AIMC Topic: Down Syndrome

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GEARing smart environments for pediatric motor rehabilitation.

Journal of neuroengineering and rehabilitation Feb 10, 2020
BACKGROUND: There is a lack of early (infant) mobility rehabilitation approaches that incorporate natural and complex environments and have the potential to concurrently advance motor, cognitive, and social development. The Grounded Early Adaptive Re...
Interpersonal Relations Mobility Limitation Humans Down Syndrome Developmental Disabilities Algorithms Orthotic Devices Female Motor Activity Male Infant Child, Preschool Robotics
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Improving the calling of non-invasive prenatal testing on 13-/18-/21-trisomy by support vector machine discrimination.

PloS one Dec 5, 2018
With the advance of next-generation sequencing (NGS) technologies, non-invasive prenatal testing (NIPT) has been developed and employed in fetal aneuploidy screening on 13-/18-/21-trisomies through detecting cell-free fetal DNA (cffDNA) in maternal b...
Female Young Adult Adult Diagnosis, Computer-Assisted Support Vector Machine Sequence Analysis, DNA Diagnosis, Differential Genetic Testing Humans Machine Learning Retrospective Studies Prenatal Diagnosis Pregnancy High-Throughput Nucleotide Sequencing Trisomy 13 Syndrome Trisomy 18 Syndrome Down Syndrome False Negative Reactions False Positive Reactions
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Bi-stream CNN Down Syndrome screening model based on genotyping array.

BMC medical genomics Nov 20, 2018
BACKGROUND: Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occurs about 1 per 1,000 births wo...
Chromosome Mapping Deep Learning Polymorphism, Single Nucleotide Genotype Down Syndrome Humans Neural Networks, Computer
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Evaluation of machine learning algorithms for improved risk assessment for Down's syndrome.

Computers in biology and medicine May 4, 2018
Prenatal screening generates a great amount of data that is used for predicting risk of various disorders. Prenatal risk assessment is based on multiple clinical variables and overall performance is defined by how well the risk algorithm is optimized...
Humans Neural Networks, Computer Machine Learning Risk Assessment ROC Curve Support Vector Machine Models, Statistical Algorithms Pregnancy Female Adult Down Syndrome Prenatal Diagnosis
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Two-stage approach for risk estimation of fetal trisomy 21 and other aneuploidies using computational intelligence systems.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology Mar 4, 2018
OBJECTIVE: To estimate the risk of fetal trisomy 21 (T21) and other chromosomal abnormalities (OCA) at 11-13 weeks' gestation using computational intelligence classification methods.
Prenatal Diagnosis Sensitivity and Specificity Risk Assessment Pregnancy Trimester, First Down Syndrome Humans Artificial Intelligence Pregnancy Female
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Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

BMC medical genomics Feb 13, 2018
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good ap...
Trisomy 13 Syndrome Trisomy 18 Syndrome Klinefelter Syndrome Turner Syndrome Mothers Neural Networks, Computer Down Syndrome Pregnancy Ultrasonography Female Demography Computational Biology Young Adult Prenatal Diagnosis Pregnancy Trimester, First Humans Adult Male Middle Aged Adolescent
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Automatic detection and measurement of nuchal translucency.

Computers in biology and medicine Jan 20, 2017
In this paper we propose a new methodology to support the physician both to identify automatically the nuchal region and to obtain a correct thickness measurement of the nuchal translucency. The thickness of the nuchal translucency is one of the main...
Algorithms Pattern Recognition, Automated Reproducibility of Results Down Syndrome Sensitivity and Specificity Wavelet Analysis Image Interpretation, Computer-Assisted Nuchal Translucency Measurement Humans Machine Learning
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Intelligent Noninvasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset.

IEEE journal of biomedical and health informatics Dec 22, 2016
The objective of this paper is to introduce a noninvasive diagnosis procedure for aneuploidy and to minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propos...
Ultrasonography, Prenatal Computational Biology Models, Statistical Aneuploidy Databases, Factual Biomarkers Down Syndrome Humans Pregnancy Prenatal Diagnosis Neural Networks, Computer Female Machine Learning
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Relationship between obstructive sleep apnea cardiac complications and sleepiness in children with Down syndrome.

Sleep medicine Oct 23, 2015
OBJECTIVE/BACKGROUND: Children with Down syndrome (DS) have a high rate of pulmonary hypertension and sleepiness. They also have a high prevalence of obstructive sleep apnea syndrome (OSAS). We hypothesized that OSAS was associated with cardiovascula...
Sleep Apnea, Obstructive Down Syndrome Polysomnography Continuous Positive Airway Pressure Sleep Wake Disorders Male Humans Cardiovascular Diseases Female Adolescent Young Adult Child
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Benchmarking Automatic Speech Recognition Technology for Natural Language Samples of Children With and Without Developmental Delays.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference Jul 1, 2024
Natural language sampling (NLS) offers rich insights into real-world speech and language usage across diverse groups; yet, human transcription is time-consuming and costly. Automatic speech recognition (ASR) technology has the potential to revolution...
Humans Female Automation Down Syndrome Speech Recognition Software Developmental Disabilities Male Child, Preschool Natural Language Processing Benchmarking
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