McCusker EA, Loy CT. Huntington Disease: The complexities of making and disclosing a clinical diagnosis after premanifest genetic testing. Tremor Other Hyperkinet Mov (N Y). 2017; 7 https://doi.org/10.7916/D8PK0TDD
Evans SJ, Douglas I, Rawlins MD Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records. J Neurol Neurosurg Psychiatry. 2013; 84:1156-1160 https://doi.org/10.1136/jnnp-2012-304636
Wexler NS, Collett L, Wexler AR Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review. BMJ Open. 2016; 6 https://doi.org/10.1136/bmjopen-2015-009070
Veenhuizen RB, Kootstra B, Vink W Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation. Orphanet J Rare Dis. 2011; 6 https://doi.org/10.1186/1750-1172-6-77
Manley G, Lane H, Carlsson A Guideline for oral healthcare of adults with Huntington's disease. Neurodegenerative Disease Management. 2012; 2:55-65 https://doi.org/10.2217/nmt.11.68
Saft C, Andrich JE, Müller T Oral and dental health in Huntington's disease – an observational study. BMC Neurol. 2013; 13 https://doi.org/10.1186/1471-2377-13-114
Dougall A, Fiske J. Access to special care dentistry, part 9. Special care dentistry services for older people. Br Dent J. 2008; 205:421-434 https://doi.org/10.1038/sj.bdj.2008.891
Hamilton A, Ferm U, Heemskerk AW, Twiston-Davis R, Matheson K, SimpsonS A Special Report-Management of speech, language and communication difficulties in Huntington's disease. Neurodegenerative Disease Management. 2012; 2:67-77 https://doi.org/10.2217/nmt.11.78
Tarolli CG, Chesire AM, Biglan KM. Palliative care in Huntington Disease: personal reflections and a review of the literature. Tremor Other Hyperkinet Mov (NY). 2017; 7 https://doi.org/10.7916/D88057C7
Huntington's disease: the role of dentistry in the multidisciplinary team Emma Critchley Finbar O'Mahony Elizabeth Lemon Angela Adkins Dental Update 2024 49:7, 707-709.
Authors
EmmaCritchley
BDS, MFDS (Edin), DSCD, MSc (Rest), MSCD (Edin)
Speciality Registrar Special Care Dentistry, North West Deanery, Lancashire Teaching Hospitals NHS Foundation Trust, Chorley and South Ribble Hospital
Huntington's disease is a progressive, genetic disorder, leading to changes to cognition, movement and behaviour. The oral health of these patients can rapidly deteriorate if they are not assessed and managed early. This article explores the role of the dental team, as part of the multidisciplinary team, in caring for Huntington's disease patients. It highlights some of the challenges in providing oral care for this complex group, along with a pathway of care, used by one Special Care Dental Team, in helping to reduce oral complications.
CPD/Clinical Relevance: It is important for GDPs to understand the oral health needs of patients with Huntington's disease and their role in supporting the oral health of these patients.
Article
Emma Critchley
Huntington's disease (HD) is a hereditary, neurodegenerative disorder caused by a mutation in the huntingtin gene,1,2 found on chromosome 4.3 This mutated gene affects the production of an important protein required by neurones in the central nervous system.1,2 HD is inherited in an autosomal dominant pattern,3 which means any children of HD gene carriers have a 50% chance of inheriting the mutated gene.4
The classic sign of HD is chorea (involuntary, jerky movements) that gradually progresses to all muscles;2,3 however, it is not only muscle movement that is affected, and changes in cognition and behaviour are also seen.1 Early signs and symptoms can include irritability, depression, poor coordination, slight involuntary movements and problems with short-term memory.1,3,5 As the disease advances, these involuntary movements become more pronounced, and walking, talking and swallowing become increasingly problematic.2 Cognitive abilities decline and many patients develop dementia.6 Over the course of the disease, daily activities, such as tooth brushing, cleaning and eating, become more challenging and patients become more dependent.2
HD is rare, with prevalence estimated at between 3 and 12 per 100 000 of people with European ancestry, and even lower in other populations.3–7 The frequency in the UK is uncertain.8,9 In adult-onset HD, symptoms usually develop between the ages of 30 and 50 years. Juvenile HD also occurs in younger age groups, but is much rarer.1 The disease is incurable, with an average life span of 15 years after diagnosis.7 Pneumonia is the most common cause of death, followed by suicide.3
Table 1 highlights many of the specialist teams involved in the care of these patients.1–10 Together they aim to manage symptoms, improve quality of life and support patients through pre-diagnosis (if a parent is known to have HD), diagnosis and progression.
