Treatment of Disorders of Tone and Other Considerations in Pediatric Movement Disorders.

Pediatric movement disorders (PMDs) consist of a heterogeneous group of signs and symptoms caused by numerous neurological diseases. Different neurological disorders in children also share overlapping movement disorders making a diagnosis of the underlying cause of the movement disorder challenging. The similarity of the symptoms across multiple disease types suggests that there may be a final common motor pathway causing the overlapping movement disorders. There are numerous disorders in children associated with disturbances in tone and involuntary movements. This chapter will focus primarily on those disorders that involve abnormalities of tone and other important considerations of pediatric movement disorders. This chapter will address rating scales and goals for treatment and will include a review of symptomatic treatment and, where possible, the treatment of the underlying disease processes. The chapter will review representative disorders, including an inborn error of metabolism, an autoimmune disorder, and a group of neurodegenerative disorders. These examples demonstrate how the disorder's underlying pathophysiology results in a specific approach to the underlying disease and the associated conditions of tone and involuntary movements. Finally, the multiple treatment options for cerebral palsy and considerations of cerebral palsy mimics will be discussed.

Transition of Children with Neurological Disorders.

PURPOSE OF THE REVIEW: The goal of the article is to describe a systematic approach through core principles and steps for the transition of the patient with a neurological disorder to the adult model of care, to provide steps and principles to help receiving providers successfully integrate the patient into their practice, and to discuss cultural, systemic, and discipline-based barriers to transition. RECENT FINDING: The literature has expanded rapidly. The recent publications help define the barriers to the process and are currently exploring the best methods to evaluate readiness, needs, barriers, and develop solutions for best practices. There is a consensus that there is a need for a systematic approach to transition and integration of the patient with a neurological disorder. The transition of the child and youth with special health care needs (CYSHCN) is complex with multiple barriers. An important concept is that these patients, their families, and medical care providers all benefit from a coordinated and collaborative methodology.

Transition From Pediatric to Adult Neurologic Care.

PURPOSE OF REVIEW: With advances in medical care, the number of youths surviving with medically complex conditions has been steadily increasing. Inadequate transition planning and execution can lead to gaps in care, unexpected emergency department visits, and an increase in health care costs and patient/caregiver anxiety. Many barriers that prevent adequate transition have been identified, including insufficient time or staff to provide transition services, inadequate reimbursement, resistance from patients and caregivers, and a dearth of accepting adult providers. RECENT FINDINGS: Transition is distinct from transfer of care. Transition is a planned multistage process, while transfer refers to a point in time where responsibility of care shifts from one provider to another. Key differences exist between the pediatric and adult models of care. A successful transition should empower the patient to understand and take responsibility in managing his or her condition; foster independent functioning to the extent that is possible; integrate educational, legal, and community resources in the care plan; and identify appropriate adult health care providers at the time of transfer. Different models have been proposed to streamline the transition process, with improvement in patients' knowledge of their condition, self-efficacy, and confidence. SUMMARY: Neurologists have a key role in supporting their patients in the transition to adulthood. This article reviews basic tenets and provides tools to assist in navigating the complex transition process. These tenets are intended to improve quality of care and decrease clinician burden and remain an active area of research.

Therapeutic interventions for tone abnormalities in cerebral palsy.

Cerebral palsy (CP) is a common cause of movement disorders in children. The upper motor neuron syndrome of CP leads to several types of muscle overactivity, including spasticity. Reduction of muscle overactivity may be an important treatment goal, to improve comfort, care, and active function and to prevent future musculoskeletal complications. After a comprehensive team evaluation, a treatment plan is generated. Treatments may include physical and occupational therapy, oral medications, botulinum toxin and/or phenol injections, intrathecal baclofen, selective dorsal rhizotomy, and orthopedic surgery. Successful and early prevention of contracture may reduce the need for later corrective surgery.

Management of spasticity in children with cerebral palsy.

