Speech, eating and saliva control in rare diseases - a database study

Area of Science:

• Oral and Maxillofacial Medicine
• Rare Diseases Research
• Speech Pathology

Background:

• Rare diseases affect oral health and oro-facial function.
• Oromotor impairment is a significant challenge in individuals with rare diseases.
• Understanding these challenges is crucial for patient care.

Purpose of the Study:

• To investigate the background and manifestations of impaired speech intelligibility, eating difficulties, and saliva control in rare diseases.
• To analyze the prevalence and correlations of these oro-facial dysfunctions.

Main Methods:

• A questionnaire and clinical examination were administered to 1703 individuals with 169 rare diseases.
• A control group of 135 healthy children was included for comparison.
• Data collected on oral health and oro-facial function.

Main Results:

• Oromotor impairment was found in 43% of individuals with rare diseases, absent in controls.
• Speech intelligibility was affected in half of the youngest children (3-6 years).
• Eating difficulties (chewing) affected ~20%, artificial nutrition was most common in young children (9.2%), and impaired saliva control was prevalent (31.2%).

Conclusions:

• Oromotor impairment and oro-facial dysfunctions are frequent in rare diseases.
• Affected intelligibility, eating difficulties, and impaired saliva control are strongly correlated with oromotor impairment.
• These findings highlight the need for targeted interventions for oro-facial functions in rare disease management.