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Query: UMLS:C0017168 (gastroesophageal reflux disease)
11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There are various identifiable diseases or conditions that can cause apparent life-threatening events (ALTE; e.g. gastroesophageal reflux (GER) and seizures). Nineteen infants with ALTE (mean age: 4.3 months) were brought to our hospital between June 1986 and August 1991. The causes of these ALTE were investigated. Analysis of laboratory data, radiological studies and esophageal function tests led to the diagnosis of GER in six of 19 infants; pertussis in five; upper respiratory infection in three; vagotonia-like condition with esophageal dysfunction in two; laryngostenosis with cerebral palsy in two; choking on food or drink in two; and epilepsy in one infant. Two cases (one case of pertussis and one of vagotonia-like condition) were associated with GER. Some of the cases demonstrate that ALTE in infants may be induced by GER or some esophageal dysmotility. Further studies of ALTE are needed to ascertain how frequently GER or esophageal dysmotility is responsible for ALTE.
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PMID:Etiology of 19 infants with apparent life-threatening events: relationship between apnea and esophageal dysfunction. 837 22

Apneic episodes, quite common in newborns, are considered rare after age 1 month, when gastroesophageal reflux, cardiac arrhythmias, idiopathic central apnea, and seizures become included in differential diagnosis. Determining the cause of apnea is important as treatment differs significantly and can be harmful; Caffeine given for presumed idiopathic central apnea is reported to have precipitated seizures in 2 patients with apneic seizures. Two cases of partial seizures presenting as apnea in infants were studied. Interictal EEG was normal in 1 and showed focal spikes in the other. Video EEG monitoring (16 channel) showed focal ictal discharge originating from temporal areas clearly preceding onset of apnea in both patients. Because therapeutic options are sometimes diametrically opposite and interictal EEGs are particularly unreliable for diagnosis, we recommend video-EEG monitoring if there is any doubt about the diagnosis before starting treatment in patients with apneic episodes.
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PMID:Partial seizures presenting as life-threatening apnea. 840 44

Seventeen infants between 3 and 37 weeks of age were sequentially admitted for investigation of apnea of infancy or apparent life-threatening events associated with suspected regurgitation. They all underwent an overnight polygraphic study, including esophageal pH monitoring. In nine infants, gastroesophageal reflux was diagnosed. In five of them, the reflux was associated with apnea. However, unassociated episodes of apnea and gastroesophageal reflux occurred (7.1 times and four times, respectively) more frequently than associated episodes. In two of the five infants, a seizure preceded both reflux and apnea and might have acted as a trigger for the apparent life-threatening events. Infants with apparent life-threatening events or apnea of infancy frequently demonstrate gastroesophageal reflux that cannot be consistently related to their events. However, when the association is demonstrated, a common epileptic convulsive etiology should be considered.
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PMID:Apnea of infancy, seizures, and gastroesophageal reflux: an important but infrequent association. 888 84

