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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.

Using a trauma informed practice framework to enhance understanding of and identify support strategies for behavioural difficulties in young people with Prader-Willi syndrome

Behavioural support for young people with Prader-Willi syndrome (PWS) is necessary in home and school environments. The Trauma Informed Practice (TIP) framework has been used to support young people with complex behavioural needs in school settings. To identify parent and professional perspectives on behavioural challenges experienced by young people with PWS and strategies for supports, to inform understanding of how they are aligned with the TIP framework.

Energy drink intake is associated with insomnia and decreased daytime functioning in young adult females

To investigate the association between energy drink (ED) use and sleep-related disturbances in a population-based sample of young adults from the Raine Study.

Enablers and barriers in dental attendance in Rett syndrome: an international observational study

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.

Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative review

We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review

Synthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age

The Brain Basis of Comorbidity in Neurodevelopmental Disorders

This review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights

Intraoperative neurophysiology monitoring in scoliosis surgery in children

Our study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children

Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort study

Conception within 12 months of a stillbirth was common and was not associated with increased risk of adverse outcomes in the subsequent pregnancy