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CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.
To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals.
Use of patient-reported outcome measures in clinical settings facilitate the delivery of better health care to improve patient health outcomes.
This study adds to existing evidence that the rate of pre-existing psychiatric disorders in mothers of children with autism spectrum disorder is higher than...
Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
Our objective is to synthesize the best available evidence to determine the incidence and prevalence of falls in intellectually disabled adults in the community
Wearable motion sensors, specifically, Inertial Measurement Units, are useful tools for the assessment of orientation and movement during sleep. The DOTs platform (Xsens, Enschede, The Netherlands) has shown promise for this purpose. This pilot study aimed to assess its feasibility and validity for recording sleep biomechanics.
Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
Sleep problems occur in up to 20%-45% of adolescents. This systematic review and meta-analysis examined the effectiveness of digital sleep interventions, based on cognitive behavioural therapy for insomnia, for adolescents with insomnia symptoms. The objective was to synthesise and quantify, through meta-analyses, changes in sleep following completion of a digital sleep-based intervention.
Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...