Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome.

BACKGROUND: Down syndrome (DS), a common chromosomal anomaly caused by trisomy of chromosome 21, is characterized by a broad spectrum of phenotypic characteristics across multiple organ systems, including cardiac defects and leukemia. Dermatological findings are prevalent among individuals with DS; however, these issues are frequently underrecognized and inadequately researched, resulting in a significant gap in the provision of comprehensive healthcare strategies. Given the increased life expectancy of patients with DS and delayed manifestation of many dermatoses, physicians are increasingly encountering dermatological findings in this population. OBJECTIVE: This study aimed to assess the prevalence and types of dermatological findings in individuals with DS, compare them with those in a control group, and emphasize the necessity of incorporating dermatological evaluations into routine health monitoring. METHODS: This prospective cross-sectional study was conducted from June 2023 to June 2024 and involved 100 genetically confirmed individuals with DS and 100 age- and sex-matched controls. Comprehensive demographic, clinical, and karyotype data were collected for the DS group, and all the participants underwent detailed morphological evaluations. RESULTS: The DS group had a mean age of approximately 6.37 years, whereas the controls were around 7 years old, with no significant differences in age or sex distribution between the groups. Karyotype analysis showed that trisomy 21 was present in 92% of the cases, mosaicism in 6%, and translocation in 2%. Common dermatological findings in the DS group included xerosis cutis (49%), thin and sparse hair (48%), dental caries (34%), delayed tooth eruption (28%), nail dystrophy (25%), fissured tongue (23%), and cheilitis (18%). Significant differences were noted in the prevalence of scabies, bacterial infections, and café au lait macules between the DS and control groups (p < 0.01). Dysmorphic findings in the DS group included epicanthal folds (97%), upslanted palpebral fissures (97%), brachycephaly (91%), and single transverse palmar crease (89%). Significant gender differences were noted in the prevalence of brachycephaly and the sandal gap (p < 0.01). CONCLUSIONS: This study highlights the importance of regular dermatological care in enhancing the health management and quality of life of individuals with DS due to the prevalence and variability of dermatological conditions.

Periodontal disease in down syndrome: Predisposing factors and potential non-surgical therapeutic approaches.

BACKGROUND: Periodontal diseases (PDs) have been documented to be significantly more prevalent and severe in patients with Down syndrome (DS). Different immunological and microbiological factors contributed to predisposing these patients to progressive and recurrent PDs. AIM: The aim of this review was to investigate the altered immunological responses and oral microbiota disorders as well as focus on adjunctive non-surgical methods for the treatment of PDs and its applicability in patients with DS. MATERIAL AND METHODS: A literature review was conducted addressing the following topics: (1) the altered immunological responses, (2) orofacial disorders related to DS patients, (3) oral microbiota changing, and (4) adjunctive non-surgical treatment and its efficacy in patients with DS. RESULTS: Due to the early onset of PDs in children with DS, the need for prompt and effective treatment in these patients is essential. DISCUSSION AND CONCLUSION: So, investigating underlying factors may open a new window to better understand the pathology of PDs in DS people and thus, find better strategies for treatment in such group. Although non-surgical treatments such as photodynamic therapy and probiotic consumption represented acceptable outcomes in different examined patients without DS, data about the application of these convenience and no need for local anesthesia methods in patients with DS is limited.

Cytokine levels in the gingival crevicular fluid and their association with periodontal status of down syndrome patients: a cross-sectional study.

