Search
Children with complex needs and severe disability may undergo gastrostomy insertion to support feeding difficulties. Parent education programs are critical components of clinical care pathways but there is little information on parent-reported educational needs. This study describes the collaborative process that yielded a resource to assist parents considering gastrostomy tube placement for their children, and the evaluation of the resource.
Besides motor impairments, up to 90% of the children and adolescents with unilateral cerebral palsy (uCP) present with somatosensory impairments in the upper limb. As somatosensory information is of utmost importance for coordinated movements and motor learning, somatosensory impairments can further compromise the effective use of the impaired upper limb in daily life activities.
CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.
Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the overall population. Many studies investigating the link between trisomy 21 and leukemia initiation and progression have been conducted over the last two decades.
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.
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.
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
Cerebral palsy (CP) is a lifelong physical disability, resulting from maldevelopment or damage to the developing brain. All children with CP have a disorder of movement and posture, but this is often accompanied by disorders of intellect, sensation, behaviour and epilepsy. Long-standing CP registers and surveillance systems estimate the prevalence of CP as approximately 2 per 1000 live births; however variations are seen over time and in different regions of the world.
Reading Disability is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies.