1
40
24
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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.c.31497" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.c.31497</a>
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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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Sleep disorders in Cornelia de Lange syndrome
Publisher
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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>
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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
-
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/10.1016/j.ijporl.2010.11.003" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ijporl.2010.11.003</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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Characterization of sleep disturbance in Cornelia de Lange Syndrome
Publisher
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International Journal of Pediatric Otorhinolaryngology
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
The topic of the resource
Cornelia de Lange Syndrome; Sleep disordered breathing; Sleepiness; Snoring; breathing difficulties; sleep disturbance; De Lange syndrome; trajectory; characteristics; sleep disordered breathing
Creator
An entity primarily responsible for making the resource
Stavinoha Rose C; Kline A D; Levy H P; Kimball A; Mettel T L; Ishman S L
Description
An account of the resource
Prior studies have suggested that sleep disturbance is common in Cornelia de Lange Syndrome (CdLS); however, the nature of this sleep disturbance has not been well characterized. In this study, we evaluate the prevalence of sleep disordered breathing (SDB) and sleepiness in children and young adults with CdLS. Caregivers of 22 patients with CdLS completed 3 validated Pediatric Sleep Questionnaires: the Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime Sleepiness Scale (PDSS), and OSA18. Both measures of SDB (OSA18 and PSQ) suggest that 35–36% of these patients may have moderate to severe SDB. This is much higher than the general population estimates of 1–4% for SDB with a relative risk of 5.2 (95% CI: 2.8–9.9). Correlation between the OSA18 and PSQ was significant (R=0.67; 95% CI: 0.33–0.85, p=0.0007). Confirming these results among patients with a high probability of SDB (based upon OSA18 scores ≥60), there was a non-significant trend toward increased sleepiness with a relative risk of 2.0 (95% CI: 0.73–5.7, p=0.31) on the PDSS and 2.9 (95% CI: 0.93–9.1, p=0.08) on the PSQ sleepiness scale. In those patients with low probability of SDB (OSA18<60), sleepiness was still seen in 13–29% of patients. Overall 23–35% of participants were characterized as sleepy. Sleep disordered breathing and sleepiness appear to be common in CdLS although small sample sizes limit further conclusions. Additional studies with larger sample size and confirmation with polysomnography are needed to further explore the nature and extent of sleep disturbance in this population.
Identifier
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<a href="http://doi.org/10.1016/j.ijporl.2010.11.003" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2010.11.003</a>
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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).
2011
breathing difficulties
characteristics
Cornelia de Lange syndrome
De Lange syndrome
International Journal of Pediatric Otorhinolaryngology
Ishman S L
Kimball A
Kline A D
Levy H P
Mettel T L
Sleep disordered breathing
sleep disturbance
Sleepiness
snoring
Stavinoha Rose C
Trajectory
-
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.36573" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.36573</a>
Dublin Core
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Title
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Autism traits in children and adolescents with Cornelia de Lange syndrome
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
2014
Subject
The topic of the resource
Communication; adolescent; Autism; emotion; age; verbal communication; communication disorder; priority journal; interpersonal communication; skill; intellectual impairment; human; article; child; female; male; adult; diagnosis; clinical article; daily life activity; disease severity; autism; Cornelia de Lange syndrome; phenotype; compulsion; language; stereotypy; adaptive behavior; socialization; Aberrant Behavior Checklist; behavior disorder; Behavioral phenotype; checklist; Childhood Autism Rating Scale; de Lange syndrome; hyperactivity; lethargy; limb; maladjustment; psychological rating scale; rating scale; Repetitive behaviors; rigidity; social cognition; Social cognition; Vineland Adaptive Behaviors Scales; behavioral problems; De Lange syndrome; trajectory; characteristics; irritability
Creator
An entity primarily responsible for making the resource
Srivastava S; Landy-Schmitt C; Clark B; Kline A D; Specht M; Grados M A
Description
An account of the resource
Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n=7; 17.1%), "mild autism" (n=17; 41.4%), and "severe autism" (n=17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P<0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P=0.003), hyperactivity (P=0.01), and lethargy (P=0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P<0.0001) and communication (P=0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers. © 2014 Wiley Periodicals, Inc.
Identifier
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<a href="http://doi.org/10.1002/ajmg.a.36573" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.36573</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
Aberrant Behavior Checklist
adaptive behavior
Adolescent
Adult
Age
American Journal of Medical Genetics Part A
Article
Autism
behavior disorder
Behavioral phenotype
behavioral problems
characteristics
Checklist
Child
Childhood Autism Rating Scale
Clark B
Clinical Article
Communication
communication disorder
compulsion
Cornelia de Lange syndrome
daily life activity
De Lange syndrome
Diagnosis
Disease Severity
Emotion
Female
Grados M A
Human
hyperactivity
Intellectual Impairment
Interpersonal Communication
Irritability
Kline A D
Landy-Schmitt C
Language
lethargy
limb
maladjustment
Male
Phenotype
Priority Journal
psychological rating scale
Rating Scale
Repetitive behaviors
rigidity
Skill
social cognition
Socialization
Specht M
Srivastava S
stereotypy
Trajectory
Verbal Communication
Vineland Adaptive Behaviors Scales
-
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.1320470719" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.1320470719</a>
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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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Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome
Publisher
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American Journal of Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
1993
Subject
The topic of the resource
Child; Humans; Adult; Adolescent; Infant; Posture; De Lange Syndrome/complications; Esophagitis/complications/prevention & control; Gastroesophageal Reflux/complications; Spasm/complications; Torticollis/complications; NET Files; child; adult; De Lange Syndrome/co [Complications]; Gastroesophageal Reflux/co [Complications]; Torticollis/co [Complications]; Esophagitis/co [Complications]; Esophagitis/pc [Prevention & Control]; Spasm/co [Complications]; feeding difficulties; De Lange syndrome; trajectory; characteristics; gastroesophageal reflux; GERD; Sandifer complex
Creator
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Sommer A
Description
An account of the resource
Gastroesophageal reflux is a common occurrence in infancy. The most severe complications of reflux include torticollis, opisthotonus, and paroxysmal dystonic posture (known as the Sandifer complex). We examined 17 patients now ranging in age from 9 months to 19 years (mean age 11 years) with the Brachmann-de Lange syndrome for evidence of gastroesophageal reflux and found that 13 had not only reflux, but also posturing and behavior consistent with the Sandifer complex. We propose that early recognition of gastroesophageal reflux in these patients may prevent the full picture of the Sandifer complex and allow for medical treatment rather than surgical intervention.
