Polysomnographic recordings of respiratory disturbances in Rett syndrome
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
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.
Schluter B; Aguigah G; Buschatz D; Trowitzsch E; Aksu F
Journal of Sleep Research
1995
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).
<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>
Air swallowing in Rett syndrome
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
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.
Morton R E; Pinnington L; Ellis R E
Developmental Medicine and Child Neurology
2000
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).
<a href="http://doi.org/10.1017/s0012162200000463" target="_blank" rel="noreferrer noopener">10.1017/s0012162200000463</a>
Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Middle Aged; Infant Newborn; Severity of Illness Index; Epilepsy/ge [Genetics]; Young Adult; Child; Humans; Adult; Adolescent; Child Preschool; Infant; Mutation; Epilepsy/di [Diagnosis]; Sleep Wake Disorders/di [Diagnosis]; Phenotype; Genetic Association Studies; Genotype; Rett Syndrome/ge [Genetics]; Rett Syndrome/pp [Physiopathology]; Sleep Wake Disorders/ge [Genetics]; 0 (Methyl-CpG-Binding Protein 2); Methyl-CpG-Binding Protein 2/ge [Genetics]; Rett Syndrome/di [Diagnosis]; sleep disturbance/disorders; Rett syndrome; trajectory; characteristics
Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities associated with this disorder. This study investigated the prevalence and determinants of sleep problems in Rett syndrome using an international sample. Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires were returned by 364/461 (78.9%) either in web-based or paper format. Families completed the Sleep Disturbance Scale for Children and provided information on the presence, nature, and frequency of their child's sleep problems. Multivariate multinomial regression was used to investigate the relationships between selected sleep problems, age group, and genotype and linear regression for the relationships between sleep disturbance scales and a range of covariates. Night waking was the most prevalent sleep problem affecting over 80% with nearly half (48.3%) currently waking often at night. Initiating and maintaining sleep was most disturbed for younger children and those with a p.Arg294* mutation. Severe seizure activity was associated with poor sleep after adjusting for age group, mutation type, and mobility. We were surprised to find associations between the p.Arg294* mutation and some sleep disturbances given that other aspects of its phenotype are milder. These findings highlight the complexities of aberrant MECP2 function in Rett syndrome and explain some of the variation in manifestation of sleep disturbances. © 2016 Wiley Periodicals, Inc.
Boban S; Wong K; Epstein A; Anderson B; Murphy N; Downs J; Leonard H
American Journal of Medical Genetics Part A
2016
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).
<a href="http://doi.org/10.1002/ajmg.a.37784" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37784</a>