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Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.

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Title: Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.
Authors: Mello, C. B. (AUTHOR), Bueno, O. F. A. (AUTHOR), Benedetto, L. M. (AUTHOR), Pimenta, L. S. E. (AUTHOR), Takeno, S. S. (AUTHOR), Melaragno, M. I. (AUTHOR), Meloni, V. A. (AUTHOR)
Source: Journal of Intellectual Disability Research. Mar2019, Vol. 63 Issue 3, p225-232. 8p. 1 Color Photograph, 3 Charts.
Subjects: Adaptability (Personality), Child Behavior Checklist, Child behavior, Chromosome abnormalities, Cognition, Language acquisition, People with intellectual disabilities, Neuropsychology, Social classes, Phenotypes, Socioeconomic factors, Educational attainment, Diagnosis
Geographic Terms: Brazil
Abstract: Background: The association of behavioural phenotype assessment with cytogenomic characterisation may provide a better comprehension of genotype–phenotype correlations in syndromes caused by chromosomal abnormalities, such as 18p deletion syndrome. Method: We report on four Brazilian patients with 18p deletion syndrome characterised by cytogenomic techniques and detailed neuropsychological evaluation. Intellectual, adaptive and behavioural characteristics were assessed through the Wechsler's Scales, the Vineland‐II Scale and the Child Behaviour Checklist, respectively. Socio‐economic measures including main caretaker educational level and family income as defined by Brazilian criteria for social class classification were also collected to evaluate a possible contribution of environmental factors in neurocognitive variability. Results: Two out of four patients showed intellectual disability (IQ < 70). Wechsler's scale results suggest that in our sample, interpretation of social situations based on observation of non‐verbal behaviour constitute a cognitive strength while judgement of social rules and language skills associated with word knowledge and verbal fluency may be a cognitive weakness. Concerning adaptive behaviour, motor and socialisation domains showed to better develop than communication and daily living skills on the Vineland‐II Scale. Only one patient presented internalising behavioural problems based on the Child Behaviour Checklist. Our results also suggested that socio‐economic status may contribute to overall patient development. Conclusion: Our results suggest that some 18p deletion syndrome patients may present average intellectual performance and that the segment deletion size and some families' socio‐economic conditions may influence cognitive development. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.
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  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Mello%2C+C%2E+B%2E%22&quot;&gt;Mello, C. B.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Bueno%2C+O%2E+F%2E+A%2E%22&quot;&gt;Bueno, O. F. A.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Benedetto%2C+L%2E+M%2E%22&quot;&gt;Benedetto, L. M.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Pimenta%2C+L%2E+S%2E+E%2E%22&quot;&gt;Pimenta, L. S. E.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Takeno%2C+S%2E+S%2E%22&quot;&gt;Takeno, S. S.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Melaragno%2C+M%2E+I%2E%22&quot;&gt;Melaragno, M. I.&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Meloni%2C+V%2E+A%2E%22&quot;&gt;Meloni, V. A.&lt;/searchLink&gt; (AUTHOR)
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  Data: Background: The association of behavioural phenotype assessment with cytogenomic characterisation may provide a better comprehension of genotype–phenotype correlations in syndromes caused by chromosomal abnormalities, such as 18p deletion syndrome. Method: We report on four Brazilian patients with 18p deletion syndrome characterised by cytogenomic techniques and detailed neuropsychological evaluation. Intellectual, adaptive and behavioural characteristics were assessed through the Wechsler&#39;s Scales, the Vineland‐II Scale and the Child Behaviour Checklist, respectively. Socio‐economic measures including main caretaker educational level and family income as defined by Brazilian criteria for social class classification were also collected to evaluate a possible contribution of environmental factors in neurocognitive variability. Results: Two out of four patients showed intellectual disability (IQ&#160;&lt;&#160;70). Wechsler&#39;s scale results suggest that in our sample, interpretation of social situations based on observation of non‐verbal behaviour constitute a cognitive strength while judgement of social rules and language skills associated with word knowledge and verbal fluency may be a cognitive weakness. Concerning adaptive behaviour, motor and socialisation domains showed to better develop than communication and daily living skills on the Vineland‐II Scale. Only one patient presented internalising behavioural problems based on the Child Behaviour Checklist. Our results also suggested that socio‐economic status may contribute to overall patient development. Conclusion: Our results suggest that some 18p deletion syndrome patients may present average intellectual performance and that the segment deletion size and some families&#39; socio‐economic conditions may influence cognitive development. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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        Value: 10.1111/jir.12568
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      – Code: eng
        Text: English
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    Subjects:
      – SubjectFull: Adaptability (Personality)
        Type: general
      – SubjectFull: Child Behavior Checklist
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      – SubjectFull: Chromosome abnormalities
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      – SubjectFull: Language acquisition
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      – SubjectFull: People with intellectual disabilities
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      – SubjectFull: Phenotypes
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      – SubjectFull: Brazil
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      – TitleFull: Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.
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              Text: Mar2019
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