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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
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<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
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2011
Subject
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Cornelia de Lange Syndrome; Sleep disordered breathing; Sleepiness; Snoring; breathing difficulties; sleep disturbance; De Lange syndrome; trajectory; characteristics; sleep disordered breathing
Creator
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Stavinoha Rose C; Kline A D; Levy H P; Kimball A; Mettel T L; Ishman S L
Description
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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>
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).
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/10.1016/j.ijporl.2012.03.008" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ijporl.2012.03.008</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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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
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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>
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).
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/10.1002/ajmg.c.31503" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.c.31503</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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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
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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
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.c.31503" target="_blank" rel="noreferrer noopener">10.1002/ajmg.c.31503</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2016
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