Telerehabilitation offers a unique solution for continuity of care in pediatric rehabilitation under physical distancing. The major aims of this study were to: (1) describe the development of telerehabilitation usage guidelines in a large hospital in Israel, and to (2) evaluate the implementation of telerehabilitation from the perspectives of healthcare practitioners and families. An expert focus group developed guidelines which were disseminated to multidisciplinary clinicians. Following sessions, clinicians filled The Clinician Evaluation of Telerehabilitation Service (CETS), a custom-built feedback questionnaire on telerehabilitation, and parents completed the client version of the Therapist Presence Inventory (TPI-C) and were asked to rate the effectiveness of sessions on an ordinal scale. Four goals of telerehabilitation sessions were defined: (1) maintenance of therapeutic alliance, (2) provision of parental coping strategies, (3) assistance in maintaining routine, and (4) preventing functional deterioration. Principal Components Analysis was used for the CETS questionnaire and the relationships of CETS and TPI-C with child’s age and the type of session were evaluated using Spearman’s correlations and the Kruskal–Wallis H test. In total, sixty-seven telerehabilitation sessions, with clients aged 11.31 ± 4.8 years, were documented by clinicians. Three components (child, session, parent) explained 71.3% of the variance in CETS. According to therapists, their ability to maintain the therapeutic alliance was generally higher than their ability to achieve other predefined goals (p < 0.01). With younger children, the ability to provide feedback to the child, grade treatment difficulty and provide coping strategies to the parents were diminished. Families perceived the therapist as being highly present in therapy regardless of treatment type. These results demonstrate a potential framework for the dissemination of telerehabilitation services in pediatric rehabilitation.

Patients with single large-scale mitochondrial DNA (mtDNA) deletion syndromes (SLSMDs) usually present with multisystemic disease, either as Pearson syndrome in early childhood or as Kearns-Sayre syndrome later in life. No disease-modifying therapies exist for SLSMDs. We have developed a method to enrich hematopoietic cells with exogenous mitochondria, and we treated six patients with SLSMDs through a compassionate use program. Autologous CD34 + hematopoietic cells were augmented with maternally derived healthy mitochondria, a technology termed mitochondrial augmentation therapy (MAT). All patients had substantial multisystemic disease involvement at baseline, including neurologic, endocrine, or renal impairment. We first assessed safety, finding that the procedure was well tolerated and that all study-related severe adverse events were either leukapheresis-related or related to the baseline disorder. After MAT, heteroplasmy decreased in the peripheral blood in four of the six patients. An increase in mtDNA content of peripheral blood cells was measured in all six patients 6 to 12 months after MAT as compared baseline. We noted some clinical improvement in aerobic function, measured in patients 2 and 3 by sit-to-stand or 6-min walk testing, and an increase in the body weight of five of the six patients suffering from very low body weight before treatment. Quality-of-life measurements as per caregiver assessment and physical examination showed improvement in some parameters. Together, this work lays the ground for clinical trials of MAT for the treatment of patients with mtDNA disorders.

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