OBJECTIVE: To evaluate cytokine levels of interleukin (IL)-1ß, IL-4, IL-6, IL-17a, tumor necrosis factor (TNF)-α, and interferon (IFN)-γ in the gingival crevicular fluid (GCF) of periodontal sites in individuals with Down syndrome (DS) and analyze their relationship with clinical periodontal parameters. MATERIALS AND METHODS: A cross-sectional study was conducted with 49 DS patients and 32 individuals without DS (non-DS group). Periodontal probing depth (PPD), clinical attachment level (CAL), bleeding on probing (BoP), and visible plaque index (VPI) were evaluated. The periodontal sites were classified as shallow, moderate, and deep. GCF was collected in all shallow sites and, when present, in moderate and deep sites for the analysis of cytokine levels. The cytokines, IL-1ß, IL-4, IL-6, IL-17a, TNF-α, and IFN-γ, were quantified using the Luminex® automatic analyzer system. RESULTS: The DS group presented greater severity of periodontitis compared to the non-DS group (P = 0.005). The DS group showed a significant direct correlation of IL-1ß and an inverse correlation of IFN-γ and IL-14 with all periodontal variables. In the analysis stratified by periodontal pocket depth, we observed a higher level of IFN-γ, IL-17a, IL-1ß, and IL-6 in the shallow sites, and IL-17a, IL-1ß, and IL-6 in deep pockets of DS group individuals. Multivariate models showed that higher levels of IL-1ß, IL-4, IL-6, and IL-17a were associated with Down syndrome even after adjusting for periodontal status, sex, and age. CONCLUSION: The findings suggest that people with DS have greater periodontal impairment and higher levels of cytokines in GCF, even in sites having clinical periodontal parameters similar to those of individuals without DS. These data reiterate the concept of an altered and less effective immune response in the population with DS in the face of a periodontal microbial challenge. CLINICAL RELEVANCE: Elevated periodontal inflammation burden can be observed with higher cytokine levels in the gingival crevicular fluid of people with Down syndrome, especially IL-1, IL-4, IL-6, and IL-17, regardless of the stage of periodontitis.

Orthodontic findings in adults with Trisomy 21.

OBJECTIVES: Objective of this study was to describe orthodontic findings in adults with Down's syndrome, a matter insufficiently regarded in literature. MATERIALS AND METHODS: A group of 104 adults (33.8 ± 15 years) with trisomy 21 had an orthodontic check-up in their accustomed environment. Anamnestic and dental findings completed the examination and descriptive analysis was performed using SPSS23. Relative frequencies with 95% confidence intervals were compared to the average population (SHIP-study, 2003; DMS IV, 2006). RESULTS: Among the participants 46.2% (36.3-56.2%) (SHIP 36.7%) had already undergone orthodontic treatment. In 87.5% (79.6-93%) of the patients, less than 25.6 properly functioning permanent teeth (DMS IV's mean) were found. Gingival bleeding and recessions, as well as periodontal disease, were increasingly found in older affected persons. Patients with Down's syndrome showed less crowding, e.g., maxillary incisors 28% (19.3-39%) versus 41.9% (SHIP). Frontal open bite (35.2% (25.3-46.1%) versus 3.6% (SHIP)) and frontal crossbite (40.9% (30.5-51.9%) versus 4.2% (SHIP)) were more often observed. No considerable differences in frequencies of orthodontic findings were detected in the comparison of the subgroups "18-28 years" versus ">28 years", "with" versus "without orthodontic treatment", "male" versus "female", "with" versus "without periodontal problems", or "with" versus "without orofacial disturbances". CONCLUSIONS: Within the bounds of this study, we gathered orthodontic findings in adults with trisomy 21 for the first time. In comparison to the average population, the subject group showed a greater number of complex orthodontic findings. CLINICAL RELEVANCE: These persisting dental and orofacial problems must be considered when treating patients with Down's syndrome.

Congenital atlanto-occipital dislocation in a patient with Down syndrome: a case report.

Down syndrome, also known as trisomy 21, is associated with congenital cervical spine abnormalities, including atlantoaxial instability with or without os odontoideum, atlanto-occipital instability, and hypoplasia of the atlas. Herein, we report a case of Down syndrome complicated by congenital atlanto-occipital dislocation. The patient presented with severe cervical myelopathy at 13 years of age after a 10-year follow-up. Radiography and computed tomography revealed os odontoideum protruding into the foramen magnum and congenital anterior atlanto-occipital dislocation. Additionally, a bifurcated internal occipital crest with a thinned central portion of the occipital bone was noted. Magnetic resonance imaging revealed kyphotic alignment of the spinal cord with severe compression at the foramen magnum level. As the neurological impairment was partially improved by halo vest immobilization, we performed in situ O-C2 fusion with an iliac autograft and decompression of the foramen magnum and posterior arch of C1. An improvement was observed immediately after surgery. Two years after surgery, radiography and computed tomography showed solid O-C2 segment fusion. The accumulation of similar cases is essential for determining the prognosis or optimal treatment for this rare congenital condition.

Tooth wear prevalence in individuals with Down syndrome: a systematic review.

