This article delves into the intricate relationship between oral health, quality of life, and behavioral characteristics in individuals with autism spectrum disorder (ASD). Background/Objectives: Autism has been associated with various challenges, and this study seeks to elucidate the impact of ASD on oral health outcomes and overall well-being. The research focuses on assessing overall oral health by evaluating various parameters, such as the condition of lips, tongue, gums and tissues, natural teeth, dentures, oral hygiene, and dental pain in individuals with ASD. Additionally, the study explores the influence of age, sex, and certain variables, like basic daily living skills on oral health practices, aiming to identify potential correlations between these factors and oral health outcomes. Methods: We employed standardized instruments to quantitatively measure and analyze the impact of oral health status on the overall quality of life experienced by individuals with ASD. Results: The study found a statistically significant positive association between oral health, measured by the Oral Health Assessment Tool (OHAT), and quality of life, as indicated by EuroQol 5-Dimensions Youth version (EQ-5D-Y) total scores (β = 0.13045, p = 0.00271). This suggests that better oral health is linked to higher quality of life. When adjusting for age and sex in a multiple linear regression model, the association remained significant but with a slightly reduced effect size (β = 0.10536, p = 0.0167). Age also showed a marginally significant positive association with quality-of-life scores. ANOVA results indicated that participants with advanced oral health status reported significantly higher quality-of-life scores than those with poorer oral health (p = 0.00246). The study also found that intelligence quotient (IQ) does not substantially influence dental health status, while the “Autonomy” subscale of the EQ-5D-Y is positively related to the OHAT. Conclusions: Unhealthy oral conditions significantly impact the overall quality of life in individuals with ASD. Therefore, it is crucial to include regular dental assessments and treatments in therapeutic protocols for patients with ASD.

Background/Objectives: Maintaining proper oral hygiene is particularly challenging for individuals with autism spectrum disorder (ASD) due to sensory sensitivities, communication difficulties, and anxiety. Traditional oral hygiene education methods may be ineffective for this population, thereby necessitating innovative solutions. This study evaluates the effectiveness of a virtual reality (VR)-based educational program in improving home oral hygiene practices among children and adolescents with ASD. Methods: Sixty-four children with ASD (Level 1) were recruited and divided into two groups. Group 1 received traditional oral hygiene education, while Group 2 used a VR-based intervention featuring a virtual domestic bathroom with an avatar demonstrating proper brushing and flossing techniques. The intervention lasted eight weeks, with two one-hour sessions per week. The oral health assessment tool (OHAT) was used to evaluate oral hygiene status before and after the intervention. An unpaired t-test compared outcomes between groups. Results: Both groups showed improvements in oral hygiene, but the VR intervention group exhibited a significantly greater reduction in OHAT scores compared to the traditional education group (p < 0.001) due to a greater improvement in oral health. The VR-based approach enhanced engagement and adherence to oral hygiene routines, particularly benefiting children with ASD who struggle with conventional methods. Conclusions: VR-based education appears to be a promising tool for improving oral hygiene habits in children with ASD by providing an interactive and immersive learning experience. Future research should explore long-term adherence and the broader application of VR in healthcare education.

Tooth agenesis (TA), the congenital absence of one or more teeth, is the most common manifestation of defective dental morphogenesis in humans. TA can occur as an isolated (non-syndromic) condition or as part of a broader syndromic presentation. In this review, we analyzed a total of 73 manuscripts to provide a comprehensive update on the genetic landscape of TA. To investigate the genes, variants, and associated phenotypes, we reviewed data from curated databases including Human Phenotype Ontology (HPO), OMIM, ClinVar and MalaCards. Based on the current evidence, the genes most frequently implicated in TA are MSX1, EDA, and PAX9. However, chromosomal abnormalities, such as those seen in Down syndrome and Williams syndrome, along with structural variations (e.g., deletions and duplications), also contribute significantly to TA etiology. The most involved pathways include TNF receptor binding, encompassing genes such as EDA, EDA2R, EDAR, and EDARADD, and the mTOR signaling pathway, which includes AXIN2, FGFR1, LRP6, WNT10A, and WNT10B. The aim of this review is to provide an critical synthesis of the genetic mechanisms underlying TA, highlighting the contribution of major signaling pathways, regulatory networks, and emerging molecular insights that may inform diagnostic and therapeutic advances.

Background/Objectives: Dental anxiety represents a significant barrier to oral care in children with neurodevelopmental disorders (NDDs), whose sensory sensitivities and behavioral challenges often complicate clinical management and limit access to treatment. Virtual reality (VR) has emerged as a supportive tool to improve the feasibility of dental procedures in this vulnerable population. This study aims to evaluate whether a VR-based distraction approach could facilitate the completion of dental treatment in children with mild intellectual disability (ID). Methods: A prospective comparative observational study was conducted between February and September 2025 involving 56 children aged 11–15 years with mild ID and moderate dental anxiety (Corah Dental Anxiety Scale, DAS: 9–12). Participants were allocated to two groups of distraction approaches—VR distraction (n = 28) using the Oculus Quest 3^® headset or a monitor-based cartoon (n = 28)—according to device availability and to maintain balanced group sizes. The primary outcome was treatment success, defined as completion of the restorative dental procedure under local anesthesia within 50 min. Results: Treatment success was achieved in 78.6% of the VR group versus 46.4% of the monitor group (p = 0.026). The odds of successful treatment were more than four times higher with VR compared to monitor distraction (OR 4.12; 95% CI: 1.16–16.47), with a risk ratio of 2.50 (95% CI: 1.14–5.50). Stratified analysis suggested a stronger effect in females (OR 12.25; 95% CI: 1.27–118.36) than in males (OR 2.56; 95% CI: 0.53–12.43). Conclusions: VR-based distraction significantly improved dental treatment success in children with mild ID compared with conventional distraction. Although gender differences were observed, they should be interpreted with caution due to the small sample size. This work lays the foundation for developing both short- and long-term protocols to facilitate dental treatment management and cooperation in patients with NDDs.

Tooth agenesis (TA) is a common developmental abnormality that may occur as an isolated trait or as part of a multisystem disorder. Its genetic architecture remains incompletely characterized, particularly in individuals with neurodevelopmental disorders (NDDs). This descriptive case series aimed to investigate potentially relevant genetic variants in a clinically selected cohort of patients with TA using whole-exome sequencing (WES). Ten patients with TA and neurological or neurodevelopmental conditions were recruited at the IRCCS Oasi Research Institute of Troina between January 2024 and July 2026. The cohort included eight males and two females (age range: 5–50 years). The associated clinical spectrum included autism spectrum disorder (ASD), intellectual disability (ID), language impairment, behavioral abnormalities, and Down syndrome (DS). WES was performed in the examined cohort and variants were prioritized according to population frequency, predicted functional impact, inheritance pattern, and phenotypic concordance. The cohort comprised nine patients with hypodontia and one with oligodontia. Thirty variants involving 28 genes were identified. A homozygous GLI3 p.Gly727Arg variant, inherited from two heterozygous parents, was detected in an eight-year-old boy with ASD, global developmental delay, and hypodontia. Pathogenic or likely pathogenic loss-of-function variants in BCL11B were identified in two girls with ID and hypodontia. A likely pathogenic NIPBL splice-site variant was identified in a 15-year-old boy with hypodontia. His similarly affected father carried a novel FGFR1 p.Asn185His variant that was absent in the son, excluding it as the sole explanation for the familial dental phenotype. A 50-year-old man with DS and oligodontia carried the recurrent pathogenic BBS1 p.Met390Arg allele in the heterozygous state, together with variants of uncertain significance in PTH1R and STAT3. However, none of these variants independently explained his dental phenotype. The remaining variants were primarily relevant to the associated neurological phenotypes or represented secondary findings. This descriptive case series illustrates the clinical and genetic heterogeneity of TA in individuals with NDDs. Although the findings do not establish causal relationships with TA, they highlight the importance of distinguishing the general clinical significance of a variant from its specific relevance to dental development. Replication in larger cohorts and functional validation will be required to clarify the contribution of the identified candidate variants.

Background and Objectives: Children with mild intellectual disability (MID) frequently experience difficulties during dental treatment due to increased sensitivity to environmental stimuli and limited cooperation. Sensory-adapted dental environments (SADE) have been proposed as a strategy to improve the dental experience of patients with neurodevelopmental conditions; however, evidence regarding their effectiveness in children with MID remains limited. This randomized clinical trial aimed to evaluate the effects of a sensory-adapted dental environment on pain-related behaviors and treatment cooperation during professional oral hygiene procedures in children with MID and moderate dental anxiety. Materials and Methods: A randomized clinical trial was conducted at the IRCCS Oasi Research Institute (Troina, Italy). A total of 200 children were screened for eligibility. Following the application of the predefined inclusion and exclusion criteria, 160 children (76 males and 84 females; age range: 6–7 years) with a diagnosis of mild intellectual disability (MID) and moderate dental anxiety, assessed using the Corah Dental Anxiety Scale (DAS), were enrolled. Participants were randomly assigned to either a sensory-adapted dental environment (SADE; n = 80) or a regular dental environment (RDE; n = 80). All participants underwent a single session of professional oral hygiene using an ultrasonic scaler. Pain-related behaviors were assessed using the Face, Legs, Activity, Cry, Consolability (FLACC) Scale, whereas cooperation during treatment was evaluated using the Frankl Behavior Rating Scale. Owing to the non-normal distribution of the outcome variables, between-group comparisons were performed using the Mann–Whitney U test. Statistical significance was set at p < 0.05. Results: Participants treated in the SADE showed significantly lower FLACC scores compared with those treated in the RDE (3.10 ± 1.86 vs. 5.05 ± 2.36, p < 0.001), indicating reduced pain-related behaviors during treatment. Moreover, children in the SADE group demonstrated significantly higher Frankl scores than those in the RDE group (2.78 ± 0.48 vs. 2.41 ± 0.84, p = 0.006), reflecting improved cooperation. Sex-stratified analyses confirmed significantly lower FLACC scores in both males and females treated in the SADE. No significant Group × Sex interaction was observed for either outcome, suggesting that the beneficial effects of sensory adaptation were independent of sex. Conclusions: SADE significantly reduced pain-related behaviors and improved cooperation during professional oral hygiene procedures in children with mild intellectual disability and moderate dental anxiety. These findings support the implementation of sensory-adapted strategies in pediatric dental settings to improve treatment experiences and facilitate dental care for children with neurodevelopmental disorders.