The management of dystonia in children is undergoing intense review. These guidelines will be regularly amended to provide the most comprehensive overview to carers and health providers as new evidence regarding diagnosis, assessment and management of dystonia in childhood emerges.
Oral medications are often the mainstay for managing dystonia in children and young people. They may respond well and can tolerate higher doses of anticholinergics than adults, but the effect may be short-lived or the medication may cause side effects such as somnolence, drooling, poor trunk and neck control and difficulties concentrating in class. Mood and behavioural disturbances may further limit the use of drugs. There is no one drug that is the definitive method of managing dystonia but often a combination of several drugs and other therapies can enable effective management.
All dystonia management should be tailored to individual needs of children and goal-directed under the guidance of experienced doctors and therapists. The Multidisciplinary Team (MDT) is a vital resource to support families of children with dystonia and can help devise strategies for coping with many essential functions. Easily identified stages in dystonia severity have recently been described (Lumsden 2013) and this scheme has further been incorporated into a practice guideline for the management of status dystonicus, dystonic storms and brittle dystonia (Allen 2014).
Some of the management options that may be offered include:
Types of Medication
When the cause of dystonia is unknown and the brain MRI scan is normal, a trial of levodopa is required to diagnose the rare genetic disorder known as dopa-responsive dystonia which can be managed for years on small doses of levodopa once or twice a day.
If a trial of levodopa is unsuccessful, then trihexyphenidyl is usually the first line of management. This is often well tolerated in children although anticholinergic side effects need to be monitored. However, beneficial reductions in dystonia can vary from child to child and may not be tolerated in older children who may experience feeling muddle-headed or blurred vision at higher doses.
Oral Baclofen* and diazepam* are often useful but side effects of drowsiness, drooling and droopiness of trunk (and neck control) are common at higher doses. The undesirable advent of “the three d’s” should always be discussed when these medications are prescribed. A problem with the sedative medicines such as the benzodiazepines (diazepam, nitrazepam, midazolam, lorazepam) is the liability to cause respiratory depression, copious secretions and chest infections when used regularly and especially in higher doses: side effects generally not encountered with clonidine or gabapentin. (*Limited license for use to treat muscle spasms in children).
Clonidine is useful but can cause somnolence, but this property is very useful in very severe cases of dystonia which often manifests as ‘brittle/unstable dystonia’ or status dystonicus (see section 2).
Gabapentin is sometimes used and is currently being evaluated as a promising mainstream medication with many positive benefits in controlling uncomfortable dystonic postures, mood, behaviour and most importantly in helping to improve sleep quality and duration (Lin unpublished).
Tetrabenazine is sometimes used but the results are disappointing. Nevertheless the use of tetrabenazine in status dystonicus has been reported.
Licensing of the safest medicines in children with dystonia is urgently required.
Botulinum toxin A injections
These are licensed for treating lower limb spasticity in children with cerebral palsy but are not licensed for the treatment of children’s dystonia. However, they are often used off licence to treat dystonia in children in order to manage pain and spasm in specific muscle groups that interfere with function of the neck, hands, elbows, hips, knees, ankles or feet. Good practice guidelines for use of botulinum toxin A in children are available which advise on maximum dosage and administration frequency and technique so that systemic botulism is not seen. They highlight caution in giving botulinum toxin A to the most functionally impaired children.
Intrathecal baclofen (ITB)
This approach offers regional and total body dystonia control without some of the risks of somnolence attendant on oral medication. This will sometimes be used to treat acquired dystonia
not amenable to Deep Brain Stimulation.
Deep Brain Stimulation (DBS)
This is very effective in inherited and idiopathic dystonias. Response to DBS in the treatment of dystonia is thought to decline with the proportion of life lived with dystonia; so for inherited and idiopathic dystonias, DBS should be offered early, preferably within 5 years of onset of dystonia. In addition, it should be recognised that the longer the duration of dystonia, the greater the risk of skeletal deformities and dependency (through lack of opportunity). DBS should be considered when dystonia is rapidly progressive and disabling and when two or more drugs have failed to bring adequate relief of dystonia or the drugs are poorly tolerated. Loss of a major skill such as walking, manual ability, speech or feeding is a sign that functional neurosurgery should be considered.
Unfortunately, many forms of acquired dystonia that are associated with focal or generalised brain injury will preclude the use of DBS. Careful evaluation of potential DBS candidates in childhood should be performed by experienced teams with access to multi-disciplinary assessment and follow-up by psychology, occupational therapy, physiotherapy and speech and language specialists, particularly with regard to setting realistic pre-operative goals and measuring outcomes from a variety of functional assessment scales (Gimeno 2012, 2013, 2014). Detailed neuroimaging and neurophysiology evaluations are also mandatory prior to proceeding to DBS (McClelland 2011). However recent reports indicate that children with acquired dystonia can experience improved quality of life and achieve important goals after DBS (Gimeno 2012, 2013) as well as improved upper limb function (Gimeno 2013). An important area for all healthcare delivery is an appropriate understanding of functional priorities using a tool known as the Canadian Occupational Performance Measure (COPM) in children with dystonia, irrespective of cause (Gimeno 2013) and these can then be quantified in terms of performance and satisfaction before and after an intervention such as DBS (Gimeno 2014). Such approaches follow the WHO International Classification of Function (ICF) which focuses on ‘activity’ and ‘participation’ rather than simply focussing on the impairment measure i.e. just measures of dystonia.
For generalised dystonias, while therapeutic handling strategies can be useful, they tend not to have carryover (i.e. when the therapist releases their handling, the dystonic posture/movement tends to return). Physiotherapists usually have a wider, more supportive role including:
- Supporting patient, parents and carers in other settings (e.g. school) about aspects including handling, positioning, and adapting activities to promote active participation.
- Advising on general and specific exercise to maintain general health and well being or to address specific goals such as reducing pain/discomfort, strengthening and range of movement.
- Promoting functional mobility and advising on equipment such as seating, wheelchairs, mobility aids, leisure equipment.
- Identifying issues which may warrant referral to other services such as Orthopaedics for management of contracture and deformity.
Due to the specialised nature of dystonia, this treatment needs to be provided by a neurophysio-therapist familiar with the condition.
Dystonia is not a mental health condition but it can cause severe depression and anxiety both due to the pain, stigma and social isolation of the condition and prevalence of mental health problems among people with dystonia is high. There is also evidence that dystonia can affect mental health even before physical symptoms appear. Psychological therapies such as cognitive behavioural therapy (CBT) and counselling can therefore play an important role. In addition, as stress and anxiety can exacerbate the physical symptoms of dystonia, effective management of these can also improve the outcome of physical treatment.
Pain resulting from dystonia can be in the muscles affected by spasms, or in joints where bone
surfaces rub together due to twisting of posture or limbs. Sometimes, the resulting intractable pain
can dominate a patient’s life and may be unresponsive to medication including that used to manage dystonia. Among those with generalised dystonia, a high prevalence of substantial pain is reported. Referral to pain management programmes has been shown to be effective for treatment of chronic
pain caused by conditions such as dystonia.
Speech and language therapy
A number of dystonias can affect speech. Where speech difficulties occur referral should be made to a speech and language therapist (SALT):
- Patients with spasmodic dysphonia (laryngeal dystonia) will be given techniques to help them speak. These can include breathing exercises and ways to make best use of the voice and sound they have.
- Those with oromandibular and lingual dystonias with articulation difficulties can be given mouth and swallowing exercises to help them reduce the risk of choking by chewing and swallowing safely.
Dystonia onset before puberty is particularly disruptive to a child’s growth and development. Any growth spurt such as occurs at puberty may accelerate the appearance of contracture and deformity which further diminishes function and limits opportunity.
Children with idiopathic or inherited dystonia may need to be referred to other specialist departments for treatment for conditions that result from dystonia (e.g. musculoskeletal and orthopaedic problems). It is essential that full communication is established and maintained between the neurology/movement disorder team and these other specialist teams so that treatment is optimal and appropriate.
Close links must be forged with education services and a Statement of Special Educational Needs may be implemented to provide the child with the necessary support in school.
Last reviewed April 2014
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