Electronic Resource
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome
| العنوان: | Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome |
|---|---|
| المؤلفون: | Alfieri, P., Macchiaiolo, M., Collotta, M., Montanaro, F. A. M., Caciolo, C., Cumbo, F., Galassi, P., Panfili, F. M., Cortellessa, F., Zollino, Marcella, Accadia, M., Seri, M., Tartaglia, M., Bartuli, A., Mammi, C., Vicari, Stefano, Priolo, M., Zollino M. (ORCID:0000-0003-4871-9519), Vicari S. (ORCID:0000-0002-5395-2262) |
| بيانات النشر: | MDPI 2022 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | 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 |
| مصطلحات الفهرس: | adaptive behavior, cognition, intellectual disability, Malan Syndrome, NFIX variants, sensory processing, Settore MED/03 - GENETICA MEDICA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article |
| URL: | info:eu-repo/semantics/altIdentifier/pmid/35887841 volume:11 issue:14 firstpage:4078 lastpage:N/A issueyear:2022 journal:JOURNAL OF CLINICAL MEDICINE |
| الاتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | English |
| Other Numbers: | SYC oai:publicatt.unicatt.it:10807/242674 10.3390/jcm11144078 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136358718 1397546055 |
| المصدر المساهم: | UNIV CATTOLICA DEL SACRO CUORE From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1397546055 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |