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

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

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

Growth and nutrition in children with Ataxia telangiectasia

Background: Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases. Several factors influence nutrition in children with A-T. We hypothesised that children with A-T have progressive growth failure and that early gastrostomy tube feeding (percutaneous endoscopic gastrostomy, or PEG) is a favourable management option with good nutritional outcomes. Methods: Data were collected prospectively on weight, height and body mass index (BMI) at the national paediatric A-T clinic. Adequacy and safety of oral intake was assessed. Nutritional advice was given at each multidisciplinary review. Results: 101 children (51 girls) had 222 measurements (32 once, 32 twice, 24 thrice) between 2009 and 2016. Median (range) age was 9.3 (1.5 to 18.4) years. Mean (sd) weight, height and BMI Z-scores were respectively -1.03(1.57), -1.17 (1.18) and -0.36 (1.43). 35/101 children had weight Z-scores below -2 on at least one occasion. Weight, height and BMI Z-scores declined over time. Decline was most obvious after 8 years of age. 14/101 (13.9%) children had a PEG, with longitudinal data available for 12. In a nested case control study, there was a trend for improvement in weight in those with a PEG (p = 0.06). Conclusions: A-T patients decline in growth over time. There is an urgent need for new strategies, including an understanding of why growth falters. We suggest early proactive consideration of PEG from age 8 years onwards in order to prevent progressive growth failure

Growth in ataxia telangiectasia

BACKGROUND: Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor growth is a common problem in classic A-T. An objective of this study was to develop growth references for classic A-T. Another objective was to compare growth patterns in classic A-T and mild A-T with each other and with the general population, using the CDC growth references. A final objective was to examine the effects of chronic infection on height. RESULTS: We found that classic A-T patients were smaller overall, and suffered from height and weight faltering that continued throughout childhood and adolescence. When compared to the CDC growth references, the median heights and weights for both male and female patients eventually fell to or below the 3rd centile on the CDC charts. Height faltering was more pronounced in females. Birthweight was lower in the classic A-T group compared to mild A-T and the general population, whereas birth length was not. Finally, we investigated height and BMI faltering in relation to number of infections and found no association. CONCLUSIONS: Classic A-T appears to affect growth in utero. Although children appear to grow well in very early life, faltering begins early, and is unrelenting

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

Pediatric feeding and swallowing rehabilitation: An overview

Children with neurological disabilities frequently have problems with feeding and swallowing. Such problems have a significant impact on the health and well-being of these children and their families. The primary aims in the rehabilitation of pediatric feeding and swallowing disorders are focused on supporting growth, nutrition and hydration, the development of feeding activities, and ensuring safe swallowing with the aim of preventing choking and aspiration pneumonia. Pediatric feeding and swallowing disorders can be divided into four groups: transient, developmental, chronic or progressive. This article provides an overview of the available literature about the rehabilitation of feeding and swallowing disorders in infants and children. Principles of motor control, motor learning and neuroplasticity are discussed for the four groups of children with feeding and swallowing disorders

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

PREDICT-CP: study protocol of implementation of comprehensive surveillance to predict outcomes for school-aged children with cerebral palsy

Objectives: Cerebral palsy (CP) remains the world’s most common childhood physical disability with total annual costs of care and lost well-being of $A3.87b. The PREDICT-CP (NHMRC 1077257 Partnership Project: Comprehensive surveillance to PREDICT outcomes for school age children with CP) study will investigate the influence of brain structure, body composition, dietary intake, oropharyngeal function, habitual physical activity, musculoskeletal development (hip status, bone health) and muscle performance on motor attainment, cognition, executive function, communication, participation, quality of life and related health resource use costs. The PREDICT-CP cohort provides further follow-up at 8–12 years of two overlapping preschool-age cohorts examined from 1.5 to 5 years (NHMRC 465128 motor and brain development; NHMRC 569605 growth, nutrition and physical activity). Methods and analyses: This population-based cohort study undertakes state-wide surveillance of 245 children with CP born in Queensland (birth years 2006–2009). Children will be classified for Gross Motor Function Classification System; Manual Ability Classification System, Communication Function Classification System and Eating and Drinking Ability Classification System. Outcomes include gross motor function, musculoskeletal development (hip displacement, spasticity, muscle contracture), upper limb function, communication difficulties, oropharyngeal dysphagia, dietary intake and body composition, participation, parent-reported and child-reported quality of life and medical and allied health resource use. These detailed phenotypical data will be compared with brain macrostructure and microstructure using 3 Tesla MRI (3T MRI). Relationships between brain lesion severity and outcomes will be analysed using multilevel mixed-effects models. Ethics and dissemination: The PREDICT-CP protocol is a prospectively registered and ethically accepted study protocol. The study combines data at 1.5–5 then 8–12 years of direct clinical assessment to enable prediction of outcomes and healthcare needs essential for tailoring interventions (eg, rehabilitation, orthopaedic surgery and nutritional supplements) and the projected healthcare utilisation