(1) Background: Brain tumor (BT) survivors show difficulties in the acquisition of developmental milestones, related to academic achievement, vocational employment, social relationships, and autonomy. The skills underlying adaptive functioning (AF) are usually damaged in BT survivors due to the presence of the brain tumor, treatment-related factors, and other neurological sequelae. In this study, we aimed to explore the contribution of different cognitive factors in children with BT to AF, considering diagnosis-related variables. (2) Methods: Standardized cognitive assessment was undertaken and clinical information was collected from a retrospective cohort of 78 children with a BT, aged between 6 and 18 year old at the time of the assessment. Regression models were computed to investigate the influence of the selected variables on daily functional skills as measured by the Functional Independence Measure for Children (WeeFIM). (3) Results: The analyses showed that the main explanatory variables are processing speed and time since diagnosis. Other clinical variables, such as age at diagnosis and hydrocephalus, differentially influence functional skills according to distinct domains (i.e., self-care, mobility, and cognition). (4) Conclusions: The main explanatory variables of AF that emerged in our models point to a potential target of improving AF management in pediatric BT survivors.

Background/Objectives: Functional abilities are fundamental for social participation. However, functional abilities assessment tools validated for children and adolescents undergoing cancer treatment are lacking. A preliminary validation of the Gross Motor Function Measure-88 (GMFM-88) scale for children with cancer found that some items are unable to discriminate or distinguish between different gross motor function levels. This study aims to develop and validate the Functional Abilities Assessment in Paediatric Oncology (FAAP-O), starting with GMFM-88. Methods: This multicentre study (ClinicalTrials.gov Identifier: NCT04862130) involved children and adolescents (6 months–18 years old) diagnosed with cancer, in any phase of treatment or less than 1 year off therapy. A multiphase mixed-methods design was employed. The content validity of each item of GMFM-88 for the paediatric oncology population was calculated with the Content Validity Ratio (CVR). Items with a CVR score ≥ 0.70 were included in the FAAP-O scale. Other items with a score between 0 and 0.69 were selected for their relevance by consensus with five focus groups and a plenary meeting. The FAAP-O items set was organised in five dimensions by exploratory factor analyses. The calculation of FAAP-O internal consistency was made using Cronbach’s α while inter/intra-rater reliability was assessed by intraclass correlation coefficients (ICCs). Results: The study involved 217 subjects. The FAAP-O included 36 items; its internal consistency was good in each dimension (0.90 ≤ α ≤ 0.96) and its inter/intra-rater reliability was excellent (ICC > 0.90). Conclusions: A new specifically validated scale to assess functional abilities in children and adolescents with cancer is provided. Validated tools are necessary for specific, objective rehabilitation assessments, which are fundamental in clinical practice and research.

Background: Natural history data are crucial for supporting clinical trial readiness in muscular dystrophies. Multisystemic and slowly progressive diseases, such as myotonic dystrophy type 1 (DM1), require significant efforts to define the different aspects of evolution across multiple systems. Methods: Our study aimed to model the progression of different functions (namely, muscular, motor, and respiratory) over more than 20 years in 3 different DM1 subtypes (congenital, childhood, and adult forms) related to disease duration. Results: We defined disease progression curves of different functions (muscular assessed through MRC scale during 565 visits, motor assessed through MFM scale during 409 visits, and respiratory assessed through spirometry and nocturnal saturation during 533 visits) in 9 congenital, 25 childhood, and 45 adult form, related to disease duration through a linear mixed model. The shape and slope of the progression curves differ across phenotypes, with some functional domains showing earlier and steeper declines. Conclusion: The progression curves confirm some clinical observations: (1) the decline of the upper limbs’ strength is more evident in the distal portion; (2) the decline of the lower limbs is due to ankle muscles; (3) the lung restriction and nocturnal oxygen desaturation parallel obesity onset. In addition, they show that the D1 sub- scale of the MFM scale is the most affected functional motor parameter, with a trend of decline similar to the ankle strength and the 6-minute walking test. Taken together, our data provide important guidance for the design of future clinical studies in DM1.