Aneta Witt-Porczyk1, Natalia Obłuska2, Anna Turska-Szybka1, Angelika Kobylińska1, *Dorota Olczak-Kowalczyk1
Down’s syndrome – craniofacial phenotypic features and oral cavity condition
Zespół Downa – cechy fenotypowe twarzoczaszki i stan jamy ustnej
1Zakład Stomatologii Dziecięcej, Warszawski Uniwersytet Medyczny, Polska
Kierownik Zakładu: prof. dr hab. n. med. Dorota Olczak-Kowalczyk
1Department of Pediatric Dentistry, Medical University of Warsaw, Poland
Head of Department: Professor Dorota Olczak-Kowalczyk, MD, PhD
2Student, praktyka prywatna
Kierownik praktyki: prof. dr hab. n. med. Dorota Olczak-Kowalczyk
2Student, private practice dental office
Head: Professor Dorota Olczak-Kowalczyk, MD, PhD
Streszczenie
Wstęp. W zespole Downa (ZD) istnieje wiele czynników sprzyjających chorobom jamy ustnej i utrudniających dbanie o higienę jamy ustnej i opiekę stomatologiczną. Dla lekarza dentysty ważna jest zatem znajomość objawów stanowiących cechy fenotypowe ZD i chorób jamy ustnej.
Cel pracy. Prezentacja charakterystycznych cech fenotypowych występujących w jamie ustnej w ZD, ocena stanu higieny, dziąseł i uzębienia oraz potrzeb w zakresie leczenia zachowawczego.
Materiał i metody. Do badań kwalifikowano dzieci i młodzież obojga płci, z ZD i ogólnie zdrowe w wieku 3-18 lat, po uzyskaniu pisemnej zgody pacjenta i/lub jego opiekunów. Uzyskano zgodę Komisji Bioetycznej WUM. Badanie obejmowało ocenę zewnątrzustną twarzoczaszki i wewnątrzustną, w tym: warunki anatomiczne jamy ustnej, stan higieny i dziąseł (PLI, GI), uzębienia (PUWZ/puwz) i wady rozwojowe zębów (DDE). Zebrane dane poddano analizie statystycznej (R 3.2.5, R Core Team 2019, poziom istotności ≤ 0,05).
Wyniki. W badaniu wzięło udział 25 pacjentów z ZD (9,62 ± 4,22 roku) i 25 zdrowych (8,65 ± 3,25 roku). Wyłącznie w ZD obserwowano cechy fenotypowe, takie jak: płaski profil twarzy, skośno-górne ustawienie szpar powiekowych, zmarszczki nakątne, mały nos z obniżoną nasadą i szerokim grzbietem, krótka szyja, małe usta. Wartości PLI, GI były istotnie wyższe w ZD (1,63 ± 0,78 vs 1,07 ± 0,45; 0,63 ± 0,66 vs 0,04 ± 0,1). Próchnica zębów stałych występowała u 31,57% badanych z ZD i zdrowych, ale wartość PUWZ była wyższa u pacjentów z ZD (3,05 ± 3,61 vs 1,21 ± 2,32). Wskaźniki leczenia zachowawczego zębów mlecznych i stałych były istotnie niższe w ZD (odpowiednio p = 0,000 i p = 0,042). Wady rozwojowe szkliwa dotyczyły głównie zębów stałych i występowały częściej w ZD (21,05 vs 5,26%). Wady rozwojowe dotyczące budowy, kształtu i liczby zębów stwierdzono tylko u pacjentów z ZD.
Wnioski. U pacjentów z ZD częściej obserwuje się zaniedbania higieniczne, którym towarzyszy skłonność do zapaleń dziąseł i większe nasilenie próchnicy w porównaniu z grupą kontrolną.
Summary
Introduction. There are many factors contributing to oral diseases and making oral hygiene and dental care difficult in Down syndrome (DS). Therefore, it is important for a dentist to know the symptoms that constitute the phenotypic features of Down syndrome and oral diseases.
Aim. To present the characteristic phenotypic oral features in Down syndrome, assess the hygiene, gingiva and dentition, as well as the needs for conservative treatment.
Material and methods. Generally healthy children and adolescents of both sexes, with Down syndrome, aged 3-18 years, were qualified for the study after obtaining written consent from the patient and/or their legal guardians. The study was approved by the Bioethics Committee of the Medical University of Warsaw. The examination included extraoral and intraoral assessment of the facial skeleton, including anatomical conditions of the oral cavity, hygiene, gingival (plaque index, PLI; gingival index GI) and dental status (DMFT/dmft), as well as dental developmental defects (DDE). The collected data were analysed statistically (R 3.2.5, R Core Team 2019, significance level ≤ 0.05).
