Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study

Abstract

Objectives: Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion and dysphagia in patients with RS. Methods: This preliminary study was conducted at the Ear, Nose & Throat Clinic of the University Hospital of Siena, Siena, Italy, from January 2014 to December 2017. A total of 56 patients with RS were examined and grouped according to the severity of dysphagia (absent, mild, moderate or severe) and malocclusion (<2 mm, 2–3 mm, 3–4 mm or >4 mm). Results: All of the patients were female and the mean age was 11.3 years. Eight (14.3%) patients had mild, 18 (32.1%) had moderate and 30 (53.6%) had severe dysphagia. Four (7.1%) patients had <2 mm occlusion, 10 (17.9%) had 2–3 mm occlusion, 26 (46.4%) had 3–4 mm occlusion and 16 (28.6%) had >4 mm occlusion. Mild dysphagia was observed in 100% and 40% of patients with <2 and 2–3 mm malocclusion, respectively, while moderate dysphagia was present in 60% and 38.5% of patients with 2–3 and 3–4 mm malocclusion, respectively. Severe dysphagia was observed in 28.6% and 87.5% of patients with 3–4 and >4 mm malocclusion, respectively. There was a significant correlation between dysphagia and malocclusion severity (P <0.001). Conclusion: A higher degree of malocclusion was associated with more severe dysphagia among a cohort of patients with RS.Keywords: X-Linked Mental Retardation; Rett Syndrome; Dysphagia; Malocclusion; Feeding and Eating Disorders of Childhood.

Challenges in the Dental Management of Rett Syndrome under General Anesthesia: A Rare Disease

“…Moreover, another study categorized RS into four conventional phases starting from a delayed developmental milestone to further regression with loss of acquired communication and signs of mental retardation. These were followed by neuromotor challenges such as walking, followed by a later phase of motor deterioration which is characterized by weight loss and skeletal deformities (24). In our case, inability of cooperation and orientation was noted along with stiffness of the lower extremities, inability to stand, and the need for support to sit that were noted.…”

Fiberoptic Endoscopic Evaluation of Swallowing Findings in Children With Rett Syndrome

“…While the mechanisms underlying growth failure are poorly understood, contributing factors include disorders of swallowing, bowel dysfunction leading to poor nutrients/fluid absorption, malocclusion, and reduced intake. 9 -11 In a study of 60 RTT patients, Reilly and Cass 9 report that 41% of patients had feeding disorders related to the oral stage of swallowing while 20% and 15% of them had feeding disorders related to the oropharyngeal and oesophageal phase respectively. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most frequent findings in Mezzedimi et al 12 RTT patients, while dysphagia was primarily limited to oral preparatory phases, with the pharyngeal phase normal in most other cases.…”

Oral Manifestations of Rett Syndrome—A Systematic Review

“…With respect to the oral health conditions of patients with Rett Syndrome, limited reports have been able to describe dental characteristics. Bruxism has been commonly reported as a repetitive feature, however this is not pathognomonic [6,9]. Other dental findings reported are gingivitis, poor periodontal status, anterior open-bite is also noted to be associated with palatal shelving.…”

“…Hagberg outlined four classical stages of Rett syndrome that started from a delayed developmental milestone to further regression with loss of acquired communication and signs of mental retardation. These were followed by difficulties in walking and neuromotor retardation followed by a later stage of motor deterioration characterized by weight loss and skeletal deformities [6].…”

“…This could be due to mouth breathing, digital sucking and mouthing. Other dental anomalies include malocclusion resulting from incorrect mandibular positioning and unfavorable growth patterns [6].…”