• Users Online: 60
  • Home
  • Print this page
  • Email this page
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 


 
 Table of Contents  
ORIGINAL ARTICLE
Year : 2020  |  Volume : 5  |  Issue : 1  |  Page : 77-82

Oral and perioral manifestations in Down's syndrome patients


1 Department of Oral Medicine and Radiology, School of Dental Sciences, Krishna Institute of Medical Sciences Deemed University, Karad, Maharashtra, India
2 Department of Periodontology, School of Dental Sciences, Krishna Institute of Medical Sciences Deemed University, Karad, Maharashtra, India

Date of Submission26-Nov-2019
Date of Decision13-Jan-2020
Date of Acceptance17-Jan-2020
Date of Web Publication23-Apr-2020

Correspondence Address:
Dr. S R Ashwinirani
Department Oral Medicine and Radiology, School of Dental Sciences, Krishna Institute of Medical Sciences Deemed University, Satara, Karad, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/bjhs.bjhs_73_19

Rights and Permissions
  Abstract 


INTRODUCTION: Down syndrome (DS) is also known as trisomy 21, is a genetic disorder caused by defect in chromosome 21. It is the most commonly diagnosed congenital malformation/mental retardation syndrome. DS individuals have greater risk of many systemic conditions like epilepsy, diabetes, leukemia, hypothyroidism and upper respiratory tract infections. Advances in medical field have increased the mean survival rate of these individuals. The dentist should able to diagnose the oral manifestations in DS patients and improve the quality of life of these individuals.
AIMS AND OBJECTIVES: The present study was designed to assess the oral and perioral features of DS patients and to compare age and gender wise distribution of these findings.
MATERIALS AND METHODS: Total of 100 DS patients were included in the study from special school in western part of Maharashtra. The clinical examination was carried out to record perioral, intraoral hard and soft tissue features in a predesigned proforma. The frequency and percentage distribution of these features were compared between the gender and age groups.
RESULTS: Out of 100 DS patients majority were males (63%). Fissured tongue was the most common (73%) intraoral feature present. Constricted palate was present in 59% of cases, Angles class III malocclusion was the most common occlusion abnormality present in these patients.
CONCLUSION: Majority of patients affected with DS were males and fissured tongue was the most common soft tissue feature present in these individuals.

Keywords: Crossbite, Down's syndrome, fissured tongue, macroglossia, malocclusion, openbite


How to cite this article:
Ashwinirani S R, Suragimath G. Oral and perioral manifestations in Down's syndrome patients. BLDE Univ J Health Sci 2020;5:77-82

How to cite this URL:
Ashwinirani S R, Suragimath G. Oral and perioral manifestations in Down's syndrome patients. BLDE Univ J Health Sci [serial online] 2020 [cited 2020 Aug 15];5:77-82. Available from: http://www.bldeujournalhs.in/text.asp?2020/5/1/77/283088



Down syndrome (DS) is a congenital autosomal disorder characterized by central growth deficiency with delayed mental and physical development.[1],[2] The mental retardation in majority of individuals with DS ranges from mild-to-severe degree.

DS occurs in approximately 1 in 732 infants in the United States, whereas in the United Kingdom, the overall prevalence of DS is 1.08/1000 live births from 1985 to 2004 and 1-year survival of live births with DS has increased, especially in babies with cardiovascular malformations, reaching almost 100%.[3],[4]

There are three types of DS, although there chromosomal differences are noted in the three genotypes, clinical manifestations are same.

Trisomy 21 (94%)

The extra 21 chromosome (three instead of the usual two) produces a complement of 47 chromosomes. Trisomy 21 is also called as Trisomy G.

Translocation (5%)

A segment of a 21 chromosome is found attached to other pairs of chromosomes (usually #14, thus referred to as a 14/21 translocation). These individuals have the normal complement of 46 chromosomes.

Mosaicism (1%)

Nondisjunction occurs at a later stage of cell division; therefore, some cells have the normal complement of 46 chromosomes and other cells 47 chromosomes (with an extra 21 chromosome).