OBJECTIVES: This systematic review investigated the prevalence of tooth wear between patients with and without Down syndrome. METHODS: Six databases (Embase, LILACS, Livivo, PubMed, Scopus and Web of Science) and grey literature (Google Scholar, OpenGrey and ProQuest) were searched until March 7, 2022. Observational studies were included to assess the differences in tooth wear prevalence and/or severity in Down syndrome and non-syndromic controls. Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) recommendations were followed. Three reviewers independently screened studies, extracted data, assessed the methodological quality (Joanna Briggs Institute) and graded the certainty of evidence through the Grading of Recommendations, Assessment, Development, Evaluation (GRADE) approach. Results were summarized through meta-analyses using a random-effects model. The protocol was registered at PROSPERO (CRD42021266997). RESULTS: Of the 1382 records identified, six cross-sectional studies were included. Individuals with Down syndrome had a higher prevalence and were more likely to have tooth wear than individuals without Down syndrome (44% × 15%; OR = 4.43; 95% CI 3.17-6.18; p < 0.00001; I2 = 8%). Also, the severity of tooth wear was higher in the Down syndrome group (n = 275) compared with the controls (n = 294). The certainty of evidence analysis was very low. CONCLUSIONS: Based on very low certainty of the evidence, patients with Down syndrome had a higher prevalence and likelihood and severity of tooth wear when compared to those without Down syndrome. CLINICAL RELEVANCE: Screening early tooth wear lesions should be carefully done in the Down syndrome population since its occurrence is remarkable compared to the general population.

Prevalence of bruxism in down syndrome patients: A systematic review and meta-analysis.

BACKGROUND: Bruxism is a parafunctional activity characterised by grinding or clenching of teeth and is a common oral health concern in individuals with down syndrome (DS). Understanding the prevalence of bruxism in this population is crucial for developing effective management strategies. This systematic review and meta-analysis is aimed to investigate the prevalence of bruxism among individuals with DS and explore its association with other oral health issues. METHODS: A comprehensive search was conducted across multiple electronic databases to identify relevant studies. Cross-sectional and observational studies were included. Data on bruxism prevalence and associated factors were extracted, and a meta-analysis was performed using both fixed-effects (FE) and random-effects (RE) models of MedCalc software. Heterogeneity among studies was assessed using I2 statistics. New Castle-Ottawa Scale was used to evaluate methodological quality of the included studies. RESULTS: Eight studies met the pre-defined inclusion criteria and were included in the analysis. Seven studies used a questionnaire to assess bruxism. The pooled proportion estimate for occurrence of DS across the included studies was found to be 0.33 (95% CI: 0.22-0.45) as per the RE model and 0.35 (95% CI: 0.31-0.450) as per FE model in the quantitative analysis. All studies exhibited good methodological quality. CONCLUSION: This systematic review and meta-analysis provide evidence of a significant prevalence of bruxism among individuals with DS. The findings highlight the association of bruxism with other oral health issues and specific chromosomal abnormalities. Comprehensive oral health assessments, including diagnostic procedures like Polysomnography, are essential for addressing the unique oral health needs of individuals with DS. Further studies are recommended with a valid tool for the diagnosis. Early interventions and management strategies need to be tailored to this population, considering the multifaceted nature of oral health concerns in individuals with DS.

Retrospective Case-Control Study Genes Related to Bone Metabolism That Justify the Condition of Periodontal Disease and Failure of Dental Implants in Patients with down Syndrome.

Down syndrome patients show success rates in dental implants much lower than those observed in the general population. This retrospective case-control study aimed to identify possible genes that are related to the regulation of inflammatory responses and bone metabolism related to periimplantitis and implant loss, as well as genes related to bone quality. This process involved using the functional analysis of the gene expression software Transcriptome Analysis Console (TAC version 4.0 Applied BiosystemsTM, Thermo Fisher Scientific, Waltham, MA, USA) and a search for possible candidate genes involved. The focus was placed on the 93 genes related to periodontitis, periimplantitis, bone loss, implant loss, and genes related to bone quality and regulators underlying the establishment and maintenance of osseointegration. Five genes showed statistically significant results (p < 0.05) in our comparison. Four of them, IL1B (p = 0.023), IL1RN (p = 0.048), BGLAP (p = 0.0372) and PTK2 (p = 0.0075) were down-regulated in the periodontal disease and implant rejection group, and only one was overexpressed: FOXO1A (p = 0.0552). The genes with statistically significant alterations described in this article determine that the group of Down syndrome patients with periodontal disease and implant failure is a group of patients genetically susceptible to suffering from both conditions together.

