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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
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Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic ApproachIn this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders
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Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables
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Parental work schedules and hours from a cross-national perspective: a welfare regime analysis on 29 countriesTechnological advances have transformed when and for how long individuals work, a process associated with increasing polarization and precarity. Using the European Working Conditions Survey (2005-2015), we examined parental work schedules and hours across welfare regimes covering 29 European countries.
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Sertraline for anxiety in adults with a diagnosis of autism (STRATA): study protocol for a pragmatic, multicentre, double-blind, placebo-controlled randomised controlled trialSelective serotonin reuptake inhibitors (SSRIs) are commonly prescribed to manage anxiety in adults with an autism diagnosis. However, their effectiveness and adverse effect profile in the autistic population are not well known. This trial aims to determine the effectiveness and cost-effectiveness of the SSRI sertraline in reducing symptoms of anxiety and improving quality of life in adults with a diagnosis of autism compared with placebo and to quantify any adverse effects.
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Psychosocial wellbeing, parental concerns, and familial impact of children with developmental coordination disorderDevelopmental Coordination Disorder (DCD) is a neurodevelopmental condition impacting motor skill acquisition and competence. While previous studies have identified adverse psychosocial outcomes in DCD, they are limited by small or population-screened, community-based samples.
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Risk of Hospitalizations Following Gastrostomy in Children with Intellectual DisabilityGastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI
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Prevalence of Motor Difficulties in Autism Spectrum Disorder: Analysis of a Population-Based CohortIn this population-based cohort that included 2,084 children with autism aged ≤6 years, over one-third met the criteria for motor difficulties
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Epidemiology of gastrostomy insertion for children and adolescents with intellectual disabilityGastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
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Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyThis study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives