Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Abstract

Background Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are challenging, due to the rarity of these conditions, and dearth of literature to support evidence-based clinical decision making. Methods Using the Delphi method, an international, multi-disciplinary group of individuals, with significant experience in the care of patients with skeletal dysplasia, convened to develop multi-disciplinary, best practice guidelines in the management of craniofacial aspects of these patients. Results After a comprehensive literature review, 23 initial statements were generated and critically discussed, with subsequent development of a list of 22 best practice guidelines after a second round voting. Conclusions The guidelines are presented and discussed to provide context and assistance for clinicians in their decision making in this important and challenging component of care for patients with skeletal dysplasia, in order standardize care and improve outcomes.

Hearing loss in Norwegian adults with achondroplasia

“…Of particular notice was the high prevalence of hearing loss observed in young persons with achondroplasia, consistent with prior studies [ 7 , 9 , 11 ]. These findings highlight the importance of a regular hearing assessment and adequate management and follow-up of acute and chronic middle ear disease during childhood in achondroplasia [ 10 , 12 , 23 ]. This should also include a low threshold for referral to an otolaryngologist in cases of recurrent otitis media, speech delay, or suspicion of chronic otitis media, in order to treat properly, and decrease the risk of permanent hearing loss [ 5 , 12 , 23 , 38 ].…”

“…In the recently revised recommendations on Health Supervision for People with Achondroplasia (2020), provided by the American Academy of Pediatrics, the recommendation of a formal routine hearing assessment in children, ideally on an annual basis, has been extended to also include adolescents and adults [ 23 ]. Other guidelines recommend a routine assessment of hearing in early childhood at the time of diagnosis and at age 5 years, and further assessment if there is a speech delay, suspicion of hearing difficulties, or signs or symptoms of middle ear disease [ 10 , 12 ].…”

“…In achondroplasia, midface hypoplasia, short Eustachian tubes, small pharynx, and the relative enlargement of tonsils and/or adenoids, are predisposing factors for recurrent upper airway infections and chronic middle ear effusion [3,[6][7][8][9]. Prior studies on children with achondroplasia have reported that up to 70% have experienced acute or recurrent otitis media [9][10][11], giving increased risk of persistent middle ear disease and permanent hearing loss [5,12]. Hearing loss has been reported in 50-70% of children with achondroplasia [6,7,9,13].…”

Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study

“…29 Improved multidisciplinary care and guideline-driven recommendations for these patients influence the earlier interventions and tendency for surgical treatment. 30 Refractory Eustachian tube dysfunction and sleeprelated airway obstruction in achondroplasia are reflected in this study by the large number of patients who had repeated pharyngeal and tympanostomy procedures. In addition, the choice to perform adenoidectomy rather than adenotonsillectomy as an initial pharyngeal procedure for sleep-disordered breathing is likely due to age, adenoid and tonsil size, severity of OSAS, and assessment of relative perioperative risks.…”

Changes in skeletal dysplasia nosology

“…From a molecular point of view, according to Savarirayan & Rimoin, SD are classified into five major categories [ 35 ]: ( 1 ) Defects in the structure of the structural proteins of the cartilage. These include type I, II, IX, X, XI collagen and ECM proteins [ 36 ].…”