Neurologist
Genetic counsellor
Neuropsychiatrist
Specialist nurse
Psychologist
Occupational therapist
Physiotherapist
General medical practitioner
Dentist
Dietitian
Speech and language therapist
Social worker
Huntington's Disease Association
Specialist Huntington's disease advocate
Dental management
Improving quality of life (QoL) is a fundamental part of the multidisciplinary management of HD, and the role of the dental team in this is essential. Good relationships between specialist dentist, general dental practitioner (GDP) and the patient's primary Huntington's team support the implementation of robust preventive measures, develop practical and mindful treatment plans and ensure timely access to services.
Managed clinical networks (MCN), working with wider local dental network (LDN) groups to communicate care pathways and share knowledge and resources, allow for a streamlined, patient-centred service.
Oral manifestations
HD itself is not associated with any distinctive oral manifestations; however, studies have shown that the dental health status in this group of patients is particularly poor when compared to the general population.11,12 The uncontrolled, involuntary movements of the oral and peri-oral musculature, in combination with xerostomia and inadequate oral hygiene, leads to an environment that favours the progression of dental caries and periodontal disease. Table 2 outlines some of the most prevalent oral findings.11,12
Rampant caries
Periodontal disease
Poor oral hygiene
Extensive calculus build-up
Xerostomia
Ulceration
Erosion
Oral candidosis
Persistent open mouth posture
Uncontrolled movements of the lips, tongue and cheeks
Soft tissue trauma (especially to the lower lips)
Barriers to oral health care
Patients with HD face many barriers when it comes to maintaining oral health. These barriers include both home and professional care, with access and understanding of their disease being at the forefront.
Home care
A person's ability to achieve effective oral hygiene is affected by their cognitive, mental and physical capabilities.13 As HD progresses, individuals can lose their ability to self-care and are seldom able to maintain independent and efficient oral hygiene.12 This leads to the reliance on a third party to perform oral hygiene, and for many, this is carers. It is well documented that carers find delivering oral care challenging, whether this be due to concerns over causing harm or confusion over consent.14
Consent
Communication can be challenging as HD progresses, and patients can find it difficult to articulate their wishes.15 Steps should be taken to aid patients in communicating in other ways, including the use of picture boards or signs. The wishes of patients must be respected even if they do not comply, or make unwise decisions. The principles of assessing capacity and consent in adults are laid out in government guidelines. In England and Wales, this is the Mental Capacity Act 200516 and in Scotland, the Adults with Incapacity (Scotland) Act 2000.17 Always assume that the patient has capacity to consent for dental treatment unless it is proved otherwise.1
Communication
Difficulties with communication may make it challenging for a patient to express the need for dental treatment, including expressing pain. They may be anxious about accessing dental services over fears of complications, lack of understanding of professionals about their condition or simply of the treatment itself.18 Communication difficulties in HD include, but are not limited to delayed responses, difficulty understanding complex sentences (both written and spoken), word finding difficulties, inability to tolerate interruptions, perseveration and unintelligible speech. Strategies, such as using less complex language, questions that only require a yes/no response, giving time to respond, picture cards and procedure-specific objects to support understanding, can help maximize effective communication.19
Oral factors and nutrition
Decay rates are high in HD patients due to a combination of factors. As the disease progresses many patients experience dysphagia, which can limit calorie intake, and require dietary supplements that are cariogenic.13 Vomiting and gastric reflux can also occur, further damaging the dentition,12 causing malnutrition and leading to oral ulceration. The composition and volume of saliva can be affected by the patient's medication.12 Xerostomia not only increases the risk of decay, but also of other infections, such as oro-pharyngeal candidiasis. Patients can display an open-mouth posture, adding to the dry mouth problem and causing a build-up of thick dry mucous on the palate and dorsum tongue.15 Eventually, many patients require a percutaneous endoscopic gastrostomy (PEG).11 These patients tend to present with a large build of calculus. Trauma to the soft tissues as a result of uncoordinated movements is not an unusual finding.