Identifier
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<a href="http://doi.org/10.1002/ajmg.1320470719" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320470719</a>
Rights
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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).
1993
Adolescent
Adult
American Journal Of Medical Genetics
characteristics
Child
De Lange syndrome
De Lange Syndrome/co [Complications]
De Lange Syndrome/complications
Esophagitis/co [Complications]
Esophagitis/complications/prevention & control
Esophagitis/pc [Prevention & Control]
feeding difficulties
Gastroesophageal Reflux
Gastroesophageal Reflux/co [Complications]
Gastroesophageal Reflux/complications
GERD
Humans
Infant
NET Files
Posture
Sandifer complex
Sommer A
Spasm/co [Complications]
Spasm/complications
Torticollis/co [Complications]
Torticollis/complications
Trajectory
-
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/10.1111/j.1365-2788.2009.01183.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1365-2788.2009.01183.x</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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Self-injurious behaviour in Cornelia de Lange syndrome: 2. association with environmental events
Publisher
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Journal of Intellectual Disability Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
intervention; symptoms; children; Rehabilitation; Neurology; Education & Educational Research; prevalence; Genetics & Heredity; behavioural phenotype; brachmann-delange syndrome; Cornelia de Lange syndrome; descriptive analysis; functional-analysis; individuals; Neurosciences &; phenomenology; phenotype; prader-willi syndrome; Psychiatry; self-injurious behaviour; social reinforcement; behavioral problems; De Lange syndrome; psychological intervention; environmental conditions; demand denial no contact; environment; self-injury
Creator
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Sloneem J; Arron K; Hall S; Oliver C
Description
An account of the resource
Background Self-injurious behaviour is commonly seen in Cornelia de Lange syndrome (CdLS). However, there has been limited research into the aetiology of self-injury in CdLS and whether environmental factors influence the behaviour. Methods We observed the self-injury of 27 individuals with CdLS and 17 participants who did not have CdLS matched for age, gender, level of intellectual disability and mobility. Descriptive analyses were used to determine the extent to which environmental events were associated with self-injury. Results Lag sequential analysis of the association between self-injurious behaviour and environmental events revealed no differences between the two groups in terms of either the number or degree of environmental associations. Conclusions The results suggest that the associations between the environment and self-injury in CdLS do not differ from those seen in the broader population of people with intellectual disability. By implication the social reinforcement hypothesis is equally applicable to both groups.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1365-2788.2009.01183.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2009.01183.x</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).
2009
Arron K
behavioral problems
behavioural phenotype
brachmann-delange syndrome
Children
Cornelia de Lange syndrome
De Lange syndrome
demand denial no contact
descriptive analysis
Education & Educational Research
Environment
environmental conditions
functional-analysis
Genetics & Heredity
Hall S
INDIVIDUALS
Intervention
Journal Of Intellectual Disability Research
Neurology
Neurosciences &
Oliver C
Phenomenology
Phenotype
prader-willi syndrome
Prevalence
Psychiatry
psychological intervention
Rehabilitation
self-injurious behaviour
self-injury
Sloneem J
social reinforcement
Symptoms
-
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/10.1007/s10882-012-9329-6" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s10882-012-9329-6</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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Behavior Problems in Individuals with Cornelia de Lange Syndrome: Population-Specific Validation of the Behavior Problem Inventory-01
Publisher
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Journal of Developmental and Physical Disabilities
Date
A point or period of time associated with an event in the lifecycle of the resource
2013
Subject
The topic of the resource
reliability; Rehabilitation; Intellectual disabilities; behavior; validity; prevalence; phenomenology; delange-syndrome; intellectual disabilities; Aggressive/destructive behavior; behaviors; Cornelia de Lange Syndrome; repetitive; scale; Self-injurious; self-injurious-behavior; short form; Stereotyped behavior; behavioral problems; De Lange syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Rojahn J; Barnard-Brak L; Richman D; Dotson W; Medeiros K; Wei T L; Abby L
Description
An account of the resource
The purpose of this study was to validate the Behavior Problem Inventory-01 (BPI-01; Rojahn J Autism Dev Disord 31:577-588, 2001) in a population of 179 individuals with Cornelia de Lange Syndrome (CdLS) and to extend the literature on the behavioral phenotype of individuals with CdLS. We also set out to determine the relationship between the frequency of self-injurious behavior (SIB), stereotyped behavior, and aggressive/destructive behavior topographies with the level of intellectual disability (ID). The BPI-01 among the individuals with CdLS showed a sufficient factor structure and internal consistency of each of the three assessed construct (SIB, stereotyped behavior, and aggressive/destructive behaviors). Similar to the findings in other populations with intellectual disabilities, those with severe/profound intellectual impairment exhibited significantly more frequent SIB and stereotypic behavior than those with moderate or mild intellectual impairment or average intellectual abilities while no statistically a differences were noted for aggressive behavior across levels of intellectual impairment. There is a need for uniformity of assessment tools across different study to improve our ability to compare results across different prevalence studies.
Identifier
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<a href="http://doi.org/10.1007/s10882-012-9329-6" target="_blank" rel="noreferrer noopener">10.1007/s10882-012-9329-6</a>
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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).
