Sindrome De Rett En Odontologia

Med Oral Patol Oral Cir Bucal-AHEAD OF PRINT

Oral findings in Rett syndrome

Journal section: Odontostomatology for the disabled or special patients Publication Types: Review

Oral findings in Rett syndrome: A systematic review of the dental literature
María-Cristina Fuertes-González 1, Francisco-Javier Silvestre 2, José-Manuel Almerich-Silla 3

Staff dentist of the Red Cross DentalClinic for Special Patients, Valencia. Professor of the Master in Hospital Odontology and Special Patients 2 Assistant Professor of Odontology in Special Patients. Department of Stomatology, University of Valencia. Director of the Master in Hospital Odontology and Special Patients 3 Assistant Professor of Preventive and Community Care Odontology. Department of Stomatology, University of Valencia(Spain)
1

Correspondence: Departament d’Estomatologia Clinica Odontològica Universitat de València Gascó Oliag 1 46010 – Valencia (Spain) francisco.silvestre@uv.es

------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------Abstract
Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by de-velopmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 7 cases of RS published in the indexed literature (Medline) – the firstcorresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or an excess of oral / digital-manual habits. In any case, bruxism is the oral habit mostfrequently associated with RS – the treatment of which remains the subject of controversy.

Key words: Rett syndrome, oral manifestations, bruxism, review.

Introducción
Rett syndrome (RS) is a neurological development disorder characterized by the regression of psychomotor development with autistic manifestations, decelerated growth of the head, seizures, and stereotyped repetitive movements ofthe hands (1). Although initially described by Rett in 1966 (2), the compilation of 35 cases

describing the clinical features of the syndrome was published by Hagberg et al. in 1983 (3). RS almost exclusively affects females, since it involves a dominant X chromosome-linked mutation (MECP2 gene, region Xq28) (4). Although initially regarded as a neurodegenerative disease, it is now known thatRS does not involve neuron death (5).

Med Oral Patol Oral Cir Bucal-AHEAD OF PRINT

Oral findings in Rett syndrome

Table 1. Reviewed diagnostic criteria in Rett syndrome (6).

Required criteria 1. An apparently normal pre- and perinatal period. 2. Mostly normal psychomotor development up to 6 months of age. 3. Normal head circumference at birth. 4. Deceleration of head growth. 5. Loss ofmanual functional skills at age 0.5-2.5 years. 6. Stereotypic movements of the hands, such as clenching, applause, washing movements or taking the hands to the mouth. 7. Social retraction, communication dysfunction, forgetting of learned words, and cognitive disability. 8. Gait apraxia or failure to learn to walk. Supporting criteria 1. Respiratory dysfunction: apneas, hyperventilation, sharpexpulsion of air and saliva, aerophagia. 2. Bruxism. 3. Sleep disturbances from infancy. 4. Abnormal muscle tone associated to dystonia 5. Peripheral vasomotor alterations. 6. Scoliosis / kyphosis. 7. Retarded growth. 8. Small, hypotrophic and cold feet; small and thin hands. Exclusion criteria 1. Enlarged internal organs or other signs of storage disease. 2. Retinopathy, optic atrophy or cataracts....