DS individuals have greater risk of many systemic conditions such as epilepsy, diabetes, leukemia, and hypothryoidism. Persons with DS are also susceptible to upper respiratory tract and chest infections. Approximately 50% have some forms of heart defect, usually ventricular septal defect; some may require antibiotic cover for invasive dental treatment. Alzheimer's disease is a problem in later life of DS individuals.[5] Now a days, because of advance in medical field, the mean survival of individuals with DS has increased considerably. In developed countries, the average life span for DS population is 55 years.[6],[7] Hence, dentist should able to diagnose the oral manifestations in DS patients and improve the quality of life of these individuals.

With this background, the present study was designed to assess the perioral features of DS patients, to assess the oral soft-tissue and hard-tissue findings of DS patients and to compare the age-wise and gender-wise distribution of these findings.


  Materials and Methods Top


The Institutional ethical clearance was obtained from Krishna Institute of Medical sciences (Deemed to be university), Karad, Maharashtra, India. This descriptive study was conducted between May 2018 and June 2018 which included 100 children with DS. Children with DS were recruited from special schools from the Western part of Maharashtra. All the children had been previously examined and diagnosed medically as DS patients based on karotyping results according to the institute's medical records. The inclusion criteria considered were as follows: (1) cytogenetic diagnosis of trisomy 21, DS based on medical records of patients, (2) adequate cooperative children, and (3) approved consent from the children's parents or school authorities before enrolling them in the study. The exclusion criteria were the presence of patients with severe systemic diseases, compound disability, and extremely uncooperative children.

The clinical examination was conducted by a single Oral Medicine specialist using mouth mirror, torch, and wooden ice cream sticks. Demographic data such as age and gender were recorded in predesigned pro forma. All the patients in our study were only trisomy 21 cases. Patients were divided into two groups, Group I (8–12 years) and Group II (13–16 years). The frequency and percentage distribution of oral and perioral features were assessed and compared between the gender and the two groups [Figure 1], [Figure 2], [Figure 3].
Figure 1: Extraoral picture showing incompetent lips and everted lower lip

Click here to view
Figure 2: Picture showing macroglossia with fissuring and mild angular cheilitis

Click here to view
Figure 3: Intraoral picture showing microdontia with 31 and 41

Click here to view



  Results Top


Out of 100 patients, Group I consisted of 60 patients (38 male patients and 22 female patients) aged between 8-12 years, whereas group II consists of 40 patients (25 male patients and 15 female patients) aged between 13-16 years [Table 1]. There were 63 males and 37 females in our study group.
Table 1: Total sample distribution

Click here to view


Gender wise comparison of perioral and oral soft tissue anomalies showed fissured tongue as the most common anomaly (73%) and chapped lips (21%) as least common anomaly [Table 2].
Table 2: Genderwise comparison of perioral and oral soft tissue anomalies

Click here to view


Gender wise comparison of dental anomalies showed constricted palate (59%) as most common anomaly and hypoplasia as least common anomaly (10%) [Table 3].
Table 3: Gender wise comparison of dental anomalies

Click here to view


Gender wise comparison of occlusion abnormalities showed Angles class III malocclusion as most common anomaly accounted for 49% of cases followed by malalignment of teeth, anterior cross bite, anterior open bite, posterior cross bite, attrition and wearing of teeth [Table 4].
Table 4: Genderwise comparison of occlusion abnormalities

Click here to view


Age wise comparison of oral soft tissue features showed fissured tongue in 87.5% of cases of group II patients when compared with group I patients which constituted for 63.3% of cases. Other features like everted lips, chapped lower lips, angular chelitis, macroglossia, protruded tongue and incompetent lips were increased with the advancing age of the patients [Table 5].
Table 5: Agewise comparsion of oral soft tissue features

Click here to view


Age wise comparison of oral hard tissue dental anomalies showed severe increase in percentage of constricted palate (90%) in group II cases when compared with group I cases (38.3%) [Table 6].
Table 6: Agewise comparsion of oral hard tissue dental anomalies

Click here to view


Age wise comparison of occlusion abnormalities showed increase in anterior open bite, anterior cross bite, posterior crossbite, Angles class III malocclusion, malalignment and attrition of teeth in group II cases when compared with group I cases [Table 7].
Table 7: Agewise comparison of occlusion abnormalities

Click here to view



  Discussion Top


DS is also called as Trisomy 21, Trisomy G or Mongolism. In 1838, Esquirolfirst described a child who probably had DS. In 1866, John H. Langdon Down described features of this syndrome.[1] In 1959, Jerome LeJeune and Patricia Jacobs determined that DS was caused by Trisomy of 21 chromosome.

