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey Leoncini, Silvia Boasiako, Lidia Lopergolo, Diego Altamura, Maria Fazzi, Caterina Canitano, Roberto Grosso, Salvatore Meloni, Ilaria Baldassarri, Margherita Croci, Susanna Renieri, Alessandra Mastrangelo, Mario De Felice, Claudio Children (Basel) Article Pathogenic loss-of-function variants in the IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause intellectual disability with Rett syndrome (RTT)-like features. The aim of this study was to obtain systematic information on the natural history and extra-central nervous system (CNS) manifestations for the Italian IQSEC2 population (>90%) by using structured family interviews and semi-quantitative questionnaires. IQSEC2 encephalopathy prevalence estimate was 7.0 to 7.9 × 10(−7). Criteria for typical RTT were met in 42.1% of the cases, although psychomotor regression was occasionally evidenced. Genetic diagnosis was occasionally achieved in infancy despite a clinical onset before the first 24 months of life. High severity in both the CNS and extra-CNS manifestations for the IQSEC2 patients was documented and related to a consistently adverse quality of life. Neurodevelopmental delay was diagnosed before the onset of epilepsy by 1.8 to 2.4 years. An earlier age at menarche in IQSEC2 female patients was reported. Sleep disturbance was highly prevalent (60 to 77.8%), with mandatory co-sleeping behavior (50% of the female patients) being related to de novo variant origin, younger age, taller height with underweight, better social interaction, and lower life quality impact for the family and friends area. In conclusion, the IQSEC2 encephalopathy is a rare and likely underdiagnosed developmental encephalopathy leading to an adverse life quality impact. MDPI 2023-08-24 /pmc/articles/PMC10528631/ /pubmed/37761403 http://dx.doi.org/10.3390/children10091442 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Leoncini, Silvia Boasiako, Lidia Lopergolo, Diego Altamura, Maria Fazzi, Caterina Canitano, Roberto Grosso, Salvatore Meloni, Ilaria Baldassarri, Margherita Croci, Susanna Renieri, Alessandra Mastrangelo, Mario De Felice, Claudio Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey |
title | Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey |
title_full | Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey |
title_fullStr | Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey |
title_full_unstemmed | Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey |
title_short | Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey |
title_sort | natural course of iqsec2-related encephalopathy: an italian national structured survey |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528631/ https://www.ncbi.nlm.nih.gov/pubmed/37761403 http://dx.doi.org/10.3390/children10091442 |
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