2013
Abby L
Aggressive/destructive behavior
Barnard-Brak L
Behavior
behavioral problems
behaviors
characteristics
Cornelia de Lange syndrome
De Lange syndrome
delange-syndrome
Dotson W
Intellectual disabilities
Journal of Developmental and Physical Disabilities
Medeiros K
Phenomenology
Prevalence
Rehabilitation
Reliability
repetitive
Richman D
Rojahn J
Scale
Self-injurious
self-injurious-behavior
short form
Stereotyped Behavior
Trajectory
Validity
Wei T L
-
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/10.1016/j.ijporl.2012.03.008" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ijporl.2012.03.008</a>
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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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Insomnia in Cornelia de Lange Syndrome
Publisher
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International Journal of Pediatric Otorhinolaryngology
Date
A point or period of time associated with an event in the lifecycle of the resource
2012
Subject
The topic of the resource
Pediatrics; Sleep; Otorhinolaryngology; melatonin; smith-magenis-syndrome; Cornelia de Lange Syndrome; Sleepiness; Insomnia; sleep disturbance; sleep disturbance/disorders; De Lange syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Rajan R; Benke J R; Kline A D; Levy H P; Kimball A; Mettel T L; Boss E F; Ishman S L
Description
An account of the resource
Objective: Up to 55% of patients with Cornelia de Lange Syndrome (CdLS) experience sleep disturbance. Prior evaluation of children without CdLS with similar intellectual disability and self-injurious behavior suggests that sleep disturbances may be related to insomnia or circadian issues. Methods: Caregivers of 31 patients (19 children) with CdLS completed a sleep history questionnaire focused on sleep patterns and evening sleep behavior to screen for signs and symptoms of insomnia and circadian rhythm disorders. Results: The mean age of participants was 14.5 years (range 0.6-37). Major difficulty in falling asleep (75% pediatric, 33% adult) and staying asleep (52% pediatric, 33% adult) was noted. Overall, time to sleep onset was 27.0 +/- 17.6 min, however in those with stated sleep onset difficulty, average time to sleep was 37.8 +/- 16.4 min (p = 0.002). The mean number of pediatric nighttime awakenings was 1.5 overall and 2.1 in those with stated sleep maintenance difficulties versus 0.7 and 1.5 respectively in adults. Children with CdLS tended to fall back asleep slower (61.8 min) than adults (14.9 min), but none of the comparisons between adult and pediatric sleep measures were significant. Greater than half of participants reported a family member with a possible circadian rhythm disorder. Conclusions: Symptoms suggestive of insomnia or circadian rhythm disorder are prevalent in this cohort of children and adults with CdLS. Adults may have less severe symptoms than children, suggesting some improvement over time although this study is underpowered for this analysis. Further studies are necessary to better characterize sleep disturbance in the CdLS population. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.ijporl.2012.03.008" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2012.03.008</a>
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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).
2012
Benke J R
Boss E F
characteristics
Cornelia de Lange syndrome
De Lange syndrome
insomnia
International Journal of Pediatric Otorhinolaryngology
Ishman S L
Kimball A
Kline A D
Levy H P
melatonin
Mettel T L
Otorhinolaryngology
Pediatrics
Rajan R
Sleep
sleep disturbance
sleep disturbance/disorders
Sleepiness
smith-magenis-syndrome
Trajectory
-
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/10.1111/j.1365-2788.2009.01179.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1365-2788.2009.01179.x</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
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology
Publisher
An entity responsible for making the resource available
Journal of Intellectual Disability Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
Rehabilitation; Neurology; Education & Educational Research; Genetics & Heredity; behavioural phenotype; brachmann-delange syndrome; Cornelia de Lange syndrome; individuals; Neurosciences &; phenotype; Psychiatry; self-injurious behaviour; mental-retardation; mutilative behavior; compulsive behaviour; intellectual disabilities; maladaptive behavior; people; prader-willi-syndrome; rating-scale; repetitive behaviour; stereotyped behaviour; behavioral problems; De Lange syndrome; trajectory; characteristics; hyperactivity; stereotyped disorders; compulsive behaviors
Creator
An entity primarily responsible for making the resource
Oliver C; Sloneem J; Hall S; Arron K
Description
An account of the resource
Background Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS. Methods A total of 54 participants with CdLS were compared with 46 individuals who were comparable on key variables including age, degree of intellectual disability and wheelchair use, using questionnaire and observational measures. Results Clinically significant self-injury was not more prevalent in the CdLS group (55.6%), nor was it different in presentation from that seen in the comparison group. Hyperactivity, stereotyped and compulsive behaviours predicted clinically significant self-injury in all participants. Hand directed, mild self-injury was more prevalent in CdLS. Conclusions The results show that clinically significant self-injury may not be part of the behavioural phenotype of CdLS but a specific body target for proto-SIB is more common.
Identifier
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<a href="http://doi.org/10.1111/j.1365-2788.2009.01179.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2009.01179.x</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).
2009
Arron K
behavioral problems
behavioural phenotype
brachmann-delange syndrome
characteristics
compulsive behaviors
compulsive behaviour
Cornelia de Lange syndrome
De Lange syndrome
Education & Educational Research
Genetics & Heredity
Hall S
hyperactivity
INDIVIDUALS
Intellectual disabilities
Journal Of Intellectual Disability Research
maladaptive behavior
mental-retardation
mutilative behavior
Neurology
Neurosciences &
Oliver C
People
Phenotype
prader-willi-syndrome
Psychiatry
rating-scale
Rehabilitation
repetitive behaviour
self-injurious behaviour
Sloneem J
stereotyped behaviour
stereotyped disorders
Trajectory
-
Dublin Core
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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/10.1192/bjp.bp.107.044370" target="_blank" rel="noreferrer noopener">http://doi.org/10.1192/bjp.bp.107.044370</a>
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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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Behavioural phenotype of Cornelia de Lange syndrome: case-control study
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The British Journal of Psychiatry
Date
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2008
Subject
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Male; Case-Control Studies; Young Adult; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Female; Child Preschool; Phenotype; Autistic Disorder/psychology; Communication Disorders/psychology; Compulsive Behavior/psychology; De Lange Syndrome/psychology; behavioral problems; De Lange syndrome; trajectory; characteristics; global behavior disorder
Creator
An entity primarily responsible for making the resource
Oliver C; Arron K; Sloneem J; Hall S
Description
An account of the resource
BACKGROUND: Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. AIMS: To delineate the behavioural phenotype of Cornelia de Lange syndrome with specific reference to autistic-spectrum disorder. METHOD: A total of 54 individuals with Cornelia de Lange syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorder, and adaptive, compulsive and disordered behaviour. RESULTS: There was no difference between the groups in global behaviour disorder. Severe autism was significantly more prevalent in the syndrome group (32.1%) than the comparison group (7.1%). In addition, the syndrome group also evidenced significantly higher levels of compulsive behaviour. CONCLUSIONS: These data suggest that autistic-spectrum disorder is part of the behavioural phenotype of Cornelia de Lange syndrome and that compulsive behaviours are evident. Future research should investigate this behavioural phenotype using contemporary diagnostic algorithms for autism with detailed examination of the phenomenology of compulsive behaviours.
