Generating Items for a Novel Bedside Dysphagia Screening Tool Post Acute Pediatric Stroke.

Bedside dysphagia assessment protocols are not well developed in acute pediatric stroke unlike adults. The objective of this study was to identify items deemed relevant and feasible by expert consensus to inform the development of a bedside dysphagia screening tool for acute pediatric stroke. A two-phase study was conducted: (1) literature review and expert consultation generated a comprehensive list of dysphagia assessment items; (2) items were formatted in an online survey asking respondents opinion of relevance to acute pediatric stroke and feasibility for bedside administration by a trained health professional. The Dillman Tailored Design approach optimized response rate. Respondents were identified using the snowball method. Speech-language pathologists with > 2 years in pediatric dysphagia were invited to complete the survey. Demographic and practice variables were compared using univariate statistics. Item relevance and feasibility were made using binary or ordinal responses, combined to derive item-content validity indices (I-CVI) to guide item reduction. Items with I-CVI > 0.78 (excellent content validity) were moved forward to tool development. Of the 71 invited respondents, 57(80.3%) responded, of which 34(59.6%) were from North America. Sixty-one items were generated of which 4(6.6%) items were rated 'to keep'. These were face symmetry (I-CVI:0.89), salivary control (I-CVI:0.95), alertness (I-CVI:0.89) and choking (I-CVI:0.84). Of all respondents, 31(54.4%) endorsed swallowing trials, of which 25(80.6%) endorsed thin liquid by teaspoon (n = 17, 68%) or open cup (n = 20, 80%). We identified candidate items for bedside dysphagia screening with excellent content validity for acute pediatric stroke patients. Next steps include assessment of the psychometric value of each item in identifying dysphagia in children in the acute stage of recovery from stroke.

Swallowing, Oral Motor, Motor Speech, and Language Impairments Following Acute Pediatric Ischemic Stroke.

BACKGROUND AND PURPOSE: Following adult stroke, dysphagia, dysarthria, and aphasia are common sequelae. Little is known about these impairments in pediatric stroke. We assessed frequencies, co-occurrence and associations of dysphagia, oral motor, motor speech, language impairment, and caregiver burden in pediatric stroke. METHODS: Consecutive acute patients from term birth-18 years, hospitalized for arterial ischemic stroke (AIS), and cerebral sinovenous thrombosis, from January 2013 to November 2018 were included. Two raters reviewed patient charts to detect documentation of in-hospital dysphagia, oral motor dysfunction, motor speech and language impairment, and caregiver burden, using a priori operational definitions for notation and assessment findings. Other variables abstracted included demographics, preexisting conditions, stroke characteristics, and discharge disposition. Impairment frequencies were obtained by univariate and bivariate analysis and associations by simple logistic regression. RESULTS: A total of 173 patients were stratified into neonates (N=67, mean age 2.9 days, 54 AIS, 15 cerebral sinovenous thrombosis) and children (N=106, mean age 6.5 years, 73 AIS, 35 cerebral sinovenous thrombosis). Derived frequencies of impairments included dysphagia (39% neonates, 41% children); oral motor (6% neonates, 41% children); motor speech (37% children); and language (31% children). Common overlapping impairments included oral motor and motor speech (24%) and dysphagia and motor speech (23%) in children. Associations were found only in children between stroke type (AIS over cerebral sinovenous thrombosis) and AIS severity (more severe deficit at presentation) for all impairments except feeding impairment alone. Caregiver burden was present in 58% patients. CONCLUSIONS: For the first time, we systematically report the frequencies and associations of dysphagia, oral motor, motor speech, and language impairment during acute presentation of pediatric stroke, ranging from 30% to 40% for each impairment. Further research is needed to determine long-term effects of these impairments and to design standardized age-specific assessment protocols for early recognition following stroke.

Feeding and swallowing impairment in children with stroke and unilateral cerebral palsy: a systematic review.

AIM: This systematic review targeted frequency estimates of dysphagia (feeding and swallowing problems), related health outcomes, and caregiver burden in children with stroke or unilateral cerebral palsy (CP). METHOD: Six electronic databases were searched from their inception to November 2017 along with a manual search of eight relevant journals. Two blinded raters assessed abstracts and full articles for eligibility. Discrepancies were resolved by consensus. Accepted articles were evaluated for quality. Data were extracted and analysed descriptively. RESULTS: Of 1660 abstracts, five met inclusion criteria, of which three focused on stroke and two unilateral CP. Across studies, operational definitions of feeding and swallowing varied. Insufficient details were provided on assessment methods and timing. Reported frequencies of dysphagia ranged from 24.2% to 88.6%. One study reported dysphagia-related health outcomes and none reported caregiver burden. INTERPRETATION: These results suggest that dysphagia is common in children with stroke and unilateral CP; however, its frequency is yet unknown as is its impact on health and caregiver burden. Availability of a standardized tool to identify dysphagia in these children accurately is a recommended first step to address this evidence gap. WHAT THIS PAPER ADDS: There is limited data on the incidence of dysphagia after childhood stroke and unilateral cerebral palsy. Available evidence shows reported dysphagia frequencies from 24.2% to 88.6%. Only one study reported on dysphagia-related health outcomes. No study reported on caregiver burden.

