Baseline Range of Motion, Strength, Motor Function, and Participation in Youth with Hutchinson-Gilford Progeria Syndrome.

AIMS: Limited information is available on impairments, activity limitations and participation restrictions in youth with Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic premature aging disease. The purposes were to: (1) describe range of motion (ROM), grip, pinch and quadriceps strength, functional balance, walking endurance, and gross motor limitations and participation restrictions; (2) evaluate the association between ROM impairments and age; and (3) evaluate the association between the Gross Motor Function Measure-88 (GMFM) scores and lower extremity (LE) ROM, quadriceps strength, and age. METHODS: Upper and LE ROM, grip, pinch and quadriceps strength, Timed Up and Go (TUG), Six Minute Walk Test, GMFM-88, and Canadian Occupational Performance Measure data were recorded for 38 participants with HGPS. RESULTS: All youth exhibited ROM impairments and most displayed decreased grip and pinch strength, walking endurance, and gross motor skills when compared to same-aged peers. However, the majority had good functional balance with TUG scores in the normal range. Participation restrictions included difficulty keeping up with peers when walking and difficulty completing activities of daily living. Some ROM measurements were negatively associated with age indicating that older participants had more extensive ROM limitation than younger participants. CONCLUSIONS: Physical and occupational therapists can use this information when evaluating youth with HGPS, designing a plan of care, and providing treatment interventions.

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein, progerin. This multisystem disorder causes failure to thrive and accelerated atherosclerosis leading to early death. Farnesyltransferase inhibitors have ameliorated disease phenotypes in preclinical studies. Twenty-five patients with HGPS received the farnesyltransferase inhibitor lonafarnib for a minimum of 2 y. Primary outcome success was predefined as a 50% increase over pretherapy in estimated annual rate of weight gain, or change from pretherapy weight loss to statistically significant on-study weight gain. Nine patients experienced a ≥50% increase, six experienced a ≥50% decrease, and 10 remained stable with respect to rate of weight gain. Secondary outcomes included decreases in arterial pulse wave velocity and carotid artery echodensity and increases in skeletal rigidity and sensorineural hearing within patient subgroups. All patients improved in one or more of these outcomes. Results from this clinical treatment trial for children with HGPS provide preliminary evidence that lonafarnib may improve vascular stiffness, bone structure, and audiological status.

A Pediatric Hospital Physical Therapy and Occupational Therapy Department's Response to COVID-19: An Administrative Case Report.

OBJECTIVE: The purpose of this case report is to describe the challenges that COVID-19 presented for therapists in a pediatric hospital and the response to these challenges. METHODS: The case report setting is a physical therapy and occupational therapy department (department) of an academic pediatric medical center that provides a range of health care services for children and youth. Challenges that COVID-19 presented to the department included (1) managing safety concerns for patients, their families, and staff; (2) continuing to provide high-quality therapy services within state-mandated restrictions; (3) triaging patients; and (4) keeping clinicians employed and working productively. RESULTS: The department therapists responded to these challenges by (1) increasing communication huddles; (2) developing procedures for staffing and triaging of patients; (3) developing procedures for telehealth therapy services; and (4) designing a remote work program for all department employees. The number of patients and staff on site were reduced by initiating telehealth services, triaging patients, and developing a remote work plan. Communication huddles, department meetings, and supervision meetings were converted to virtual meetings. Staffing rates, patient-care productivity, and department project work were maintained. CONCLUSION: In response to COVID-19, the department developed new protocols and provided information about the protocols, which might be helpful for other pediatric hospitals or outpatient settings when planning for future pandemics or other issues that challenge the ability to provide usual care. Increasing the frequency of verbal and written communication on operational topics is recommended. Primary sources of information from national organizations (eg, the American Physical Therapy Association and the American Occupational Therapy Association) can assist with determining the scope of practice and code of conduct during a pandemic. IMPACT: COVID-19 posed challenges to operations and delivery of patient care. Although this case report is specific to COVID-19, principles applied and lessons learned from this experience can be applied to other emergency situations.

Examination of the torque required to passively palmar abduct the thumb CMC joint in a pediatric population with hemiplegia and stroke.

Many activities of daily living involve precision grasping and bimanual manipulation, such as putting toothpaste on a toothbrush or feeding oneself. However, children afflicted by stroke, cerebral palsy, or traumatic brain injury may have lost or never had the ability to actively and accurately control the thumb. To translate insights from adult rehabilitation robotics to innovative therapies for hand rehabilitation in pediatric care, specifically for thumb deformities, an understanding of the torque needed to abduct the thumb to assist grasping tasks is required. Participants (n=16, 10 female, 13.2±3.1 years) had an upper extremity evaluation and measures were made of their passive range of motion, anthropometrics, and torques to abduct the thumb for both their affected and non-affected sides. Torque measures were made using a custom wrist orthosis that was adjusted for each participant. The torque to achieve maximum abduction was 1.47±0.61inlb for the non-affected side and 1.51±0.68inlb for the affected side, with a maximum recorded value of 4.87inlb. The overall maximum applied torque was observed during adduction and was 5.10inlb. We saw variation in the applied torque, which could have been due to the applied torques by the Occupational Therapist or the participant actively assisting or resisting the motion rather than remaining passive. We expect similar muscle and participant variation to exist with an assistive device. Thus, the data presented here can be used to inform the specifications for the development of an assistive thumb orthosis for children with "thumb-in-palm" deformity.

A pediatric robotic thumb exoskeleton for at-home rehabilitation: the Isolated Orthosis for Thumb Actuation (IOTA).

In this paper, we present the design of a thumb exoskeleton for pediatric at-home rehabilitation. Pediatric disorders, such as cerebral palsy (CP) and stroke, can result in thumb in palm deformity greatly limiting hand function. This not only limits children's ability to perform activities of daily living but also limits important motor skill development. Specifically, the device, dubbed IOTA (Isolated Orthosis for Thumb Actuation) is a 2-DOF thumb exoskeleton that can actuate the carpometacarpal (CMC) and metacarpalphalangeal (MCP) joints through ranges of motion required for activities of daily living. The device consists of a lightweight hand-mounted mechanism that can be custom secured and aligned to the wearer. The mechanism is actuated via flexible cables that connect to a portable control box. Embedded encoders and bend sensors monitor the two degrees of freedom of the thumb and flexion/extension of the wrist. Using this platform, a number of control modes can be implemented that will enable the device to be intuitively controlled by a patient to assist with opposition grasp, fine motor control, and ultimately facilitate motor recovery. We envision this at-home device augmenting the current in-clinic therapy and enabling tele-rehabilitation where a clinician can remotely monitor a patient's usage and performance.