Oral health status and quality of life of the parental caregivers of children with Down syndrome: A case-control study.

The aim of this study was to investigate the oral health status and quality of life (QOL) of the parental caregivers of individuals with Down syndrome (DS), and to evaluate whether there is an association between these variables. The sample of this cross-sectional study was composed by parental caregivers of children with DS (CCDS) and parental caregivers of children without DS (CNDSC). Oral examination was undertaken and a questionnaire was given to participants. QOL was evaluated by WHOQOL-Bref. CCDS presented a higher number of dental prosthesis users and higher gingival bleeding index compared to CNDSC. When oral health was associated with QOL, the use of dental prosthesis was associated with physical domain and the variables having chronic disease and family income were associated with the social domain for both caregivers. The results suggest that caregivers of children with DS have similar oral health and QOL compared to caregivers of children without DS. In both caregivers, oral health status is associated with QOL.

Prevalence of Malocclusions in Down Syndrome Population: A Cross-Sectional Study.

Background and Objectives: A higher prevalence of dental malocclusion has been suggested among individuals with Down Syndrome (DS) compared to controls, although no studies to date have investigated such a difference according to age group. Therefore, the aim of this study was to compare the prevalence of dental malocclusion and other orthodontic measures between DS and non-syndromic (non-DS) individuals across three age groups of children, adolescents, and adults. Materials and Methods: This cross-sectional study was conducted on a total of 147 patients. Of those, 72 were diagnosed with DS and were divided into N = 15 children (<10 years), N = 23 adolescents (10-18 years) and N = 34 adults (>18 years). The remaining 75 patients were sex- and age-matched controls. The two groups were compared according to age group in terms of the prevalence of dental malocclusion, measures of sagittal, vertical, and transverse discrepancy, facial profile, and probable sleep bruxism with chi-square tests for proportion. Results: The DS patients consistently exhibited a higher prevalence of Class 3 malocclusion, concave profile and anterior crossbite compared to the non-DS patients, regardless of age group. The non-DS adolescents presented with a significantly higher prevalence of convex profile than the DS adolescents. The adolescent and adult DS patients most commonly presented with a maxillary transverse discrepancy and posterior crossbite compared to the non-DS controls. The DS adults had a higher prevalence of probable sleep bruxism. Conclusions: Patients with DS showed a higher prevalence of Class 3 malocclusion, concave profile and anterior crossbite compared to non-DS controls, regardless of age group. Other orthodontic measures showed a fluctuation according to the age group considered.

A Comparative Evaluation of Physical Parameters of Saliva and Correlation with Periodontal Condition in Down Syndrome Children and Healthy Controls.

AIM: The aim of this study was to assess the significance and role of physical parameters of saliva on periodontal health in children with Down syndrome (DS). MATERIALS AND METHODS: A comparative evaluation of physical parameters of saliva such as flow rate, viscosity, pH, quantity and buffering capacity, and buffer capacity was carried out using GC Saliva-Check Buffer kit and correlated with periodontal condition examined using community periodontal index of treatment needs (CPITN) in 40 DS subjects (group I) and 40 healthy controls (group II) aged 8-15 years. RESULTS: Down syndrome subjects had a low resting salivary flow rate, moderately acidic saliva, very low quantity of stimulated saliva, and low buffering capacity. On correlating salivary parameters with the periodontal condition, DS subjects with CPITN code 1 had low resting salivary flow rate, normal viscosity, moderately acidic pH, very low quantity of stimulated saliva, and low buffering capacity. Down syndrome subjects with CPITN code 2 had low resting flow rate, increased viscosity, very low quantity of stimulated saliva, low buffering capacity, and moderately acidic pH. Healthy controls with CPITN code 0 had normal resting flow rate, viscosity of saliva, quantity of stimulated saliva, buffering capacity, and moderately acidic pH. CONCLUSION: Compared to healthy controls, DS subjects showed decreased values for resting flow rate, pH, quantity of stimulated saliva, and buffering capacity. A statistically significant correlation was observed between the physical parameters of saliva and periodontal condition in DS subjects (p < 0.05). CLINICAL SIGNIFICANCE: Periodontal diseases start at a very early age and periodontal health deteriorates at a faster rate in DS children for which saliva also plays its part. Prime importance should be given to frequent oral hygiene and preventive measures in DS children thus preventing accumulation of debris and plaque.

