1 40 2 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 A name given to the resource 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 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 February 2018 List 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. Citation List Month February 2018 List URL Address <a href="http://doi.org/10.3390/children5010001" target="_blank" rel="noreferrer">http://doi.org/10.3390/children5010001</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 Feeding Intolerance in Children with Severe Impairment of the Central Nervous System: Strategies for Treatment and Prevention Publisher An entity responsible for making the resource available Children (basel) Date A point or period of time associated with an event in the lifecycle of the resource 2017 Subject The topic of the resource autonomic dysfunction; central nervous system; central neuropathic pain; Child; Disability; Feeding intolerance; neurological impairment; Only Child; Pediatric; pediatric palliative care; retching; symptom management; visceral hyperalgesia Creator An entity primarily responsible for making the resource Hauer J Description An account of the resource Children with severe impairment of the central nervous system (CNS) experience gastrointestinal (GI) symptoms at a high rate and severity, including retching, vomiting, GI tract pain, and feeding intolerance. Commonly recognized sources of symptoms include constipation and gastroesophageal reflux disease. There is growing awareness of sources due to the impaired nervous system, including visceral hyperalgesia due to sensitization of sensory neurons in the enteric nervous system and central neuropathic pain due to alterations in the thalamus. Challenging the management of these symptoms is the lack of tests to confirm alterations in the nervous system as a cause of symptom generation, requiring empirical trials directed at such sources. It is also common to have multiple reasons for the observed symptoms, further challenging management. Recurrent emesis and GI tract pain can often be improved, though in some not completely eliminated. In some, this can progress to intractable feeding intolerance. This comprehensive review provides an evidence-based approach to care, a framework for recurrent symptoms, and language strategies when symptoms remain intractable to available interventions. This summary is intended to balance optimal management with a sensitive palliative care approach to persistent GI symptoms in children with severe impairment of the CNS. Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.3390/children5010001" target="_blank" rel="noreferrer">10.3390/children5010001</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 autonomic dysfunction Central Nervous System central neuropathic pain Child Children (Basel) Disability February 2018 List Feeding intolerance Hauer J neurological impairment Only Child Pediatric Pediatric Palliative Care retching Symptom Management visceral hyperalgesia