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ABSTRACT: BACKGROUND: Pulmonary disease contributes to significant morbidity and mortality in people with ataxia telangiectasia (A-T). To determine the association between age and lung function in children and young adults with A-T and to identify factors associated with decreased lung function, pulmonary function tests were performed in 100 consecutive people with A-T. METHODS: Children and adults ranging from 6 to 29 years of age and with the diagnosis of A-T were recruited, and underwent pulmonary function tests. RESULTS: The mean forced vital capacity % predicted (FVC %) in the population was 56.6 ± 20.0. Males and females between 6 and 10 years of age had similar pulmonary function. Older females were found to have significantly lower FVCs % than both older males (P < 0.02) and younger females (P < 0.001). The use of supplemental gamma globulin was associated with significantly lower FVC %. A modest correlation was found between higher radiation-induced chromosomal breakage and lower FVC % in males. No significant change in FVC % was found in a subset of subjects (n = 25) who underwent pulmonary function testing on two or more occasions over an average of 2 years. CONCLUSION: In children and young adults with A-T, older females and people who required supplemental gamma globulin had significantly lower lung function by cross-sectional analysis. Stable lung function is possible over a 2-year period. Recognition of groups who are at higher risk for lower pulmonary function may help direct care and improve clinical outcomes in people with A-T. Pediatr Pulmonol. © 2013 Wiley Periodicals, Inc.
Pediatric Pulmonology 02/2013; · 2.53 Impact Factor
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ABSTRACT: Ataxia Telangiectasia (A-T) is a rare monogenetic neurodegenerative disease with pulmonary, nutritional, and dysphagic complications. Gastrostomy tube (GT) feedings are commonly recommended to manage these co-morbidities. In general, outcomes of GT placement in patients with progressive diseases that develop during childhood are not well characterized. The primary purposes of this study were to determine whether GT placement in patients with A-T would be tolerated and associated with caregiver satisfaction.
We completed a retrospective review of 175 patients who visited the A-T Children's Center at Johns Hopkins Hospital from 2001 through 2008, and identified 28 patients with A-T (19 males, 9 females) who underwent GT placement for non-palliative reasons. Information was obtained from medical records, interviews with primary health care providers, and 24 (83%) caregivers of patients with GT's who responded to survey requests.
Twenty-five (89%) patients tolerated GT placement and were a median of 5.0 (0.4-12.6) years post GT placement at the time of this investigation. Three (11%) patients died within one month of GT placement. In comparison to patients who tolerated GT placement, patients with early mortality were older when GT's were placed (median 24.9 vs. 12.3 years, p = 0.006) and had developed a combination of dysphagia, nutritional, and respiratory problems. Caregivers of patients tolerating GT placement reported significant improvements in mealtime satisfaction and participation in daily activities.
GT placement can be well tolerated and associated with easier mealtimes in patients with A-T when feeding tubes are placed at young ages. Patients with childhood onset of disorders with predictable progression of the disease process and impaired swallowing may benefit from early versus late placement of feeding tubes.
Orphanet Journal of Rare Diseases 01/2011; 6:23. · 5.83 Impact Factor
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ABSTRACT: Infants and children with chronic lung disease of prematurity (CLDP) are at increased risk for morbidity and mortality from respiratory viral infections. Exposure to respiratory viruses may be increased in the day care environment. The risk of respiratory morbidity from day care attendance in the CLDP population is unknown. We therefore sought to determine if day care attendance is a significant risk factor for increased respiratory morbidity and symptoms in infants and children with CLDP.
Between January 2008 and October 2009, parents of infants and children with CLDP were surveyed. Information on perinatal history, sociodemographic information, day care attendance, and indicators of respiratory morbidity, including emergency department (ED) visits, hospitalizations, systemic corticosteroid use, antibiotic use, and respiratory symptoms, was collected on children<3 years of age. Logistic regression models were constructed to examine associations between exposure to day care and respiratory morbidities.
Data were collected from 111 patients with CLDP. The average gestational age was 26.2±2.0 weeks. Day care attendance was associated with significantly higher adjusted odds for ED visits (odds ratio [OR]: 3.74 [95% confidence interval (CI): 1.41-9.91]; P<.008), systemic corticosteroid use (OR: 2.22 [CI: 1.10-4.49]; P<.026), antibiotic use (OR: 2.40 [CI: 1.08-5.30]; P<.031), and days with trouble breathing (OR: 2.72 [CI: 1.30-5.69]; P<.008). Although there was an increased OR for hospitalization (OR: 3.22 [CI: 0.97-10.72]; P<.057), this did not reach statistical significance.
We found that day care attendance is associated with increased respiratory morbidities in young children with CLDP. Physicians should consider screening for and educating caregivers about the risks of day care attendance by young children with CLDP.