The condition is more frequent in children born to older mothers, particularly those aged over 35 years, but where the mother is young there may be an inherited translocation of one of the pairs of chromosome 21. This then may become a third in the offspring, resulting in DS. It is important to identify those families with inherited translocation where counseling on family planning and chromosome examination at initial stage of pregnancy is possible to avoid future complications.

Individuals with DS have short stature with a short neck; the head is brachecephalyic and flat broad nasal bridge with deviation of nasal septum leading to narrow air passage. Ears are low set and ears with flat or absent helix in 54% of cases are noted. Eye malformations include epicanthal folds with slanting almond-shaped eyes in 78% of cases, which is responsible for mongoloid term. Other facial features include the lack of supraorbital ridges with the absence of frontal sinuses and maxillary sinuses.

Clinically, DS is characterized by generalized hypotonia, neurological changes, structural cardiopathy, respiratory problems, and a greater risk of infection, increased risk of leukemia, dental anomalies, and orofacial dysmorphology.[8]

Common orofacial findings in DS include protruded tongue, mouth breathing, open bite, crowding, anterior crossbite, drooling, fissured tongue, malocclusion, low level of dental caries, and poor oral hygiene.[9],[10],[11]

Gender-wise distribution of DS patients in our study showed majority of males accounting for 63% followed by females accounting for 37%. Studies done by Al-Maweri et al. in Saudi Arabia and Asokan et al. in the Chennai population showed 62% and 55.8% of males and 38% and 44.1% of females, respectively.[12],[13]

Oral and perioral soft tissue anomalies

Fissured tongue was the most common oral soft-tissue anomaly present in DS patients accounting for 73% of cases and gender-wise comparison showed about 80% of fissured tongue in males and 59.4% in females, Group II patients were more affected (87.5%) with fissured tongue than Group I patients (63.3%). The results of our study were in accordance with previous studies;[12],[13],[14] however, previous studies regarding the prevalence of fissured tongue in DS varies from 20% to 95%.[14],[15],[16],[17] The studies carried out by Asokan et al.[13] showed lesser percentage of fissured tongue (41.2%), whereas Rahul et al.[17] and Al-Maweri et al.[12] studies showed slightly higher percentage of fissured tongue than our study (78.6% and 78%), respectively. These differences may be due to differences in populations.

Everted lower lip was the second most anomaly present in 61% of our cases, the results of our study were in accordance with Al Maweri and Asokan et al. studies.[12],[13]

Macroglossia was the third-most common anomaly present in our study which accounts for 53% of our cases the results of our study showed slightly lower percentage than the previous study.[13] Previous studies revealed that the tongue size does not vary significantly from the general population. Due to small size of oral cavity tongue looks macroglossic.

Angular cheilitis accounted for 51% of our cases. Previous studies done by Al-Maweri et al. compared lip and oral lesions between control and Down's syndrome patients showed 38% of angular cheilitis lesions.[12] Increased incidence of angular cheilitis in this study may be caused by Candida albicans as a result of drooling and immune defects in these children.

Incompetent lips were present in 48% of our cases, whereas studies done by Asokan et al. showed very less percentage of lip incompetence which might be due to change in population.[13] Lip incompetentce increased with increase in the age of patients. Protuded tongue was noted in 45% of our study. The results of our study were in accordance with Asokan et al. study.[13]

Dental anomalies

Dental anomalies occur commonly in primary teeth and permanent teeth. The incidence of dental anomalies is five times greater in DS individuals than in the general population.[18] Abnormalities such as reduced size and number of teeth, and delayed eruption of teeth are common features of this syndrome.

The constricted palate was the most common anomaly present in our study accounting for 59% of our cases, gender-wise comparison showed higher percentage of constricted palate in females. Age-wise comparison showed group II patients had more constricted palate (90%) than Group I patients (38.3%). Constricted palate is due to deficient maxillary growth.

Spacing between teeth was present in 19% of our cases, the results were in accordance with Asokan et al. studies.[13] Spacing might be due to hypodontia of teeth and reduced size of teeth.

