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Oral Manifestations in Rett Syndrome: a Study of 17 Cases

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Oral Manifestations in Rett Syndrome: a Study of 17 Cases Scientific Article Oral manifestationsin Rett syndrome: a study of 17 cases RosangelaAlmeida Ribeiro, MSAna Regina Romano,MS Esther GoldenbergBirman, PhD. M;ircia P. Alves Mayer, MS, PhD Abstract holding spells, forced expulsion of air or saliva, elec- Seventeen patients with a meanage of 7.33 (range 2.7- troencephalogram abnormalities, seizures, peripheral 12.7) years with Rett syndrome(a progressive neurologi- vasomotor disturbances, constipation, abdominal cal disorder that occurs mainlyin females) were evaluated bloating, night laughing, hypotrophic small feet and hands, weight loss, growth retardation, and apparent for oral manifestationsand habits. The most frequent habits s were digit~hand sucking and~orbiting (17/17), bruxism insensitivity to pain. 1.3-7 In 1989, Rice noted that the (14/17), mouth breathing (7/17), drooling (5/17), Rett patient is extremely thin in spite of having a good tongue thrusting (5/17). Gingivitis (13/17) was the appetite, and that difficulty in gaining weightis a threat commonalteration of soft tissues. Only2.7% of tooth sur- to the child’s life. faces were decayed. Nonphysiologicaldental attrition was Oral findings present in 71%(12/17) of the children. Palatal shelving could be observedin 53 %(9/17) of the children, probably Although mentioned in some previous reports, oral related to the digit~hand sucking and~orbiting habits. A findings in Rett syndromehave received scant atten- high prevalenceof anterior open bite (9/17) wasobserved. tion in the literature. Bruxismis mentionedfrequently. No patients exhibited anomalies of tooth number, size, The RS bruxism is an episodic creaking sound similar form, structure, or eruption. (Pediatr Dent 19:349-52,1997) to that of a slowly uncorkedwine bottle. It appears to be producedfar back in the jaw. It is a helpful support- ett syndrome(RS) is a progressive neurological ing sign, even if it is not absolutely pathognomonic.1,3, 9 Colemanet al. 6 reported in 1988 that bruxism was disorder estimated to affect 1:10,000-1:15,000 R live female births. 1 It remained almost unknown present in 95%of 63 children with RS studied, accord- until 1983, when Hagberg et al. 2 published a pooled ing to their parents. Theyalso noted protrusion of the French-Portuguese-Swedish series of 35 patients, in- tongue in 65%, accompaniedby hypersalivation in 84%. creasing the interest and awareness of this condition Buccino and Weddell1° (1989) were the first to com- worldwide. ment on the stomatological aspects in Rett syndrome RS presents clear signs and symptoms. The preg- in the dental literature. They included bruxism, drool- nancy of mother, delivery, physical growth parameters ing, biting the hands, digit/hand sucking, and tongue at birth, neonatal period, and the first few months of protrusion as habits and hypersalivation, micrognathia, life are fairly normal and uneventful for patients with abnormal chewing, narrow maxillary arch, and high RS.1, 3, 4 Usuallyfrom 6 to 18 monthsof the child’s life, arched palate as oral signs. They reported a case of a changes like developmental stagnation, altered com- 4-year, 3-month-old white female with RS with all 20 municativeability, loss of active play interest and par- primary teeth caries-free and sound enamel, and who tial or complete loss of acquired purposeful manual was asymptomatic. Generalized attrition of the primary skills occur quickly. The progressive evolution of teeth, especially the maxillary and mandibularanterior changes leads to a social withdrawal. The child as- teeth, was present and associated with the neurologi- sumes autistic behavior. The stereotypic hand move- cal and psychological disturbances that led to bruxism. ments such as hand wringing/squeezing, clapping/ A 5-year-old girl with Rett syndromewas reported tapping, mouthing, and "washing’/rubbing auto- by Peak et al. 9 in 1992. The extraoral examination re- matisms appear after purposeful hand skills are lost. vealed hypertelorism and obvious bilateral masseteric Gait apraxia and truncal ataxia appear between ages 1 hypertrophy with constant bruxism producing a grat- and1,~- 45 years. ing sound. The intraoral examination showed a com- Other commonsymptoms are: periodic apnea dur- plete primary dentition with no caries. The incisors and ing wakefulness, intermittent hyperventilation, breath- canines presented gross attrition, but the molars were PediatricDentistry - 19:5,1997 AmericanAcademy of PediatricDentistry 349 normal except for wear consistent with bruxism. lateral displacement of To date, the dental literature on RS has been con- mandible fined to case reports.9-10 A comprehensive view of oral health of children with RS has not been determined. These children are cared for by dental profession- als, so it is important to report the most frequent oral Tongue IhnuUng manifestations and habits. This report describes the oral manifestations and associated habits in 17 RS children examined between 1993 and 1994 at the School of Den- tistry of Sao