Search
Research
Patient and carer priorities for research and clinical care of children with Down syndromeDown syndrome, the most common genetic disorder, is caused by the presence of all or part of a third copy of chromosome 21. We identified the top 10 patient and carer research priorities for children with Down syndrome.
Research
The Definition of Cerebral PalsyCerebral palsy (CP) should not be considered as a diagnosis but as a label; it is an umbrella term, primarily affecting posture and mobility. The definition is not sufficiently precise to guarantee agreement as to which patients to include under this label, but the additional inclusion criteria required are not yet internationally standardised.
Research
Epidemiology of the Cerebral PalsiesEpidemiology of cerebral palsy (CP) aims to describe the frequency of the condition in a population and to monitor its changes over time, and a guide to the management of patients. Classification of CP is an important step toward describing more homogenous subgroups of persons with CP.
Research
Movement difficulties in children with neurodevelopmental disorders: considering a transdiagnostic approach to classificationChildren with neurodevelopmental disorders often experience difficulties in acquiring and executing movement skills. Although the motor profiles of neurodivergent children frequently overlap, rigid conceptual distinctions between diagnostic labels have been imposed by traditional categorical approaches to taxonomy. An alternative transdiagnostic approach is proposed to better represent the similarities between presentations.
Research
A Multisite Randomized Controlled Trial of Hand Arm Bimanual Intensive Training Including Lower Extremity for Children with Bilateral Cerebral PalsyTo test the efficacy of Hand Arm Bimanual Intensive Therapy Including Lower Extremity (HABIT-ILE) to improve gross motor function, manual ability, goal performance, walking endurance, mobility, and self-care for children with bilateral cerebral palsy.
Research
A pilot implementation study of a chronic pain core outcome set and decision tree for children and young people with cerebral palsyThis study aimed to (i) develop a decision tree to guide clinicians to use a core outcome set (COS) of chronic pain assessment tools specific to children and young people with cerebral palsy and (ii) pilot test the implementation of the decision tree and core set in clinical practice.
Research
Growth patterns in individuals with CDKL5 deficiency disorderAim: 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.
Research
Neurocognitive and self-reported psychosocial and behavioral functioning in siblings of individuals with neurodevelopmental conditions: a study using remote self-administered testingThis 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.
Research
Associations between genotype, phenotype and behaviours measured by the Rett syndrome behaviour questionnaire in Rett syndromeRett syndrome (RTT) is a rare neurodevelopmental disorder with developmental impairments, comorbidities, and abnormal behaviours such as hand stereotypies and emotional features. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed to describe the behavioural and emotional features of RTT.
Research
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyRett 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.