Delayed eruption of primary and permanent teeth are more common in DS patients. Delayed eruption of permanent teeth was noted in 21% of our cases and delay was the most common in females about 24.3% than the males 19%. A study conducted by Asokan et al. showed between the age group of 1–15 years showed about 27.5% of cases of delay and delay was more common in boys (31.6%) than in girls (22.2%).[13]

Microdontia was present in 15% of our cases and was more in females accounted for 16.2% than in males 14.3%. The results were in accordance with Asokan et al. studies.[13] Individuals with DS present with generalized microdontia in permanent dentition, but in primary dentition, it is not well documented. Clinically, crowns are short and small. According to Bell et al., microdontia is due to reduction in the thickness of enamel and dentin.[19]

Partial anodontia was present in 11% of our cases, whereas results were contradictory to Kumasaka et al.'s study conducted in the Japanese population and Acerbi et al.'s study conducted in the Brazilian population where they reported about 60%–63% of DS individuals with one or more missing teeth.[20],[21]

Occlusion abnormalities

Malocclusion is a common finding in DS individuals which is due to spacing in teeth, anterior openbite, mouth breathing, developmental disturbances of the maxilla and mandible. Malalignment was 43% noted in our study, the results of our study were in accordance with Asokan et al. study.[13]

Angles Class III malocclusion was the most common occlusion abnormality present in our study accounting for 49%. Gender-wise comparison showed more percentage in males about 50%. The higher incidence of Class III malocclusion is due to the underdevelopment of the midface and not to prognathism. The results of our study were higher than the Cohen and Winer study who showed 30% of Angles Class III malocclusion.[22] Angles Class III was more common in males and in Group II patients. The study conducted by Oredugba in Nigerian individuals showed 47% of Class III and 51% of Class I malocclusion in DS individuals.[8] Musich also noted that Class III is more frequent in DS individuals.[23]

The prevalence of anterior crossbite was 41% and was more in females about 43.2% than in males 39.6% and was more in Group II patients when compared with Group I patients in our study which was similar to Asokan et al.'s study.[13] Posterior crossbite accounted for 24% in our study, and it was more in Group II patients than Group I patients and higher incidence was noted in males 28.5% than in females 16.2%.

Anterior open bite has been observed in 32% of our cases, 33.3% in males and 29.7% in females. Anterior open bite was more noted in Group II patients than Group I. The etiological factors associated with open bite are deficient maxillary growth accompanied by tongue thrust. This may result in an anterior open bite. There is often lack of lip seal and these factors may produce proclination of the mandibular incisors, accentuating the reversed incisor relationship.

The diagnosis of DS is arrived through screening as routine prenatal care. Various screening methods like advanced maternal age, multiple second-trimester serum markers and second-trimester ultrasonography are used for dignosis. Thickening of the neck area was thefirst reported marker associated with DS.[24]


  Conclusion Top


Based on the results of our study, majority of Down's syndrome patients were males and showed fissured tongue, everted lower lip, macroglossia, spacing, delayed eruption of permanent teeth as the most common oral manifestations and the occlusion abnormalities increased with the age of Down's syndrome patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Surabian SR. Developmental disabilities and understanding the needs of patients with mental retardation and Down syndrome. J Calif Dent Assoc 2001;29:415-23.  Back to cited text no. 1
    
2.
Desai SS, Fayatteville NY. Down syndrome: A review of the literature. Oral Surg Oral Med Oral Pathol Oral Endod 1997;84:279-85.  Back to cited text no. 2
    
3.
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev 2007;13:221-7.  Back to cited text no. 3
    
4.
Irving C, Basu A, Richmond S, Burn J, Wren C. Twenty-year trends in prevalence and survival of Down syndrome. Eur J Hum Genet 2008;16:1336-40.  Back to cited text no. 4
    
5.
Pilcher ES. Treating the patient with Down syndrome. J Contemp Dent Pract 2001;2:58.  Back to cited text no. 5
    
6.
Morris JK, Wald NJ, Watt HC. Fetal loss in Down syndrome pregnancies. Prenat Diagn 1999;19:142-5.  Back to cited text no. 6
    