Mobility
Patients with HD usually require the use of a wheelchair because movements become too uncoordinated. Wheelchair recliners and hoists, along with support cushions, can help deliver safe and comfortable treatment for both patient and practitioner.
Oral health management
The Huntington's Disease Association (HDA) has many tips for the management of patients with HD and some of these are outlined in Table 3.20 The role of the GDP is essential in the management of this group of patients. A patient with HD may be an attender before they are diagnosed or early on in their disease journey. Many patients will prefer to be treated by their GDP for as long as possible to maintain normality and it is important for patients that these relationships are maintained. Dentate patients should be started on high fluoride toothpaste (sodium fluoride toothpaste 5000ppm) as a preventive measure once they are diagnosed. Treatment can be provided in the usual way while it is safe to do so. It is recommended to be cautious when considering any advanced restorative treatments as long term the maintenance of these can be challenging. Regular dental reviews, at least every 6 months even early on in the disease, are recommended, as patients will also be battling the mental health effects of the diagnosis. It is also reasonable to consider liaison with a local specialist in special care dentistry. Specialist input early can aid treatment planning with the medium- and long-term progression of the disease in mind. A shared care approach early can be beneficial for patients and practitioners. Table 4 outlines some of the key principles in the dental management of HD.
Use a manual or electric toothbrush with a small head
Consider modifying the handle of the toothbrush to aid with dexterity (Figure 1)
If toothbrushing becomes challenging, consider the use of a three-headed toothbrush
Suction toothbrushes can be helpful in those who have a risk of aspiration
Use a toothpaste containing high fluoride
Sodium lauryl sulphate-free toothpaste, which does not foam, can be useful if there is risk of aspiration
Finger guards and mouth rest can be helpful during examination and provision of oral health care. Carers may need training in how to use
MouthEze can be used as an aid to oral hygiene particularly in edentulous patients with thick mucus secretions (Figure 2).
Oral gels can help with dry mouth (eg Oralieve moisturizing mouth gel)
Figure 1. An example of a modified toothbrush handle to aid dexterity. This handle is made from silicone putty. The toothbrush is lubricated with petroleum jelly before moulding so the modified handle can be removed. Other materials such as sponge, or a tennis ball can also be used.Figure 2. MouthEze which can be used to safely clear thick mucus secretions from patients' mouths.
Prescribe high fluoride toothpaste from the point of diagnosis
Patient should be seen for regular reviews
Regular application of fluoride varnish
Mouthguards can be used help reduce soft tissue trauma from the teeth, if tolerated and safe
Digital impression systems if available could be beneficial
Sedation can be helpful to control involuntary muscle movements with an appropriately trained and experience seditionist, after full airway risk assessment
Prescription of oral gels to aid with xerostomia can be beneficial and popular with patients
Advanced restorative treatment (implants, crowns, bridges) should be provided with extreme caution in the early stages of the disease, and avoided completely as the disease progresses
One of the principal barriers to providing safe dental care is the risk of aspiration pneumonia (AP). AP occurs when oropharyngeal or gastric contents are misdirected into the lower respiratory tract causing inflammation of the alveoli.21 As the swallowing abilities of patients with HD decline their risk of AP increases and providing dental treatment comes with significant risk. As death of patients with HD is usually as a result of a respiratory complication,22 it is advised if the patient has dysphagia a specialist in special care dentistry is consulted prior to performing aspiration risk procedures. SALT involvement may be necessary to assist in safe treatment planning.