Results. The study included 25 patients with Down syndrome (9.62 ± 4.22 years) and 25 healthy subjects (8.65 ± 3.25 years). Phenotypic features such as a flat facial profile, upward slanting palpebral fissures, epicanthic folds, small flat nose with a wide, depressed bridge, short neck, and microstomia were observed only for Down syndrome. PLI and GI values were significantly higher in Down syndrome (1.63 ± 0.78 vs 1.07 ± 0.45; 0.63 ± 0.66 vs 0.04 ± 0.1). Dental caries of permanent teeth occurred in 31.57% of subjects with Down syndrome and healthy subjects, with higher DMFT in patients with Down’s syndrome (3.05 ± 3.61 vs. 1.21 ± 2.32). The rates of conservative treatment for primary and permanent teeth were significantly lower in Down syndrome (p = 0.000 and p = 0.042, respectively). Enamel defects were mainly detected in permanent teeth and were more common in Down syndrome (21.05 vs. 5.26%). Developmental defects in the structure, shape and number of teeth were found only in patients with Down syndrome.
Conclusions. Hygienic negligence is more common in patients with Down syndrome, and is accompanied by a tendency to gingivitis and a greater severity of caries compared to healthy controls.
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Introduction
Down syndrome (DS), or trisomy of chromosome 21, is a chromosomal aberration found across all races with a similar prevalence, estimated at 1-3 per 1000 live births worldwide, 1:588 live births in Poland (1-3). The most characteristic phenotypic symptoms include short stature, microcephaly, flat facial profile, flattened occiput, upward slanting palpebral fissures, epicanthus, a small nose with depressed nasal bridge, small, open mouth with an enlarged furrowed tongue without the center line, short neck, and a single palmar crease. The above dysmorphic features are accompanied by moderate to severe mental impairment and congenital malformations, including cardiac, gastrointestinal, urinary and skeletal defects. Also, multiple oral abnormalities are found in the affected patients. These include a highly arched palate, hypotonia of the orbicularis oris muscle, macroglossia, as well as abnormal tooth number and morphology. Disorders of breathing, swallowing or speech contribute to malocclusions (4). Many of the aforementioned factors promote plaque accumulation and the onset of oral conditions, such as gingivitis and dental caries. Additionally, changes in saliva have been observed in DS patients: salivary flow was statistically significantly lower than in the control group, the buffer capacity of saliva was significantly lower and the level of total protein was almost 2 times higher (2, 5). At the same time, concomitant immune deficiency promotes oral diseases and the spread of infections. Since this is particularly dangerous in patients with congenital heart disease increasing the risk of infective endocarditis, it is important for dentists to know the DS phenotype, as well as to be aware of the dental care needs of these patients (6).
Aim
The aim of this study was to present the characteristic oral phenotypic features in DS, to assess hygiene, gingival and dental status, as well as the need for conservative treatment.
Material and methods
Children and adolescents of both sexes with DS presenting to the Department of Pediatric Dentistry at the Medical University of Warsaw with the diagnosis of DS by a geneticist confirmed by genetic testing were eligible for the study. Recruitment to the control group was conducted in parallel to DS patients to ensure comparable age and number of the study groups. Inclusion criteria were age between 3 and 18 years, informed written consent from the patient and/or legal guardians to participate in the study, and cooperation allowing for basic dental examination. Children with a history of chronic systemic conditions or chronic medication use were excluded from the control group. The study was part of a project entitled “Risk factors for caries disease in selected genetic syndromes”, which was approved by the Bioethics Committee of the Medical University of Warsaw (No. KB/228/2009). It comprised a physical examination, including an extraoral assessment of facial shape and symmetry, the condition of the skin, lips and corners of the mouth, and an intraoral assessment of the gingiva, hygiene status and dentition. The examination was performed in a dental office setting, in a dental chair, under artificial