The Human Phenotype Ontology in 2021.

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.

Bolus consistency and swallowing in children and adults.

Research has shown that swallowing in adults is affected by bolus consistency. Little is known, however, regarding the effect of bolus consistency on swallowing in children. Electromyographic (EMG) data from typically developing five- and eight-year-old-children and adults were obtained from the following muscles as they swallowed boluses of different consistencies: (1) right upper lip, (2) right lower lip, (3) submental, and (4) laryngeal strap. Signal analyses included calculating EMG onset and offset and average EMG amplitude of muscle activity during swallowing. Findings revealed that by five years of age, children employ adultlike control strategies during swallowing: significant differences in duration and magnitude of muscle activity resulted as a function of bolus consistency. General observations revealed, however, that swallowing in children is characterized by muscle activity that is shorter in duration. Similarities and differences in the biomechanics of swallowing between children and adults are important to consider during clinical evaluations and treatment of children with dysphagia.