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An in-depth investigation of gene regulation and cell populations at sites of fetal blood-cell production provides clues as to why children with Down’s syndrome are predisposed to developing leukaemia.
Valid clinical outcome assessments with the ability to capture meaningful aspects of neurodevelopment for individuals with neurogenetic conditions associated with profound functional impairments are lacking, yet critical for clinical care and clinical trial readiness.
A growing number of genes have been identified in individuals with cerebral palsy; however, many of these studies have poor compliance with the cerebral palsy clinical description. This systematic review aimed to assess the quality of the cerebral palsy clinical description/phenotype in cerebral palsy genetic studies published between 2010 and 2024 and report clinically relevant genes based on the quality of the cerebral palsy phenotype.
Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations.
To report the prevalence of cerebral palsy (CP) in children with severe congenital heart defects (sCHD) and the outcome/severity of the CP.
Prechtl's General Movement Assessment (GMA) at fidgety age (3-5 months) is a widely used tool for early detection of cerebral palsy. Further to GMA classification, detailed assessment of movement patterns at fidgety age is conducted with the Motor Optimality Score-Revised.
People with intellectual disability experience a greater risk of maltreatment than people without intellectual disability. Maltreatment by family members presents additional risks, including greater possibilities for concealment. This scoping reviewResults were summarized in both narrative and tabular formats summarizes extant knowledge about the familial maltreatment of people with intellectual disability and identifies gaps in the literature.
To investigate the feasibility of implementing recommendations of the consensus statement for the Prevention and Management of Respiratory Disease in children with severe cerebral palsy (CP) via RESPiratory hospital Admissions in children with cerebral palsy: a feasibility randomized Controlled Trial (RESP-ACT).