The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual ce…
People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with the…
Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous s…
Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
depressive disorder, anxiety, and all musculoskeletal disorders apart from gout were the main conditions contributing ... higher age-standardised rat…
Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory…
Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of…
The level of mental health literacy (MHL) in adults who work with or care for children is likely to influence the timeliness and adequacy of support…
understanding trends and causes of autism spectrum disorders documenting a rise in common form of ... of first trimester screening for chromosomal di…
CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic test…