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CHANGES FROM NORMALITY IN PATIENTS WITH DOWN SYNDROME:
AN INTEGRATIVE LITERATURE REVIEW
Anne Caroline Ribeiro Lacerda1
Antonio Pedro Silva Pires2
Júlio César Ferreira Gomes3
Letícia Gama de Oliveira Muniz4
Ilana Suammi Lima de Carvalho5
Jamilly Carvalho Rodrigues6
Mariana de Araújo Machado Borges7
Nicole Rodrigues Silva8
Thawan Roberio Gomes Pereira de Souza9
Malvina de Souza Pereira10
1 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
2 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
3 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
4 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
5 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
6 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
7 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
8 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
9 Undergraduate in Dentistry from the Sovereign Faculty of Health of Petrolina, 56308-000,
Petrolina – PE, Brazil.
10 Master in Pediatric Dentistry from São Leopoldo Mandic– 13045-755, Campinas – SP, Brazil.
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Abstract: Patients with Down syndrome commonly exhibit deviations from physiological patterns,
which may result from genetic, behavioral and environmental factors, leading to dental anomalies,
delayed tooth eruption, malocclusions, increased predisposition to dental caries, tooth sensitivity and
the presence of ssured tongue. This study aims to gather and synthesize evidence on changes in
normality in patients with Down syndrome, providing a comprehensive understanding of the subject.
To develop this integrative literature review, the following databases were used: U.S. National
Library of Medicine (Pubmed), Virtual Health Library (BVS) and Scientic Electronic Library
Online (Scielo), including articles and papers that deal with the presented theme published in the
last 10 years, in Portuguese, English and Spanish, that addressed the proposed theme. The studies
analyzed demonstrate that individuals with this condition present oral alterations that compromise
both masticatory function and aesthetics, thus requiring detailed dental planning, with a focus on
functional rehabilitation and improving self-esteem. Thus, understanding these changes becomes
essential to ensure adequate management and treatment by health professionals, especially dentists,
since hygiene difculties, dental problems and a greater predisposition to periodontal diseases are
present in this population.
Keywords: Down syndrome; oral manifestations; malocclusions.
INTRODUCTION
Down Syndrome (DS) is a genetic condition caused by trisomy 21, being the most common
chromosomal alteration in humans. Individuals with DS exhibit a set of particular phenotypic
characteristics that include differences in physical, cognitive, and metabolic development. In addition,
the syndrome is often associated with various health conditions, such as congenital heart malformations,
endocrine disorders, immunodeciencies, and delayed neuropsychomotor development. (TAVARES,
2022)
One of the most relevant issues in the clinical approach to Down Syndrome is the existence of
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changes in what is considered normal for individuals without the condition. Physiological parameters,
growth patterns, motor and cognitive development, as well as immune and metabolic responses, can
differ signicantly compared to the general population. These variations require careful analysis to
avoid misdiagnoses and to ensure adequate and individualized medical follow-up. (VILELA, 2018)
The dental surgeon is responsible for each individualized treatment, recognizing the difculty
of each one and correcting irregularities in the oral cavity. Patients with Down syndrome often have
changes in oral normalities, which may include changes in the anatomy of the oral cavity, hygiene
difculties, dental problems, and a greater predisposition to periodontal diseases. These changes
are consequences of both genetic factors and behavioral and physiological aspects specic to this
population. (PELISSON, 2023)
Thus, understanding the changes in normality in patients with DS is essential to optimize
health care and improve the quality of life of these individuals. This article aims to review the literature
on the main alterations observed in the oral cavity of these patients, such as: tooth absence, changes in
enamel and tooth shape, analyzing their dental implications.
