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Growth patterns in individuals with CDKL5 deficiency disorder

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth. 

Neurocognitive and self-reported psychosocial and behavioral functioning in siblings of individuals with neurodevelopmental conditions: a study using remote self-administered testing

This study compared and explored the neurocognitive profiles of siblings of persons with and without neurodevelopmental conditions (NDCs) and associations between objective test performance and self-reported psychosocial functioning. 

Participate CP 2: optimising participation in physically active leisure for children with cerebral palsy - protocol for a phase III randomised controlled trial

Children with cerebral palsy (CP) participate less in physical activities and have increased sedentary behaviour compared with typically developing peers. Participate CP is a participation-focused therapy intervention for children with CP with demonstrated efficacy in a phase II randomised controlled trial (RCT) to increase perceived performance of physical activity participation goals. This study will test the effectiveness of Participate CP in a multisite phase III RCT.

Robust and Interpretable General Movement Assessment Using Fidgety Movement Detection

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. 

Towards a harmonized bronchopulmonary dysplasia definition: a study protocol for an international Delphi procedure

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.

Profiling the Longitudinal Development of Babbling in Infants with Cerebral Palsy: Validation of the Infant Monitor of Vocal Production (IMP) Using the Stark Assessment of Early Vocal Development-Revised (SAEVD-R)

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.

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.

Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist.

Evaluation Tools Developed for Rett Syndrome

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.