Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease.

Sforza, E., Margiotta, G., Giorgio, V., Limongelli, D., Proli, F., Kuczynska, E., Leoni, C., De Rose, C., Trevisan, V., Romeo, D. M., Calandrelli, R., De Corso, E., Massimi, L., Palmacci, O., Rigante, D., Zampino, G., Onesimo, R., What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review, <<GENES>>, 2023; 2023 (14(1): 199): 1-12. [doi:10.3390/genes14010199] [https://hdl.handle.net/10807/224847]

What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review

Sforza, Elisabetta
;
Margiotta, Gaia;Giorgio, Valentina;Limongelli, Domenico;Proli, Francesco;Leoni, Chiara;De Rose, Cristina;Trevisan, Valentina;Romeo, Domenico Marco;Calandrelli, Rosalinda;De Corso, Eugenio;Massimi, Luca;Palmacci, Osvaldo;Rigante, Donato;Zampino, Giuseppe;Onesimo, Roberta
2023

Abstract

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease.
2023
Inglese
Sforza, E., Margiotta, G., Giorgio, V., Limongelli, D., Proli, F., Kuczynska, E., Leoni, C., De Rose, C., Trevisan, V., Romeo, D. M., Calandrelli, R., De Corso, E., Massimi, L., Palmacci, O., Rigante, D., Zampino, G., Onesimo, R., What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review, <<GENES>>, 2023; 2023 (14(1): 199): 1-12. [doi:10.3390/genes14010199] [https://hdl.handle.net/10807/224847]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/224847
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? ND
social impact