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<a href="http://doi.org/10.1192/bjp.bp.107.044370" target="_blank" rel="noreferrer noopener">10.1192/bjp.bp.107.044370</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).
2008
Adolescent
Adult
Arron K
Autistic Disorder/psychology
behavioral problems
Case-Control Studies
characteristics
Child
Child Preschool
Communication Disorders/psychology
Compulsive Behavior/psychology
De Lange syndrome
De Lange Syndrome/psychology
Female
global behavior disorder
Hall S
Humans
Male
Oliver C
Phenotype
Sloneem J
Surveys And Questionnaires
The British Journal of Psychiatry
Trajectory
Young Adult
-
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/10.1352/0895-8017(2006)111%5B184:EOSCOS%5D2.0.CO;2" target="_blank" rel="noreferrer noopener">http://doi.org/10.1352/0895-8017(2006)111[184:EOSCOS]2.0.CO;2</a>
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Title
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Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome
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American Journal on Mental Retardation
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
children; Rehabilitation; communication; Education & Educational Research; brachmann-delange syndrome; functional-analysis; phenotype; assessments; evaluate aberrant behavior; mutilative behavior; skills; behavioral problems; De Lange syndrome; trajectory characteristics; self-injury; self injurious behavior
Creator
An entity primarily responsible for making the resource
Oliver C; Arron K; Hall S; Sloneem J; Forman D; McClintock K
Description
An account of the resource
Cornelia de Lange syndrome is reported to be associated with self-injurious behavior (SIB) and social avoidance. We used analog methodology to examine the effect of manipulating adult social contact on social communicative behaviors and SIB in 16 children with this syndrome. For 9 participants engagement behavior was related to levels of adult attention, and SIB showed significant variability across conditions for 3 participants. These findings indicate that SIB can be affected by environmental factors, even though it is thought to be part of the behavioral phenotype of Cornelia de Lange syndrome and suggest that individuals with this syndrome show socially motivated attention-soliciting behaviors. The implications for gene-environment interactions are discussed.
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<a href="http://doi.org/10.1352/0895-8017(2006)111%5B184:EOSCOS%5D2.0.CO;2" target="_blank" rel="noreferrer noopener">10.1352/0895-8017(2006)111[184:EOSCOS]2.0.CO;2</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).
2006
American Journal on Mental Retardation
Arron K
assessments
behavioral problems
brachmann-delange syndrome
Children
Communication
De Lange syndrome
Education & Educational Research
evaluate aberrant behavior
Forman D
functional-analysis
Hall S
McClintock K
mutilative behavior
Oliver C
Phenotype
Rehabilitation
self injurious behavior
self-injury
skills
Sloneem J
trajectory characteristics
-
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/10.1352/1944-7558-119.3.235" target="_blank" rel="noreferrer noopener">http://doi.org/10.1352/1944-7558-119.3.235</a>
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Title
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A Longitudinal Follow-Up Study of Affect in Children and Adults With Cornelia de Lange Syndrome
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American Journal on Intellectual and Developmental Disabilities
Date
A point or period of time associated with an event in the lifecycle of the resource
2014
Subject
The topic of the resource
Rehabilitation; behavior; Education & Educational Research; Cornelia de Lange syndrome; behavioral-phenotype; mental-retardation; affect; autistic; behavioral phenotypes; delange-syndrome; follow-up; fragile-x-syndrome; genetic syndromes; genotype-phenotype correlations; longitudinal; pervasive developmental disorders; spectrum disorders; williams-syndrome; behavioral problems; De Lange syndrome; Cri-du-chat; trajectory; characteristics; mood; interest; pleasure
Creator
An entity primarily responsible for making the resource
Nelson L; Moss J; Oliver C
Description
An account of the resource
Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS.
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<a href="http://doi.org/10.1352/1944-7558-119.3.235" target="_blank" rel="noreferrer noopener">10.1352/1944-7558-119.3.235</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
Affect
American Journal on Intellectual and Developmental Disabilities
autistic
Behavior
behavioral phenotypes
behavioral problems
behavioral-phenotype
characteristics
Cornelia de Lange syndrome
Cri-du-chat
De Lange syndrome
delange-syndrome
Education & Educational Research
Follow-up
fragile-x-syndrome
genetic syndromes
genotype-phenotype correlations
interest
Longitudinal
mental-retardation
Mood
Moss J
Nelson L
Oliver C
PERVASIVE DEVELOPMENTAL DISORDERS
pleasure
Rehabilitation
spectrum disorders
Trajectory
williams-syndrome
-
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/10.1111/dmcn.13361" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/dmcn.13361</a>
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Title
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Behaviour in Cornelia de Lange syndrome: a systematic review
Publisher
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Developmental Medicine and Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2017
Subject
The topic of the resource
behavioral problems; De Lange syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Mulder P A; Huisman S A; Hennekam R C; Oliver C; Van Balkom I D C; Piening S
Description
An account of the resource
AIM Careful study and accurate description of behaviour are important to understand developmental challenges for individuals with Cornelia de Lange syndrome (CdLS). Here we present a systematic review of current understanding of behaviour in CdLS. METHOD A systematic search was performed for articles published between January 1946 and December 2015 evaluating autism, self- injury, and/ or cognition in CdLS. After studyselection, 43 papers were included. The Cochrane quality criteria were adjusted to assign quality scores to the included studies. ESULTS Participants were mostly categorized in the severe/profound developmental level. Methodology and quality were very heterogeneous, as well as reporting occurrence of autism. Self- injurious behaviour was reported in 15 papers. Physical conditions were reported in 21 studies, mostly related to hearing and vision. Only nine studies mentioned details about medication. INTERPRETATION Comparison of presented results was hindered by heterogeneous assessment methods. Improving our understanding of behavioural characteristics in CdLS requires more uniform methodology. We propose a criterion standard of instruments that can ideally be used in assessment of behaviour and development. This will improve understanding of behaviour in the context of developmental level and daily functioning.
