Cargando…
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome
KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Concerning the behavioral phenotype, a limited amoun...
Autores principales: | , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895923/ https://www.ncbi.nlm.nih.gov/pubmed/31703437 http://dx.doi.org/10.3390/brainsci9110313 |
_version_ | 1783476664046452736 |
---|---|
author | Alfieri, Paolo Demaria, Francesco Licchelli, Serena Santonastaso, Ornella Caciolo, Cristina Digilio, Maria Cristina Sinibaldi, Lorenzo Leoni, Chiara Gnazzo, Maria Tartaglia, Marco Pasqualetti, Patrizio Vicari, Stefano |
author_facet | Alfieri, Paolo Demaria, Francesco Licchelli, Serena Santonastaso, Ornella Caciolo, Cristina Digilio, Maria Cristina Sinibaldi, Lorenzo Leoni, Chiara Gnazzo, Maria Tartaglia, Marco Pasqualetti, Patrizio Vicari, Stefano |
author_sort | Alfieri, Paolo |
collection | PubMed |
description | KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Concerning the behavioral phenotype, a limited amount of research has been focused on attention deficit and hyperactivity disorder, autistic-like features, anxiety and impairments in emotion regulation, and no study has provided a systematic assessment. The aim of the present work is to investigate the psychopathological profile in children, adolescents, and young adults with KBG syndrome. Seventeen subjects with molecularly confirmed diagnoses were evaluated to investigate cognitive abilities and psychopathological features. Parametric and nonparametric indexes were used to describe the patient cohort according to type and distribution of specific measures. The KBG subjects were characterized by a low mean IQ score, with a distribution characterized by a variability similar to that occurring in the general population. Prevalence of neuropsychiatric disorders were computed as well as the corresponding confidence intervals to compare their prevalence to that reported for the general population. The KBG subjects were characterized by higher prevalence of obsessive-compulsive, tic, depressive and attention deficit and hyperactivity disorders. Obsessive-compulsive disorder is a peculiar aspect characterizing the psychopathological profile of KBG patients, which does not seem to be related to the cognitive level. The present study provides new relevant information towards the definition of a psychopathological phenotype of KBG syndromes useful to plan a better treatment for patients. |
format | Online Article Text |
id | pubmed-6895923 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-68959232019-12-24 Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome Alfieri, Paolo Demaria, Francesco Licchelli, Serena Santonastaso, Ornella Caciolo, Cristina Digilio, Maria Cristina Sinibaldi, Lorenzo Leoni, Chiara Gnazzo, Maria Tartaglia, Marco Pasqualetti, Patrizio Vicari, Stefano Brain Sci Article KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Concerning the behavioral phenotype, a limited amount of research has been focused on attention deficit and hyperactivity disorder, autistic-like features, anxiety and impairments in emotion regulation, and no study has provided a systematic assessment. The aim of the present work is to investigate the psychopathological profile in children, adolescents, and young adults with KBG syndrome. Seventeen subjects with molecularly confirmed diagnoses were evaluated to investigate cognitive abilities and psychopathological features. Parametric and nonparametric indexes were used to describe the patient cohort according to type and distribution of specific measures. The KBG subjects were characterized by a low mean IQ score, with a distribution characterized by a variability similar to that occurring in the general population. Prevalence of neuropsychiatric disorders were computed as well as the corresponding confidence intervals to compare their prevalence to that reported for the general population. The KBG subjects were characterized by higher prevalence of obsessive-compulsive, tic, depressive and attention deficit and hyperactivity disorders. Obsessive-compulsive disorder is a peculiar aspect characterizing the psychopathological profile of KBG patients, which does not seem to be related to the cognitive level. The present study provides new relevant information towards the definition of a psychopathological phenotype of KBG syndromes useful to plan a better treatment for patients. MDPI 2019-11-07 /pmc/articles/PMC6895923/ /pubmed/31703437 http://dx.doi.org/10.3390/brainsci9110313 Text en © 2019 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Alfieri, Paolo Demaria, Francesco Licchelli, Serena Santonastaso, Ornella Caciolo, Cristina Digilio, Maria Cristina Sinibaldi, Lorenzo Leoni, Chiara Gnazzo, Maria Tartaglia, Marco Pasqualetti, Patrizio Vicari, Stefano Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome |
title | Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome |
title_full | Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome |
title_fullStr | Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome |
title_full_unstemmed | Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome |
title_short | Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome |
title_sort | obsessive compulsive symptoms and psychopathological profile in children and adolescents with kbg syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895923/ https://www.ncbi.nlm.nih.gov/pubmed/31703437 http://dx.doi.org/10.3390/brainsci9110313 |
work_keys_str_mv | AT alfieripaolo obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT demariafrancesco obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT licchelliserena obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT santonastasoornella obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT caciolocristina obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT digiliomariacristina obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT sinibaldilorenzo obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT leonichiara obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT gnazzomaria obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT tartagliamarco obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT pasqualettipatrizio obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome AT vicaristefano obsessivecompulsivesymptomsandpsychopathologicalprofileinchildrenandadolescentswithkbgsyndrome |