Article
The challenges in dental management of patients with 7q11.23 duplication syndrome
7q11.23 duplication syndrome is a rare genetic condition associated with developmental, behavioural, and sensory challenges that can complicate dental care. This letter highlights the difficulties in managing communication, cooperation, and oral hygiene in affected patients. It underscores the importance of multidisciplinary collaboration, early recognition, and tailored preventive strategies. Greater awareness among dental professionals, including general and paediatric dentists, is essential to improve care delivery.
7q11.23 duplication syndrome results from duplication of a segment on chromosome 7, encompassing the Williams–Beuren syndrome region. Patients with this syndrome commonly exhibit significant developmental delays, speech and language impairments, anxiety, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and sensory sensitivities, all of which can severely complicate dental visits. 1
One of the primary obstacles in treating these patients lies in managing cooperation and communication. The heightened anxiety, coupled with sensory processing difficulties, such as aversion to dental instruments, bright lights, or unfamiliar sounds, often results in significant behavioural resistance. In some cases, even basic procedures, such as oral examination or prophylaxis, can be distressing and unachievable without behavioural desensitization techniques or pharmacological intervention.
Furthermore, daily oral hygiene practices, such as toothbrushing, may be impacted by aversion to self-care routines or tactile sensitivities. Similarly, the sensory impact of food preferences or restricted diets may contribute to an increased risk of dental disease, including caries and periodontal conditions. These factors highlight the importance of proactive preventive strategies tailored to individual needs.
Patients with this syndrome often require a multidisciplinary approach. Collaboration with caregivers, paediatricians, behavioural therapists, and in some instances, sedation teams or specialists in special care and paediatric dentistry becomes essential to provide safe and effective treatment. Building a trusting rapport over multiple visits, adapting communication styles, and modifying the clinical environment are crucial strategies.
Given the increasing awareness and genetic diagnosis of 7q11.23 duplication syndrome, it is important for dental professionals, especially general dental practitioners, to be familiar with its behavioural manifestations. In addition, fostering general awareness of other genetic conditions that may present with similar or overlapping challenges in dental management is equally essential, as these may require similarly tailored care approaches.
Early recognition, individualized treatment planning, and patient-centred behavioural strategies can greatly improve care outcomes. We would encourage further discussion and shared experiences within the profession regarding management approaches, to better support these patients and their families in accessing high-quality dental care.