Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/134082/1/dmcn13156_am.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/134082/2/dmcn13156.pd

Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusions</p> <p>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.</p

Translation, cultural adaptation, reliability, and validity evidence of the Feeding/Swallowing Impact Survey (FS–IS) to Brazilian Portuguese

The purpose of this study was to translate and adapt the Feeding/Swallowing Impact Survey (FS–IS) into Brazilian Portuguese and provide a validated instrument for caregivers of children with feeding/swallowing disorders. This cross-cultural study involved initial translation, synthesis of translations, back-translation, Committee of Experts, and pre-test. The sample consisted of 95 primary caregivers of children with feeding/swallowing disorders classifed by Pediatric Dysphagia Evaluation Protocol (PDEP) in mild (n=9), moderate–severe (n=40), or profound (n=46) dysphagia. Reliability and evidence of validity based on test content, response processes, internal structure and the relations to other variables were investigated. Internal consistency, test–retest, exploratory and confrmatory factor analysis were performed, in addition to the correlation with PedsQL™ Family Impact Module (PedsQLTMFIM). The pre-test participants did not report any difculties in understanding the translated version. The Brazilian Portuguese version of FS–IS (Pt–Br–FS–IS) presented Cronbach's Alpha of 0.83, Exploratory Factor Analysis verifed that the instrument would not be unifactorial (KMO=0.74 and Bartlett’s sphericity test p<0.001) and Confrmatory Factor Analysis confrmed the original model in three subscales with χ2 /df=1.23, CFI=0.92, TLI=0.90, RMSEA (90% CI) 0.049 (0.011–0.073) adjustment indexes and the ICC was excellent in all subscales and total score. The correlation with PedsQL™FIM was signifcant in the total score and subscales. This study successfully translated and cross-culturally adapted the FS–IS instrument to the Brazilian Portuguese language and the investigation of its reliability and validity evidence suggests that the Pt–Br–FS–IS is a reliable and valid tool to measure the impact of feeding/swallowing disorders on the quality of life of caregivers of afected children

Pediatric Dysphagia: The 10th Anniversary Issue

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 evidencebased 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. KEYWORDS: Dysphagia, deglutition, evidence-based, bioethics, pediatric Learning Outcomes: As a result of this activity, the reader will be able to (1) describe ethical principles and their relationship to feeding and swallowing issues in infants and young children, (2) state three rules of ethics related to clinical intervention with infants and children with complex dysphagia, and (3) describe the three components of an evidence-based clinical approach to the care of infants and young children with feeding and swallowing problems. Over the past decade, speech-language pathologists (SLPs) have increasingly found themselves involved in assessment and management of infants and children with feeding and swallowing problems. These infants and children demonstrate complex problems that vary over a wide range of conditions and degrees of severity. Feeding issues frequently are at the forefront o

Structure and Functions of Pediatric Aerodigestive Programs: A Consensus Statement

Aerodigestive programs provide coordinated interdisciplinary care to pediatric patients with complex congenital or acquired conditions affecting breathing, swallowing, and growth. Although there has been a proliferation of programs, as well as national meetings, interest groups and early research activity, there is, as of yet, no consensus definition of an aerodigestive patient, standardized structure, and functions of an aerodigestive program or a blueprint for research prioritization. The Delphi method was used by a multidisciplinary and multi-institutional panel of aerodigestive providers to obtain consensus on 4 broad content areas related to aerodigestive care: (1) definition of an aerodigestive patient, (2) essential construct and functions of an aerodigestive program, (3) identification of aerodigestive research priorities, and (4) evaluation and recognition of aerodigestive programs and future directions. After 3 iterations of survey, consensus was obtained by either a supermajority of 75% or stability in median ranking on 33 of 36 items. This included a standard definition of an aerodigestive patient, level of participation of specific pediatric disciplines in a program, essential components of the care cycle and functions of the program, feeding and swallowing assessment and therapy, procedural scope and volume, research priorities and outcome measures, certification, coding, and funding. We propose the first consensus definition of the aerodigestive care model with specific recommendations regarding associated personnel, infrastructure, research, and outcome measures. We hope that this may provide an initial framework to further standardize care, develop clinical guidelines, and improve outcomes for aerodigestive patients