Pathway of care
Our special care dental (SCD) service receives referrals from a range of sources. For HD patients most referrals come via the speech and language team (SALT) in the community. The team is keen to ensure all patients receive appropriate oral health care and routinely refer their patients to the service. The flow diagram below (Figure 3) outlines the pathways these patients take after consultation. Table 5 summarizes the case complexity levels as described in the 2015 Guides for commissioning dental specialties-Special Care Dentistry, published by NHS England. These levels of care are a guide to practitioners of where patients should receive their care based on factors such as communication, co-operation and medical conditions.23 The aim is to ensure patients receive efficient, timely and safe dental care that allows them to stay under the care of their GDP for as long as possible.
Figure 3. Flow diagram representing the special care dentistry pathway taken by patients with Huntington's disease.
Level 1
Special care needs that can be managed by the skills and competence acquired at dental undergraduate training and dental foundation training, or equivalent
Level 2
Procedural and/or patient complexity requires practitioner with enhanced skills but can usually be provided in primary care
Level 3a
Management requires the expertise of a GDC-recognized specialist in special care dentistry
Level 3b
Management requires the expertise of a GDC-recognized specialist in special care dentistry, with a consultant status
Case reports
The cases below outline the dental management of two patients with HD. In both cases the patients' QoL was affected by their poor oral health status. Neither patient had received a tailored oral health plan on diagnosis.
Case 1
A 60-year-old female with late stage HD was referred to SCD via SALT, due to pain from her dentition. Medically she was showing signs of declining cognitive function and a deterioration of her mental health. She had moderate oropharyngeal dysphagia and was on stage 2 thickened fluids. She had had a recent chest infection and was a wheelchair user due to uncontrolled movements from her HD. She was in a care home full time and had regular contact with her daughter. She was unable to provide any self-care independently.
The patient was dentate with rampant caries and poor oral hygiene. She had 21 remaining teeth, 17 of which were decayed or fractured. She had limited speech but verbally requested ‘all teeth out’. It was assessed that the patient had capacity for this decision, following the principles of the Mental Capacity Act. Treatment options were discussed, and a second appointment made with her daughter in attendance to help support communication. Easy read leaflets were given to the patient explaining the GA, extractions and dentures. With this support the patient requested and was consented for a full dental clearance under GA.
In the interim SALT were contacted with regards to the proposed plan. Concerns were raised regarding the patients ability to maintain her nutrition post operatively, as a result of pain and reduced function. As a PEG would be required in the future the patients medical team, in conjunction with the patient, decided to place the PEG prior to her dental clearance. The feasibility of having both procedures completed simultaneously was investigated; however, it was advised the PEG should be placed and tolerated prior to the dental treatment.
Her admission for a full dental clearance under GA took place uneventfully as a daycase surgery and she was closely monitored for signs of AP post operatively.
Following a period of healing, impressions were taken for complete upper and lower dentures, Impression compound and silicone putty were used to reduce the risk of aspiration. The patient had been informed that she may not tolerate dentures preoperatively but expressed the desire for an attempt to be made. On last review, she was wearing her upper denture only, but was very happy with this. She was referred to the Tier 2 SCD Dental service for follow-up care.
Case 2
A 37-year-old man with late stage HD was referred by his GDP as he was ‘extremely uncooperative’ and in pain. The patient was known to SALT but was maintaining a normal diet with food cut into small pieces without evidence of aspiration. He lived independently with support from family and care staff. He had impaired mobility and was often supported by his brother. He had capacity to consent for the proposed dental treatment, although extra time was required to allow for delayed responses. On examination he was partially dentate with unstable periodontal disease. He had 21 remaining teeth with grade II and III mobile teeth in all sextants, totalling 11. There were retained roots in the posterior quadrants.