Children with cerebral palsy are at risk of developing obstructive sleep apnea, which is initially managed by medical therapy but often requires tracheostomy for stabilization of the airway. We report preoperative and postoperative polysomnographic findings in a prospective series of 18 patients with cerebral palsy and obstructive sleep apnea who were refractory to medical management and underwent aggressive surgical treatment of upper airway obstruction. Fifteen of the 18 children (83 percent) in whom tracheostomy was recommended were spared the procedure. Eighteen children with cerebral palsy failed medical management of obstructive sleep apnea and were advised to have tracheostomy. There were 9 boys and 9 girls, ranging in age from 9 months to 17 years and 6 months at the time of operation. Tonsillectomy and adenoidectomy was performed in 9 patients, turbinectomy and/or septoplasty in 9, tongue-hyoid advancement in 13, uvulopalatoplasty in 13, conventional mandibular advancement in 2, distraction osteogenesis of the mandible in 2, and tongue reduction in 7. A concomitant Wilkes-Brody procedure for drooling was performed in 6 patients. Preoperative and postoperative polysomnographic data were compared by means of a paired t test. The mean preoperative apnea index, respiratory disturbance index, and lowest oxygen saturation were 3.61, 7.02, and 73.7, respectively. Mean postoperative apnea index, respiratory disturbance index, and lowest oxygen saturation were 0.67, 1.44, and 88.2, respectively. Lowest oxygen saturation and respiratory disturbance index were both improved significantly, with p values of 0.0367 and 0.0021, respectively. Fifteen patients are tracheostomy-free (83 percent) at a mean follow-up time of 30 months (range 14 to 49 months.) Two (11 percent) of the children ultimately required tracheostomy, and one (6 percent) died from respiratory failure following the parents' decision not to proceed with further treatment. Our results confirm the efficacy of an aggressive surgical approach to the treatment of obstructive sleep apnea in neurologically compromised children. Many children and their families may potentially avoid the long-term commitment and cumulative hazards of tracheostomy. Additional strategies that have been adopted include identification and aggressive management of seizures, esophageal reflux, and excessive oral secretions and the application of mandibular distraction and skeletal expansion whenever feasible. Close postoperative monitoring is necessary with reoperation for recurrent symptoms of obstructive sleep apnea if documented by sleep study and associated with evidence of recurrent or residual morphologic abnormalities.
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PMID:Surgical treatment of obstructive sleep apnea in neurologically compromised patients. 904 81

A 15-year-old girl with a former clinical diagnosis of cerebral palsy was found to have isolated deficiency of 3-methylcrotonyl-CoA carboxylase (MCC) on gas chromatography-mass spectrometry (GC/MS) analysis and enzyme determination. Her symptoms included marked growth retardation from birth, profound mental retardation, tonic seizures, rigospastic quadriplegia with opisthotonic dystonia, gastroesophageal reflux with poor esophageal peristalsis, and recurrent episodes of aspiration pneumonia. Brain MRI revealed marked brain atrophy, involving both the gray and white matter. Although she did not exhibit acute metabolic decompensation or acute encephalopathy, her neurological symptoms continuously worsened. This patient is the oldest among reported cases of MCC deficiency who had symptoms at birth, and this case may have the severest sequelae of the longest known natural course of this inborn error of metabolism.
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PMID:Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl. 918 84

Experience over the past 10 years in the diagnosis and comprehensive management of females with Rett syndrome has given us a better understanding of the potential skills and abilities which need to be identified. This condition is unique in that after a period of early regression of development there appears to be stabilization with some improvement. The potential for these girls to achieve some functional skills and maintain them presents a challenge, but one that needs to be addressed. Medical management should include stabilization of uncontrolled seizures. Developing a comprehensive plan for feeding disorders is required so that resulting nutritional problems and constipation can be corrected. Recognition of gastroesophageal reflux and its proper management may prevent respiratory complications. Appropriate intervention strategies using different therapeutic techniques are described which have been effective in facilitating communication, maintaining hand function and ambulation, and preventing deformities. Progression of scoliosis can be managed with intensive physical therapy. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, which is best provided by a team in collaboration with community agencies that serve children with special needs and their families.
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PMID:Rett syndrome: habilitation and management reviewed. 945 32

Total laryngectomy was successfully performed for the management of repetitive lower respiratory tract infections in three cases with severe motor and intellectual disabilities syndrome. The patients were thirteen, ten and nine years of age and had cerebral palsy, mental retardation and epilepsy which resulted from neonatal asphyxia and seizures. To treat repetitive lower respiratory tract infections, the patients underwent the operation at the age of nine years and a month, seven years and six months, and six years and eleven months, respectively. Postoperatively, the respiratory tract infections were remarkably reduced for two to four years. Total laryngectomy is one of the best methods for the prevention of aspiration pneumonia, because it separates trachea and esophagus completely. The operation is indicated for children with influx of saliva into trachea and gastroesophageal reflux. The family should recognize that this operation causes permanent loss of voice and speech. The bronchoscopy, upper gastrointestinal tract barium studies and esophageal pH monitoring should be performed before the operation. Our cases fulfilled all of these indications. Laryngectomy should be considered as an effective method of respiratory management for cases of severe motor and intellectual disabilities syndrome, although its application should be carefully examined from the point of improvement of quality of life for patients.
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PMID:[Successful total laryngectomy in three cases with severe motor and intellectual disabilities syndrome for the management of repetitive lower respiratory tract infections]. 1048 66