Access to dental care for children with special health care needs: a cross-sectional community survey within Jeddah, Saudi Arabia.

The aim of this study was to investigate the level of dental care access among children with special health care needs (CSHCN) in Jeddah, Saudi Arabia and the barriers hindering this access. Data of this cross-sectional study were obtained from self-administered surveys distributed through seven CSHCN centers. Children with autistic spectrum disorder (ASD), Down syndrome, cerebral palsy, and developmental delay were included. Univariate and bivariate analyses were conducted to describe the data. A total of 602 study participants were included in the analyses. Only 24.9% of the participated caregivers routinely visited the dentist for their CSHCN. Half of CSHCN caregivers found difficulties obtaining dental treatment. This trend was significantly greater in 12-18 years old children (p = 0.013) and in families commuting for more than one hour to dental clinics (p = 0.045). The most common reported barrier was fear of the dentist (61.6%) followed by child uncooperativeness (37.8%) and treatment costs (27.8%). CSHCN lack sufficient dental care for a variety of reasons, primarily fear of dentists, child uncooperativeness, and treatment costs. Dentists require more training and education to facilitate better access to dental care for CSHCN.

Identifying metabolic parameters related to severity and extent of periodontitis in down syndrome patients.

BACKGROUND AND OBJECTIVE: Systemic metabolic status and periodontitis can be related in patients with Down syndrome (DS). The objective of this study was to identify metabolic indicators (anthropometric measurements, blood pressure, and serum markers) related to severity and extent of periodontitis in DS patients. METHODS: A cross-sectional study was conducted with 49 patients with DS. Periodontal evaluation included the periodontal probing depth (PPD), clinical attachment level (CAL), gingival bleeding index (GBI), and visible plaque index (VPI). Periodontitis severity was classified by the stages system. The extent of periodontitis was assessed as the percentage of sites with CAL ≥3 mm, CAL ≥4 mm, PPD ≥4 mm, and PPD ≥5 mm. The metabolic condition of the participants was determined by analyzing anthropometric parameters, blood pressure, and serum markers. Data were analyzed using the Mann-Whitney test, Spearman's correlation coefficient, and multivariate regression analysis. RESULTS: Periodontitis stage 3/4 was detected in 32.7% of patients, with high values of VPI (54.6 ± 35.8) and GBI (42.4 ± 33.3). The severity of periodontitis was related to higher mean corpuscular hemoglobin (ß = .291, p = .028) and mean corpuscular volume values (ß = .293, p = .046). Arm circumference measurements were inversely related to CAL ≥3 mm (ß = -.408, p = .023), PPD ≥4 mm (ß = -.475, p = .006), and PPD ≥5 mm (ß = -.443, p = .010). CONCLUSIONS: The findings suggest that the severity and extent of periodontitis may be related to some metabolic parameters in DS patients.

Dental health care for children with Down syndrome: Parents' description of their children's needs in dental health care settings.

A visit to the dental clinic may be challenging for a child with Down syndrome due to medical and oral health problems as well as communication problems. The aim of the present study was to explore how parents of children with Down syndrome describe their child's needs in the dental health care setting. In a survey concerning parental experiences with dental health care in Sweden, free comments were analysed with content analysis and resulted in five categories: "Need for continuity of care in dental health care"; "Need for dental health care professionals to have knowledge and expertise in caring for children with Down syndrome and other disabilities"; "Need for dental health care professionals to use a caring approach with children with Down syndrome"; "Need for the child with Down syndrome to be prepared to participate in their dental health care visit" and "Need for the child with Down syndrome to be given the same rights as typically developing children". To support children with Down syndrome in an optimal way, dental health care needs to be tailored to meet the child's unique needs. In addition, dental health care professionals need knowledge of and expertise in the care of children with Down syndrome.

C-arm Free O-arm Navigated Posterior Atlantoaxial Fixation in Down Syndrome: A Technical Note.

