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), insensitivity to pain. 1.3-7 In 1989, Rice noted that the (14/17), mouth breathing (7/17), (5/17), Rett patient is extremely thin in spite of having a good tongue thrusting (5/17). (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 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- 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 . 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 , 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. The most common oral findings included digit/ teristic standards of the RS child reported by Rice8 hand sucking and/or biting, bruxism, mouth breath- (1989). ing, drooling, and tongue thrusting as habits and a high A relevant finding is that 7 of the 17 children were gingivitis prevalence, a low caries prevalence, non- caries-free (Fig 4) despite the high caries prevalence in physiological dental attrition, palatal shelving, and a children in Brazil. high prevalence of anterior open bite as oral signs. Palatal shelving probably associated to sucking hab- Rett syndrome children present frequent habits of its and mouth breathing was observed in 53% (9 of 17) mouthing hands and sucking and/or biting hands and of the children examined. fingers, which are stereotypic hand movements and The anteroposterior relationship, the vertical rela- pathognomonic signs of the condition. These habits tionship, and the lateral relationship between the max- were observed in all children examined and could have illary and mandibular arches were evaluated during caused changes in the occlusion. the occlusion examination. In seven children who were In agreement with Coleman et al.6 (1988), Hagberg1 in the primary dentition, the relationship of the maxil- (1989), Peak et al.9 (1992), and Pereira3 (1993), who lary and mandibular second molars was evaluated. A stated that bruxism is a helpful supporting sign in iden- flush terminal tifying the syndrome because of its high frequency, it plane was present was observed in most of the 17 children. in 57% (4 of 7) of It is well known that several etiologic factors are the children and a responsible for mouth breathing such as swollen ton- mesial step was sils and adenoids, nasopharyngeal obstructions and present in the deformities, and upper airway infections. It seemed other 3. In the an- that upper airway infections were the principal factor terior segment, for this habit among the examined children. 57% (4 of 7) had a 10 Fig 4. Caries free primary surfaces Buccino and Weddell (1989) included drooling as Baume type I arch, in a child with Rett syndrome. one of the most often reported habits in the specialized medical literature. However only 5 of 17 RS children showed it, which could be as- TABLE. PERCENTAGE OF ORAL MANIFESTATIONS OF THE HARD AND SOFT sociated more with their difficulty in swal- TISSUES OBSERVED IN 1 7 CHILDREN WITH RETT SYNDROME EXAMINED lowing saliva then with hypersalivation itself. Oral manifestations Percentage The high frequency of gingivitis ob- served was probably related to the large Soft tissues Gingivitis 76% (13/17) "Benign migratory glossitis" 6% (1/17) bacterial plaque accumulation, which was examined with the use of disclosing Hard tissues Slight dental attrition 47.5% (8/17) agents. This large bacterial plaque accu- Severe dental attrition 23.5% (4/17) mulation was due to poor oral hygiene Decayed dental surfaces' 2.7% habits, because children with Rett syn- Palatal shelving 53% (9/17) drome are incapable of taking care of their own teeth as they no longer have purpose- ' 97.3% caries free surfaces ful hand skills. In addition, their parents'