lighting with the use of a probe and a dental mirror. The Plaque Index (PLI) by Löe & Silness was used to assess hygiene status, and the Gingival Index (GI) by Löe and Sillness (7, 8) was used to assess the gingiva. The teeth 16, 11, 24, 36, 31, 44 (in primary dentition: 55, 51, 63, 75, 71, 83) were indicator teeth. Plaque was assessed in the cervical region of the indicator teeth on four surfaces using a scale from 0 – no plaque to 3 – a thick layer of plaque filling the interdental space. Hygiene status was assessed based on the mean value of ≤ 1 as good, > 1 ≤ 2 as sufficient, and > 2 as unsatisfactory. Gingival condition was assessed on a four-point scale, where 0 – healthy gingiva to 3 – severe inflammation. Gingivitis is assessed as mild, moderate and severe if the mean sum of the values obtained for individual teeth is in the range of 0.1-1.0, 1.1-2.0, and 2.1-3.0, respectively. Dentition was assessed for the number of teeth (hypodontia, hyperdontia, extraction), the presence of carious cavities (according to ICDAS II criteria codes ≥ 3), missing teeth due to caries, and fillings. The frequency and the level of caries were calculated using dmft, DMFT, dmft + DMFT indicators. Indicators of conservative treatment of permanent and deciduous teeth were calculated. The presence of dental malformations in the form of anatomical anomalies, enamel defects (internal discoloration of teeth, limited enamel opacities, diffuse opacities, enamel hypoplasia, including pit hypoplasia, groove hypoplasia, partial or complete absence of enamel according to the modified DDE index (9, 10) were also evaluated. Panoramic radiographs were taken in cooperative children aged ≥ 5 years with medical indications (suspected periapical infections or congenital malformations). Student’s t-test, chi-square test of concordance and Spearman’s rank correlation analysis were used for statistical analysis. The analysis was performed using the R 3.2.5 package (R Core Team 2019) and with a significance level at p = 0.05.
Results
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Piśmiennictwo
1. Silva AM, Nogueira BR, Leal TAC et al.: Physiological and Behavioral Manifestations of Children and Teenagers with Down Syndrome During the Dental Appointment: A Comparative Cross-Sectional Study. Pesqui Bras Odontopediatria Cli?n Integr 2022; 20: e4658.
2. Ziętek M, Grzebieluch W, Kobierska-Brzoza J et al.: Wybrane parametry śliny u dzieci i młodzieży z zespołem Downa – doniesienia wstępne. Dent Med Probl 2008; 45(2): 165-168.
3. Goud EVSS, Gulati S, Agrawal A et al.: Implications of Down’s syndrome on oral health status in patients: A prevalence-based study. J Family Med Prim Care 2021; 10: 4247-4252.
4. de Moraes ME, de Moraes LC, Dotto GN et al.: Dental anomalies in patients with Down syndrome. Braz Dent J 2007; 18(4): 346-350.
5. Normastura AR, Norhayani Z, Azizah Y, Khairi M: Saliva and dental caries in Down syndrome children. Sains Malysiana 2013; 42(1): 59-63.
6. Szydłowska A, Skierska A, Kusa J et al.: Infective endocarditis in a boy with Down syndrome after cardiac surgery in infancy and removal of 13 teeth in the fifth year of life. Folia Cardiologica 2022; 17(5): 318-321.
7. Cuenca M, Mari?n MJ, No?voa L et al.: Periodontal Condition and Subgingival Microbiota Characterization in Subjects with Down Syndrome. Appl Sci 2021; 11(2): 778.
8. Al Anni DMJ: Periodontal Health Status Of A Group of children with Down’s syndrome, in Baghdad-Iraq (A comparative study). Mustansiria Dental Journal 2010; 7(1): 31-40.
9. Makieh RE , Kouchaji C, Al Kurdi S: Prevalence of Developmental Defects of Enamel Among Children With Down Syndrome in Damascus, Syria. Avicenna J Dent Res 2022; 14(1): 10-13.
10. Gugnani N, Pandit IK, Srivastava N et al.: International Caries Detection and Assessment System (ICDAS): A New Concept. Int J Clin Pediatr Dent 2011; 4(2): 93-100.
11. Hattori M, Fujiyama A, Taylor TD et al.: The DNA sequence of human chromosome 21. Nature 2000; 405(6784): 311-319.
12. Sadowska L, Mysłek-Prucnal M, Choińska AM , Mazur A: Diagnostyka i terapia dzieci z zespołem Downa w świetle badań własnych i przeglądu literatury przedmiotu. Przegl Med Uniw Rzesz 2009; 1: 8-30.
13. Linossier AG, Valenzuela CY, Toledo H: Differences of the oral colonization by Streptococcus of the mutans group in children and adolescents with Down syndrome, mental retardation and normal controls. Med Oral Patol Oral Cir Bucal 2008; 13(9): 536-539.