7.
Glasson EJ, Sullivan SG, Hussain R, Petterson BA, Montgomery PD, Bittles AH. The changing survival profile of people with Down's syndrome: Implications for genetic counselling. Clin Genet 2002;62:390-3.  Back to cited text no. 7
    
8.
Oredugba FA. Oral health condition and treatment needs of a group of Nigerian individuals with Down syndrome. Downs Syndr Res Pract 2007;12:72-6.  Back to cited text no. 8
    
9.
Macho V, Coelho A, Areias C, Macedo P, Andrade D. Craniofacial features and specific oral characteristics of Down syndrome children. Oral Health Dent Manage 2014;13:408-11.  Back to cited text no. 9
    
10.
Scully C, van Bruggen W, Diz Dios P, Casal B, Porter S, Davison MF. Down syndrome: Lip lesions (angular stomatitis and fissures) and Candida albicans. Br J Dermatol 2002;147:37-40.  Back to cited text no. 10
    
11.
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;4:82-6.  Back to cited text no. 11
    
12.
Al-Maweri SA, Tarakji B, Al-Sufyani GA, Al-Shamiri HM, Gazal G. Lip and oral lesions in children with Down syndrome. A controlled study. J Clin Exp Dent 2015;7:e284-8.  Back to cited text no. 12
    
13.
Asokan S, Muthu MS, Sivakumar N. Oral findings of Down syndrome children in Chennai city, India. Indian J Dent Res 2008;19:230-5.  Back to cited text no. 13
[PUBMED]  [Full text]  
14.
Bilgili SG, Akdeniz N, Karadag AS, Akbayram S, Calka O, Ozkol HU. Mucocutaneous disorders in children with Down syndrome: Case-controlled study. Genet Couns 2011;22:385-92.  Back to cited text no. 14
    
15.
Barankin B, Guenther L. Dermatological manifestations of Down's syndrome. J Cutan Med Surg 2001;5:289-93.  Back to cited text no. 15
    
16.
Daneshpazhooh M, Nazemi, TM, Bigdeloo L, Yoosefi M. Mucocutaneous findings in 100 children with Down syndrome. Pediatr Dermatol 2007;24:317-20.  Back to cited text no. 16
    
17.
Rahul VK, Mathew C, Jose S, Thomas G, Noushad MC, Feroz TP. Oral manifestation in mentally challenged children. J Int Oral Health 2015;7:37-41.  Back to cited text no. 17
    
18.
de Moraes ME, de Moraes LC, Dotto GN, Dotto PP, dos Santos LR. Dental anomalies in patients with Down syndrome. Braz Dent J 2007;18:346-50.  Back to cited text no. 18
    
19.
Bell E, Townsend G, Wilson D, Kieser J, Hughes T. Effect of Down syndrome on the dimensions of dental crowns and tissues. Am J Hum Biol 2001;13:690-8.  Back to cited text no. 19
    
20.
Kumasaka S, Miyagi A, Sakai N, Shindo J, Kashima I. Oligodontia: A radiographic comparison of subjects with Down syndrome and normal subjects. Spec Care Dentist 1997;17:137-41.  Back to cited text no. 20
    
21.
Acerbi AG, de Freitas C, de Magalhães MH. Prevalence of numeric anomalies in the permanent dentition of patients with Down syndrome. Spec Care Dentist 2001;21:75-8.  Back to cited text no. 21
    
22.
Cohen MM, Winer RA. Dental and facial characteristics in downs syndrome. J Dent Res 1965;44:197-209.  Back to cited text no. 22
    
23.
Musich DR. Orthodontic intervention and patients with Down syndrome. Angle Orthod 2006;76:734-5.  Back to cited text no. 23
    
24.
Wilson RD, Poon LC, Ghidini A. Current controversies in prenatal diagnosis 3: Is there still a value in a nuchal translucency screening ultrasound in conjunction with maternal plasma non-invasive cell-free DNA testing? Prenat Diagn 2016;36:20-4.  Back to cited text no. 24
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

  [Table 1], [Table 2], [Table 3], [Table 4], [Table 5], [Table 6], [Table 7]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

  Materials and Me...
  In this article
Abstract
Results
Discussion
Conclusion
References
Article Figures
Article Tables

 Article Access Statistics
    Viewed128    
    Printed19    
    Emailed0    
    PDF Downloaded34    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]