Pediatric Dentistry - 19:5, 1997 American Academy of Pediatric Dentistry 351 instructions and attitudes toward an efficient oral hy- candidate, School of Dentistry, University of Sao Paulo. Ms. giene practice were not effective. Romanois assistant professor of pediatric dentistry, School of 1° 9 Dentistry, Federal University of Pelotas (RS), Brazil and a PhD As Buccino and Weddell (1989) and Peak et al. candidate, Schoolof Dentistry, University of Sao Paulo. Dr. Birman (1992) also reported that their samples were caries-free, is associate professor, Departmentof Stomatology,School of Den- more studies in this area should be conducted. tistry, Universityof Sao Paulo(SP), Brazil. Dr. Mayeris assistant Dental attrition was probably due to the excessive professor, Departmentof Microbiology, BiomedicalSciences In- habit of bruxism. This finding is in agreement with stitute, Universityof SaoPaulo (SP), Brazil. Peak9 et al. 1. HagbergBA: Rett syndrome:clinical peculiarities, diagnos- Rett syndrome children with gait apraxia are more tic approach and possible cause. Pediatr Neurol 5:75-83, susceptible to falls and therefore to injuries in the an- 1989. 2. HagbergBA, Aicardi J, Dias K, RamosO: A progressive syn- terior teeth. dromeof autism, dementia, ataxia and loss purposeful hand Except for the digit/hand sucking and/or biting movementin girls: Rett’s syndrome:report of 35 cases. Ann habits exhibited by all patients with this condition, no Neurol 14:471-79, 1983. single oral finding noticed in this survey was pathog- 3. Pereira JLP: Sindromede Rett: perguntas e re~postas, Rio de Janeiro: ABRE-TE,1993, pp 5-14. nomonic of RS. However, patterns of some of these 4. SchwartzmanS: Sindrome de Rett. Temas Desenv 1:8-13, findings may be characteristic of the syndrome, such 1991. as bruxism, dental attrition, open bite, palatal shelving, 5. Trevathan E, Moser HW,Optiz JM, Helena M~, Percy AK, and gingivitis. Routine oral examination and care are Naidu S, HolmVA, Boting CC: Diagnostic criteria for Rett a necessary part of the overall medical supervision for syndrome. Ann Neuro123:425-28, 1988. 6. ColemanM, Brubaker J, Hunter K, Smith G: Rett syndrome: patients with RS. It is hoped that this paper will add a survey of North American patients. J Ment Defic Res information to this rare syndrome as well as help phy- 32:117-24,1988. sicians and dentists who care for RS patients. In addi- 7. Keret D, Basset GS, Bunnell WP,Marks HG: Scoliosis in Rett tion, it is hoped that other studies on this condition will syndrome.J Pediatr Orthop8:138-42, 1988. be conducted in order to determine the real state of oral 8. Rice M: Nutrition care guidelines for Rett syndrome, San Diego, University of California, 1989, pp 3-4. health in RS population. 9. Peak J, EvesonJW, Scully C: Oral manifestations of Rett’s syndrome.Br Dent J 172:248-49, 1992. Conclusions 10. Buccino MA,Weddell JA: Rett syndrome: A rare and often 1. The most frequent habits observed were digit/ misdiagnosedsyndrome: case report. Pediatr Dent 11:151- 57, 1989. hand sucking and/or biting (17 of 17), bruxism 11. World Health Organization: Oral health surveys--Basic (14 of 17), mouth breathing (7 of 17), drooling methods, Geneva, 1990. (5 of 17), and tongue thrusting (5 of 17). 12. American Academy of Craniomandibular Disorders: 2. Gingivitis was the most common alteration of Craniomandibular Disorders. Guidelines for Evaluation, soft tissues. Diagnosis, and Management.Chicago: Quintessence Pub- lishing Co, 1990, pp 22. 3. A low prevalence of decayed tooth surfaces 13. O’LearyTJ, DrakeRB, Naylor JE: The plaque control record. (2.7%) was present. J Periodont43:38, 1972. 4. More than half (12 of 17) of the children pre- 14. CasamassimoPS, Christensen JR, Fields Jr HW:Examina- sented nonphysiological dental attrition. tion, diagnosis, and treatment planning. In: Pediatric Den- 5. Palatal shelving (high palate) was observed tistry: Infancy ThroughAdolescence, 2nd Ed. PinkhamJR, Ed. Philadelphia: WBSaunders Co, 1994, pp 267-73, 426- 53% (9 of 17) of the children. 27. 6. A high prevalence of open bite (9 of 17) was 15. BaumeLJ: Physiologicaltooth migrationand its significance observed. for the developmentof occlusion. I The biogenetic course 7. None of the children had any anomaly of tooth of the deciduousdentition. J Dent Res 29:123-32,1950. number, size, form, structure, and eruption. The authors thank Dr. Maria Helena G. Marsicanofor her coop- eration in the developmentof this survey and Dr. MarceloR. Fraga Ms. Ribeiro is assistant professor of pediatric dentistry, Schoolof for his kind help in reviewingthe translation to English. Dentistry, Federal University of Juiz de Fora, Brazil and a PhD

352 AmericanAcademy of Pediatric Dentistry PediatricDentistry - 19:5, 1997