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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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<a href="http://doi.org/10.1002/ajmg.b.32224" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.b.32224</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Communication, Cognitive Development and Behavior in Children With Cornelia de Lange Syndrome (CdLS): Preliminary Results
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Date
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2014
Subject
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Genetics & Heredity; brachmann-delange syndrome; individuals; phenotype; Psychiatry; language-skills; AAC (augmentative and alternative communication); ability; autistic behavior; CdLS; delange cornelia; intellectual disability (ID); morphosyntactic; normal intelligence; behavioral symptoms; behavior; tone and motor; De Lange syndrome; trajectory; characteristics; externalizing behavior
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Ajmone P F; Rigamonti C; Dall'Ara F; Monti F; Vizziello P; Milani D; Cereda A; Selicorni A; Costantino A
Description
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In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5- to 13.4-year-old. Cognitive level of the subjects differed from what previously described in literature, showing more patients with normal or borderline cognitive abilities. We found a relation between severe autistic behavior and comprehension impairments: all children with high CARS score have severe receptive language disability. A correlation was also found between CARS score and ID: high CARS score occurred only in patients with profound levels of ID. Results of this study support the need for a specific assessment protocol tailored for the characteristics of subjects with multiple disabilities, to be able to identify their strengths avoiding the avalanche effect of weaknesses. Most tests on neuropsychological functions have been developed and standardized for typically developing children, and require the integrity of other functions aside the one that is evaluated, determining an underestimation of the level of functioning. This study could be a starting point to develop new models applicable to other genetic syndromes and complex situations; new and wider studies are needed in order to allow a more complete and accurate assessment, thereby ensuring more efficient and family-centered treatment plans. (c) 2014 Wiley Periodicals, Inc.
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<a href="http://doi.org/10.1002/ajmg.b.32224" target="_blank" rel="noreferrer noopener">10.1002/ajmg.b.32224</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2014
AAC (augmentative and alternative communication)
ability
Ajmone P F
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
autistic behavior
Behavior
behavioral symptoms
brachmann-delange syndrome
CdLS
Cereda A
characteristics
Costantino A
Dall'Ara F
De Lange syndrome
delange cornelia
externalizing behavior
Genetics & Heredity
INDIVIDUALS
intellectual disability (ID)
language-skills
Milani D
Monti F
morphosyntactic
normal intelligence
Phenotype
Psychiatry
Rigamonti C
Selicorni A
tone and motor
Trajectory
Vizziello P