METHODOLOGICAL PROCEDURES
This research is an integrative literature review, which aims to gather and synthesize evidence
on changes in normality in patients with Down Syndrome, providing a comprehensive understanding
of the subject. Searches were carried out in the following databases: U.S. National Library of Medicine
(Pubmed), Virtual Health Library (VHL) and Scientic Electronic Library Online (Scielo), using the
following descriptors: “Down Syndrome”, “Oral Manifestations” and “Malocclusion” combined with
the Boolean operator AND.
For the results, the following inclusion criteria were adopted: articles published in the last
10 years (2015 to May 2025), available in Portuguese, English or Spanish, and works that deal with
the theme presented. The exclusion criteria adopted were: incomplete works, published before 2015,
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duplicate articles, monographs, and studies that did not meet the eligibility criteria.
FINDINGS
Title Authors and year Goal Methodology/ Key ndings
Oral Alterations in
Patients with Down
Syndrome: Literature
Review
Melo ACFT de. (2022)
To verify information,
through a literature review,
about patients with Down
Syndrome, ranging from oral
characteristics that inuence
dental treatment to genetic
alterations.
The dental surgeon must
consider two important aspects
when treating patients with
Down Syndrome: rst, the need
for a psychologically favorable
environment for care; second,
the importance of understanding
the patient’s systemic conditions
so as not to compromise
homeostasis.
Oral Characteristics
and Performance of the
Dental Surgeon in the
Care of Patients with
Down Syndrome.
Vilela JMV, Nascimento
MG, Nunes J, Ribeiro.
(2018)
To review the literature
in order to describe and
characterize the conditions
that most affect patients with
this syndrome.
Patients with this syndrome
have a higher prevalence of
periodontal disease than normal
patients, on the other hand, they
have a low prevalence of caries,
lled and missing teeth.
Oral Alterations in
Patients with Down
Syndrome
Pelisson KAM, Borges
TS, Villibor FF. (2023)
Demonstrate the main oral
alterations found in people
with DS.
Down syndrome (DS) is a genetic
alteration that inuences the
individual’s life
because it affects their
development, and can cause
systemic and cognitive changes.
Down syndrome. Nature
Reviews Disease Primers.
Antonarakis, S. E. et al
(2020).
Integrate the current
knowledge about Down
syndrome (DS), addressing
from genetic aspects to
clinical manifestations, the
use of experimental models
and therapeutic perspectives.
The article also highlights
recent advances in research
aimed at identifying therapeutic
interventions capable of
improving cognitive function and
quality of life in people with DS,
with some clinical trials already
underway.
Oral health in children
with Down syndrome:
Parents’ views on dental
care in Flanders.
Descamps, I., and Marks,
L. A. (2015).
To evaluate the opinions and
knowledge regarding dental
care of parents who have a
child with Down syndrome
(DS).
explores parents’ perceptions of
the oral health of their children
with Down syndrome and the
dental care they receive in the
Flanders region, Belgium.
Impact of oral conditions
of children/adolescents
with Down syndrome on
their families’ quality of
life.
Carrada, C. F., Scalioni,
F. A. R., Abreu, L. G.,
Ribeiro, R. A., Paiva, S.
M. (2020).
to evaluate the impact of
oral conditions of children
and adolescents with Down
syndrome (DS) on oral health-
related quality of life.
Although the overall impact of
oral conditions on the quality
of life of families did not
differ between groups, certain
specic oral conditions in
children and adolescents with
DS are associated with a worse
perception of oral health-related
quality of life by their family
members.
Oral characteristics and
the role of the dental
surgeon in the care of
patients with Down
syndrome.
Vilela JMV, Nascimento
MG, Nunes J, Ribeiro EL.
(2018)
to review the main oral
characteristics of individuals
with Down syndrome and
discuss the role of the dental
surgeon in the care of these
patients.
Factors such as plaque, dental
calculus, malocclusion, and
immune deciency contribute to
the development of periodontal
diseases.
Down syndrome:
inclusion in municipal
dental care.
