Application of the MicroNAPS Classification for Robin Sequence

Cory M Resnick1,2, Eliot Katz3,4, Alistair Varidel2,5

  • 1Associate Professor of Oral and Maxillofacial Surgery, Harvard Medical School, Boston, MA, USA.

Insights

Robin sequence (RS) in infants presents challenges due to varied causes. The novel MicroNAPS classification system offers a standardized approach for diagnosis and management.

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Craniofacial Anomalies

Background:

  • Robin sequence (RS) is characterized by micrognathia, glossoptosis, and upper airway obstruction (UAO), leading to feeding and growth issues.
  • The diverse etiopathogenesis and severity of RS have resulted in inconsistent literature and management strategies.
  • Existing stratification systems for RS have not achieved widespread clinical adoption.

Purpose of the Study:

  • To introduce and validate the MicroNAPS classification system for Robin sequence.
  • To provide a standardized tool for assessing RS severity and guiding clinical decisions.
  • To advocate for the adoption of MicroNAPS in clinical practice and research.

Main Methods:

  • Development of the MicroNAPS classification system, scoring five elements: micrognathia, nutrition, airway, palate, and syndrome/comorbidities.
  • Summarization of element scores into a clinical stage.
  • Testing the system's clinical relevance and predictive value in a cohort of 100 infants with RS.

Main Results:

  • The MicroNAPS system demonstrated clinical relevance in a sample of 100 infants.
  • The classification effectively predicted important management decisions and patient outcomes.
  • The system's utility was confirmed through testing at the authors' center.

Conclusions:

  • The MicroNAPS classification provides a novel, standardized approach to Robin sequence.
  • An interactive website and reference card facilitate the application of MicroNAPS.
  • Widespread adoption of MicroNAPS is recommended for consistent clinical care and research in RS.

Related Concept Videos

Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
9.9K
RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.0K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.7K