Attending to Total Pain in Juvenile Huntington Disease: A Case Report Informed by Narrative Review of the Literature

Introduction

Huntington disease (HD) is an autosomal dominantly inherited disorder caused by an expansion of the CAG trinucleotide repeat on the gene encoding huntingtin protein. Disease onset most commonly occurs in the fourth to sixth decade of life. Juvenile Huntington disease (JHD), affecting fewer than 10% of all HD diagnosis, is defined as symptom onset occurring before age 20. ¹ Symptoms begin subtly with relentless developmental deterioration occurring over years. Due to the JHD impacting musculoskeletal, neurologic, sleep, nutrition, psychiatric, caregiver, and existential domains, the palliative care principles of total pain could be applied in caring for children with JHD. ²

Case Report

Our palliative care team was consulted for “complex pain management” for an animal-loving, football-playing 6-year-old boy. His father had recently died from HD and his half-sister died from JHD. Our patient had insomnia, texture sensitivity intolerant of clothing (would cover in soft blankets only), dysphagia progressing into gastrostomy tube dependence, advancing psychosis with hallucinations, intractable seizures, and painful spasticity. At age 12, family goals with the inclusion of child voice shifted toward comfort care with attentiveness to symptom management and compassionate discontinuation of artificial nutrition.

Care Interventions

Musculoskeletal

The juvenile form of HD is more likely to have rigidity/dystonia, with less chorea (Table 1). Our patient presented with rigid spasticity despite scheduled clonazepam, diazepam, and baclofen with tizanidine available as needed. The extent of hip spasticity required his family to carry him to the bathtub for toileting since his hips were too tight for abduction. Botox injected every 3 months improved hip movement for hygiene ability. Gabapentin and amitriptyline were added for the spasticity-induced neuropathic pain. A baclofen pump was successfully implanted with the goal of decreasing systematic medications to maximize times of relational interaction. By targeting the patient’s spasticity and neuropathic pain in a systematic approach, scheduled opiates were successfully weaned off but available as needed. Passive stretch and massage were the prioritized forms of care.

OPEN IN VIEWER

Table 1.

Symptoms Requiring Treatment in HD Versus JHD and their Common Therapies.

Symptom	HD	JHD	Treatment
Chorea	Common	Uncommon	aVMAT2 inhibitors: tetrabenazine, deutetrabenazine Typical neuroleptics: haloperidol, fluphenazine Atypical neuroleptics: risperidone, olanzapine
Spasticity	Uncommon	Common	Baclofen, tizanidine, diazepam, dantrolene
Rigidity/dystonia	Common in rigid/dystonic variant and late stage	Common	HD: benzodiazepines, baclofen, dopaminergics, Botulinum toxin injections JHD: carbidopa/levodopa Dopamine agonists: pramipexole, ropinirole Anticholinergic agents: trihexyphenidyl, benztropine botulinum toxin injections
Bradykinesia	Common in rigid/dystonic variant and late stage	Common	JHD: amantadine, carbidopa/levodopa
Tics	Less Common	Common	Benzodiazepines, SSRIs, neuroleptics, tetrabenazine
Myoclonus/tremor	Uncommon	Common	Clonazepam
Depression/anxiety	Common	Common	HD: antidepressants JHD: antidepressants, benzodiazepines, neuroleptics
Hallucinations/delusions	Uncommon	Uncommon	Neuroleptics
Mania	Less Common	Less Common	Anticonvulsants: divalproex sodium, lamotrigine, topiramate, carbamazepine
Obsessions/compulsions	Uncommon	Common	SSRIs, neuroleptics, clomipramine
Apathy	Common	Unknown	Antidepressants: SSRIs, buproprion Psychostimulants: methylphenidate, pemoline, dextroamphetamine
Perseveration/fixation	Common	Unknown	SSRIs, amantadine
Irritability	Common	Common	SSRIs: sertraline, fluoxetine, paroxetine benzodiazepines: clonazepam Anticonvulsants: divalproex sodium
Insomnia	Common	Common	Trazodone, quetiapine
Pain	Uncommon	Common	Acetaminophen, NSAIDs, gabapentin, opiates
Itching	Uncommon	Common	Gabapentin
Seizures	Uncommon	Common	Anticonvulsants

Abbreviations: FDA, Food and Drug Administration; HD, Huntington disease; JHD, juvenile Huntington disease; NSAID, nonsteroidal anti-inflammatory drug.

^aIndicates FDA-approved treatment of chorea.

Conclusion

Juvenile Huntington disease is a rare and devastating disorder with impact on all life domains for child and family caregivers. ⁸ When our pediatric palliative care team was introduced to this patient, his monotherapy plan was high-dose scheduled opiates. Early use of targeted delivery systems, such as injecting Botox and implanting a baclofen pump, decreased systemic opiate need. Targeting not just the physical pathways of suffering but the social domains such as tangible caregiver respite and sibling communication needs were essential care interventions. Lack of home nursing coverage compelled our team toward legislative advocacy for improved care for caregiver programs in our state. Attending to bereavement in the setting of 2 prior family deaths from HD and anticipatory grief for this child’s trajectory were necessary in approaching total pain. Early integration of the child’s voice in the form of developmentally informed advance care planning allowed the family to honor the child’s preferences in longitudinal goals of care. The chronic and degenerative nature of JHD afflicts the patient and family with what Dame Cicely Saunders defined as total pain, a suffering that encompasses all of a person’s physical, psychological, social, spiritual, and practical struggles. ² Without a cure for JHD, palliative care teams have the opportunity for skilled symptom targets and inclusion of total pain principles in this complex condition.