Screening for Dysphagia in Adult Patients with Stroke: Assessing the Accuracy of Informal Detection.

Early identification of dysphagia by screening is recommended best practice for patients admitted to hospital with acute stroke. Screening can reduce the risk of pneumonia and promote stroke recovery, yet some institutions do not utilize a formal screening protocol. This study assessed the accuracy of informal dysphagia detection prior to implementation of a formal screening protocol. We conducted a secondary analysis of data captured between 2003 and 2008 from a sample of 250 adult stroke survivors admitted to a tertiary care centre. Using a priori criteria, patient medical records were reviewed for notation about dysphagia; if present, the date/time of notation, writer's profession, and suggestion of dysphagia presence. To assess accuracy of notations indicating dysphagia presence, we used speech language pathology (SLP) assessments as the criterion reference. There were 221 patient medical records available for review. Patients were male (56%), averaged 68 years (SD = 15.0), with a mean Canadian Neurological Scale score of 8.1 (SD = 3.0). First notations of swallowing by SLP were excluded. Of the remaining 170 patients, 147 (87%) had first notations (104 by nurses; 40 by physicians) within a median of 24.3 h from admission. Accuracy of detecting dysphagia from informal notations was low, with a sensitivity of 36.7% [95% CI, 24.9, 50.1], but specificity was high (94.2% [95% CI, 86.5, 97.9]). Informal identification methods, although timely, are suboptimal in their accuracy to detect dysphagia and leave patients with stroke at risk for poor health outcomes. Given these findings, we encourage the use of psychometrically validated formal screening protocols to identify dysphagia.

Consensus-Based Evaluation of Outcome Measures in Pediatric Stroke Care: A Toolkit.

Following a pediatric stroke, outcome measures selected for monitoring functional recovery and development vary widely. We sought to develop a toolkit of outcome measures that are currently available to clinicians, possess strong psychometric properties, and are feasible for use within clinical settings. A multidisciplinary group of clinicians and scientists from the International Pediatric Stroke Organization comprehensively reviewed the quality of measures in multiple domains described in pediatric stroke populations including global performance, motor and cognitive function, language, quality of life, and behavior and adaptive functioning. The quality of each measure was evaluated using guidelines focused on responsiveness and sensitivity, reliability, validity, feasibility, and predictive utility. A total of 48 outcome measures were included and were rated by experts based on the available evidence within the literature supporting the strengths of their psychometric properties and practical use. Only three measures were found to be validated for use in pediatric stroke: the Pediatric Stroke Outcome Measure, the Pediatric Stroke Recurrence and Recovery Questionnaire, and the Pediatric Stroke Quality of Life Measure. However, multiple additional measures were deemed to have good psychometric properties and acceptable utility for assessing pediatric stroke outcomes. Strengths and weaknesses of commonly used measures including feasibility are highlighted to guide evidence-based and practicable outcome measure selection. Improving the coherence of outcome assessment will facilitate comparison of studies and enhance research and clinical care in children with stroke. Further work is urgently needed to close the gap and validate measures across all clinically significant domains in the pediatric stroke population.

Engaging clinical end users in the development of an outcome measurement protocol for paediatric communicative health systems.

Purpose: To develop a conceptual framework of the factors likely to influence clinicians' use of a new participation-focused outcome measurement protocol in a large paediatric speech-language pathology program.Method: A convenience sample of 27 end users (clinicians, managers) were recruited from Ontario, Canada's Preschool Speech and Language Program. Participants engaged in one virtual concept mapping session in groups of five to six during which they learned about the new protocol, and generated statements in response to a prompt asking them to identify factors that would influence their use of the protocol. Following all sessions, participants asynchronously sorted and rated all statements, and data were analysed using multidimensional scaling and hierarchical cluster analyses.Result: Six themes were identified: (1) response from families; (2) use of resources; (3) feasibility and clinical utility; (4) relevance and value-added for clinicians; (5) streamlining policies and guidelines; and (6) delivery, administration, and modification of tool. Response from families, feasibility and clinical utility, and use of resources received the highest importance ratings.Conclusion: Concept mapping methodology was used to engage clinicians and managers to identify the barriers to a new implementation protocol for outcome measurement. Results will support future research and implementation efforts.