The surgical treatment of pediatric atlantoaxial subluxation (AAS) in Down syndrome (DS) remains technically challenging due to radiation exposure and complications such as vertebral artery injury and nonunion. The established treatment is fixation with a C1 lateral mass screw and C2 pedicle screw (modified Goel technique). However, this technique requires fluoroscopy for C1 screw insertion. To avoid exposing the operating team to radiation we present here a new C-arm free O-arm navigated surgical procedure for pediatric AAS in DS. A 5-year-old male DS patient had neck pain and unsteady gait. Radiograms showed AAS with an atlantodental interval of 10 mm, and irreducible subluxation on extension. CT scan showed Os odontoideum and AAS. MRI demonstrated spinal cord compression between the C1 posterior arch and odontoid process. We performed a C-arm free O-arm navigated modified Goel procedure with postoperative halo-vest immobilization. At oneyear follow-up, good neurological recovery and solid bone fusion were observed. The patient had no complications such as epidural hematoma, infection, or nerve or vessel injury. This novel procedure is a useful and safe technique that protects surgeons and staff from radiation risk.

Three-Dimensional Assessment of Craniofacial Features in Patients With Down Syndrome During the Mixed Dentition Period: A Case-Control Study.

OBJECTIVES: Down syndrome (DS) is a common congenital chromosomal disorder related to trisomy 21. Lateral cephalometric radiography studies have shown that patients with DS have characteristic craniofacial morphology; however, no 3-dimensional analysis studies have been performed to investigate the craniofacial features, including volumetric aspects, of patients with DS. The present study was performed to evaluate the craniofacial features, including volumetric aspects, of patients with DS and to compare these findings with control participants using cone beam computed tomography (CBCT). MATERIALS AND METHODS: The study sample consisted of 12 patients with DS and 12 control participants. All participants were examined by means of CBCT; the resulting images were used for evaluation of maxillary and mandibular volume, cranial base, and craniofacial measurements. Differences between patients with DS and control participants were statistically analyzed using Student t test. RESULTS: Compared to control participants, patients with DS exhibited statistically significant reductions in maxillary and mandibular volumes. Both sagittal and axial cranial base linear measurements were shorter in patients with DS than in control participants. In contrast, the cranial base angle was enhanced in patients with DS, compared with control participants. Moreover, condylion (Co)-gnathion, anterior nasal spine-menton, and Co-subspinale (point A) measurements were shorter in patients with DS than in control participants; the sella-nasion-mandibular plane angle was significantly reduced in patients with DS, compared with control participants. CONCLUSION: Our results suggest that patients with DS have distinct skeletal volume and craniofacial morphology features, relative to individuals without DS.

Association between oral care challenges and sensory over-responsivity in children with Down syndrome.

BACKGROUND: Sensory over-responsivity has been linked to oral care challenges in children with special healthcare needs. Parents of children with Down syndrome (cDS) have reported sensory over-responsivity in their children, but the link between this and oral care difficulties has not been explored. AIM: To investigate the relationship between sensory over-responsivity and oral care challenges in cDS. DESIGN: An online survey examined parent-reported responses describing the oral care of their cDS (5-14 years; n = 367). Children were categorized as either sensory over-responders (SORs) or sensory not over-responders (SNORs). Chi-square analyses tested associations between groups (SORs vs. SNORs) and dichotomous oral care variables. RESULTS: More parents of SOR children than of SNOR reported that child behavior (SOR:86%, SNOR:77%; p < .05) and sensory sensitivities (SOR:34%, SNOR:18%; p < .001) make dental care challenging, their child complains about ≥3 types of sensory stimuli encountered during care (SOR:39%, SNOR:28%; p = .04), their dentist is specialized in treating children with special healthcare needs (SOR:45%, SNOR:33%; p = .03), and their child requires full assistance to brush teeth (SOR:41%, SNOR:28%; p = .008). No intergroup differences were found in items examining parent-reported child oral health or care access. CONCLUSIONS: Parents of SOR children reported greater challenges than parents of SNOR children at the dentist's office and in the home, including challenging behaviors and sensory sensitivities.

Salivary microbiome in children with Down syndrome: a case-control study.