Cerebral palsy is the result of an injury to the developing brain during the antenatal, perinatal or postnatal period. Clinical manifestations relate to the area affected. Some of the conditions associated with cerebral palsy require surgical intervention. Problems during the peri-operative period may include hypothermia, nausea and vomiting and muscle spasm. Peri-operative seizure control, respiratory function and gastro-oesophageal reflux also require consideration. Intellectual disability is common and, in those affected, may range from mild to severe. These children should be handled with sensitivity as communication disorders and sensory deficits may mask mild or normal intellect. They should be accompanied by their carers at induction and in the recovery room as they usually know how best to communicate with them. Postoperative pain management and the prevention of muscle spasm is important and some of the drugs used in the management of spasm such as baclofen and botulinum toxin are discussed. Epidural analgesia is particularly valuable when major orthopaedic procedures are performed.
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PMID:Anaesthesia and pain management in cerebral palsy. 1079 81

To study the phenotypic spectrum and management of holoprosencephaly (HPE), we reviewed the findings of eight children with HPE from 3 to 10 years of age, who underwent intervention programs and rehabilitation at our center. One patient had alobar HPE, three semilobar HPE, and four lobar HPE. All patients had postnatal growth retardation, and seven showed a decreased BMI (< 25% tile). All patients had severe developmental delay and mental retardation (DQ < 40), showing no obvious correlation between their severity and the type of HPE. Neurologically seven patients had spasticity (3 spastic quadriplegia, 2 spastic diplegia, 2 mixed-type), except one patient with a 7q deletion [46,XY,del(7) (q35)] who had generalized hypotonia. Seven had variable types of seizures. All patients had feeding difficulties and were assessed by speech-language therapists. Four patients required tube feeding, four had gastroesophageal reflux disease. Recurrent respiratory tract infection was common. Three patients had abnormal serum sodium concentration (1 diabetes insipidus, 1 idiopathic hypernatremia, 1 hyponatremia). No family history of HPE was elicited. In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.
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PMID:[Clinical spectrum and management of holoprosencephaly]. 1091 68

Gastro-oesophageal reflux (GOR) has been identified as a possible cause of SIDS. Several features of GOR unique to infants presenting with apparent life-threatening events (ALTEs) have led to its 'pathogenic' definition. One is that the life-threatening apnoea itself is initiated by GOR, another is that the ALTE relates to prolonged reflux during sleep, in a vulnerable sleep-state, and finally that the ALTE relates to excessive quantities of GOR. The presumption of GOR 'pathology' as a cause of SIDS however, is questionable in these susceptible infants for three reasons: firstly, GOR is physiological and occurs in most infants; secondly, there is no general consensus on what constitutes normal physiological reflux, and thirdly, variation in the recording technique and methods of data analysis and interpretation may account for the differences between study groups. It seems likely therefore if GOR is implicated in SIDS, additional factors are involved. Under certain circumstances, physiological GOR may trigger life-threatening apnoea in apparently healthy infants, that leads to SIDS. One mechanism that could explain such a death is reflex apnoea by stimulation of laryngeal chemoreceptors (LCR) during sleep. The conditions under which this could be fatal are the occurrence of gastric contents refluxed to the level of the pharynx during sleep, in the young infant who has depressed swallowing and arousal. That is, the occurrence of GOR to the level of the pharynx during sleep, an infrequent event that is usually innocuous, could be converted to a fatal event if swallowing is impaired and arousal depressed, by a variety of mediating factors such as prone sleeping, prematurity, sedatives, seizures or upper respiratory tract infections. The identification of LCR responses, particularly in prone sleeping and premature infants provide further evidence that this mechanism may be implicated in the aetiology of SIDS in apparently healthy infants.
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PMID:The role of gastro-oesophageal reflux in the aetiology of SIDS. 1099 49


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