Oral findings in Rett syndrome: An update and review of the literature

Abstract

Rett syndrome is a progressive pediatric neurodevelopmental disorder, predominantly affecting females, characterized by a seemingly normal prenatal and perinatal period, followed by neurodevelopmental stagnation, and then rapid regression. The purpose of this study was to provide an update of the literature on the oral aspects of Rett syndrome and their possible treatment in patients suffering from this pathology. After an electronic and manual search in MEDLINE (PubMed) and the Cochrane Library, 12 articles were found, for a total of 142 patients affected by Rett syndrome. A high prevalence of bruxism, anterior open bite, ogival palate, sucking habits, and difficulties in maintaining oral hygiene was noted. There were also oral findings related to the pharmacological treatment, which included xerostomia, glossitis, erythema multiforme, gingival hyperplasia, dysphagia, and lingual paralysis. It is important for the dentist to know what problems related to the oral cavity can be encountered in a patient diagnosed with Rett syndrome and what preventive measures can be applied.

Why Does the Face Predict the Brain? Neural Crest Induction, Craniofacial Morphogenesis, and Neural Circuit Development

“…To evaluate this relationship, we once again began with the genetics of human developmental disorders and their consequences for morphological and behavioral disruption. The incidence of S/F/S difficulties from birth through early childhood -collectively referred to as pediatric dysphagia -is significantly elevated in genetic developmental syndromes as well as children with clinically diagnosed behavioral neurodevelopmental disorders (Berlin et al, 2011;Kleinert, 2017;Robertson et al, 2017;Bianco and Rota, 2018;Maynard et al, 2020b;Nordstrom et al, 2020), including infants and toddlers with 22q11DS (Eicher et al, 2000). Craniofacial and brain anomalies characterize all of these developmental disorders, including 22q11DS.…”

Oral Manifestations of Rett Syndrome—A Systematic Review

“…These findings are consistent with the knowledge available in the literature. In effect, periodontal disease findings of mentally impaired patients (mental retardation not associated with Down's syndrome and autism) regularly report elevated incidence and severity of gingivitis and periodontitis secondary to dental plaque deposition relative to the general population [41]. As a result, the caregiver can have trouble preserving an adequate standard of oral hygiene, considering the difficulties of accessing an individual's oral cavity, which can be further exacerbated by their behavioral characteristics [15].…”

“…Dental caries in Rett syndrome patients is very common and it requires the cooperation of parents of these children. Fluoride applications should be used to reduce the likelihood of caries and frequent visits should also be encouraged to dentists for follow up [41].…”

Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review

“…Between 12 months and 4 years after birth, children develop autistic-like behaviors (i.e., lack of interest in social interaction and language regression), problems in general dynamic coordination (ataxia), and stereotypic hand movements, the last of which are considered a hallmark of the disease. During this time period, patients often develop breathing irregularities, such as temporary stopping of breathing (apnea) or hyperventilation syndrome, irregular sleep-wake rhythm, feeding and swallowing difficulties, seizures, and irritability [ 8 , 9 , 10 , 11 ]. After this period of rapid deterioration, neurological features stabilize, and some affected children may even show slight improvement in the ability of communicate.…”