Identifier
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<a href="http://doi.org/10.1111/dmcn.13361" target="_blank" rel="noreferrer noopener">10.1111/dmcn.13361</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).
2017
behavioral problems
characteristics
De Lange syndrome
Developmental Medicine and Child Neurology
Hennekam R C
Huisman S A
Mulder P A
Oliver C
Piening S
Trajectory
Van Balkom I D C
-
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/10.1111/j.1365-2788.2005.00649.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1365-2788.2005.00649.x</a>
Dublin Core
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Title
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The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome
Publisher
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Journal of Intellectual Disability Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Adolescent Child; Child; Preschool; De Lange Syndrome/ep [Epidemiology]; Environment; Female; Humans; Male; Self-Injurious Behavior/di [Diagnosis]; Self-Injurious Behavior/ep [Epidemiology]; Self-Injurious Behavior/px [Psychology]; Severity of Illness Index; behavioral problems; De Lange syndrome; trajectory; characteristics; self-injurious behavior
Creator
An entity primarily responsible for making the resource
Moss J; Oliver C; Hall S; Arron K; Sloneem J; Petty J
Description
An account of the resource
BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD: A descriptive analysis of observational data on eight children with Cornelia de Lange syndrome aged between 4 and 14 years was carried out. The association between self-injurious behaviour and four environmental setting events and between specific environmental events and setting events was examined using established statistical methods for observational data. RESULTS: Seven out of eight of the participants showed at least one form of self-injurious behaviour that was associated with a particular setting event. The study also demonstrated that the relationship between setting events and environmental events is extremely variable across individuals. CONCLUSIONS: Self-injurious behaviour in some individuals with Cornelia de Lange syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation provides some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.
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<a href="http://doi.org/10.1111/j.1365-2788.2005.00649.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2005.00649.x</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).
2005
Adolescent Child
Arron K
behavioral problems
characteristics
Child
De Lange syndrome
De Lange Syndrome/ep [Epidemiology]
Environment
Female
Hall S
Humans
Journal Of Intellectual Disability Research
Male
Moss J
Oliver C
Petty J
Preschool
Self-Injurious behavior
Self-Injurious Behavior/di [Diagnosis]
Self-Injurious Behavior/ep [Epidemiology]
Self-Injurious Behavior/px [Psychology]
Severity Of Illness Index
Sloneem J
Trajectory
-
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/10.1007/s10803-008-0655-6" target="_blank" rel="noreferrer noopener">http://doi.org/10.1007/s10803-008-0655-6</a>
Dublin Core
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Title
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The prevalence and phenomenology of repetitive behavior in genetic syndromes
Publisher
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Journal of Autism and Developmental Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
Middle Aged; Male; Young Adult; Surveys and Questionnaires; Child; Humans; Adult; Adolescent; Prevalence; Female; Child Preschool; Phenotype; Syndrome; London; Stereotyped Behavior; Angelman Syndrome/epidemiology/psychology; Cri-du-Chat Syndrome/epidemiology/psychology; De Lange Syndrome/epidemiology/psychology; Fragile X Syndrome/epidemiology/psychology; Intellectual Disability/epidemiology/genetics/psychology; Prader-Willi Syndrome/epidemiology/psychology; behavioral problems; tone and motor problems; cri-du-chat; De Lange syndrome; trajectory; characteristics; repetitive behavior
Creator
An entity primarily responsible for making the resource
Moss J; Oliver C; Arron K; Burbidge C; Berg K
Description
An account of the resource
We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat (N = 58), Fragile X (N = 191), Prader-Willi (N = 189), Lowe (N = 56) and Smith-Magenis (N = 42) syndromes and individuals with intellectual disability of heterogeneous aetiology (N = 56). Repetitive behavior was variable across syndromes. Fragile X syndrome scored highly on all subscales. Angelman syndrome demonstrated a significantly lowered probability for most behaviors. Prader-Willi, Cri-du-Chat and Smith-Magenis syndrome evidenced unique profiles of repetitive behavior. There is extreme heterogeneity of repetitive behavior across genetic syndromes, highlighting syndrome specific profiles.
Identifier
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<a href="http://doi.org/10.1007/s10803-008-0655-6" target="_blank" rel="noreferrer noopener">10.1007/s10803-008-0655-6</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).
2009
Adolescent
Adult
Angelman Syndrome/epidemiology/psychology
Arron K
behavioral problems
Berg K
Burbidge C
characteristics
Child
Child Preschool
Cri-du-chat
Cri-du-Chat Syndrome/epidemiology/psychology
De Lange syndrome
De Lange Syndrome/epidemiology/psychology
Female
Fragile X Syndrome/epidemiology/psychology
Humans
Intellectual Disability/epidemiology/genetics/psychology
Journal of Autism and Developmental Disorders
London
Male
Middle Aged
Moss J
Oliver C
Phenotype
Prader-Willi Syndrome/epidemiology/psychology
Prevalence
repetitive behavior
Stereotyped Behavior
Surveys And Questionnaires
Syndrome
tone and motor problems
Trajectory
Young Adult
-
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>
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Title
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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
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<a href="http://doi.org/10.1002/ajmg.a.20191" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.20191</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).
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
-
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.c.31503" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.c.31503</a>
Dublin Core
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Title
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Cornelia de Lange Syndrome: Correlation of Brain MRI Findings With Behavioral Assessment
Publisher
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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
behavior; Genetics & Heredity; Cornelia de Lange syndrome; individuals; phenotype; mutations; mental-retardation; autism spectrum disorder; aberrant behavior; Aberrant Behavior; brain; Checklist; functional connectivity; hypoplasia; MRI; neuroanatomy; nipped-b; behavioral problems; De Lange syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Lal T R R; Kliewer M A; Lopes T; Rebsamen S L; O'Connor J; Grados M A; Kimball A; Clemens J; Kline A D
Description
An account of the resource
Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings. (C) 2016 Wiley Periodicals, Inc.
