1
40
6
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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/10.1136/adc.85.1.29" target="_blank" rel="noreferrer noopener">http://doi.org/10.1136/adc.85.1.29</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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Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
Publisher
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Archives of Disease in Childhood
Date
A point or period of time associated with an event in the lifecycle of the resource
2001
Subject
The topic of the resource
Pediatrics; hyperventilation; angiotensin-ii; autonomic system; brain stem; component; dysautonomia; immaturity; neurons; nucleus-tractus-solitarii; protein-2; real-time; reflexes; Rett disorder; vagal tone; breathing difficulties; Rett syndrome; trajectory; characteristics; abnormal respiratory rhythm
Creator
An entity primarily responsible for making the resource
Julu P O O; Kerr A M; Apartopoulos F; Al-Rawas S; Engerstrom I W; Engerstrom L; Jamal G A; Hansen S
Description
An account of the resource
Aim-To investigate breathing rhythm and brain stem autonomic control in patients with Rett disorder. Setting-Two university teaching hospitals in the United Kingdom and the Rett Centre, Sweden. Patients-56 female patients with Rett disorder, aged 2-35 years; 11 controls aged 5-28 years. Design-One hour recordings of breathing movement, blood pressure, ECG R-R interval, heart rate, transcutaneous blood gases, cardiac vagal tone, and cardiac sensitivity to baroreflex measured on-line with synchronous EEG and video. Breathing rhythms were analysed in 47 cases. Results-Respiratory rhythm was normal during sleep and abnormal in the waking state. Forced and apneustic breathing were prominent among 5-10 year olds, and Valsalva breathing in the over 18 year olds, who were also most likely to breathe normally. Inadequate breathing peaked among 10-18 year olds. Inadequate and exaggerated breathing was associated with vacant spells. Resting cardiac vagal tone and cardiac sensitivity to baroreflex were reduced. Conclusions-Labile respiratory rhythms and poor integrative inhibition in Rett disorder suggest brain immaturity. Linking this to an early monoaminergic defect suggests possible targets for the MECP2 gene in clinical intervention. Exaggerated and inadequate autonomic responses may contribute to sudden death.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/adc.85.1.29" target="_blank" rel="noreferrer noopener">10.1136/adc.85.1.29</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).
2001
abnormal respiratory rhythm
Al-Rawas S
angiotensin-ii
Apartopoulos F
Archives of Disease in Childhood
autonomic system
brain stem
breathing difficulties
characteristics
component
Dysautonomia
Engerstrom I W
Engerstrom L
Hansen S
hyperventilation
immaturity
Jamal G A
Julu P O O
Kerr A M
Neurons
nucleus-tractus-solitarii
Pediatrics
protein-2
real-time
reflexes
Rett disorder
Rett syndrome
Trajectory
vagal tone
-
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/s11689-017-9196-7" target="_blank" rel="noreferrer noopener">http://doi.org/10.1186/s11689-017-9196-7</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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Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
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
2017
Subject
The topic of the resource
Genotype; caregiver; Developmental disability; priority journal; data base; school child; autonomic dysfunction; noninvasive ventilation; oxygen; human; article; child; female; male; adult; questionnaire; Rett syndrome; breathing disorder; hyperventilation; mecp2; bloating; breath holding; Breathing disorders; breathing pattern; International database; mutation; onset age; Rare disorder; rebreathing; breathing difficulties; trajectory; characteristics; breath-holding; hyperventilation; abdominal bloating
Creator
An entity primarily responsible for making the resource
MacKay J; Downs J; Wong K; Heyworth J; Epstein A; Leonard H
Description
An account of the resource
Background: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. Methods: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing. Results: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294*mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation. Conclusions: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways. Copyright © 2017 The Author(s).
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1186/s11689-017-9196-7" target="_blank" rel="noreferrer noopener">10.1186/s11689-017-9196-7</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).
