Academic Journal
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome
| Title: | Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome |
|---|---|
| Authors: | Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela |
| Contributors: | Alfieri, Paolo, Macchiaiolo, Marina, Collotta, Martina, Montanaro, Federica Alice Maria, Caciolo, Cristina, Cumbo, Francesca, Galassi, Paolo, Panfili, Filippo Maria, Cortellessa, Fabiana, Zollino, Marcella, Accadia, Maria, Seri, Marco, Tartaglia, Marco, Bartuli, Andrea, Mammì, Corrado, Vicari, Stefano, Priolo, Manuela |
| Publication Year: | 2022 |
| Collection: | IRIS Università degli Studi di Bologna (CRIS - Current Research Information System) |
| Subject Terms: | Malan Syndrome, NFIX variant, adaptive behavior, cognition, intellectual disability, sensory processing |
| Description: | Malan Syndrome (MS) is an ultra-rare overgrowth genetic syndrome due to heterozygous variants or deletions in the Nuclear Factor I X (NFIX) gene. It is characterized by an unusual facial phenotype, generalized overgrowth, intellectual disability (ID) and behavioral problems. Even though limitations in cognitive and adaptive functioning have been previously described, systematic studies on MS cohorts are still lacking. Here, we aim to define the cognitive and adaptive behavior profile of MS children and adolescents, providing quantitative data from standardized evaluations. Subjects included in this study were evaluated from October 2020 to January 2022 and the study is based on a retrospective data archive: fifteen MS individuals were recruited and underwent evaluation with Wechsler Intelligence Scales, Leiter International Performance Scales and Griffith Mental Development Scales for cognitive profiles and with Vineland Adaptive Behavior Scales-II Edition (VABS-II) for adaptive functioning. Language skills and visuomotor integration abilities were assessed too. Comparisons and correlations between scales and subtests were performed. All the assessed MS individuals showed both low cognitive and adaptive functioning. One subject presented with mild ID, five had moderate ID and eight showed severe ID. One female toddler received a diagnosis of psychomotor delay. Linguistic skills were impaired in all individuals, with language comprehension relatively more preserved. Results revealed significant differences between VABS-II subdomains and a strong relationship between cognitive and adaptive functioning. All subjects exhibited mild to moderate ID and adaptive behavior lower than normal, with communication skills being the most affected. Regarding the daily living skills domain, personal and community subscale scores were dramatically lower than for the domestic subdomain, highlighting the importance of considering behavior within developmental and environmental contexts. Our cognitive and adaptive MS ... |
| Document Type: | article in journal/newspaper |
| File Description: | ELETTRONICO |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/35887841; info:eu-repo/semantics/altIdentifier/wos/WOS:000831514000001; volume:11; issue:14; firstpage:1; lastpage:13; numberofpages:13; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11585/919430 |
| DOI: | 10.3390/jcm11144078 |
| Availability: | https://hdl.handle.net/11585/919430 https://doi.org/10.3390/jcm11144078 https://www.mdpi.com/2077-0383/11/14/4078 |
| Rights: | info:eu-repo/semantics/openAccess ; license:Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY) ; license uri:iris.PUB15 |
| Accession Number: | edsbas.F6446041 |
| Database: | BASE |
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