As one component of the upper motor neuron syndrome, spasticity can have a significant functional impact on the child with cerebral palsy. Treatment planning requires the determination that excess tone interferes with some aspect of function, comfort, or care, and takes into consideration carefully devised goals that meet the needs of the patient and the caregiver. Treatment options include physical therapy, oral medications, chemodenervation with botulinum toxin or phenol, rhizotomy, intrathecal baclofen, and orthopedic surgery. The uses and limitations of each is discussed, and evidence for efficacy in cerebral palsy is reviewed.

Injectable neuromuscular blockade in the treatment of spasticity and movement disorders.

Neuromuscular blockade via injection of alcohol, phenol, or botulinum toxin reduces the tone of overactive muscles in order to restore the appropriate balance between agonists and antagonists. Such a restoration allows improved stretch and increased resting length and can reduce the likelihood of contracture. Alcohol or phenol, injected onto the motor nerve, denatures proteins and promotes axonal degeneration. The onset of action is within hours, whereas the duration of action is variable, ranging from 2 weeks to 6 months and beyond. The advantages of alcohol or phenol chemodenervation lie in their low cost and lack of antigenicity. The disadvantages include the technical difficulty of the injections and significant risk for pain as a result of treatment. Botulinum toxins, purified forms of Clostridium botulinum exotoxins, are injected directly into muscle, where they cleave one or more vesicle fusion proteins, thus blocking release of acetylcholine at the neuromuscular junction. Three commercial products--two of serotype A and one of B--are available. Each differs in its unit potency, side effects, and duration of action. On average, botulinum toxin has a clinical onset of action approximately 12 to 72 hours after injection, with a peak effect at 1 to 3 weeks. Effects then plateau for 1 to 2 months, with patients often requiring reinjection approximately every 3 months. Side effects may include local discomfort at the site of the injection and excessive weakness of the injected or nearby muscles, although more distant effects may occur. Antibody formation is a significant clinical concern and eventually obviates treatment benefit in approximately 5% of patients. Switching serotypes may be effective, at least temporarily. Consensus dosing guidelines have been developed and are presented within. Numerous studies have suggested that botulinum toxin has a role in the care of children with spasticity or dystonia related to cerebral palsy, and may improve equinus, gait, upper extremity use, comfort, and care. Evidence of functional improvement remains equivocal in the severely impaired child; however, there is evidence for improvement in less impaired children. The optimal candidate for injectable neuromuscular blockade is one who has a limited number of muscles that need treatment, who does not have fixed contracture, and who retains selective motor control. The ultimate goal of treatment for the hypertonic child is to maximize function, comfort, and independence. Hypertonia is only one aspect of the upper motoneuron syndrome, which includes both positive and negative symptoms. The treatment program, in which chemodenervation is only one tool, requires a multidisciplinary evaluation and individualized plan to address the whole patient.

Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literature.

We describe a dramatic case of an identical twin presenting at birth with unilateral congenital glaucoma. Because of the suspicion of neurofibromatosis 1 a magnetic resonance image of the neural axis was obtained, which revealed a plexiform neurofibroma with spinal cord impingement. Diagnosis of neurofibromatosis 1 was confirmed by 3 months of age with the emergence of café-au-lait spots. This case was compared with all 19 reports published in the English literature of neurofibromatosis 1 associated with congenital glaucoma. Initial presentation, family history, characteristics ofthe clinical syndrome, and outcome of glaucoma in infants with neurofibromatosis 1 and congenital glaucoma were reviewed. A plexiform neurofibroma of the ipsilateral eyelid was present in eight patients and ipsilateral facial hypertrophy occurred in three patients. Café-au-lait spots appeared between the ages of 5 weeks and 8 years; none of the patients were reported to have café-au-lait spots at birth. Newborns with unilateral congenital glaucoma should raise high suspicion for neurofibromatosis 1 and its associated findings, which might need immediate intervention.