After a comprehensive consent process with the patient and his family, a GA was provided for extraction of the posterior teeth, maintaining the upper anterior teeth for aesthetics and strategic teeth to aid with partial denture retention. A total of five teeth were retained (Figure 4).
Figure 4. Intra-oral photograph of Case 2 showing the remaining dentition following extractions.
After a period of healing partial upper and lower dentures were provided. Alongside SALT, a programme was developed to allow the patient to wear the dentures comfortably and safely (Figure 5). Table 6 highlights the short-term plan to help build up the patient's tolerance to the dental prosthesis.
Figure 5. Photograph of Case 2 showing upper and lower dentures in place.
Carers to complete after lunch only
Sit at the dining room table
No mirror required
Place a towel on the table in front of the patient
Place lower denture on towel first
No denture adhesive required
To fit independently, assist if necessary
Do not talk to the patient, multi-tasking impairs activity in HD
Thoroughly dry upper denture, carefully squeeze denture adhesive into denture
Patient to fit independently, but assist and check well fitted, you may have to press firmly behind front teeth – use gloves
Encourage patient to ‘bite down and swallow’, this creates pressure in the mouth and gets a good seal
Monitor for drool and encourage to swallow again
No drink for at least 15 minutes
Dentures to be left in until tea time
Staff to support removal prior to meal
Patient to swill water around the mouth like mouthwash, which will loosen denture adhesive
Support removal as patients does not have the fine motor strength to complete independently
Thoroughly clean for next trial
The remaining anterior teeth are of limited medium-term prognosis but this transition period has allowed for successful acclimatization to denture wearing.
Discussion
The first point of contact for dental treatment for patients with HD is likely to be the general dental practitioner. It is therefore important that GDPs understand the condition, the challenges regarding consent and are aware that patients may not be able to remain still for examinations. Multitasking, for example biting down on an intra-oral film while trying to remain still, can exacerbate gross motor chronic movements, so simple instruction and time can help to reduce some of the excessive movements.
In Case 1, the patient was aware that for her dental treatment to be provided she would require a GA because of her uncontrolled movements and the volume of care needed. Both she and her daughter were well informed of the risks of GA associated with her condition and wanted this course of treatment to be definitive. Knowing that her health was going to further deteriorate and already relying heavily on others for self-care, the patient no longer wanted the worry of dental pain and the burden of maintaining a failing dentition any longer.
In comparison, the patient in Case 2 was still on a bolus diet and relied on his dentition to aid with mastication. A decision was made to retain teeth with a limited prognosis, even though it was not possible to stabilize the patient's periodontal disease. It can be challenging to treatment plan for patients who are not seen until late in their disease progression. Balancing risks and benefits of treatment options, patient wishes, and long-term progression can be difficult. Future planning for failure of the remaining dentition was essential in this case. The remaining teeth would self-exfoliate or require extraction at some point. The plan was to add these teeth to the patient's current partial denture, which he was comfortably wearing. With only anterior, periodontally involved teeth remaining, these simple extractions could be performed under LA with clinical holding, by experienced practitioners, as an alternative to GA.
Both cases highlight the benefits of good communication and multidisciplinary team working with the wider HD team. In Case 1, liaising with SALT, the nutrition team and the anaesthetic team ensured the patient received her care in the appropriate order to optimise her care. In Case 2 working closing with SALT enabled the patient to maintain some independence over the use of his dentures, which is important for his mental health24.
Easy-read leaflets are a great tool for helping many patients to understand the treatment proposed and also in assessing the patient's understanding of what has been discussed. Alternate methods of communication, for example picture boards, can also be useful when verbal communication is challenging or no longer an option.
Conclusion
What constitutes a good QoL differs from patient to patient. Treatment plans need to be tailored to suit the individual needs and wishes of patients, considering the knowledge of disease progression and risk of treatment. Having a good relationship with patients, prior to disease progression, allows for a better understanding of their wishes and what is important to them before they are no longer able to communicate.
