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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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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<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
Publisher
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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
Creator
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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
An account of the resource
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.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.b.32224" target="_blank" rel="noreferrer noopener">10.1002/ajmg.b.32224</a>
Rights
Information about rights held in and over the resource
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
-
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
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1002/ajmg.a.20191" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.20191</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
A name given to the resource
Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms
Publisher
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American Journal of Medical Genetics Part A
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Infant; Gastroesophageal Reflux; De Lange Syndrome; Esophagogastric Junction; feeding difficulties; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Luzzani S; Macchini F; Valadè A; Milani D; Selicorni A
Description
An account of the resource
As previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS (mild/classical according to Van Allen classification) were evaluated in a series of 43 patients. The pattern of presenting symptoms and their clinical evolution after medical or surgical treatment were also studied. A pathological GER was evident in 28/43 (65%) CDLS patients. The incidence of the complication was not significantly different in patients with classical (93.3%) vs. mild phenotype (82.3%), whereas a strong correlation was present between the degree of the esophageal damage and the clinical phenotype. A behavioral symptom (hyperactivity) was the most frequent sign associated with the condition (85%). Our data confirm the high occurrence of GER in CDLS patients, independently from the CDLS clinical phenotype. Regarding the severity of the esophageal lesions, a significant difference between the two clinical CDLS phenotypes was found. The evaluation of the presenting symptoms and of their evolution during the treatment emphasizes the importance of behavioral symptoms as major signs of esophageal damage in CDLS.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.20191" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.20191</a>
Rights
Information about rights held in and over the resource
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).
2003
Adolescent
Adult
American Journal of Medical Genetics Part A
characteristics
Child
Child Preschool
De Lange syndrome
Esophagogastric Junction
feeding difficulties
Female
Gastroesophageal Reflux
Humans
Infant
Luzzani S
Macchini F
Male
Milani D
Selicorni A
Trajectory
Valadè A