Ataxia telangiectasia: a review

Abstract Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. Epidemiology The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births. Clinical description A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia. People with A-T have an increased predisposition for cancers, particularly of lymphoid origin. Pulmonary disease and problems with feeding, swallowing and nutrition are common, and there also may be dermatological and endocrine manifestations. Etiology A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress. Diagnosis The diagnosis of A-T is usually suspected by the combination of neurologic clinical features (ataxia, abnormal control of eye movement, and postural instability) with one or more of the following which may vary in their appearance: telangiectasia, frequent sinopulmonary infections and specific laboratory abnormalities (e.g. IgA deficiency, lymphopenia especially affecting T lymphocytes and increased alpha-fetoprotein levels). Because certain neurological features may arise later, a diagnosis of A-T should be carefully considered for any ataxic child with an otherwise elusive diagnosis. A diagnosis of A-T can be confirmed by the finding of an absence or deficiency of the ATM protein or its kinase activity in cultured cell lines, and/or identification of the pathological mutations in the ATM gene. Differential diagnosis There are several other neurologic and rare disorders that physicians must consider when diagnosing A-T and that can be confused with A-T. Differentiation of these various disorders is often possible with clinical features and selected laboratory tests, including gene sequencing. Antenatal diagnosis Antenatal diagnosis can be performed if the pathological ATM mutations in that family have been identified in an affected child. In the absence of identifying mutations, antenatal diagnosis can be made by haplotype analysis if an unambiguous diagnosis of the affected child has been made through clinical and laboratory findings and/or ATM protein analysis. Genetic counseling Genetic counseling can help family members of a patient with A-T understand when genetic testing for A-T is feasible, and how the test results should be interpreted. Management and prognosis Treatment of the neurologic problems associated with A-T is symptomatic and supportive, as there are no treatments known to slow or stop the neurodegeneration. However, other manifestations of A-T, e.g. immunodeficiency, pulmonary disease, failure to thrive and diabetes can be treated effectively

Inflammatory Effects of Thickened Water on the Lungs in a Murine Model of Recurrent Aspiration

ObjectiveLiquid thickeners are commonly recommended in individuals with dysphagia and recurrent aspiration as a strategy for pneumonia prevention. The goal of this study was to examine the effects of small amounts of aspirated liquid thickener on the lungs.Study designAnimal model. Prospective small animal clinical trial.MethodsAdult Sprague Dawley rats (n&nbsp;=&nbsp;19) were divided into two groups and underwent three intratracheal instillations of either xanthan gum-based nectar-thick water (0.1-0.25 mL/kg) or water-only control over the course of 8 days. Blood was collected from a peripheral vein on days 1 and 8 and submitted for complete blood count (CBC) analysis. Rats were euthanized 10 days after the last instillation, and the lungs were harvested. Histopathology was conducted on lung specimens by a blinded licensed veterinary pathologist and scored for evidence of lung injury and pneumonia.ResultsFifteen animals (8 nectar-thickener group, 7 control group) survived until the endpoint of the study (day 18). Serum CBC did not show abnormalities at any timepoint in either group. Histological evidence of lung inflammation and edema were significantly greater in the nectar-thick group compared to controls (P&nbsp;&lt; .05). Signs of inflammation included aggregates of foamy macrophages, expansion of bronchiolar lymphoid tissue, and large numbers of eosinophilic intraalveolar crystals. Histiocytic and neutrophilic pneumonia was noted in one animal that received thickened liquids.ConclusionRecurrent aspiration of small amounts of thickened water resulted in significant pulmonary inflammation in a murine model of aspiration. Results of this study support the need for further investigation of liquid thickener safety and its efficacy in reducing the pulmonary complications of swallowing disorders.Level of evidenceNA Laryngoscope, 131:1223-1228, 2021

Inflammatory Effects of Thickened Water on the Lungs in a Murine Model of Recurrent Aspiration.

ObjectiveLiquid thickeners are commonly recommended in individuals with dysphagia and recurrent aspiration as a strategy for pneumonia prevention. The goal of this study was to examine the effects of small amounts of aspirated liquid thickener on the lungs.Study designAnimal model. Prospective small animal clinical trial.MethodsAdult Sprague Dawley rats (n&nbsp;=&nbsp;19) were divided into two groups and underwent three intratracheal instillations of either xanthan gum-based nectar-thick water (0.1-0.25 mL/kg) or water-only control over the course of 8 days. Blood was collected from a peripheral vein on days 1 and 8 and submitted for complete blood count (CBC) analysis. Rats were euthanized 10 days after the last instillation, and the lungs were harvested. Histopathology was conducted on lung specimens by a blinded licensed veterinary pathologist and scored for evidence of lung injury and pneumonia.ResultsFifteen animals (8 nectar-thickener group, 7 control group) survived until the endpoint of the study (day 18). Serum CBC did not show abnormalities at any timepoint in either group. Histological evidence of lung inflammation and edema were significantly greater in the nectar-thick group compared to controls (P&nbsp;&lt; .05). Signs of inflammation included aggregates of foamy macrophages, expansion of bronchiolar lymphoid tissue, and large numbers of eosinophilic intraalveolar crystals. Histiocytic and neutrophilic pneumonia was noted in one animal that received thickened liquids.ConclusionRecurrent aspiration of small amounts of thickened water resulted in significant pulmonary inflammation in a murine model of aspiration. Results of this study support the need for further investigation of liquid thickener safety and its efficacy in reducing the pulmonary complications of swallowing disorders.Level of evidenceNA Laryngoscope, 131:1223-1228, 2021