scholarly journals Comparison of Supervised-Learning Models and Auditory Discrimination of Infant Cries for the Early Detection of Developmental Disorders / Vergleich von Supervised-Learning Klassifikationsmodellen und menschlicher auditiver Diskriminationsfähigkeit zur Unterscheidung von Säuglingsschreien mit kongenitalen Entwicklungsstörungen

2019 ◽  
Vol 6 (1) ◽  
pp. 2-18
Author(s):  
Tanja Fuhr ◽  
Henning Reetz ◽  
Carla Wegener

Abstract Infant cry classification can be performed in two ways: computational classification of cries or auditory discrimination by human listeners. This article compares both approaches. An auditory listening experiment was performed to examine if various listener groups (naive listeners, parents, nurses/midwives and therapists) were able to distinguish auditorily between healthy and pathological cries as well as to differentiate various pathologies from each other. Listeners were trained in hearing cries of healthy infants and cries of infants suffering from cleft-lip-and-palate, hearing impairment, laryngomalacia, asphyxia and brain damage. After training, a listening experiment was performed by allocating 18 infant cries to the cry groups. Multiple supervised-learning classifications models were calculated on the base of the cries’ acoustic properties. The accuracy of the models was compared to the accuracy of the human listeners. With a Kappa value of 0.491, listeners allocated the cries to the healthy and the five pathological groups with moderate performance. With a sensitivity of 0.64 and a specificity of 0.89, listeners were able to identify that a cry is a pathological one with higher confidence than separating between the single pathologies. Generalized linear mixed models found no significant differences between the classification accuracy of the listener groups. Significant differences between the pathological cry types were found. Supervised-learning classification models performed significantly better than the human listeners in classifying infant cries. The models reached an overall Kappa value of up to 0.837.

2015 ◽  
Vol 2 (1) ◽  
pp. 4-15 ◽  
Author(s):  
Tanja Fuhr ◽  
Henning Reetz ◽  
Carla Wegener

AbstractCries of infants can be seen as an indicator for several developmental diseases. Different types of classification algorithms have been used in the past to classify infant cries of healthy infants and those with developmental diseases. To determine the ability of classification models to discriminate between healthy infant cries and various cries of infants suffering from several diseases, a literature search for infant cry classification models was performed; 9 classification models were identified that have been used for infant cry classification in the past. These classification models, as well as 3 new approaches were applied to a reference dataset containing cries of healthy infants and cries of infants suffering from laryngomalacia, cleft lip and palate, hearing impairment, asphyxia and brain damage. Classification models were evaluated according to a rating schema, considering the aspects accuracy, degree of overfitting and conformability. Results indicate that many models have issues with accuracy and conformability. However, some of the models, like C5.0 decision trees and J48 classification trees provide promising results in infant cry classification for diagnostic purpose.


2020 ◽  
pp. jmedgenet-2020-106833
Author(s):  
Valeria Morbidoni ◽  
Emanuele Agolini ◽  
Kevin C Slep ◽  
Luca Pannone ◽  
Daniela Zuccarello ◽  
...  

BackgroundDysfunction in non-motile cilia is associated with a broad spectrum of developmental disorders characterised by clinical heterogeneity. While over 100 genes have been associated with primary ciliopathies, with wide phenotypic overlap, some patients still lack a molecular diagnosis.ObjectiveTo investigate and functionally characterise the molecular cause of a malformation disorder observed in two sibling fetuses characterised by microphthalmia, cleft lip and palate, and brain anomalies.MethodsA trio-based whole exome sequencing (WES) strategy was used to identify candidate variants in the TOGARAM1 gene. In silico, in vitro and in vivo (Caenorhabditis elegans) studies were carried out to explore the impact of mutations on protein structure and function, and relevant biological processes.ResultsTOGARAM1 encodes a member of the Crescerin1 family of proteins regulating microtubule dynamics. Its orthologue in C. elegans, che-12, is expressed in a subset of sensory neurons and localises in the dendritic cilium where it is required for chemosensation. Nematode lines harbouring the corresponding missense variant in TOGARAM1 were generated by CRISPR/Cas9 technology. Although chemotaxis ability on a NaCl gradient was not affected, che-12 point mutants displayed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. Finally, in vitro analysis of microtubule polymerisation in the presence of wild-type or mutant TOG2 domain revealed a faster polymerisation associated with the mutant protein, suggesting aberrant tubulin binding.ConclusionsOur data are in favour of a causative role of TOGARAM1 variants in the pathogenesis of this novel disorder, connecting this gene with primary ciliopathy.


2018 ◽  
Vol 55 (7) ◽  
pp. 925-934 ◽  
Author(s):  
Yang Rafidah Hassan ◽  
Kwan Lok Tse ◽  
Balvinder Khambay ◽  
Ricky Wing Kit Wong ◽  
Min Gu ◽  
...  

Objective: To evaluate the severity of the dental arch relationships and the treatment outcomes of reverse headgear (RHG) in southern Chinese patients with unilateral cleft lip and palate (UCLP). Design: A retrospective study. Setting: Faculty of Dentistry, The University of Hong Kong. Patients: Thirty-eight UCLP patients with complete records. Among them, 14 were later treated with RHG (RHG group) and 24 were under review (non-RHG group) before definitive orthodontic or in conjunction with orthognathic surgery. Interventions: Study models at T1 (aged 9.4 ± 0.4 years old), prebone grafting and before any orthodontic treatment started; T2 (aged 11.3 ± 0.6 years old), after bone grafting, and RHG treatment (RHG group) or under review (non-RHG group); and T3 (aged 15.3 ± 3.2 years old), pretreatment of definitive orthodontic or in conjunction with orthognathic surgery. Main Outcome Measures: With satisfactory intra- and interexaminer agreement proven by the kappa value, the dental arch relationships of the study models at T1, T2, and T3 were assessed by a solo calibrated examiner using the GOSLON Yardstick. Results: The median GOSLON score for southern Chinese patients with UCLP at T1 was 4.0. Sixty percent of the patients were categorized as “poor” at T1. RHG significantly improved dental arch relationships from T1 to T2, and the improvement was maintained until T3 assessed by the GOSLON Yardstick. Conclusions: The dental arch relationships in southern Chinese UCLP patients at 8 to 10 years old are unfavorable. RHG treatment shows positive effects in improving the dental arch relationships in UCLP patients, as assessed by the GOSLON Yardstick.


2019 ◽  
Vol 4 (5) ◽  
pp. 878-892
Author(s):  
Joseph A. Napoli ◽  
Linda D. Vallino

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


1993 ◽  
Vol 20 (4) ◽  
pp. 733-753 ◽  
Author(s):  
Alvaro A. Figueroa ◽  
John W. Polley ◽  
Mimis Cohen

BDJ ◽  
1998 ◽  
Vol 185 (7) ◽  
pp. 320-321 ◽  
Author(s):  
Biase Di ◽  
A Markus

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