Background: Health-related quality of life (HRQoL) has emerged as a meaningful outcome measure in clinical trials and healthcare interventions in children with cerebral palsy (CwCP). We assessed the construct validity and internal consistency of the Italian version of the Paediatric QoL inventory (PedsQLTM) 4.0 Generic Core Scales (GCS) and PedsQLTM 3.0 Cerebral Palsy Module (CPM). Methods: A total of 125 CwCP and their parents were enrolled. Participants completed both the GCS and the CPM modules, and the results were compared to those of a sample of 121 healthy peers and their parents. The dimensionality of the two modules was assessed through exploratory factor analysis. Construct validity was assessed by a known-groups method evaluating the differences between CwCP and healthy sample. Results: Only a few GCS subscales were unidimensional, while all CPM subscales proved to be unidimensional, except for the Speech and Communication subscales of child self-reports. GCS internal consistency was good for all subscales of the parent proxy-reports, as well as for the Physical Activities and Psychosocial Health subscales of child self-reports. CPM internal consistency was good for both parent proxy-reports and—with a few exceptions—child self-reports. As for the PedsQLTM validity, the GCS proved effective in discriminating between CwCP and healthy participants; the CPM showed a significant association between lower neurofunctional abilities and lower HRQoL. Parent–child concordance shows that child self-report scores were always higher than the those of the proxy-reports for both the GCS and CPM modules. Conclusions: The present study confirms the internal consistency and construct validity of the Italian version of both PedsQLTM modules. In CwCP, greater functional disability resulted in lower HRQoL scores, and there was significant discrepancy between the parent and child ratings.
Background: Communication, language, and speech disorders are highly prevalent in children with cerebral palsy (CP) and substantially impact social, educational, and community participation. However, few studies have systematically characterized communicative and linguistic profiles using standardized assessments. This paper outlines the work of the ‘Italian CP & Language Network’ over the last two years, focusing on identifying research priorities, developing specialized assessment protocols, and proposing a shared classification system for speech and language disorders in children with CP. Methods: A survey was sent to 11 specialized centers to investigate clinical practices and assessment tools. Based on the results and an extensive literature review, the group developed three age- and complexity-based diagnostic protocols and a shared classification system. Results: The survey highlighted high variability in test selection, especially for speech and pragmatic assessment, and a significant need for ad hoc tools for augmentative and alternative communication (AAC). Three standardized protocols were defined: (1) early language (<48 months), (2) school-age language and pragmatics (4–12 years), and (3) minimally verbal children (6–12 years). A multi-level classification system for language and speech disorders was proposed to improve diagnostic consistency. Conclusions: Standardizing assessment is a critical step toward early identification of communicative vulnerabilities to guide tailored interventions and promote participation and quality of life across developmental stages. The group provides a framework for prospective multicenter data collection to correlate linguistic and speech phenotypes with neuroradiological features and motor outcomes.
Background: Disease-modifying therapies (DMTs) have transformed the natural history of spinal muscular atrophy (SMA) type 1, revealing heterogeneous developmental trajectories and renewing interest in cognitive and language outcomes beyond gross motor function. Within an embodied cognition framework, sensorimotor experience, object manipulation, and interactions with the environment may shape early cognitive development. This study aimed to describe the cognitive, language, and motor development of treated children with SMA type 1 and to explore associations between gross motor abilities and neurodevelopmental outcomes. Methods: A retrospective observational study included 32 children aged 18–30 months with confirmed SMA type 1. Participants were assessed using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) at baseline (T0) and both CHOP-INTEND and the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III) at the time of neurodevelopmental assessment (T1). Associations among Fine Motor, Cognitive, Language, and Gross Motor scores were examined using Spearman’s correlations and multivariable rank-based regression. Results: Fine Motor scores showed inter-individual variability and were correlated with Cognitive (ρ = 0.647, p < 0.001) and Language (ρ = 0.753, p < 0.001) scores. The association between Fine Motor and Cognitive performance remained robust even after adjustment for gross motor function, assessed by CHOP-INTEND, indicating that fine motor ability is linked to cognitive outcome irrespective of overall motor severity. Conclusions: In our cohort, fine motor ability was associated with cognitive and language outcomes, regardless of gross motor severity. These findings suggest the important role of neurodevelopmental components, beyond gross motor function alone, supporting their systematic integration into the clinical characterization of children with treated SMA type 1.
International contributions to the study of children with cerebral palsy (CP) highlight the complexity of the disorder and its impact on various adaptive f