2017
abdominal bloating
Adult
Article
autonomic dysfunction
bloating
breath holding
breath-holding
breathing difficulties
breathing disorder
Breathing disorders
breathing pattern
Caregiver
characteristics
Child
Data Base
Developmental Disability
Downs J
Epstein A
Female
Genotype
Heyworth J
Human
hyperventilation
International database
Journal of Neurodevelopmental Disorders
Leonard H
MacKay J
Male
mecp2
Mutation
Noninvasive Ventilation
onset age
oxygen
Priority Journal
Questionnaire
Rare disorder
rebreathing
Rett syndrome
School Child
Trajectory
Wong K
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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
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/10.1017/s0012162200000463" target="_blank" rel="noreferrer noopener">http://doi.org/10.1017/s0012162200000463</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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Air swallowing in Rett syndrome
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
2000
Subject
The topic of the resource
Child; Humans; Adult; Adolescent; Female; Child Preschool; Risk Factors; Video Recording; Fluoroscopy; Aerophagy/di [Diagnosis]; Rett Syndrome/di [Diagnosis]; Aerophagy/pp [Physiopathology]; Aerophagy/px [Psychology]; Apnea/di [Diagnosis]; Apnea/pp [Physiopathology]; Apnea/px [Psychology]; Feeding Behavior/ph [Physiology]; Larynx/pp [Physiopathology]; Rett Syndrome/pp [Physiopathology]; Rett Syndrome/px [Psychology]; Stress Psychological/co [Complications]; feeding difficulties; Rett syndrome; physical intervention; hollow tube; gum shield; palatal training devices; air bloat; hyperventilation
Creator
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Morton R E; Pinnington L; Ellis R E
Description
An account of the resource
The possible causes of excessive swallowing of air leading to bloating, which is common in Rett syndrome (RS), were investigated during feeding and at rest. Seven individuals with RS aged between 4 and 33 years (three with air bloat) underwent feeding videoflouroscopy and concurrent respiration monitoring. The results were compared with a randomly selected group of 11 individuals, aged between 2 and 16 years, with quadriplegic cerebral palsy and feeding problems, some of whom had mild air bloat. All individuals from both groups had isolated pharyngeal swallows and several mouth breathed; this may account for some air swallowing but not the severe air bloat characteristic of RS. Thirty-three individuals with RS aged between 3 and 44 years were monitored for nasal respiration, chest movements, swallowing, and vocal cord position at rest (between feeding). Twenty had air bloat, 17 of whom swallowed air during breath-holding in the same way, and three gulped air during hyperventilation. Of the 13 without air bloat, eight did not have recurrent breath-holding and five did, but without concurrent air swallowing. Several methods for reducing air swallowing in apnoea were investigated. The most successful was a dummy with an air leak, but this was poorly tolerated and could only be used for short periods of time. Apnoeas and air bloat are often worse when individuals are distressed and may in some individuals be reduced by anxiolytic medications.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1017/s0012162200000463" target="_blank" rel="noreferrer noopener">10.1017/s0012162200000463</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).
2000
Adolescent
Adult
Aerophagy/di [Diagnosis]
Aerophagy/pp [Physiopathology]
Aerophagy/px [Psychology]
air bloat
Apnea/di [Diagnosis]
Apnea/pp [Physiopathology]
Apnea/px [Psychology]
Child
Child Preschool
Developmental Medicine and Child Neurology
Ellis R E
Feeding Behavior/ph [Physiology]
feeding difficulties
Female
Fluoroscopy
gum shield
hollow tube
Humans
hyperventilation
Larynx/pp [Physiopathology]
Morton R E
palatal training devices
physical intervention
Pinnington L
Rett syndrome
Rett Syndrome/di [Diagnosis]
Rett Syndrome/pp [Physiopathology]
Rett Syndrome/px [Psychology]
Risk Factors
Stress Psychological/co [Complications]
Video Recording
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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
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.1365-2869.1995.tb00216.x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1111/j.1365-2869.1995.tb00216.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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Polysomnographic recordings of respiratory disturbances in Rett syndrome
Publisher
An entity responsible for making the resource available
Journal of Sleep Research
Date
A point or period of time associated with an event in the lifecycle of the resource
1995
Subject
The topic of the resource
adolescent; respiratory tract disease; priority journal; school child; human; female; case report; conference paper; Disorder of respiratory control; Hyperventilation; Polygraphic recording; polysomnography; Rett syndrome; Rett syndrome/di [Diagnosis]; breathing difficulties; trajectory; characteristics; hypocapnia; apnea
Creator
An entity primarily responsible for making the resource
Schluter B; Aguigah G; Buschatz D; Trowitzsch E; Aksu F
Description
An account of the resource
Polygraphic recordings in the awake state and during sleep were performed in two girls with Rett syndrome, aged 9 y and 17 y, in order to characterize the clinically manifest breathing disorder of these patients. Primary hyperventilation was detected, leading to hypocapnia and compensatory apnoea. Hypoxaemia occurred as the consequence of prolonged apnoea. In the younger patient these disturbances were observed only in the awake state, whereas in the older patient they were found in the awake state and during sleep.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1365-2869.1995.tb00216.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2869.1995.tb00216.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).
