Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: recommendations for clinical management
| Autor: | Livia Garavelli, Liana Palermo, Chiara Gelmini, Francesca Fusco, Loredana Canzano, Maria Rosa Pizzamiglio, Filippo Bianchini, Matilde Valeria Ursini, Giovanni D’Antuono, Laura Piccardi |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty ikbkg/nemo Child Behavior Neuropsychological Tests calculation and arithmetic reasoning cognitive disability incontinentia pigmenti learning disabilities neuropsychological profile 03 medical and health sciences Cognition Intellectual Disability Behavioural phenotype IKBKG Intellectual disability Developmental and Educational Psychology medicine Humans Learning Child Competence (human resources) School age child Infant Incontinentia pigmenti medicine.disease 030104 developmental biology Neuropsychology and Physiological Psychology Child Preschool Learning disability Quality of Life Female medicine.symptom Psychology |
| Zdroj: | Europe PubMed Central Applied neuropsychology (2017): 1–8. doi:10.1080/21622965.2016.1188388 info:cnr-pdr/source/autori:Pizzamiglio M.R.; Piccardi L.; Bianchini F.; Canzano L.; Palermo L.; Fusco F.; D'Antuono G.; Gelmini C.; Garavelli L.; Ursini M.V./titolo:Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management/doi:10.1080%2F21622965.2016.1188388/rivista:Applied neuropsychology/anno:2017/pagina_da:1/pagina_a:8/intervallo_pagine:1–8/volume |
| DOI: | 10.1080/21622965.2016.1188388 |
| Popis: | Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age and two of these showed no intellectual disability, but had specific disabilities in calculation and arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to developmental age. We stress the importance of an early assessment of learning abilities in individuals with IP without intellectual deficiencies to prevent the onset of any such deficit. |
| Databáze: | OpenAIRE |
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