Pediatric Movement Disorders

Abstract

On the basis of some research evidence and consensus, identification of acute opsoclonus, ataxia, or myoclonus should prompt consideration of an underlying neuroblastoma. On the basis of some research evidence and consensus, surgical treatment options should be considered for children with dystonia, including secondary dystonias, such as those related to cerebral palsy, and include intrathecal baclofen pumps and deep brain stimulation. On the basis of some research evidence and clinical experience, tetrabenazine may be effective in treating chorea. On the basis of strong research evidence, although seldom inherently dangerous, tics may be uncomfortable for affected children and interfere with academic achievement and social development. On the basis of some research evidence and clinical experience, topiramate may be an effective treatment for tic disorders.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

“…Pediatric movement disorders encompass a heterogeneous group of neurodevelopmental and neurodegenerative disorders affecting movement and limiting activities of daily living. 1 The etiology of many pediatric movement disorders remains uncharacterized at the current time. Epileptic-dyskinetic encephalopathies 2 (MIM: 308350) are a recently described class of disorders.…”

Paediatric deep brain stimulation

“…4 Depending on the body area affected, the muscle spasms can be painful and can severely impair an individual's ability to eat, speak or walk. 5,6 Childhood-onset dystonia also negatively affects growth, development, education and activity, and can lead to progressive disability and deformity. 3 Instances of uncontrolled, prolonged dystonia, known as status dystonicus or dystonic storm, are a medical emergency.…”

“…7 The intense, unremitting muscle contractions can cause breakdown of skeletal muscle and release of myoglobin into the bloodstream (rhabdomyolysis), which can result in kidney damage, multiorgan failure and death (in up to 10% of patients). [6][7][8] While the cause of dystonia is not fully understood, it is generally thought to result from abnormal functioning of the basal ganglia in the brain. 2,9 The younger a person is at symptom onset, the more likely the muscle spasms will spread to other parts of the body.…”

“…Children with acquired dystonia often have seizures or other neurodevelopmental disabilities. 6,11 Dyskinetic cerebral palsy, which is characterised by uncontrolled, abrupt twisting movements, is the most common cause of acquired dystonia in children and adolescents. 11,12 The prevalence of cerebral palsy is 1.7 to 3.1 per 1000 live births in high income countries, and the dyskinetic form accounts for up to 15% of these cases.…”

“…3,7 There are several pharmacological treatments for dystonia symptoms, including anticholinergic drugs, dopamine augmenting or suppressing agents, baclofen and benzodiazepines (usually in combination with other drugs such as baclofen). 4,6 The most common first-line treatment for segmental and generalised dystonias is high-dose trihexyphenidyl (an anticholinergic drug), but its efficacy is poorly documented in children and some studies have shown that children with dyskinetic cerebral palsy experience worsening of symptoms. 7,14,16 The side effects of anticholinergics include memory loss, confusion, restlessness, depression, dry mouth and constipation.…”