Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study

Calandrelli, Rosalinda; Pilato, Fabio; D’Apolito, Gabriella; Tenore, Lorenzo; Onesimo, Roberta; Leoni, Chiara; Zampino, Giuseppe; Colosimo, Cesare

doi:10.1007/s00381-022-05484-w

Cited by 2 publications

(2 citation statements)

References 17 publications

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“…Conservative treatments [31] Surgery [32] Obesity Worsening of comorbidities Decrease of QoL Promotion of healthy eating [33] Promotion of physical activity [34] Personalized diet [35] Counselling on satiety control [36] CPAP: continuous positive airway pressure; ENT: otolaryngologist; MRI: magnetic resonance imaging; QoL: quality of life.…”

Section: Periodontal Disease Deterioration Of Chewing Functionmentioning

confidence: 99%

“…Knowing that people with ACH and obesity must face a double stigma and social exclusion, causing stress and anxiety, and have a greater cardiovascular risk and a worsening of comorbidities such as sleep apnea, weight monitoring and education regarding healthy eating should be provided at each follow-up appointment involving the family [36]. In this context, psychological support for the patient and family through interactions with national associations is a valuable aid in improving the QoL and promoting autonomy.…”

Section: Management Of Obesity and Nutritional Aspectsmentioning

confidence: 99%

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What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

Sforza

Margiotta

Giorgio

et al. 2023

Genes

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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.

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