Identifier
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<a href="http://doi.org/10.1002/ajmg.c.31503" target="_blank" rel="noreferrer noopener">10.1002/ajmg.c.31503</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).
2016
aberrant behavior
American Journal of Medical Genetics Part C - Seminars in Medical Genetics
Autism spectrum disorder
Behavior
behavioral problems
Brain
characteristics
Checklist
Clemens J
Cornelia de Lange syndrome
De Lange syndrome
functional connectivity
Genetics & Heredity
Grados M A
hypoplasia
INDIVIDUALS
Kimball A
Kliewer M A
Kline A D
Lal T R R
Lopes T
mental-retardation
MRI
mutations
neuroanatomy
nipped-b
O'Connor J
Phenotype
Rebsamen S L
Trajectory
-
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/10.1097/00005176-200403000-00017" target="_blank" rel="noreferrer noopener">http://doi.org/10.1097/00005176-200403000-00017</a>
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Title
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Effect of baclofen on emesis and 24-hour esophageal pH in neurologically impaired children with gastroesophageal reflux disease
Publisher
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Journal of Pediatric Gastroenterology and Nutrition
Date
A point or period of time associated with an event in the lifecycle of the resource
2004
Subject
The topic of the resource
feeding difficulties; De Lange syndrome; West syndrome; pharmacologic intervention; Baclofen; emesis
Creator
An entity primarily responsible for making the resource
Kawai M; Kawahara H; Hirayama S; Yoshimura N; Ida S
Description
An account of the resource
OBJECTIVES: Gastroesophageal reflux disease (GERD) is difficult to control with medical therapy in neurologically impaired children. The gamma-aminobutyric acid type B receptor agonist baclofen was recently reported to reduce reflux in adult patients with GERD by reducing the incidence of transient lower esophageal sphincter relaxations. The current study was undertaken to investigate the effects of baclofen on GERD in neurologically impaired children. METHODS: Eight neurologically impaired children with GERD between 2 months and 16 years were studied. Baclofen (0.7 mg/kg/day) was administered orally or via nasogastric tube in three divided doses 30 minutes before meals for 7 days. The frequency of emesis on and off baclofen were recorded as a measure of clinical impact. Twenty-four-hour esophageal pH monitoring was conducted before and on the seventh day of the administration of baclofen. RESULTS: The frequency of emesis was significantly decreased (P = 0.03). The total number of acid refluxes was significantly decreased both during the entire 24-hour period (P = 0.01) and during the postprandial period (P = 0.049). The number of acid refluxes longer than 5 minutes was significantly decreased during the 24-hour period (P = 0.02). The percentage total time of esophageal pH <4.0 and esophageal acid clearance time were not significantly different during the 24-hour period or during the postprandial period. No adverse effects were observed, except for a slight reduction in muscle tone in one subject. CONCLUSIONS: In this 1-week trial, repetitive administration of baclofen reduced the frequency of emesis and the total number of acid refluxes in neurologically impaired children with GERD.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/00005176-200403000-00017" target="_blank" rel="noreferrer noopener">10.1097/00005176-200403000-00017</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).
2004
baclofen
De Lange syndrome
emesis
feeding difficulties
Hirayama S
Ida S
Journal Of Pediatric Gastroenterology And Nutrition
Kawahara H
Kawai M
pharmacologic intervention
West syndrome
Yoshimura N
-
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/10.1352/0895-8017(2002)107" target="_blank" rel="noreferrer noopener">http://doi.org/10.1352/0895-8017(2002)107<0146:SIBSRA>2.0.CO;2</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
Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome
Publisher
An entity responsible for making the resource available
American Journal of Mental Retardation
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Infant; Compulsive Behavior; De Lange Syndrome/px [Psychology]; Restraint Physical/px [Psychology]; Self-Injurious Behavior/px [Psychology]; behavioral problems; De Lange syndrome; trajectory; characteristics; self-injurious behavior; self-restraint
Creator
An entity primarily responsible for making the resource
Hyman P; Oliver C; Hall S
Description
An account of the resource
Researchers have argued that individuals who show self-restraint are more likely to show self-injurious behavior (SIB) that is compulsive. Self-injurious behavior, self-restraint, and compulsive behaviors have been described as features of Cornelia de Lange syndrome. We examined whether individuals with this syndrome displaying SIB and self-restraint exhibit more compulsive behaviors than do those without SIB and self-restraint. Main caregivers of individuals with the syndrome completed questionnaires. A significant association was found between SIB and self-restraint, and those displaying both behaviors displayed significantly more compulsions than did those not exhibiting them. Findings extend the compulsive behavior theory and highlight areas for further research.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1352/0895-8017(2002)107" target="_blank" rel="noreferrer noopener">10.1352/0895-8017(2002)107<0146:SIBSRA>2.0.CO;2</a>
Rights
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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).
2002
Adolescent
Adult
American Journal of Mental Retardation
behavioral problems
characteristics
Child
Child Preschool
Compulsive Behavior
De Lange syndrome
De Lange Syndrome/px [Psychology]
Female
Hall S
Humans
Hyman P
Infant
Male
Oliver C
Restraint Physical/px [Psychology]
Self-Injurious behavior
Self-Injurious Behavior/px [Psychology]
self-restraint
Trajectory
-
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.1320200306" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.1320200306</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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Sixty-four patients with Brachmann-de Lange syndrome: a survey
Publisher
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American Journal of Medical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
1985
Subject
The topic of the resource
Male; Surveys and Questionnaires; Child; Humans; Female; Psychomotor Performance; Birth Weight; De Lange Syndrome/etiology/genetics/physiopathology; behavioral problems; breathing difficulties; feeding difficulties; De Lange syndrome; trajectory; characteristics; respiratory tract symptoms
Creator
An entity primarily responsible for making the resource
Hawley P P; Jackson L G; Kurnit D M
Description
An account of the resource
We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange Syndrome (CDLS) Foundation, comprised of families who have a relative with BDLS. We surveyed 64 families by questionnaire and personally examined 24 of the 64. Our data suggest that lower birth weight correlates with a more severe phenotype, specifically including severe upper limb malformations and greater psychomotor retardation. The lower birth weight group showed a significant excess of females. The miscarriage rate was normal and there were no recurrences reported in the 64 families we surveyed. Major management problems included feeding problems and projectile vomiting, behavioral problems including frequent tantrums, hearing and dental difficulties, and recurrent respiratory tract infections. The oldest, teenaged subjects in our study entered puberty; although pregnancy has not been reported in the syndrome, it is likely that people with BDLS are fertile. Though most BDLS children reared at home survive through adolescence, a significant degree of psychomotor retardation and difficult medical management problems still occur.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.1320200306" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320200306</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).
