Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review

2020 ◽  
Vol 182 (10) ◽  
pp. 2359-2368
Author(s):  
Steffany Grondin ◽  
Avedis‐Christ Wazirian ◽  
Paloma Jorda ◽  
Donato G. Terrone ◽  
Johannie Gagnon ◽  
...  
Keyword(s):  
Systematic Review ◽  
Arrhythmogenic Cardiomyopathy ◽  
Spectrin Repeat ◽  
Missense Variants ◽  
Repeat Domain

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

2019 ◽  
Vol 35 (2) ◽  
pp. 106-110 ◽  
Author(s):  
Andrea Accogli ◽  
Judith St-Onge ◽  
Nassima Addour-Boudrahem ◽  
Joël Lafond-Lapalme ◽  
Alexandre Dionne Laporte ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cerebellar Ataxia ◽  
De Novo ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Adult Onset ◽  
Spinocerebellar Ataxias ◽  
Spectrin Repeat ◽  
Missense Variants ◽  
Pathogenic Variants

The term spinocerebellar ataxia encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and autosomal recessive spinocerebellar ataxias (ARCAs, also known as SCARs) due to biallelic variants, usually resulting in more severe and earlier-onset cerebellar ataxia. Certain ataxia genes, including SPTBN2 which encodes β-III spectrin, are responsible for both SCA and SCAR, depending on whether the pathogenic variant occurs in a monoallelic or biallelic state, respectively. Accordingly, 2 major phenotypes have been linked to SPTBN2: pathogenic heterozygous in-frame deletions and missense variants result in an adult-onset, slowly progressive ADCA (SCA5) through a dominant negative effect, whereas biallelic loss-of-function variants cause SCAR14, an allelic disorder characterized by infantile-onset cerebellar ataxia and cognitive impairment. Of note, 2 heterozygous missense variants (c.1438C>T, p.R480 W; c.1309C>G, p.R437G), both lying in the second spectrin repeat of SPTBN2, have been linked to infantile-onset cerebellar ataxia, similar to SCAR14. Here, we report a novel de novo heterozygous pathogenic missense variant (c.1310G>A) in SPTBN2 in a child with infantile-onset cerebellar ataxia and mild cognitive impairment. This variant affects the same R437 residue of the second spectrin repeat but results in a different amino acid change (p.R437Q). We review previously reported cases and discuss possible pathomechanisms responsible for the early-onset cerebellar phenotype due to disease-causing variants in the second spectrin repeat.

scholarly journals The Role of Speckle Tracking Echocardiography in the Evaluation of Common Inherited Cardiomyopathies in Children and Adolescents: A Systematic Review

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 635
Author(s):  
Dan M. Dorobantu ◽  
Curtis A. Wadey ◽  
Nurul H. Amir ◽  
A. Graham Stuart ◽  
Craig A. Williams ◽  
...  
Keyword(s):  
Systematic Review ◽  
Speckle Tracking ◽  
Circumferential Strain ◽  
Speckle Tracking Echocardiography ◽  
Radial Strain ◽  
Left Ventricular ◽  
Arrhythmogenic Cardiomyopathy ◽  
Apical Rotation ◽  
Inherited Cardiomyopathies

Speckle tracking echocardiography (STE) has gained importance in the evaluation of adult inherited cardiomyopathies, but its utility in children is not well characterized. We conducted a systematic review to evaluate the role of STE in pediatric inherited cardiomyopathies. PubMed, EMBASE, Web of Science, Scopus, CENTRAL and CINAHL databases were searched up to May 2020, for terms related to inherited cardiomyopathies and STE. Included were dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular non-compaction (LVNC) and arrhythmogenic cardiomyopathy (ACM). A total of 14 cohorts were identified, of which six were in DCM, four in HCM, three in LVNC and one in ACM. The most commonly reported STE measurements were left ventricular longitudinal strain (Sl), circumferential strain (Sc), radial strain (Sr) and rotation/torsion/twist. Sl, Sc and were abnormal in all DCM and LVNC cohorts, but not in all HCM. Apical rotation and twist/torsion were increased in HCM, and decreased in LVNC. Abnormal STE parameters were reported even in cohorts with normal non-STE systolic/diastolic measurements. STE in childhood cardiomyopathies can detect early changes which may not be associated with changes in cardiac function detectable by non-STE methods. Longitudinal and circumferential strain should be introduced in the cardiomyopathy echocardiography protocol, reflecting current practice in adults.

