Feeding Problems in Patients with Noonan Syndrome: A Narrative Review.

Area of Science:

• Pediatrics
• Genetics
• Developmental Biology

Background:

• Noonan syndrome (NS) is part of the Noonan syndrome spectrum disorders (NSSD), characterized by phenotypically related conditions.
• Feeding problems are a frequent and persistent issue in NS, impacting infants, children, and even extending beyond childhood.
• Over 50% of infants with NS experience feeding difficulties, with up to half requiring temporary tube dependence.

Purpose of the Study:

• To describe the multifaceted aspects of feeding problems in NS using a theoretical framework.
• To explore the impact of feeding problems on the quality of life for individuals with NS and their caregivers.
• To identify factors influencing the improvement and underlying mechanisms of feeding difficulties in NS.

Main Methods:

• Review and conceptualization of feeding problem aspects in NS.
• Analysis of feeding problem prevalence and progression based on existing literature.
• Identification of potential contributing factors including medical, feeding-skill, nutritional, and psychosocial aspects.

Main Results:

• Feeding problems significantly affect quality of life, especially when prolonged.
• Improvement is generally observed between ages 1 and 2, though a minority experience persistent issues.
• Children with pathogenic PTPN11 or SOS1 variants may show faster improvement in feeding problems.

Conclusions:

• The etiology of feeding problems in NS is complex, involving medical, functional, nutritional, and psychosocial factors, with many mechanisms still unclear.
• Persistent feeding problems present a significant medical challenge, particularly when combined with feeding-skill and psychosocial dysfunction.
• A multidisciplinary approach involving psychology, nutrition, medicine, speech-language pathology, and occupational therapy is crucial for effective intervention.