Paulo University in Brazil. Methods and materials Digiui-hand lucking and/< Seventeen girls with RS, previously diagnosed by a 0 10 20 30 40 SO 60 70 80 90 100 pediatric neurologist service, associated with the Fig 1. Oral habits presented in 17 children with Rett ABRE-TE—Sao Paulo (The Brazilian Rett Syndrome syndrome. Association of Sao Paulo), were referred to the School of Dentistry of the Sao Paulo University for dental treat- ment and examined clinically by two dentists with parental consent. The examiners were trained by a cali- brated examiner. In addition, the standard diagnostic criteria were reviewed. Using a specially written clinical evaluation form, personal data (including pregnancy, delivery, and medical history, diet history, dental history, and use of fluoride) and data of the general and clinical examina- tions were recorded. In order to avoid variability among examiners, one performed the examination of the hard tissues and another the examination of the soft tissues and occlusion. Caries data were obtained under artificial light af- ter professional mechanical tooth cleaning by using Fig 2. Child with Rett syndrome exhibiting bruxism habit mouth mirror and probe. Modified WHO Criteria" The 17 girls with confirmed Rett syndrome diagno- (1990) were used for recording dental caries. sis were aged from 2.7 to 12.7 years old (mean age 7.33 The criteria for diagnosing bruxism included either years). At the time of the examination 6 of the 17 RS a clinical exam or a parental report or both. The clinical patients were in the primary dentition, 10 of 17 in the indicators of diagnosing this parafunction were the mixed dentition, and one in the permanent dentition. presence of dental wear/attrition and bruxofacets.12 The plaque index of O'Leary et al.13 (1972) was used Oral habits to assess the oral hygiene satus. After disclosing with "fucsin solution", the percentage of surfaces with The percentage of the oral habits exhibited by the plaque was determined. patients as reported by their parents and/or observed The evaluation of the occlusion included the antero- in the examination is shown in Fig 1. posterior relationship, the vertical relationship, and the All of the children (17 of 17) exhibited hand mouth- lateral relationship. In the anteroposterior relationship, ing habits, sucking, and/or biting fingers and hands. primary molar and canine relationships or permanent A high percentage of children (14 of 17) exhibited brux- molar and canine relationships were determined dur- ism (Fig 2). Mouth breathing habit was observed in 41% ing the intraoral examination. The vertical relationship (7 of 17) of the examined children. Tongue thrusting was examined for open bite or deep bite. The lateral habit (5 of 17) and lateral displacement of the mandible relationship of the arches was examined for midline (2 of 17) were noted during the examination of the chil- discrepancies and posterior crossbites.14In the primary dren since it would be difficult for parents to notice dentition, the anterior segment was examined for spac- these habits. Only 5 of 17 RS children showed a drool- ing between teeth, to be classified as Baume type I arch ing habit. 15 or Baume type II arch. Oral manifestations The palatal depth was observed during the exami- nation and compared subjectively without using The oral manifestations of the hard and soft tissues Korkhaus's methods. and the occlusion of the 17 RS children at the time of the examination are shown in the Table. Results A large bacterial plaque accumulation (plaque index 350 American Academy of Pediatric Dentistry Pediatric Dentistry - 19:5,1997 = 100%) and a high 29% (2 of 7) had a Baume type II arch, and 14% (1 of 7) frequency of gingivi- had a mixed arch. In only one child open bite was ob- tis were observed (Fig served while another child presented a deep bite. 3). In 10 children it was possible to establish the first An occasional permanent molar relationship. Ninety percent (9 of 10) finding in the soft had a class I molar relationship and 10% a class II ac- tissues was benign cording to Angle's classification. Eighty percent of the migratory glossitis, children (8 of 10) had open bite probably related to observed in only one Fig 3. Gingivitis aspect and sucking/biting habits, mouth breathing, and tongue child, while two chil- high plaque accumulation () thrusting. None of the 17 children had abnormal lat- dren exhibited an is- observed in Rett syndrome eral relationship. A reduction of the vertical dimension chemic area in the patients examined. was observed in 23% (4 of 17) of the children. palatal mucosa. Nonphysiological dental attrition was None of the children had any anomaly of tooth size, noticed in 71% (12 of 17) of the children involving most number, form, structure, and eruption. often the anterior primary teeth. Four of 17 children showed trauma in the anterior teeth. Discussion Only 2.7% of all dental surfaces examined were de- This study examined the oral findings of a sample cayed despite the ineffective or nonexistent oral hy- of children with a confirmed diagnosis of Rett syn- giene habits and the softened food within the charac- drome.
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