Oral Health-Related Quality of Life among Children and Adolescents with Beckwith–Wiedemann Syndrome in Northern Italy

Abstract

Due to associated maxillofacial growth anomalies and the impairment of oral functions, macroglossia may negatively impact the oral health-related quality of life (OHRQoL) of people with Beckwith–Wiedemann syndrome (BWS). Therefore, the aim of this cross-sectional study was to determine the OHRQoL of Italian children and adolescents with BWS compared to healthy peers and to identify which symptoms related to macroglossia had the highest impact. A total of 48 patients with BWS and 48 age- and gender-matched controls completed the Italian version of OHIP-14 and a questionnaire on functional, oral and aesthetic outcomes. Parents of patients with BWS who had undergone tongue reduction surgery (TRS) answered additional questions related to surgery. The BWS group scored higher than controls on the total OHIP-14 and on the dimensions of oral function (p: 0.036) and psychosocial impact (p: 0.002), indicating a reduced OHRQoL. Neither gender nor age had an impact on OHRQoL. Scores were worse in children and adolescents treated with TRS, as most of them still had open bite malocclusion and speech difficulties. The OHRQoL of children and adolescents affected by BWS is worse than that of their healthy peers in spite of the surgical treatment of macroglossia.

Orthodontic Management of Children with Beckwith-Wiedemann Syndrome: An Evidence-based Review

“…Naujokat et al 9 reported high percentages of patient satisfaction regarding tongue shape and pronunciation, following either surgical or conservative treatment for macroglossia; nevertheless, phonation and lip closure difficulties, as well as malocclusion, persisted in a large portion of the patients. 9 Defabianis et al 25 studied the oral health-related quality of life (OHRQoL) in patients with BWS and found that the oral function, orofacial appearance, and psychosocial impact indexes were significantly worse in patients with BWS compared with the control group (patients without BWS). Additionally, a significant percentage of patients with BWS who had been treated with glossectomy still had speech difficulties and open bite after treatment.…”

“…Additionally, a significant percentage of patients with BWS who had been treated with glossectomy still had speech difficulties and open bite after treatment. 25…”

“…Additionally, a significant percentage of patients with BWS who had been treated with glossectomy still had speech difficulties and open bite after treatment. 25 Even though there is a high need for OT in patients with BWS, there is poor-quality evidence regarding the recommended OT protocols and related outcomes. The chin cap and a maxillary active plate with a tongue guard were the most common OT options in the included studies, and four of them reported two-phase OT.…”

“…20 A total of nine patients in three of the included studies needed additional tongue reduction surgeries growing up. 9,17,18 Defabianis et al 25 reported that, for a significant percentage of patients with BWS, glossectomy did not lead to a better quality of life. Additionally, Meazzini et al, 22 in a retrospective observational study, found no statistically significant difference in mandibular growth between patients with BWS treated and not treated with glossectomy.…”

Surgical approach to a rare case of Beckwith Wiedemann syndrome with left thigh hyperplasia

“…Beckwith Wideman is a rare syndrome (1 case every 10,000 newborns) 1 characterized by a variety of clinical forms, united by the presence of hypertrophy of some parts of the body (such as the tongue or the limbs). 2 Some authors have in the past evaluated how the hypertrophy of some organs, such as the tongue, and its surgical correction can influence the patients' quality of life, 3 , 4 but in the literature there are rare if not absent works that evaluate the impact of hypertrophy of other parts of the body, such as the thigh.…”