Down syndrome as a cause of abnormalities in the craniofacial region: A systematic literature review

Abstract

Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.

A home‐based multidisciplinary programme for Down syndrome adults with muscular temporomandibular disorder

“…Parafunctional behaviours may vary considerably and seem to be significant predictors for the onset of TMD 6 as they overload the joint and masticatory muscles 13 . Particularly in DS patients, parafunctional characteristics are thought to develop from the combination of craniofacial alterations with retarded psychosomatic development 4 . A Brazilian study reported that 77.5% of DS patients suffering from TMD had at least one parafunctional behaviour, with an overall prevalence rate of 1.65% 9 .…”

“…Down syndrome patients may develop oral conditions that directly affect their systemic and oral health as well as their ability to interact socially 3 . Together with a retarded psychosomatic development, these issues may trigger the development of parafunctions and dysfunctions in these patients 4 …”

Fibronectin: Molecular Structure, Fibrillar Structure, and Mechanochemical Signaling

“…EDA-containing FN isoforms (EDA+ FN) play roles in migration, differentiation, signaling, adult wound healing and overall tissue health, with contesting beliefs on its role in fetal development [26,28]. EDA+ FN has increased binding affinity for integrins α 4 β 1 , α 9 β 1 , possibly α 4 β 7 , and RGD-associated α 5 β 1 , which enhances cell motility, proliferation and transformation in osteoblasts and fibroblasts [26,29].…”

“…EDA+ FN has increased binding affinity for integrins α 4 β 1 , α 9 β 1 , possibly α 4 β 7 , and RGD-associated α 5 β 1 , which enhances cell motility, proliferation and transformation in osteoblasts and fibroblasts [26,29]. EDA also associates with Tolllike receptor 4 (TLR4) to generate inflammatory responses in the innate immune system (amnion cells); increased metalloproteinase (MMP) activity, cyclooxygenase 2 (COX2) expression, and prostaglandin E2 expression via the NF-κB and ERK1/2 pathways; and cytokine activity through the p38 and MK-2 pathways [28]. Murine studies have shown differential expression of EDA+ FN across injuries, from the wound site through the surrounding muscle into the dermis [30].…”

The Electrical Activity of the Orbicularis Oris Muscle in Children with Down Syndrome—A Preliminary Study

“…Common oral features in patients with DS include the delayed eruption of deciduous and permanent dentition, an open bite or crossbite, Class III malocclusion, hypodontia, microdontia, macroglossia, and reduced oral cavity providing oral breathing and salivary leak. DS individuals usually present with poor oral hygiene and periodontitis [ 5 , 7 , 8 ].…”