Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. [PDF]
Schmidt HJD +11 more
europepmc +1 more source
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine +9 more
wiley +1 more source
Validation of Functional Lumen Imaging Probe Panometry Esophageal Motility Classification Version 2.0: A Study of 805 Patients. [PDF]
Fass OZ +9 more
europepmc +1 more source
Abstract Aim To develop consensus on a core set of standardized outcome measures to be applied to each domain of the previously developed core outcome set for lower limb orthopaedic surgery for ambulant children with cerebral palsy (CP). Method This work consisted of the following three steps: (1) a scoping review of the literature to identify ...
Hajar Almoajil +5 more
wiley +1 more source
Hereditary spastic paraplegia: from decades of therapy to future innovations. [PDF]
Cipriano L +2 more
europepmc +1 more source
This cross‐sectional study reports on the content and construct validity of the Both Hands Assessment (BoHA) for measuring bimanual performance in children and adolescents with bilateral cerebral palsy (MACS levels I–III), aged 18 months to 18 years. Abstract Aim To investigate the content and construct validity of the Both Hands Assessment (BoHA) for ...
Gøril Okkenhaug Johansen +5 more
wiley +1 more source
Changes in tibialis anterior muscle activity following tibial nerve block in adults with spastic equinovarus foot: an observational pilot study. [PDF]
Picelli A +7 more
europepmc +1 more source
Disproportional ventilatory response to incremental exercise in individuals with cerebral palsy
Individuals with cerebral palsy demonstrate a disproportionate ventilatory response during incremental exercise. Compared with typically developing peers, respiratory frequency increases earlier and at comparable exercise intensities, contributing to higher perceived exertion and reduced ventilatory efficiency. At task failure, respiratory frequency is
Linnéa Corell +14 more
wiley +1 more source
Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum. [PDF]
Toyoda N +12 more
europepmc +1 more source