BACKGROUND: Down syndrome (DS), a most frequently occurring genetic disorder, is associated with oral morphological abnormalities and higher incidence rates of oral diseases. Recent studies have analyzed the oral microbiome to elucidate their relationships with oral diseases and general health; however, reports on the oral microbiome in individuals with DS are scarce. This study aimed to characterize the oral microbiome in children with DS. METHODS: A total of 54 children aged 1-13 years were enrolled in this case-control study. Of these children, 27 had DS (Case: DS group) and 27 were age-matched healthy children (Control: ND group). Saliva in the oral cavity was collected with a swab, cultured, and tested for cariogenic and periodontopathic bacteria by quantitative polymerase chain reaction (qPCR) detection, and the salivary microbiome was analyzed using next-generation sequencing. The student's t-test, Fisher's exact test, Mann-Whitney U test, and permutational multivariate analysis of variance were used for statistical analysis. RESULTS: Results of culture and qPCR detection tests for cariogenic and periodontopathic bacteria showed no significant differences in the detected bacteria between the DS and ND groups, with the exception of a significantly higher detection rate of Candida albicans in children with DS with mixed dentition. A comparison of the salivary microbiomes by 16S sequencing showed no significant difference in α diversity; however, it showed a significant difference in ß diversity. Children with DS had a higher relative abundance of Corynebacterium and Cardiobacterium, and lower relative abundance of TM7. CONCLUSIONS: This study provided basic data on the salivary microbiome of children with DS and showed the microbiological markers peculiar to children with DS. However, further research to identify the relationship with oral diseases is warranted.

The impact of inhalation anesthetics on early postoperative cognitive function and recovery characteristics in Down syndrome patients: a randomized, double - blind study.

BACKGROUND: Down syndrome (DS) is associated with intellectual disability. DS patients may be unable to cooperate and often require general anesthesia even for minor surgeries. Rapid recovery significantly contributes to fast-tracking. This prospective randomized, double - blind study investigates the impact of desflurane and sevoflurane on recovery and early postoperative cognitive function of these patients. METHODS: Forty-four patients undergoing dental surgery, were randomized to receive desflurane (DES-group) or sevoflurane (SEVO-group) for anesthesia maintenance. The primary outcome was postoperative cognitive function (Prudhoe Cognitive Function Test, PCFT) at 90 min and 4 h postoperatively. Secondary outcome measures were the time between volatile discontinuation and spontaneous breath, eye opening, extubation, orientation and response to commands, time to achieve an Aldrete score ≥ 9 in the Post-anesthesia Care Unit and time to fulfill discharge criteria (Post Anesthetic Discharge Scoring System, PADSS). RESULTS: At 90 min, PCFT scores significantly decreased from baseline in both groups. Nevertheless, at 4 h, in DES-group there was no significant change from baseline (p = 0.163), while in SEVO-group the decrease remained significant (p < 0.001). Desflurane was also found superior regarding recovery characteristics, such as time to eye opening (p = 0.021), spatial orientation (p = 0.004), response to commands (p = 0.004). Discharge criteria were met earlier in DES-group (p = 0.018 for Aldrete score / p < 0.001 for PADSS). CONCLUSIONS: Desflurane was found superior to sevoflurane in terms of faster recovery and better preserved postoperative cognitive function in DS patients undergoing dental surgery. We suggest that desflurane, as part of a multimodal anesthetic approach, could be a useful agent to enhance early discharge from hospital of ambulatory patients with intellectual disability. TRIAL REGISTRATION: Registered with ClinicalTrials.gov ( NCT02971254 , principal investigator: E.G; November 2016).

Medical conditions of children and young people with Down syndrome.

BACKGROUND: The life expectancy of people with Down syndrome (DS) has significantly increased in the last decades. We describe the congenital malformations and main comorbidities of a cohort of children and young people with DS and analyse their differences according to age and gender groups. METHODS: This retrospective cross-sectional study was conducted at DS centre of Bambino Gesù Children's Hospital in Rome (Italy). The period for reviewing all electronic health records ran from July 2016 to September 2017. We collected data on clinical conditions and compared them with the general paediatric population. Moreover, we compared the main comorbidities, dental diseases and body mass index data between age groups. RESULTS: Seven hundred sixty-three children and young people with DS included in this study were aged 7.45 ± 5.49 years. Gender distribution included 58.19% male patients. The majority of our population (71.04%) came from central regions of Italy. Respiratory diseases (19%), congenital heart defects (72.23%), malocclusions (58.62%), astigmatism (20.31%), farsightedness (16.51%), near-sightedness (12.19%) and autoimmune hypothyroidism (3.28%) were more frequent in our population compared with the typical paediatric population. Upper respiratory tract infections and underweight were significantly more frequent in the youngest children, whereas dental diseases, refractive errors, obesity and autoimmune hypothyroidism increased over age. CONCLUSIONS: Children and young people with DS present a high prevalence of potentially treatable medical conditions making multidisciplinary teams a mandatory need for this population.