1
40
1
-
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.c.31497" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.c.31497</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
Sleep disorders in Cornelia de Lange syndrome
Publisher
An entity responsible for making the resource available
American Journal of Medical Genetics Part C - Seminars in Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2016
Subject
The topic of the resource
adolescent; problem behavior; priority journal; gene mutation; intellectual impairment; human; article; child; female; male; controlled study; adult; clinical article; comorbidity; epilepsy; de Lange syndrome; sleep disorder; body mass; gastroesophageal reflux; gene; HDAC8 gene; histone deacetylase 8; NIPBL gene; RAD21 gene; SMC1A gene; SMC3 gene; sleep disturbance/disorders; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Zambrelli E;Fossati C;Turner K;Taiana M;Vignoli A;Gervasini C;Russo S;Furia F;Masciadri M;Ajmone P;Kullman G; Canevini M P; Selicorni A
Description
An account of the resource
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by growth retardation, intellectual disability, limb defects, typical facial dysmorphism, and other systemic involvement. Sleep disturbances have been frequently reported in CdLS, but these have not been completely characterized, and prevalence data are conflicting. The aim of this paper is to characterize and determine the prevalence of sleep disorders in CdLS patients by means of a validated questionnaire. From November 2012 to November 2013, we asked 46 consecutive parents/caregivers of CdLS patients aged more than 3 years old to fill out the sleep disturbances scale for children (SDSC). The subjects were also characterized by the presence of epilepsy, intellectual disability (ID), behavioral problems, CdLS severity score, gastroesophageal reflux disease (GERD), and genetic test results. An abnormal total sleep score was found in 7 patients (15.2%), 26 (56.5%) showed a borderline total score, and 18 (39.1%) had an abnormal score for at least one SDSC factor. In our study sleep disorders were found to be positively associated to presence of epilepsy, GERD, ID, and behavioral disturbances. No correlation was evident with specific mutations of the different genes, BMI, and severity score. Our results confirm that sleep disorders represent a common problem in CdLS, with higher incidence than in the normal population. In these patients sleep disorders seem to be more prevalent in comorbid settings, representing a clinical indicator for different medical and neuropsychiatric disorders. Better knowledge and characterization of typology of sleep disorders in CdLS patients could permit a more specific therapeutic approach. © 2016 Wiley Periodicals, Inc.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.c.31497" target="_blank" rel="noreferrer noopener">10.1002/ajmg.c.31497</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).
2016
Adolescent
Adult
Ajmone P
American Journal of Medical Genetics Part C - Seminars in Medical Genetics
Article
body mass
Canevini M P
characteristics
Child
Clinical Article
Comorbidity
Controlled Study
De Lange syndrome
Epilepsy
Female
Fossati C
Furia F
Gastroesophageal Reflux
gene
gene mutation
Gervasini C
HDAC8 gene
histone deacetylase 8
Human
Intellectual Impairment
Kullman G
Male
Masciadri M
NIPBL gene
Priority Journal
problem behavior
RAD21 gene
Russo S
Selicorni A
sleep disorder
sleep disturbance/disorders
SMC1A gene
SMC3 gene
Taiana M
Trajectory
Turner K
Vignoli A
Zambrelli E