PEDIATRICS 09/2010; 126(4):632-7. · 4.47 Impact Factor
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Sharon A McGrath-Morrow,
W Adam Gower,
Cynthia Rothblum-Oviatt,
Alan S Brody,
Claire Langston,
Leland L Fan, Maureen A Lefton-Greif,
Thomas O Crawford,
Michelle Troche,
John T Sandlund,
Paul G Auwaerter,
Blaine Easley,
Gerald M Loughlin,
John L Carroll,
Howard M Lederman
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ABSTRACT: SUMMARY: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A-T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A-T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well-studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A-T are also outlined.
Pediatric Pulmonology 09/2010; 45(9):847-59. · 2.53 Impact Factor
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Sharon A. McGrath-Morrow MD,
W. Adam Gower MD,
Cynthia Rothblum-Oviatt PhD,
Alan S. Brody MD,
Claire Langston MD,
Leland L. Fan MD,
Maureen A. Lefton-Greif PhD,
Thomas O. Crawford MD,
Michelle Troche PhD,
John T. Sandlund MD, [......],
Leland L. Fan, Maureen A. Lefton‐Greif,
Thomas O. Crawford,
Michelle Troche,
John T. Sandlund,
Paul G. Auwaerter,
Blaine Easley,
Gerald M. Loughlin,
John L. Carroll,
Howard M. Lederman
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ABSTRACT: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A-T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A-T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well-studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A-T are also outlined. Pediatr. Pulmonol. 2010; 45:847–859. © 2010 Wiley-Liss, Inc.
Pediatric Pulmonology 08/2010; 45(9):847 - 859. · 2.53 Impact Factor
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ABSTRACT: Serum interleukin (IL)-8 levels were measured in 50 patients with ataxia telangiectasia (A-T) and 22 without A-T. In a cross-sectional study, the geometric mean of IL-8 level was significantly higher in the patients with A-T (P <.0001). Elevated serum IL-8 levels in patients with A-T suggest that systemic inflammation may contribute to the disease phenotype.
The Journal of pediatrics 02/2010; 156(4):682-4.e1. · 4.02 Impact Factor
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ABSTRACT: We identified four patients with congenital nasal pyriform aperture stenosis (CNPAS) with feeding and respiratory difficulties. While feeding difficulties have been described in infants with other causes of nasal obstruction (e.g., choanal atresia), little attention has been focused on feeding in infants with CNPAS.
All four patients were treated with nasal steroids and nasal saline and two underwent surgical repair of the CNPAS at 2 months of age. Except for gastroesophageal reflux in one patient, upper gastrointestinal tract (UGI) contrast studies were normal in all patients. Three patients underwent bedside swallow evaluations, two of whom participated in videoflouroscopic swallow studies (VFSS) because of limited oral intake or respiratory problems during feeding. These three patients presented with intact oral-motor coordination at rest and during non-nutritive sucking, and nasal whistling, nasal congestion, or breathing difficulties/desaturations with oral feeding. On VFSS, one infant had trace aspiration with thin and thick liquids. Three patients required supplemental feeding during the first year of life. All three patients with normal brain MRIs were successful oral feeders by 16 months of age, the fourth is undergoing feeding therapy at 24 months of age.
Feeding problems are common in infants with CNPAS and supplemental feedings may be needed even after management of airway difficulties. Infants with CNPAS should undergo comprehensive feeding/swallowing evaluations which may include bedside swallow evaluations and VFSSs. The prognosis for transitioning to total oral feedings is good and related to the extent of the airway obstruction and presence of other comorbidities.
International journal of pediatric otorhinolaryngology 07/2009; 73(8):1080-4. · 0.85 Impact Factor
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ABSTRACT: Most adolescents with ataxia telangiectasia (A-T) develop progressive bulbar muscle weakness and decreased pulmonary reserve. The purpose of this study was to define the patterns of sleep and respiration during sleep, and to identify sleep-related breathing problems in subjects with A-T. To address these issues, overnight polysomnography was performed on 12 adolescents with A-T. Eleven of the 12 subjects completed overnight polysomnography. The median age was 16 years (range, 13-20 years). All subjects in the study were wheelchair-bound and the median forced vital capacity (% predicted of normal) was 44% (range, 16-82%). The mean sleep efficiency was 72.6% with a mean apnea hypopnea index (AHI) of 0.7 events/hr (range, 0-2.2). The majority of apnea/hypopneas were REM related. The mean central apnea index was 0.1 events/hr (range, 0-0.2). The mean oxygen saturation nadir was 92.7% (range, 87-96) and the mean peak end-tidal carbon dioxide ET(CO(2) ) value was 53.8 mm Hg (range, 49-60). Two of 11 subjects had ET(CO(2) ) values >or=50 mm Hg for more than 50% of total sleep time. In this study, the majority of A-T adolescents had infrequent partial or complete upper airway obstructions during sleep and minimal nighttime hypoxemia. They did, however, have decreased sleep efficiency most likely, due in part, to their underlying neurological condition. This decrease in total sleep time may underestimate hypoventilation. Based on these findings, overnight polysomnography should be considered in adolescents with A-T, particularly in those in which there is a clinical suspicion of sleep related breathing abnormalities.
