A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder of monoamine neurotransmitter synthesis that presents with a range of symptoms, including motor dysfunction and limited attainment of developmental motor milestones. The approval of eladocagene exuparvovec, a gene therapy for AADC deficiency with demonstrated efficacy for motor improvements, now expands the range of motor outcomes possible for patients with this disorder. However, recommendations and guidelines for therapy following treatment with gene therapy are lacking. To ensure patients can reach their full potential following treatment with gene therapy, it is essential they receive rehabilitation therapies designed specifically with their impairments and goals in mind. Therefore, we highlight specific rehabilitative needs of patients following gene therapy and propose a set of recommendations for the post-treatment period based on collective experiences of therapists, physicians, and caregivers treating and caring for patients with AADC deficiency who have been treated with gene therapy. These recommendations include a focus on periods of intensive therapy, facilitating active movements, training for functional abilities, cognitive and communication training, parent/caregiver empowerment, collaboration between therapists and caregivers to develop in-home programs, and the incorporation of supplemental forms of therapy that patients and their families may find more enjoyable and engaging. Many of these rehabilitative strategies may be employed prior to gene therapy. However, these recommendations will be valuable for therapists, caregivers, and wider treatment teams as they prepare for the post-treatment journey with these patients. Furthermore, the considerations and recommendations presented here may prove beneficial outside the AADC deficiency community as gene therapies and other treatments are developed and approved for other rare diseases.

Rehabilitation Outcomes in Children With Acute Flaccid Myelitis From 2014 to 2019: A Multicenter Retrospective Review.

BACKGROUND: Acute flaccid myelitis (AFM) is a childhood illness characterized by sudden-onset weakness impairing function. The primary goal was to compare the motor recovery patterns of patients with AFM who were discharged home or to inpatient rehabilitation. Secondary analyses focused on recovery of respiratory status, nutritional status, and neurogenic bowel and bladder in both cohorts. METHODS: Eleven tertiary care centers in the United States performed a retrospective chart review of children with AFM between January 1, 2014, and October 1, 2019. Data included demographics, treatments, and outcomes on admission, discharge, and follow-up visits. RESULTS: Medical records of 109 children met inclusion criteria; 67 children required inpatient rehabilitation, whereas 42 children were discharged directly home. The median age was 5 years (range 4 months to 17 years), and the median time observed was 417 days (interquartile range = 645 days). Distal upper extremities recovered better than the proximal upper extremities. At acute presentation, children who needed inpatient rehabilitation had significantly higher rates of respiratory support (P < 0.001), nutritional support (P < 0.001), and neurogenic bowel (P = 0.004) and bladder (P = 0.002). At follow-up, those who attended inpatient rehabilitation continued to have higher rates of respiratory support (28% vs 12%, P = 0.043); however, the nutritional status and bowel/bladder function were no longer statistically different. CONCLUSIONS: All children made improvements in strength. Proximal muscles remained weaker than distal muscles in the upper extremities. Children who qualified for inpatient rehabilitation had ongoing respiratory needs at follow-up; however, recovery of nutritional status and bowel/bladder were similar.

Catastrophic antiphospholipid syndrome (CAPS) induced by influenza A virus subtype H1N1.

Catastrophic antiphospholipid syndrome (CAPS) has been associated with several bacterial and viral infections. We presented a case report of a woman who presented to the emergency room, with influenza A virus subtype H1N1 which progressed to CAPS in the course of 17 days. We believe this is the first case that links CAPS with H1N1.

Motion in the unstable cervical spine when transferring a patient positioned prone to a spine board.

CONTEXT: Two methods have been proposed to transfer an individual in the prone position to a spine board. Researchers do not know which method provides the best immobilization. OBJECTIVE: To determine if motion produced in the unstable cervical spine differs between 2 prone logrolling techniques and to evaluate the effect of equipment on the motion produced during prone logrolling. DESIGN: Crossover study. SETTING: Laboratory. PATIENTS OR OTHER PARTICIPANTS: Tests were performed on 5 fresh cadavers (3 men, 2 women; age = 83 ± 8 years, mass = 61.2 ± 14.1 kg). MAIN OUTCOME MEASURE(S): Three-dimensional motions were recorded during 2 prone logroll protocols (pull, push) in cadavers with an unstable cervical spine. Three equipment conditions were evaluated: football shoulder pads and helmet, rigid cervical collar, and no equipment. The mean range of motion was calculated for each test condition. RESULTS: The pull technique produced 16% more motion than the push technique in the lateral-bending angulation direction (F1,4 = 19.922, P = .01, η(2) = 0.833). Whereas the collar-only condition and, to a lesser extent, the football-shoulder-pads-and-helmet condition demonstrated trends toward providing more stability than the no-equipment condition, we found no differences among equipment conditions. We noted an interaction between technique and equipment, with the pull maneuver performed without equipment producing more anteroposterior motion than the push maneuver in any of the equipment conditions. CONCLUSIONS: We saw a slight difference in the motion measured during the 2 prone logrolling techniques tested, with less lateral-bending and anteroposterior motion produced with the logroll push than the pull technique. Therefore, we recommend adopting the push technique as the preferred spine-boarding maneuver when a patient is found in the prone position. Researchers should continue to seek improved methods for performing prone spine-board transfers to further decrease the motion produced in the unstable spine.

Motion in the unstable thoracolumbar spine when spine boarding a prone patient.

INTRODUCTION: Previous research has found that the log roll (LR) technique produces significant motion in the spinal column while transferring a supine patient onto a spine board. The purpose of this project was to determine whether log rolling a patient with an unstable spine from prone to supine with a pulling motion provides better thoracolumbar immobilization compared to log rolling with a push technique. METHODS: A global instability was surgically created at the L1 level in five cadavers. Two spine-boarding protocols were tested (LR Push and LR Pull). Both techniques entailed performing a 180° LR rotation of the prone patient from the ground to the supine position on the spine board. An electromagnetic tracking device registered motion between the T12 and L2 vertebral segments. Six motion parameters were tracked. Repeated-measures statistical analysis was performed to evaluate angular and translational motion. RESULTS: Less motion was produced during the LR Push compared to the LR Pull for all six motion parameters. The difference was statistically significant for three of the six parameters (flexion-extension, axial translation, and anterior-posterior (A-P) translation). CONCLUSIONS: Both the LR Push and LR Pull generated significant motion in the thoracolumbar spine during the prone to supine LR. The LR Push technique produced statistically less motion than the LR Pull, and should be considered when a prone patient with a suspected thoracolumbar injury needs to be transferred to a long spine board. More research is needed to identify techniques to further reduce the motion in the unstable spine during prone to supine LR.