scholarly journals Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective

2018 ◽  
Vol 41 (5) ◽  
pp. 615-622 ◽  
Author(s):  
Kai Chen ◽  
Jiangping Song ◽  
Zhen Wang ◽  
Man Rao ◽  
Liang Chen ◽  
...  
Keyword(s):  
Primary Role ◽  
Arrhythmogenic Cardiomyopathy ◽  
Missense Variants

The effects of low-ratio n-6/n-3 PUFA on biomarkers of inflammation: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Yali Wei ◽  
Yan Meng ◽  
Na Li ◽  
Qian Wang ◽  
Liyong Chen
Keyword(s):  
Systematic Review ◽  
Fatty Acid ◽  
Polyunsaturated Fatty Acid ◽  
Meta Analysis ◽  
Chain Polyunsaturated Fatty Acid ◽  
Inflammation Markers ◽  
Pufa Supplementation ◽  
Long Chain

The purpose of the systematic review and meta-analysis was to determine if low-ratio n-6/n-3 long-chain polyunsaturated fatty acid (PUFA) supplementation affects serum inflammation markers based on current studies.

Parent Education in Studies With Nonverbal and Minimally Verbal Participants With Autism Spectrum Disorder: A Systematic Review

2020 ◽  
Vol 29 (2) ◽  
pp. 890-902
Author(s):  
Lynn Kern Koegel ◽  
Katherine M. Bryan ◽  
Pumpki Lei Su ◽  
Mohini Vaidya ◽  
Stephen Camarata
Keyword(s):  
Systematic Review ◽  
Autism Spectrum Disorder ◽  
Parent Education ◽  
Autism Spectrum ◽  
Verbal Communication ◽  
Fidelity Of Implementation ◽  
Spectrum Disorder ◽  
Education Programs ◽  
Minimally Verbal ◽  
Parent Education Programs

Purpose The purpose of this systematic review was to identify parent education procedures implemented in intervention studies focused on expressive verbal communication for nonverbal (NV) or minimally verbal (MV) children with autism spectrum disorder (ASD). Parent education has been shown to be an essential component in the habilitation of individuals with ASD. Parents of individuals with ASD who are NV or MV may particularly benefit from parent education in order to provide opportunities for communication and to support their children across the life span. Method ProQuest databases were searched between the years of 1960 and 2018 to identify articles that targeted verbal communication in MV and NV individuals with ASD. A total of 1,231 were evaluated to assess whether parent education was implemented. We found 36 studies that included a parent education component. These were reviewed with regard to (a) the number of participants and participants' ages, (b) the parent education program provided, (c) the format of the parent education, (d) the duration of the parent education, (e) the measurement of parent education, and (f) the parent fidelity of implementation scores. Results The results of this analysis showed that very few studies have included a parent education component, descriptions of the parent education programs are unclear in most studies, and few studies have scored the parents' implementation of the intervention. Conclusions Currently, there is great variability in parent education programs in regard to participant age, hours provided, fidelity of implementation, format of parent education, and type of treatment used. Suggestions are made to provide both a more comprehensive description and consistent measurement of parent education programs.

Characteristics of the Frequency-Following Response to Speech in Neonates and Potential Applicability in Clinical Practice: A Systematic Review

2020 ◽  
Vol 63 (5) ◽  
pp. 1618-1635
Author(s):  
Céline Richard ◽  
Mary Lauren Neel ◽  
Arnaud Jeanvoine ◽  
Sharon Mc Connell ◽  
Alison Gehred ◽  
...  
Keyword(s):  
Systematic Review ◽  
Cochrane Library ◽  
Neurodevelopmental Outcomes ◽  
Frequency Following Response ◽  
Ovid Medline ◽  
Published Evidence ◽  
Mesh Terms ◽  
Potential Applicability ◽  
Clinical Potential