14. Oredugba FA: Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome. Downs Syndr Res Pract 2007; 12(1): 72-76.
15. Al Habashneh R, Al-Jundi S, Khader Y, Nofel N: Oral health status and reasons for not attending dental care among 12- to 16-year-old children with Down syndrome in special needs centres in Jordan. Int J Dent Hyg 2012; 10(4): 259-264.
16. Morinushi T, Lopatin DE, Nakao R, Kinjyo S: A comparison of the gingival health of children with Down syndrome to healthy children residing in an institution. Spec Care Dentist 2006; 26(1): 13-19.
17. Subramaniam P, Girish Babu K, Mohan Das L: Assessment of salivary total antioxidant levels and oral health status in children with Down syndrome. Spec Care Dentist 2014; 34(4): 193-200.
18. Al-Sufyani GA, Al-Maweri SA, Al-Ghashm AA, Al-Soneidar WA: Oral hygiene and gingival health status of children with Down syndrome in Yemen: A cross-sectional study. J Int Soc Prev Community Dent 2014; 4(2): 82-86.
19. Zie?tek M, Kaczmarek U: Oral hygiene and periodontal status in children and adolescents with Down syndrome. Nowa Stomatol 2019; 24(1): 20-26.
20. Martinez-Martinez RE, Loyola-Rodriguez JP, Bonilla-Garro SE et al.: Characterization of periodontal biofilm in Down syndrome patients: a comparative study. J Clin Pediatr Dent. 2013; 37(3): 289-295.
21. Elrefadi R, Beaayou H, Herwis K, Musrati A: Oral health status in individuals with Down syndrome. Libyan J Med 2022; 17(1): 2116794.
22. Ram G, Chinen J: Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 2011; 164(1): 9-16.
23. Zampieri BL, Biselli-Pèrico JM, de Souza JE et al.: Altered expression of immune-related genes in children with Down syndrome. PLoS ONE 2014; 9(9): e107218.
24. Macho V, Coelho A, Areias C et al.: Craniofacial features and specific oral characteristics of Down syndrome children. Oral Health Dent Manag 2014; 13(2): 408-411.
25. Frydman A, Nowzari H: Down syndrome-associated periodontitis: a critical review of the literature. Compend Contin Educ Dent 2012; 33(5): 356-361.
26. Areias CM, Sampaio-Maia B, Guimaraes H et al.: Caries in Portuguese children with Down syndrome. Clinics 2011; 66(7): 1183-1186.
27. Macho V, Palha M, Macedo AP et al.: Comparative study between dental caries prevalence of Down syndrome children and their siblings. Spec Care Dentist 2013; 33(1): 2-7.
28. Areias C, Sampaio-Maia B, Macho V et al.: Does the chemistry in the saliva of Down syndrome children explain their low caries prevalence? Eur J Paediatr Dent 2013; 14: 23-26.
29. Silva MCPMD, Lyra MCA, Almeida HCR et al.: Caries experience in children and adolescents with Down Syndrome: A systematic review and meta-analysis. Arch Oral Biol 2020; 115: 104715.
30. Jaber MA: Oral health condition and treatment needs of a group of UAE children with Down syndrome. Ibnosina J Med Biomed Sci 2010; 2: 62-71.
31. Al-Maweri S, Al-Sufyani G: Dental caries and treatment needs of Yemeni children with down syndrome. Dent Res J 2014; 11(6): 631–635.
32. Ziętek M, Kaczmarek U: Salivary flow rate and some parameters of the saliva in Down’s syndrome patients. Dent Med Probl 2015; 52(1): 26-32.
33. Areias C, Sampaio-Maia B, Pereira Mde L et al.: Reduced salivary flow and colonization by mutans streptococci in children with Down syndrome. Clinics 2012; 67: 1007-1011.
34. Mohiddin G, Narayanaswamy AB, Masthan KMK et al.: Oral Candidal and Streptococcal carriage in Down syndrome patients. J Nat Sci Biol Med 2015; 6(2): 300-305.
35. Młynarska-Zduniak E, Zadurska M, Siemińska-Piekarczyk B: Orthodontic problems in patients with Down syndrome from infancy to maturity based on own observations. J Stoma 2015; 68(6): 703-717.
36. Oliveira AC, Paiva SM, Campos MR, Czeresnia D: Factors associated with malocclusions in children and adolescents with Down syndrome. Am J Orthod Dentofacial Orthop 2008; 133(4): 489.e1-8.