1985
American Journal Of Medical Genetics
behavioral problems
Birth Weight
breathing difficulties
characteristics
Child
De Lange syndrome
De Lange Syndrome/etiology/genetics/physiopathology
feeding difficulties
Female
Hawley P P
Humans
Jackson L G
Kurnit D M
Male
Psychomotor Performance
respiratory tract symptoms
Surveys And Questionnaires
Trajectory
-
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/10.1111/j.1365-2788.2008.01047.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1365-2788.2008.01047.x</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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Health and sleep problems in Cornelia de Lange Syndrome: a case control study
Publisher
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Journal of Intellectual Disability Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Male; Severity of Illness Index; Case-Control Studies; Comorbidity; Surveys and Questionnaires; Humans; Adolescent; Prevalence; Female; Health Status; De Lange Syndrome/epidemiology/psychology; Ear Diseases/epidemiology/psychology; Eye Diseases/epidemiology/psychology; Gastrointestinal Diseases/epidemiology/psychology; Hernia/epidemiology/psychology; Intellectual Disability/epidemiology/psychology; Self-Injurious Behavior/epidemiology/psychology; Skin Diseases/epidemiology/psychology; Sleep Wake Disorders/epidemiology; Stomatognathic Diseases/epidemiology/psychology; behavioral problems; sleep disturbance; De Lange syndrome; trajectory; characteristics; self-injury
Creator
An entity primarily responsible for making the resource
Hall S; Arron K; Sloneem J; Oliver C
Description
An account of the resource
BACKGROUND: Self-injury, sleep problems and health problems are commonly reported in Cornelia de Lange Syndrome (CdLS) but there are no comparisons with appropriately matched participants. The relationship between these areas and comparison to a control group is warranted. METHOD: 54 individuals with CdLS were compared with 46 participants with intellectual disability (ID) of mixed aetiology who were similar in terms of degree of ID, mobility, age and gender using informant-based measures of health problems, sleep and self-injury. RESULTS: Participants with CdLS experienced significantly more current and lifetime health problems with eye problems and gastrointestinal disorders prominent. Although 55% of those with CdLS experienced sleep problems this prevalence was not different from the comparison group. Sleep disorder was not associated with self-injury in the CdLS group, skin problems were associated with severity of self-injury but not presence. DISCUSSION: People with CdLS experience a range of significant health problems and have more health concerns than others with the same degree of ID. Although this has been well documented in the past, the current high prevalence of health concerns indicates the need for regular health assessment and appropriate intervention.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1365-2788.2008.01047.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2008.01047.x</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).
2008
Adolescent
Arron K
behavioral problems
Case-Control Studies
characteristics
Comorbidity
De Lange syndrome
De Lange Syndrome/epidemiology/psychology
Ear Diseases/epidemiology/psychology
Eye Diseases/epidemiology/psychology
Female
Gastrointestinal Diseases/epidemiology/psychology
Hall S
Health Status
Hernia/epidemiology/psychology
Humans
Intellectual Disability/epidemiology/psychology
Journal Of Intellectual Disability Research
Male
Oliver C
Prevalence
Self-Injurious Behavior/epidemiology/psychology
self-injury
Severity Of Illness Index
Skin Diseases/epidemiology/psychology
sleep disturbance
Sleep Wake Disorders/epidemiology
Sloneem J
Stomatognathic Diseases/epidemiology/psychology
Surveys And Questionnaires
Trajectory
-
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/10.1186/1866-1955-6-10" target="_blank" rel="noreferrer noopener">http://doi.org/10.1186/1866-1955-6-10</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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Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers
Publisher
An entity responsible for making the resource available
Journal of Neurodevelopmental Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2014
Subject
The topic of the resource
Pain; Aggression; problem behavior; Neurosciences & Neurology; Tuberous sclerosis complex; functional-analysis; autism spectrum disorders; intellectual disabilities; ASD; challenging behavior; cognitive impairments; de-lange-syndrome; developmental-disabilities; early-childhood; Impulsivity; psychometric properties; Repetitive/stereotyped behaviour; Self-injury; behavioral problems; De Lange syndrome; tuberous sclerosis; trajectory; characteristics; pain behaviors; mood; low mood; hyperactivity; repetitive language use
Creator
An entity primarily responsible for making the resource
Eden K E; de Vries P J; Moss J; Richards C; Oliver C
Description
An account of the resource
Background: Research reporting prevalence rates of self-injurious and aggressive behaviour in people with tuberous sclerosis complex (TSC) is limited. No studies have compared rates of these behaviours in TSC with those in other syndrome groups matched for degree of disability or investigated risk markers for these behaviours in TSC. Methods: Data from the Challenging Behaviour Questionnaire were collected for 37 children, aged 4 to 15 years, with TSC. Odds ratios were used to compare rates of self-injury and aggression in children with TSC with children with idiopathic autism spectrum disorder (ASD), fragile X, Cornelia de Lange and Down syndromes. Characteristics were measured using the Mood Interest and Pleasure Questionnaire, the Activity Questionnaire, the Social Communication Questionnaire, the Repetitive Behaviour Questionnaire, the Wessex Behaviour Schedule and the revised Non-communicating Children Pain Checklist. Mann-Whitney U analyses were used to compare characteristics between individuals with self-injury and aggression and those not showing these behaviours. Results: Rates of self-injury and aggression in TSC were 27% and 50%, respectively. These are high but not significantly different from rates in children with Down syndrome or other syndrome groups. Both self-injury and aggression were associated with stereotyped and pain-related behaviours, low mood, hyperactivity, impulsivity and repetitive use of language. Children who engaged in self-injury also had lower levels of interest and pleasure and showed a greater degree of `insistence on sameness' than children who did not self-injure. Aggression was associated with repetitive behaviour. The majority of these associations remained significant when the association with level of adaptive functioning was controlled for. Conclusions: Behavioural profiles can be used to identify those most at risk of developing self-injury and aggression. Further research is warranted to understand the influence of such internal factors as mood, ASD symptomatology and pain on challenging behaviour in people with intellectual disability.