Nacamura CA, Yamashita
JC, Busch RMC, Marta
SN. (2015)
OBJECTIVE: To analyze the
factors related to the dental
care received by children
and adolescents with Down
syndrome (DS) in the city of
Bauru, São Paulo.
The study highlights the need for
integrated and multidisciplinary
care, involving different dental
specialties to promote the
effective inclusion of these
patients in municipal oral health
services.
Oral health problems
and their management
in patients with Down
Syndrome—a narrative
review.
Torlińska-Walkowiak, N.,
Huang, Y. W., Wyzga,
S., Opydo-Szymaczek, J.
(2024).
consolidate information on
the dental challenges faced by
individuals with DS, as well
as the approaches employed
for the care and treatment of
these conditions.
The study emphasizes the
importance of regular dental
evaluations, early interventions
such as physical therapy and
behavioral management, and a
collaborative approach involving
oral health professionals,
caregivers, and individuals with
DS themselves.
Dental care for the patient
with Down syndrome.
Pilcher, E. (1998). to highlight the orofacial
and medical particularities
associated with DS that
directly inuence the planning
and delivery of dental care.
emphasizes the high incidence
of periodontal disease in
individuals with DS, often
associated with factors such as
muscle hypotonia, chronic mouth
breathing, immunodeciency,
and ineffective oral hygiene.
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Impact of oral conditions
of children/adolescents
with Down syndrome on
their families’ quality of
life.
Carrada, C. F., Scalioni,
F. A. R., Abreu, L. G.,
Ribeiro, R. A., Paiva, S.
M. (2020).
to evaluate the impact of
oral conditions of children
and adolescents with Down
syndrome (DS) on oral health-
related quality of life.
Although the overall impact of
oral conditions on the quality
of life of families did not
differ between groups, certain
specic oral conditions in
children and adolescents with
DS are associated with a worse
perception of oral health-related
quality of life by their family
members.
Oral characteristics and
the role of the dental
surgeon in the care of
patients with Down
syndrome.
Vilela JMV, Nascimento
MG, Nunes J, Ribeiro EL.
(2018)
to review the main oral
characteristics of individuals
with Down syndrome and
discuss the role of the dental
surgeon in the care of these
patients.
Factors such as plaque, dental
calculus, malocclusion, and
immune deciency contribute to
the development of periodontal
diseases.
Down syndrome:
inclusion in municipal
dental care.
Nacamura CA, Yamashita
JC, Busch RMC, Marta
SN. (2015)
OBJECTIVE: To analyze the
factors related to the dental
care received by children
and adolescents with Down
syndrome (DS) in the city of
Bauru, São Paulo.
The study highlights the need for
integrated and multidisciplinary
care, involving different dental
specialties to promote the
effective inclusion of these
patients in municipal oral health
services.
Oral health problems
and their management
in patients with Down
Syndrome—a narrative
review.
Torlińska-Walkowiak, N.,
Huang, Y. W., Wyzga,
S., Opydo-Szymaczek, J.
(2024).
consolidate information on
the dental challenges faced by
individuals with DS, as well
as the approaches employed
for the care and treatment of
these conditions.
The study emphasizes the
importance of regular dental
evaluations, early interventions
such as physical therapy and
behavioral management, and a
collaborative approach involving
oral health professionals,
caregivers, and individuals with
DS themselves.
Dental care for the patient
with Down syndrome.
Pilcher, E. (1998). to highlight the orofacial
and medical particularities
associated with DS that
directly inuence the planning
and delivery of dental care.
emphasizes the high incidence
of periodontal disease in
individuals with DS, often
associated with factors such as
muscle hypotonia, chronic mouth
breathing, immunodeciency,
and ineffective oral hygiene.