The Benefit of Dysphagia Screening in Adult Patients With Stroke: A Meta-Analysis.

Background Early identification of dysphagia aims to mitigate the risk of health consequences in adults poststroke; however, the evidence from experimental trials alone is inconclusive. This meta-analysis assessed dysphagia screening benefit from both trial and observational data. Methods and Results Seven electronic databases were searched to December 2019. Unique abstracts and full articles were screened for eligibility by 2 independent blinded raters using a priori criteria and discrepancies resolved by consensus. Included studies were summarized descriptively and assessed for methodological quality using Cochrane Risk of Bias Tool. Across studies, pooled estimates of health benefit were derived for homogeneous data using Review Manger 5.3. From the yield of 8860 citations, 30 unique articles were selected: 24 observational and 6 randomized trials. Across studies, comparisons varied: no screening versus screening, late versus earlier screening, informal versus formal screening, pre- versus postscreening, and pre- versus poststroke guidelines that included screening. Pooled estimates across comparisons favored experimental groups for pneumonia odds ratio (OR), 0.57 (95% CI, 0.45-0.72), mortality OR, 0.52 (95% CI, 0.35-0.77), dependency OR, 0.54 (95% CI, 0.35-0.85), and length of stay standardized mean difference, -0.62 (95% CI, -1.05 to -0.20). Conclusions Combining evidence from experimental and observational studies derived a significant protective health benefit of dysphagia screening following adult acute stroke for pneumonia, mortality, dependency, and length of stay.

Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care.

In order to assess the effectiveness of the detection of cystic fibrosis (CF) patients by screening compared with diagnoses based on clinical manifestations, the data of the National CF Patient Registry (NCFPR) from the year 2012 (group I: children aged 6-9 years, diagnosed prior to the start of screening) were compared with the data in the NCFPR from the year 2015 (group II: children 6-9 years after the start of screening) for CF patients from the Moscow region. Homozygotes for c.1521_1523delCTT (F508del) were separately compared in both groups. The average diagnosis age, genotype, body mass index, spirometry data, pulmonary infection, medications, and presence of complications were analyzed. This study demonstrated that in the c.1521_1523delCTT (F508del) homozygote group, the patients diagnosed by screening had significant advantages over the patients born before the start of newborn screening in the diagnosis age, the number of patients with chronic Pseudomonas aeruginosa infection, the pulmonary function, and the growth in the percentiles. Newborn screening (NBS) detects nearly twice as many CF patients as the diagnostics based on clinical symptoms during the same time period. Importantly, patients will benefit from the early diagnosis of the disease and the early start of therapy.

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four groups: group 1-patients carrying c.3844T>C and severe class I or II variant in trans; group 2-3849+10kbC>T/F508del patients; group 3-F508del/F508del patients; and group 4-patients with W1282R and "mild" variant in trans. Based on the analyses, W1282R with class I or II variant in trans appears to cause at least as severe CF symptoms as F508del homozygotes as reflected in the early age of diagnosis, high sweat chloride concentration, insufficient pancreatic function, and low lung function, in contrast to 3849+10kbC-T/F508del compound heterozygotes having milder clinical phenotypes. The W1282R pathogenic variant is seemed to lead to severe disease phenotype with pancreatic insufficiency similarly to the F508del homozygous genotype.

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF), make about 80% of the population. The aim is to reveal the molecular causes of CF in ethnic Russian patients as comprehensively as possible. The analysis of most common CFTR mutations utilized for CF diagnosis in multiethnic RF population accounts for about 83% of all CF-causing mutations in 1384 ethnic Russian patients. Variants c.1521_1523delCTT (F508del), c.54-5940_273+10250del21kb (CFTRdele2,3), c.2012delT (2143delT), c.2052_2053insA (2184insA), and c.3691delT (3821delT) are most typical for CF patients of Russian origin. DNA of 154 CF patients, Russian by origin, in whom at least one mutant allele was not previously identified (164 CF alleles), was analyzed by Sanger sequencing followed by the multiplex ligase-dependent probe amplification (MLPA) method. In addition to the 29 variants identified during the previous test for common mutations, 91 pathogenic CFTR variants were also revealed: 29 missense, 19 nonsense, 14 frame shift in/del, 17 splicing, 1 in frame ins, and 11 copy number variations (CNV). Each of the 61 variants was revealed once, and 17 twice. Each of the variants c.1209G>C (E403D), c.2128A>T (K710X), c.3883delA (4015delA), and c.3884_3885insT (4016insT) were detected for three, c.1766+1G>A (1898+1G>A) and c.2834C>T (S945L) for four, c.1766+1G>C (1898+1G>C) and c.(743+1_744-1)_(1584+1_1585-1)dup (CFTRdup6b-10) for five, c.2353C>T (R785X) and c.4004T>C (L1335P) for six, c.3929G>A (W1310X) for seven, c.580-1G>T (712-1G>T for eight, and c.1240_1244delCAAAA (1365del5) for 11 unrelated patients. A comprehensive analysis of CFTR mutant alleles with sequencing followed by MLPA, allowed not only the identification of 163 of 164 unknown alleles in our patient sample, but also expansion of the mutation spectrum with novel and additional frequent variants for ethnic Russians.

Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors.

Background: The problem of vitamin D deficiency is particularly relevant for the entire territory of Russia, since most parts of the country are located above the 42nd geographical latitude and the residents are therefore at risk of vitamin D deficiency. Despite the urgency of the problem, a comprehensive study of the molecular and genetic mechanisms and exogenous factors of vitamin D deficiency in children living in various geographical areas of the Russian Federation has not been conducted. Different variants in the loci of the genes responsible for the synthesis, hydroxylation, and transport of vitamin D (such as DHCR7, CYP2R1, CYP24A1, and GC), as well as VDR gene polymorphisms may also be associated with the risk of vitamin D deficiency. The aim of this study was to analyze the influence of exogenous factors on the blood levels of 25-hydroxyvitamin D (25(OH)D) in children of three regions of the Russian Federation, as well as the relationship of blood 25(OH)D levels with polymorphic variants of cytochrome P450 genes and VDR gene. Methods: We conducted blood 25(OH)D level analysis in 333 healthy children and adolescents in three regions located in different geographical zones of the Russian Federation. We studied the polymorphic variants c.1075A>C (I359L, rs1057910, CYP2C9 * 3) and c.430C>T (R144C, rs1799853, CYP2C9 * 2) in the CYP2C9 gene, c.1334T>C (M445T, rs4986910, CYP3A4 * 3), and CYP3A4 * 1B (c.-392C>T, rs2740574) in the CYP3A4 gene, 1846G>A, (rs3892097, CYP2D6 * 4) in the CYP2D6gene, TaqI (NM_000376.2: c.1056T>C; rs731236), FokI (NM_000376.2:c.2T>C; (rs2228570), and BsmI (NM_000376.2: c.1024+283G>A; rs1544410) in the VDR gene. We also analyzed the influence of exogenous factors on the level of 25(OH)D in children of the three study regions, as well as the relationship of the level of 25(OH)D with variants CYP2C9 * 2 (c.430C>T; R144C), CYP2C9 * 3 (c,1075A>C; I359L), CYP2D6 * 4 (1846G>A), CYP3A4 * 3 (c.1334T>C), and CYP3A4 * 1B (c.-392C>T) and rs731236, rs2228570 and rs1544410 in the VDR gene. Results: We found that the blood level of 25(OH)D depended on the geographical location and the number of sunny days per year. The average blood level of 25(OH)D in adolescent boys was statistically significantly lower than in girls of this age group. The level of 25(OH)D also significantly depended on the prophylactic dose of cholecalciferol administered to the subjects. In the study, it was shown that a dose of cholecalciferol ≥1,000 IU per day can achieve a normal level of 25(OH)D in healthy children. We found no statistically significant association between single-nucleotide polymorphic variants of cytochrome P450 genes (CYP2C9 * 3, CYP3A4 * 3, CYP2C9 * 2, CYP2D6 * 4, and CYP3A4 * 1B) and blood level of 25(OH)D in the subjects. We also did not find a relationship between the TaqI, FokI, and BsmI polymorphisms of the VDR gene and serum 25(OH)D concentration. Conclusion: Exogenous factors (time of year, place of residence, and prophylactic administration of cholecalciferol), as well as endogenous factors (age and sex), play a determining role in the development of vitamin D deficiency and insufficiency; in contrast to genetic factors-polymorphic variants of the genes of xenobiotic phase 1 enzymes (CYP2C9, CYP2C19, CYP2D6, and CYP3A4) and the VDR gene-which do not play such role. This study shows the need to create a diagnostic algorithm for Vitamin D deficiency based on the age, season of the year, and prophylactic dose of cholecalciferol.