Identifier
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<a href="http://doi.org/10.1186/1866-1955-6-10" target="_blank" rel="noreferrer noopener">10.1186/1866-1955-6-10</a>
Rights
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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
Aggression
ASD
autism spectrum disorders
behavioral problems
challenging behavior
characteristics
cognitive impairments
De Lange syndrome
de Vries P J
de-lange-syndrome
Developmental-disabilities
early-childhood
Eden K E
functional-analysis
hyperactivity
impulsivity
Intellectual disabilities
Journal of Neurodevelopmental Disorders
low mood
Mood
Moss J
Neurosciences & Neurology
Oliver C
Pain
pain behaviors
problem behavior
psychometric properties
repetitive language use
Repetitive/stereotyped behaviour
Richards C
self-injury
Trajectory
Tuberous Sclerosis
Tuberous sclerosis complex
-
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/10.1136/adc.81.4.333" target="_blank" rel="noreferrer noopener">http://doi.org/10.1136/adc.81.4.333</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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Behavioural phenotype of Cornelia de Lange syndrome
Publisher
An entity responsible for making the resource available
Archives of Disease in Childhood
Date
A point or period of time associated with an event in the lifecycle of the resource
1999
Subject
The topic of the resource
behavior; constipation; feeding difficulties; sleep disturbance; tone and motor problems; De Lange syndrome; trajectory; characteristics; hyperactivity; self-injury; aggression
Creator
An entity primarily responsible for making the resource
Berney T P; Ireland M; Burn J
Description
An account of the resource
A postal questionnaire was used to study 49 individuals with Cornelia de Lange syndrome (including both the classical and the mild forms) to ascertain behavioural phenotype. Ages ranged from early childhood to adulthood (mean age, 10.2 years; SD, 7.8) and the degree of mental retardation from borderline (10%), through mild (8%), moderate (18%), and severe (20%) to profound (43%). A wide variety of symptoms occurred frequently, notably hyperactivity (40%), self injury (44%), daily aggression (49%), and sleep disturbance (55%). These correlated closely with the presence of an autistic like syndrome and with the degree of mental retardation. The frequency and severity of disturbance, continuing beyond childhood, is important when planning the amount and duration of support required by parents. Behaviour disturbance is common in Cornelia de Lange syndrome and becomes more frequent as mental retardation becomes more severe Typical features include hyperactivity, self injury, aggressive behaviour, and sleep disturbance Self injury was more frequent in those over 12 years age An autistic syndrome was a frequent finding, particularly in those with severe mental retardation
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/adc.81.4.333" target="_blank" rel="noreferrer noopener">10.1136/adc.81.4.333</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).
1999
Aggression
Archives of Disease in Childhood
Behavior
Berney T P
Burn J
characteristics
Constipation
De Lange syndrome
feeding difficulties
hyperactivity
Ireland M
self-injury
sleep disturbance
tone and motor problems
Trajectory
-
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/10.1111/j.1365-2788.2007.00977.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1365-2788.2007.00977.x</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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The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
Publisher
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Journal of Intellectual Disability Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
children; Syndrome; Rehabilitation; communication; Neurology; Education & Educational Research; autism; Genetics & Heredity; brachmann-delange syndrome; Neurosciences &; Psychiatry; intellectual disability; mental-retardation; intelligence; behavioural phenotypes; cognitive level; Cornelia de Lange; language-skills; nipbl; normal; self-injury; self-mutilative behavior; behavioral problems; De Lange syndrome; trajectory; characteristics; CdLS; hyperactivity; attention disorder; anxiety; compulsive disorders; self-injurious behavior; autistic-like features
Creator
An entity primarily responsible for making the resource
Basile E; Villa L; Selicorni A; Molteni M
Description
An account of the resource
Background Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods In total, 56 individuals with CdLS participated in the study. During hospitalization, their mothers received a number of questionnaires to complete. The behavioural phenotype was investigated using the following scales: Developmental Behaviour Scale Primary Carer Version; Autism Behaviour Checklist; Childhood Autism Rating Scale. Results Our participants demonstrated some behavioural characteristics that are frequently associated with CdLS (hyperactivity, attention disorder, anxiety, compulsive disorders, self-injurious behaviour and autistic-like features). Our findings demonstrate the variability of behavioural characteristics in CdLS in addition to highlighting the contribution of some variables to both the CdLS behavioural profile and the developmental trajectory of the behavioural pattern. Conclusions The behavioural characteristics identified in our sample were correlated with some clinical and functional aspects (chronological age, cognitive level and clinical phenotype). The variability of the behavioural profile in CdLS reflected the wide variability in cognitive and adaptive functioning across individuals and led us to conclude that there may be multiple behavioural phenotypes associated with the syndrome. Further comparative studies between CdLS and individuals with intellectual disability or other genetic syndromes may help to provide further understanding of the behavioural phenotype of CdLS.
Identifier
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<a href="http://doi.org/10.1111/j.1365-2788.2007.00977.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2007.00977.x</a>
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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).
2007
anxiety
attention disorder
Autism
autistic-like features
Basile E
behavioral problems
behavioural phenotypes
brachmann-delange syndrome
CdLS
characteristics
Children
cognitive level
Communication
compulsive disorders
Cornelia de Lange
De Lange syndrome
Education & Educational Research
Genetics & Heredity
hyperactivity
Intellectual Disability
Intelligence
Journal Of Intellectual Disability Research
language-skills
mental-retardation
Molteni M
Neurology
Neurosciences &
nipbl
normal
Psychiatry
Rehabilitation
Self-Injurious behavior
self-injury
self-mutilative behavior
Selicorni A
Syndrome
Trajectory
Villa L
-
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.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
A name given to the resource
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
A point or period of time associated with an event in the lifecycle of the resource
2014
Subject
The topic of the resource
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
An entity primarily responsible for making the resource
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>
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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