Description of Neuropsychological Profile in Patients with 22q11 Syndrome
Background: 22q11 deletion syndrome (SD22Q11) is a neurogenetic condition that is associated with a high risk of neurodevelopmental disorders and intellectual disability. People with SD22Q11, both children and adults, often experience significant difficulties in social interactions, as well as neuro...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-06-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/7/1347 |
| _version_ | 1797589148570222592 |
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| author | Joga-Elvira Lorena Palma-Robleda Sandra |
| author_facet | Joga-Elvira Lorena Palma-Robleda Sandra |
| author_sort | Joga-Elvira Lorena |
| collection | DOAJ |
| description | Background: 22q11 deletion syndrome (SD22Q11) is a neurogenetic condition that is associated with a high risk of neurodevelopmental disorders and intellectual disability. People with SD22Q11, both children and adults, often experience significant difficulties in social interactions, as well as neurocognitive deficits, and have elevated rates of autism spectrum disorder (ASD). Despite this, the relationship between basic cognitive processes and cognitive ability in this population has not been well investigated. Methods: the main objective of the present research is to describe the neurocognitive profile of people with SD22Q11 using standardized neuropsychological assessment instruments. For this purpose, a sample of 10 participants aged between 7 and 15 years was administered an assessment battery with the following tests: WISC-V, CELF-5, NEPSY-II, CSAT-R, CARAS-R, TP, MABC-2, BRIEF-2, SENA, DABAS, ABAS-II, SCQ, and ADOS-2. Results: the results showed IQ scores in the borderline normal range, as well as difficulties in language functions, social skills, motor skills, and executive functions. Conclusions: an individualized assessment taking into account the globality of its expression, and a therapeutic approach adapted to the specific needs of children with this syndrome is essential. |
| first_indexed | 2024-03-11T01:02:16Z |
| format | Article |
| id | doaj.art-0a88d59402a243f88a23ec19ca457468 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T01:02:16Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-0a88d59402a243f88a23ec19ca4574682023-11-18T19:29:05ZengMDPI AGGenes2073-44252023-06-01147134710.3390/genes14071347Description of Neuropsychological Profile in Patients with 22q11 SyndromeJoga-Elvira Lorena0Palma-Robleda Sandra1Pediatria, Parc Tauli Hospital Universitari, Institut d’Investigació i Innovació Parc Tauli (I3PT-CERCA), 08208 Sabadell, SpainUniversitat de Barcelona, 08007 Barcelona, SpainBackground: 22q11 deletion syndrome (SD22Q11) is a neurogenetic condition that is associated with a high risk of neurodevelopmental disorders and intellectual disability. People with SD22Q11, both children and adults, often experience significant difficulties in social interactions, as well as neurocognitive deficits, and have elevated rates of autism spectrum disorder (ASD). Despite this, the relationship between basic cognitive processes and cognitive ability in this population has not been well investigated. Methods: the main objective of the present research is to describe the neurocognitive profile of people with SD22Q11 using standardized neuropsychological assessment instruments. For this purpose, a sample of 10 participants aged between 7 and 15 years was administered an assessment battery with the following tests: WISC-V, CELF-5, NEPSY-II, CSAT-R, CARAS-R, TP, MABC-2, BRIEF-2, SENA, DABAS, ABAS-II, SCQ, and ADOS-2. Results: the results showed IQ scores in the borderline normal range, as well as difficulties in language functions, social skills, motor skills, and executive functions. Conclusions: an individualized assessment taking into account the globality of its expression, and a therapeutic approach adapted to the specific needs of children with this syndrome is essential.https://www.mdpi.com/2073-4425/14/7/134722q11.2 syndromeDiGeorge syndromevelocardiofacial syndromerare diseasecognitionneuropsychology |
| spellingShingle | Joga-Elvira Lorena Palma-Robleda Sandra Description of Neuropsychological Profile in Patients with 22q11 Syndrome Genes 22q11.2 syndrome DiGeorge syndrome velocardiofacial syndrome rare disease cognition neuropsychology |
| title | Description of Neuropsychological Profile in Patients with 22q11 Syndrome |
| title_full | Description of Neuropsychological Profile in Patients with 22q11 Syndrome |
| title_fullStr | Description of Neuropsychological Profile in Patients with 22q11 Syndrome |
| title_full_unstemmed | Description of Neuropsychological Profile in Patients with 22q11 Syndrome |
| title_short | Description of Neuropsychological Profile in Patients with 22q11 Syndrome |
| title_sort | description of neuropsychological profile in patients with 22q11 syndrome |
| topic | 22q11.2 syndrome DiGeorge syndrome velocardiofacial syndrome rare disease cognition neuropsychology |
| url | https://www.mdpi.com/2073-4425/14/7/1347 |
| work_keys_str_mv | AT jogaelviralorena descriptionofneuropsychologicalprofileinpatientswith22q11syndrome AT palmarobledasandra descriptionofneuropsychologicalprofileinpatientswith22q11syndrome |