Pediatric Pulmonology 07/2008; 43(7):674-9. · 2.53 Impact Factor
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ABSTRACT: This article reviews population trends and general characteristics of children with dysphagia in schools, provides an overview of dysphagia teams and the roles of the speech-language pathologist (SLP) in school and hospital settings, and describes assessment and treatment of swallowing and feeding problems in children with complex medical histories.
A review of the literature of swallowing and feeding problems in young children and population trends for children who are at risk for dysphagia was completed. Two case studies are presented to illustrate the complexities that are common to this population and to provide practical information to maximize the health and education outcomes of children with dysphagia.
SLPs in schools are increasingly evaluating and treating children with dysphagia associated with medically complex conditions. There is a rising incidence in preterm births and the survival of medically fragile children, suggesting that a greater number of children will be at risk for dysphagia in the future. Limited evidence is available to support most therapeutic interventions.
School-based SLPs are uniquely positioned to identify swallowing and feeding problems, evaluate and treat children with dysphagia, participate on dysphagia teams in the school setting, and interact with the medical team.
Language Speech and Hearing Services in Schools 05/2008; 39(2):237-48. · 1.32 Impact Factor
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ABSTRACT: Over the past decade, speech-language pathologists (SLPs) have increased their involvement in the assessment and management of infants and children with complex feeding and swallowing problems. Given the complex problems demonstrated by these infants and children that vary across a range of conditions and degrees of severity, SLPs need to increase their knowledge in all the topics covered in this issue. This article will discuss the current state of evidence-based decision making, levels of evidence for studies of treatment efficacy, ethical principles in evidence-based decision making, and ethical decision-making considerations with feeding and swallowing issues using examples of three types of populations of infants and children with complex feeding and swallowing problems.
Seminars in Speech and Language 09/2007; 28(3):232-8.
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ABSTRACT: Temporal coordination of deglutition and respiration is essential for survival because both functions share the pharynx as a common pathway. Disruptions in this interface in young infants may result in dysphagia that may lead to aspiration and injury to the developing lung. Likewise, respiratory problems may contribute to the development of swallowing problems. This article focuses on the coordination between swallowing and breathing in infants and children, aspiration during periods of postnatal lung development and airway protective mechanisms. Identification of infants and children at increased risk for oropharyngeal dysphagia and respiratory disease is critical for optimal intervention. Assessment and management considerations are described.
Seminars in Speech and Language 09/2007; 28(3):166-79.
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ABSTRACT: Over the past two decades, the definition of the STATE OF HEALTH has been expanded from a disease-based condition to one that includes the impact of the disease on an individual's ability to function. The World Health Organization identified the International Classification of Functioning, Disability, and Health (ICF) as a potential framework for coding functional status and establishing a common, standardized language to describe and study health and health-related domains. The ICF could have significant benefits for speech-language pathologists working with children with feeding and swallowing problems. In this article, the authors describe the changes in the definition of health and justification for the ICF, review population trends relevant to pediatric feeding and swallowing disorders, and summarize potential applications of the ICF.
Seminars in Speech and Language 09/2007; 28(3):161-5.
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ABSTRACT: The presence of swallowing dysfunction in children without obvious risk factors remains under appreciated. Early identification and prompt initiation of appropriate treatments are critical for reduction of morbidities associated with dysphagia.
: To describe the clinical presentations, radiologic characteristics, and long-term outcomes in children with oropharyngeal dysphagia presenting as unexplained respiratory problems. We completed a retrospective chart review of all children without known dysphagic risk factors upon presentation to Speech-Language Pathology (December 1991-April 1995) for feeding/swallowing evaluations because of refractory respiratory problems and dysphagic concerns, and who subsequently were diagnosed with dysphagia on Videofluoroscopic Swallow Study (VFSS). In August 2002, follow-up telephone interviews were conducted with caregivers of 14 children.
: We identified 19 children (mean age 1.14 years; range 0.9-5.75) with dysphagia presenting as unexplained respiratory problems. On VFSS, delayed pharyngeal swallow onset was the most common abnormal radiologic finding and always preceded penetration or tracheal aspiration. Eleven (57.9%) children aspirated. Aspiration occurred only with liquids and 100% of aspiration events were silent (i.e., no cough). Dysphagia was not a concern in 11 children at a mean age 3.2 years (range 0.7-10) and persisted in three children who were 9 years or older.
: Oropharyngeal dysphagia should be considered in the differential diagnosis of young children without known risk factors associated with swallowing dysfunction when they present with unexplained respiratory problems. Although the prognosis for resolution of dysphagic concerns is very good, it may take several years.
Pediatric Pulmonology 12/2006; 41(11):1040-8. · 2.53 Impact Factor
