Respiratory flutter syndrome: an underrecognized cause of respiratory failure in neonates.

We report the clinical and respiratory data of three neonates with flutter of the diaphragm and intercostal muscles, presenting soon after birth with respiratory failure. The breathing pattern was dirhythmic with superimposed frequencies, one regular and slow (60/min) representing the underlying respiratory rate, the other fast (> 300/min) and limited to inspiration. Nasal continuous positive airway pressure immediately normalized the breathing pattern in one infant, and improved ventilation in the two others. Pharmacologic therapy with chlorpromazine terminated the respiratory flutter and permitted weaning of ventilatory support within a few hours. Coexistent dysphagia suggested a disorder of brainstem function, although the children were otherwise developmentally normal at 8, 10, and 26 mo old. Laryngomalacia and gastroesophageal reflux were also present. We propose that the occurrence of respiratory flutter, dysphagia, laryngomalacia, and gastroesophageal reflux in a neonate constitutes a distinct clinical entity, termed the "respiratory flutter syndrome." The diagnosis of three infants with this presentation during an 18-mo period suggests that this may be a more frequent cause of respiratory failure in newborns than previously recognized.

Quantitative neurologic assessment of ataxia-telangiectasia.

BACKGROUND: Ataxia telangiectasia (A-T) is a rare disorder with many distinctive neurologic features. Although there is substantial individual variation in the rate of progression of these features, their relationship to one another or to age has not been characterized. METHODS: We formulated and tested multiple elements that assess different neurologic functions known to be affected by A-T. The overall index was applied to 52 patients with A-T, 2 to 29 years of age. RESULTS: Seven elements items proved to be informative, and three elements were added based on face validity. In a linear regression model of individuals under 19 years of age, controlled for correlation within sibships, age accounted for 87% of the variation in the A-T Index. CONCLUSION: Despite substantial individual variability of the phenotypic elements of A-T, scores on this multidimensional index have a very high correlation with age, indicating that there is a characteristic rate of progression of the disease, although functional domains in the brain are differentially affected. The pattern of scores suggests that a severe and a mild form of A-T may be distinguished by this quantitative measure. With further development this index may become useful as an outcome measure for treatment studies and prognosis.

Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia.

OBJECTIVES: To determine whether patients with ataxia-telangiectasia exhibit oropharyngeal dysphagia with concomitant aspiration and to examine the relationships among swallowing function, age, and nutritional status. STUDY DESIGN: Seventy patients (mean age, 10.7 years; range, 1.8 to 30 years) had feeding/swallowing and nutritional evaluations. Fifty-one patients, in whom there were concerns about swallowing safety, were examined with a standardized videofluoroscopic swallow study. RESULTS: Fourteen of the 51 patients (27%) with histories suggestive of dysphagia demonstrated aspiration. Of these, silent aspiration (aspiration without a cough) occurred in 10 (71%) patients. Aspirators were significantly older than non-aspirators (mean age, 16.9 vs 10.8 years; P =.002). Advancing age was the strongest factor associated with aspiration during continuous drinking (P =.01). In patients with ataxia-telangiectasia, weight and weight/height were abnormally low at all ages and most compromised in older patients. Patients who aspirated had significantly lower mean weight (P <.002) and weight/height z scores (P <.001) than did patients who did not aspirate. CONCLUSIONS: Oropharyngeal dysphagia is common and appears to be progressive in patients with ataxia-telangiectasia. Older patients also have a higher incidence of poorer nutritional status. The relationship between dysphagia and nutritional status deserves further investigation.

Pediatric feeding/swallowing teams.

A team approach is advocated for the evaluation and management of children with impairments in deglutition. The complexity of their needs requires the coordination of evaluation and management efforts so that the impact of a child's feeding/swallowing impairment on general health, development, and overall well-being may be addressed. This article reviews the rationale supporting the use of a team approach, the organizational structures of teams, and the challenges of using a team model of service delivery to meet the needs of this population.

Ethical considerations in pediatric dysphagia.

Speech-language pathologists (SLPs) are bound by ethical codes that reflect professional and institutional commitments. When professional activities involve working with children with dysphagia and other complex medical issues, SLPs frequently must make judgments that have bioethical implications. This article reviews general ethical theories and principles, examines SLPs' ethical commitments, and presents an approach for ethical decision making and reasoning. Case studies of children with dysphagia are presented to illustrate ethical dilemmas.

Anatomy, physiology, and development of feeding.

Dysphagia in infants and children is usually only one part of a broad spectrum of complex medical, health, and developmental problems. As etiologies vary, so do prognoses. Increased survival rates of infants in recent years have been accompanied by an increased prevalence of neurologic, cardiorespiratory, and structural impairments that can affect nutritional status and feeding function. Knowledge of anatomy, physiology, and normal development of feeding skills is basic to the assessment and management of pediatric dysphagia.

Specialized studies in pediatric dysphagia.

The evaluation and management of the pediatric patient with a feeding and swallowing disorder may require the use of specialized studies to evaluate specific aspects of swallowing function; to judge the consequences of the swallowing dysfunction; and to assess factors that may be contributing to swallowing dysfunction. Instrumental assessment of swallowing function may include upper gastrointestinal studies, videofluoroscopy or videofluoroscopic swallow studies, ultrasonography, radionuclide imaging, fiberoptic endoscopy of swallowing, and cervical auscultation. Procedures that assess the consequences and/or identify factors contributing to swallowing dysfunction may include pulse oximetry, chest x-rays, laryngoscopy and/or bronchoscopy, and pulmonary function tests. The use of such specialized procedures to evaluate children with dysphagia is the focus of this article.