Purpose We sought to critically analyze and evaluate published evidence regarding feasibility and clinical potential for predicting neurodevelopmental outcomes of the frequency-following responses (FFRs) to speech recordings in neonates (birth to 28 days). Method A systematic search of MeSH terms in the Cumulative Index to Nursing and Allied HealthLiterature, Embase, Google Scholar, Ovid Medline (R) and E-Pub Ahead of Print, In-Process & Other Non-Indexed Citations and Daily, Web of Science, SCOPUS, COCHRANE Library, and ClinicalTrials.gov was performed. Manual review of all items identified in the search was performed by two independent reviewers. Articles were evaluated based on the level of methodological quality and evidence according to the RTI item bank. Results Seven articles met inclusion criteria. None of the included studies reported neurodevelopmental outcomes past 3 months of age. Quality of the evidence ranged from moderate to high. Protocol variations were frequent. Conclusions Based on this systematic review, the FFR to speech can capture both temporal and spectral acoustic features in neonates. It can accurately be recorded in a fast and easy manner at the infant's bedside. However, at this time, further studies are needed to identify and validate which FFR features could be incorporated as an addition to standard evaluation of infant sound processing evaluation in subcortico-cortical networks. This review identifies the need for further research focused on identifying specific features of the neonatal FFRs, those with predictive value for early childhood outcomes to help guide targeted early speech and hearing interventions.

Treating Velopharyngeal Inadequacy Using Bilateral Buccal Flap Revision Palatoplasty

2019 ◽  
Vol 4 (5) ◽  
pp. 878-892
Author(s):  
Joseph A. Napoli ◽  
Linda D. Vallino
Keyword(s):  
Systematic Review ◽  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
A Priori ◽  
Sufficient Evidence ◽  
Obstructive Sleep ◽  
Before And After ◽  
Buccal Flap

Purpose The 2 most commonly used operations to treat velopharyngeal inadequacy (VPI) are superiorly based pharyngeal flap and sphincter pharyngoplasty, both of which may result in hyponasal speech and airway obstruction. The purpose of this article is to (a) describe the bilateral buccal flap revision palatoplasty (BBFRP) as an alternative technique to manage VPI while minimizing these risks and (b) conduct a systematic review of the evidence of BBFRP on speech and other clinical outcomes. A report comparing the speech of a child with hypernasality before and after BBFRP is presented. Method A review of databases was conducted for studies of buccal flaps to treat VPI. Using the principles of a systematic review, the articles were read, and data were abstracted for study characteristics that were developed a priori. With respect to the case report, speech and instrumental data from a child with repaired cleft lip and palate and hypernasal speech were collected and analyzed before and after surgery. Results Eight articles were included in the analysis. The results were positive, and the evidence is in favor of BBFRP in improving velopharyngeal function, while minimizing the risk of hyponasal speech and obstructive sleep apnea. Before surgery, the child's speech was characterized by moderate hypernasality, and after surgery, it was judged to be within normal limits. Conclusion Based on clinical experience and results from the systematic review, there is sufficient evidence that the buccal flap is effective in improving resonance and minimizing obstructive sleep apnea. We recommend BBFRP as another approach in selected patients to manage VPI. Supplemental Material https://doi.org/10.23641/asha.9919352

Telepractice for Adult Speech-Language Pathology Services: A Systematic Review

2020 ◽  
Vol 5 (1) ◽  
pp. 326-338 ◽  
Author(s):  
Kristen Weidner ◽  
Joneen Lowman
Keyword(s):  
Systematic Review ◽  
Primary Progressive Aphasia ◽  
Future Research ◽  
Service Delivery Model ◽  
Speech Language Pathology ◽  
Review Of The Literature ◽  
Research Designs ◽  
Assessment And Treatment ◽  
Language Pathology ◽  
Screening Assessment

Purpose We conducted a systematic review of the literature regarding adult telepractice services (screening, assessment, and treatment) from approximately 2014 to 2019. Method Thirty-one relevant studies were identified from a literature search, assessed for quality, and reported. Results Included studies illustrated feasibility, efficacy, diagnostic accuracy, and noninferiority of various speech-language pathology services across adult populations, including chronic aphasia, Parkinson's disease, dysphagia, and primary progressive aphasia. Technical aspects of the equipment and software used to deliver services were discussed. Some general themes were noted as areas for future research. Conclusion Overall, results of the review continue to support the use of telepractice as an appropriate service delivery model in speech-language pathology for adults. Strong research designs, including experimental control, across multiple well-described settings are still needed to definitively determine effectiveness of telepractice services.

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