[article]
| Titre : |
Characterisation of the clinical phenotype in Phelan-McDermid syndrome |
| Type de document : |
texte imprimé |
| Auteurs : |
Mónica BURDEUS-OLAVARRIETA, Auteur ; Antonia SAN JOSÉ-CÁCERES, Auteur ; Alicia GARCIA-ALCON, Auteur ; Javier GONZALEZ-PENAS, Auteur ; Patricia HERNÁNDEZ-JUSDADO, Auteur ; Mara PARELLADA-REDONDO, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Autism Spectrum Disorder/complications/genetics Child Chromosome Deletion Chromosome Disorders/complications/diagnosis/genetics Chromosomes, Human, Pair 22 Female Humans Phenotype 22q13 deletion syndrome Autism Intellectual disability Phelan-McDermid syndrome SHANK3 salary for the study coordination and data collection from Asociación Síndrome Phelan-McDermid España. ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and is involved in clinical trials conducted by Servier. The present work is unrelated to the above grants and relationships. MPR has been a consultant for Fundación Alicia Koplowitz, the EMA and Instituto de Salud Carlos III (ISCIII) consults for Servier and Exeltis has received grant/research support from CIBERSAM, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, ISCIII and Horizon2020 receives travel support from Exeltis and is involved in clinical trials conducted by Servier, F. Hoffmann-La Roche Ltd and Horizon2020. The present work is unrelated to the above grants and relationships. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developmental delay, ID, speech impairments, hypotonia and autistic behaviours, although its presentation and symptom severity vary widely. In this study, we provide a thorough description of the behavioural profile in PMS and explore differences related to deletion size and language ability. METHODS: We used standard clinical assessment instruments to measure altered behaviour, adaptive skills and autistic symptomatology in sixty participants with PMS (30 females, median age 8.5 years, SD=7.1). We recorded background information and other clinical manifestations and explored associations with deletion size. We performed descriptive and inferential analyses for group comparison. RESULTS: We found delayed gross and fine motor development, delayed and impaired language (~70% of participants non or minimally verbal), ID of different degrees and adaptive functioning ranging from severe to borderline impairment. Approximately 40% of participants experienced developmental regression, and half of those regained skills. Autistic symptoms were frequent and variable in severity, with a median ADOS-2 CSS score of 6 for every domain. Sensory processing anomalies, hyperactivity, attentional problems and medical comorbidities were commonplace. The degree of language and motor development appeared to be associated with deletion size. CONCLUSIONS: This study adds to previous research on the clinical descriptions of PMS and supports results suggesting wide variability of symptom severity and its association with deletion size. It makes the case for suitable psychotherapeutic and pharmacological approaches, for longitudinal studies to strengthen our understanding of possible clinical courses and for more precise genomic analysis. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-021-09370-5 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 |
in Journal of Neurodevelopmental Disorders > 13 (2021)
[article] Characterisation of the clinical phenotype in Phelan-McDermid syndrome [texte imprimé] / Mónica BURDEUS-OLAVARRIETA, Auteur ; Antonia SAN JOSÉ-CÁCERES, Auteur ; Alicia GARCIA-ALCON, Auteur ; Javier GONZALEZ-PENAS, Auteur ; Patricia HERNÁNDEZ-JUSDADO, Auteur ; Mara PARELLADA-REDONDO, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 13 (2021)
| Mots-clés : |
Autism Spectrum Disorder/complications/genetics Child Chromosome Deletion Chromosome Disorders/complications/diagnosis/genetics Chromosomes, Human, Pair 22 Female Humans Phenotype 22q13 deletion syndrome Autism Intellectual disability Phelan-McDermid syndrome SHANK3 salary for the study coordination and data collection from Asociación Síndrome Phelan-McDermid España. ASJC has been a consultant for F. Hoffmann-La Roche Ltd, consults for Servier and is involved in clinical trials conducted by Servier. The present work is unrelated to the above grants and relationships. MPR has been a consultant for Fundación Alicia Koplowitz, the EMA and Instituto de Salud Carlos III (ISCIII) consults for Servier and Exeltis has received grant/research support from CIBERSAM, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, ISCIII and Horizon2020 receives travel support from Exeltis and is involved in clinical trials conducted by Servier, F. Hoffmann-La Roche Ltd and Horizon2020. The present work is unrelated to the above grants and relationships. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: Phelan-McDermid syndrome (PMS) is a rare genetic disorder compromising the 22q13 terminal region and affecting SHANK3, a gene crucial to the neurobehavioural phenotype and strongly linked to autism (ASD) and intellectual disability (ID). The condition is characterised by global developmental delay, ID, speech impairments, hypotonia and autistic behaviours, although its presentation and symptom severity vary widely. In this study, we provide a thorough description of the behavioural profile in PMS and explore differences related to deletion size and language ability. METHODS: We used standard clinical assessment instruments to measure altered behaviour, adaptive skills and autistic symptomatology in sixty participants with PMS (30 females, median age 8.5 years, SD=7.1). We recorded background information and other clinical manifestations and explored associations with deletion size. We performed descriptive and inferential analyses for group comparison. RESULTS: We found delayed gross and fine motor development, delayed and impaired language (~70% of participants non or minimally verbal), ID of different degrees and adaptive functioning ranging from severe to borderline impairment. Approximately 40% of participants experienced developmental regression, and half of those regained skills. Autistic symptoms were frequent and variable in severity, with a median ADOS-2 CSS score of 6 for every domain. Sensory processing anomalies, hyperactivity, attentional problems and medical comorbidities were commonplace. The degree of language and motor development appeared to be associated with deletion size. CONCLUSIONS: This study adds to previous research on the clinical descriptions of PMS and supports results suggesting wide variability of symptom severity and its association with deletion size. It makes the case for suitable psychotherapeutic and pharmacological approaches, for longitudinal studies to strengthen our understanding of possible clinical courses and for more precise genomic analysis. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-021-09370-5 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 |
|  |
Characterisation of the clinical phenotype in Phelan-McDermid syndrome in Journal of Neurodevelopmental Disorders, 13 (2021)
