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Neuromuscular disorders can lead to nocturnal hypoventilation. Accurate diagnosis of hypoventilation is imperative to guide treatment decisions. This study determined interobserver agreement for a number of definitions of nocturnal hypoventilation in children and adolescents with neuromuscular disorders.
More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.
We compared early vocal development in children "at risk" for cerebral palsy (CP) with typically developing (TD) infants aged 6 to 15 months using the SAEVD-R, investigating potential pre-linguistic markers of communication impairment. Additionally, we sought to examine the agreement between the SAEVD-R and IMP, which uses parent report, in identifying departure from typical vocal development in at-risk infants.
Fidgety movements occur in infants between the age of 9 to 20 weeks post-term, and their absence are a strong indicator that an infant has cerebral palsy. Prechtl's General Movement Assessment method evaluates whether an infant has fidgety movements, but requires a trained expert to conduct it. Timely evaluation facilitates early interventions, and thus computer-based methods have been developed to aid domain experts.
Bronchopulmonary dysplasia (BPD) remains the most common complication of preterm birth with lifelong consequences. Multiple BPD definitions are currently used in daily practice. Uniformity in defining BPD is important for clinical care, research and benchmarking. The aim of this Delphi procedure is to determine what clinicians and researchers consider the key features for defining BPD.
The EQ-5D-5L is a generic health utility instrument for measuring health-related quality of life (HRQoL), with self-report and proxy report versions for children (EQ-5D-Y-5L). Children with intellectual disability (ID) are a heterogeneous population whose impairments and comorbidities place them at risk of poor HRQoL. This study aimed to describe the content validity and suitability for children with ID of a proxy report version of the EQ-5D-Y-5L as seen by their caregivers.
There are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers. However, instruments applied to quantify disease burden have not adequately captured the impact of these impairments on affected individuals and their families. Consequently, an international collaboration of stakeholders aimed at evaluating Burden of Illness in RTT was organized.
The CDKL5 Clinical Severity Assessment is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 deficiency disorder, a genetically caused developmental epileptic encephalopathy. The CCSA is divided into clinician-reported and caregiver-reported assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis and evaluate their validity and reliability.
CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.