1995
Adolescent
Aguigah G
Aksu F
apnea
breathing difficulties
Buschatz D
Case Report
characteristics
Conference Paper
Disorder of respiratory control
Female
Human
hyperventilation
hypocapnia
Journal of Sleep Research
Polygraphic recording
Polysomnography
Priority Journal
Respiratory Tract Disease
Rett syndrome
Rett Syndrome/di [Diagnosis]
Schluter B
School Child
Trajectory
Trowitzsch 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/10.1002/ppul.20866" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ppul.20866</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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Autonomic Dysregulation in Young Girls With Rett Syndrome During Nighttime in-Home Recordings
Publisher
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Pediatric Pulmonology
Date
A point or period of time associated with an event in the lifecycle of the resource
2008
Subject
The topic of the resource
Pediatrics; patterns; autonomic dysregulation; cardiorespiratory dysregulation; disorder; disturbances; dysfunction; hyperventilation; mecp2 mutations; mice; nervous-system; Respiratory System; breathing difficulties; Rett syndrome; trajectory; characteristics; irregular breathing; increased breathing frequency
Creator
An entity primarily responsible for making the resource
Weese-Mayer D E; Lieske S P; Boothby C M; Kenny A S; Bennett H L; Ramirez J M
Description
An account of the resource
This study was designed to specifically characterize the autonomic phenotype of cardiorespiratory dysregulation during the nighttime in young girls with MECP2 mutation-confirmed Rett Syndrome (RS), studied in their home environment. Computerized breath-to-breath and beat-to-beat characterization of at-home continuously recorded respiratory inductance plethysmography of chest/abdomen and ECG (VivoMetrics, Inc.) was obtained during overnight recordings in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched screened controls (ages 2-7 years). We determined that although the breathing and heart rate appear more regular during the night compared to the day, young girls with RS demonstrate apparent nocturnal irregularities. Comparing daytime versus nighttime, breathing was more irregular, with an increased breathing frequency (and irregularity), mean amplitude of respiratory inductance plethysmography sum (AMP)/T-I, and heart rate and decreased AMP in girls with RS. Comparing girls with RS versus controls during nighttime recording, breathing was more irregular, with an increased breathing frequency (and irregularity), mean AMP/T-I, and heart rate. An increased uncoupling between measures of breathing and heart rate control indicates malregulation in the autonomic nervous system, and is apparent during the day as well as the night. This uncoupling may represent a mechanism that renders the girls with RS more vulnerable to sudden death. Pediatr Pulmonol. 2008;43:1045-1060. (C) 2008 Wiley-Liss, Inc.
Identifier
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<a href="http://doi.org/10.1002/ppul.20866" target="_blank" rel="noreferrer noopener">10.1002/ppul.20866</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
autonomic dysregulation
Bennett H L
Boothby C M
breathing difficulties
cardiorespiratory dysregulation
characteristics
Disorder
disturbances
dysfunction
hyperventilation
increased breathing frequency
irregular breathing
Kenny A S
Lieske S P
mecp2 mutations
Mice
nervous-system
Patterns
Pediatric Pulmonology
Pediatrics
Ramirez J M
Respiratory System
Rett syndrome
Trajectory
Weese-Mayer D 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/10.1203/01.pdr.0000238302.84552.d0" target="_blank" rel="noreferrer noopener">http://doi.org/10.1203/01.pdr.0000238302.84552.d0</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
Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
Publisher
An entity responsible for making the resource available
Pediatric Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Pediatrics; patterns; disorder; dysfunction; hyperventilation; explanation; long qt syndrome; mecp2; mutations; sudden-death; breathing difficulties; Rett syndrome; trajectory; characteristics; irregular breathing; increased breathing frequency; increased mean airflow increased hear rate
Creator
An entity primarily responsible for making the resource
Weese-Mayer D E; Lieske S P; Boothby C M; Kenny A S; Bennett H L; Silvestri J M; Ramirez J M
Description
An account of the resource
This study characterizes cardiorespiratory dysregulation in young girls with MECP2 mutation-confirmed Rett syndrome (RS). Respiratory inductance plethysmography of chest/abdomen and ECG was obtained during daytime wakefulness in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched controls (ages 2-7 y). An in-home breath-to-breath and beat-to-beat characterization was conducted and revealed that breathing was more irregular, with an increased breathing frequency, mean airflow. and heart rate in RS versus controls. There was a decreased correlation between normal breathing and heart rate variability, and an exaggerated increase in heart rate response to breathholds in RS versus controls. We conclude that girls with RS have cardiorespiratory dysregulation during breathholds as well as during "normal" breaths and during breaths before and subsequent to breathholds. This dysregulation may offer insight into the mechanisms that render girls With RS more vulnerable to sudden death.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1203/01.pdr.0000238302.84552.d0" target="_blank" rel="noreferrer noopener">10.1203/01.pdr.0000238302.84552.d0</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).
2006
Bennett H L
Boothby C M
breathing difficulties
characteristics
Disorder
dysfunction
explanation
hyperventilation
increased breathing frequency
increased mean airflow increased hear rate
irregular breathing
Kenny A S
Lieske S P
long qt syndrome
mecp2
mutations
Patterns
Pediatric Research
Pediatrics
Ramirez J M
Rett syndrome
Silvestri J M
sudden-death
Trajectory
Weese-Mayer D E