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DISCUSSION
Down syndrome is a change in genetic condition caused by the presence of an extra copy
of chromosome 21, which results in a total of 47 chromosomes instead of the usual 46. This affects
a person’s physical and intellectual development. People with Down syndrome may have distinct
physical characteristics, such as a shorter neck and greater exibility in the joints and almond-shaped
eyes. In addition, they may have slower cognitive development. (ANTONARAKIS, ET AL. 2020)
Analyzing the oral prole of patients with Down Syndrome, we observed that the most
frequent clinical alterations found are: irregular anatomy of the teeth; delayed tooth eruption, often
caused by altered bone development; malocclusion, such as anterior open bite (when associated with
a deleterious habit) or crossbite; dental agenesis, especially of permanent teeth, which can affect
aesthetics and chewing; enamel hypoplasia, where there is a decrease in the amount of enamel, a
condition that favors the appearance of caries disease and greater predisposition to tooth sensitivity.
(DESCAMPS, MARKS. 2015) These changes may be associated with genetic and environmental
factors.
In this way, the role of the dental surgeon during the care of SD patients goes far beyond
prevention. It is necessary for your treatment plan to contain the analysis of the facial prole,
craniofacial measurements, symmetry and aesthetics as a whole, taking care that the anomalies are
corrected so that the patient’s self-esteem can be repaired. (CARRADA, ET AL. 2020)
Other common characteristics are a ssured tongue, favoring the accumulation of food
in the ssures; macroglossia, change in the size of the tongue that can affect speech, chewing and
swallowing; periodontitis associated with poor oral hygiene, which increases the risk of oral infections,
and muscle hypotonia, a decrease in muscle tone that can cause weakness. (VILELA, ET AL. 2018;
NACAMURA, ET AL. 2015)
In addition, patients with DS may present motor, behavioral, cognitive and other signicant
systemic characteristics, which challenges the work of the professionals who follow them up, and
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multidisciplinary care is essential so that the patient has the opportunity to have a holistic and trained
care that corresponds to their specicities. (TORLIŃSKA-WALKOWIAK, ET AL. 2024)
Finally, the oral conditions found in DS patients can substantially affect their quality of life,
requiring an attentive, early and individualized look from doctors, dentists and health professionals
as a whole, in addition to periodic interventions and preventions, in order to offer care and attention
effectively. (PILCHER, 1988)
FINAL CONSIDERATIONS
Down Syndrome presents a series of systemic and oral alterations that require extra attention
from health professionals, especially dentists. Changes in the oral cavity, such as dental agenesis,
enamel hypoplasia, malocclusions, macroglossia, and predisposition to periodontal disease, reect
not only genetic characteristics, but also the behavioral and physiological challenges of these patients.
Understanding these specicities is essential for planning a humanized, effective treatment
adapted to individual needs. The dentist’s performance must go beyond the technical aspect, involving
an empathetic and multidisciplinary approach that favors the promotion of oral health and quality
of life. Therefore, it is essential to continuously invest in professional training and inclusive public
policies, ensuring full access to dental care for this population.
REFERENCES
Tavares C. ORAL ALTERATIONS IN PATIENTS WITH DOWN SYNDROME: A LITERATURE
REVIEW [Internet]. Repository of Course Completion Papers. 2022 [cited 2025 Mar 17]. Available
from: https://pensaracademico.unifacig.edu.br/index.php/repositoriotcc/article/view/3644
Vilela, Jaynne. ORAL CHARACTERISTICS AND PERFORMANCE OF THE DENTAL
SURGEON IN THE CARE OF PATIENTS WITH DOWN SYNDROME. Cadernos da graduação
(ciências biológicas e da saúde). 2018 https://periodicosgrupotiradentes.emnuvens.com.br/unitsaude/
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Pelisson, Kayna. ORAL ALTERATIONS IN PATIENTS WITH DOWN SYNDROME. Facit
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ANTONARAKIS, S. E. et al. Down syndrome. Nature Reviews Disease Primers, v. 6, n. 1, 6 fev.
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Nacamura CA, Yamashita JC, Busch RMC, Marta SN. Down syndrome: inclusion in municipal dental
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