Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study
Scarlet Vatlach, Christoph Maas, Christian F Poets1
1Department of Neonatology, Tuebingen University Hospital, Calwerstr 7, Tuebingen 72076, Germany. Christian-f.poets@med.uni-tuebingen.de.
Insights
This study determined the birth prevalence of Robin sequence (RS) in Germany, finding it to be 12.4 per 100,000 live births. Non-surgical therapies like prone positioning and functional therapy were most common, with surgical interventions used infrequently.
Area of Science:
- Pediatric Epidemiology
- Rare Diseases
- Congenital Anomalies
Background:
- Robin sequence (RS) is a congenital condition characterized by micrognathia and airway obstruction.
- Understanding the birth prevalence and management of RS is crucial for early intervention and improved outcomes.
Purpose of the Study:
- To determine the birth prevalence of Robin sequence (RS) in Germany.
- To document the therapeutic approaches utilized for infants diagnosed with RS.
Main Methods:
- A monthly epidemiological survey was conducted across pediatric departments in Germany from August 2011 to July 2012.
- Infants diagnosed with RS were identified through a surveillance unit for rare pediatric diseases.
- Data on diagnosis, phenotype, and treatment were collected via questionnaires and discharge letters.
Main Results:
- A total of 82 infants with Robin sequence were included in the analysis, yielding a birth prevalence of 12.4 per 100,000 live births in Germany (based on 2011 data).
- The most common initial therapeutic approaches included prone positioning (50 infants) and functional therapy (47 infants).
- Conventional feeding plates were used in 34 infants, the preepiglottic baton plate (PEBP) in 19, and surgical interventions (mandibular traction, tracheotomy) were applied in only 5 infants.
Conclusions:
- Surgical procedures were rarely employed as initial therapy for Robin sequence in Germany compared to other studies.
- This lower utilization of surgical interventions may indicate differences in RS phenotype presentation or potential underrecognition of upper airway obstruction.
Background:
We conducted a monthly epidemiological survey to determine the birth prevalence of Robin sequence (RS) and the use of various therapeutic approaches for it.
Methods:
Between August 2011 and July 2012, every pediatric department in Germany was asked to report new admissions of infants with RS to the Surveillance Unit for Rare Pediatric Diseases in Germany. RS was defined as retro- or micrognathia and at least one of the following: clinically evident upper airway obstruction including recessions, snoring or hypoxemia; glossoptosis; feeding difficulties; failure to thrive; cleft palate or RS-associated syndrome. Hospitals reporting a case were asked to return an anonymized questionnaire and discharge letter.
Results:
Of 96 cases reported, we received detailed information on 91. Of these, 82 were included; seven were duplicates and two erroneous reports. Given 662,712 live births in Germany in 2011, the birth prevalence was 12.4 per 100,000 live births. Therapeutic approaches applied included prone positioning in 50 infants, followed by functional therapy in 47. Conventional feeding plates were used in 34 infants and the preepiglottic baton plate (PEBP) in 19. Surgical therapy such as mandibular traction was applied in 2 infants, tracheotomy in 3.
Conclusion:
Compared to other cohort studies on RS, surgical procedures were relatively rarely used as an initial therapy for RS in Germany. This may be due to differences in phenotype or an underrecognition of upper airway obstruction in these infants.
