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Determinants of sleep problems in children with intellectual disability

Children with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities.

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.

Topical antiseptics for chronic suppurative otitis media

The effectiveness and safety profile of antiseptics in the treatment of chronic suppurative otitis media is uncertain

Nature play and fundamental movement skills training programs improve childcare educator supportive physical activity behavior

Both the Nature play and fundamental movement skills professional development programs were effective in improving educators’ self-efficacy to engage children

Immunoinflammatory responses to febrile lower respiratory infections in infants display uniquely complex/intense transcriptomic profiles

the association between infant LRTI and risk for persistent wheeze/asthma in this cohort is generally stronger for fLRTIs than for other infection categories

The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children

MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Most clinical anti-EGFR antibodies do not neutralize both wtEGFR and EGFRvIII activation in glioma

We discovered a previously unknown major resistance mechanism in glioma in that most EGFR domain III-targeting antibodies do not neutralize EGFRvIII

An economic case for a vaccine to prevent group A streptococcus skin infections

A vaccine that prevents GAS cellulitis and other skin infections, in addition to throat infections, would maximise its value and commercial viability

Respiratory morbidity in Rett syndrome: An observational study

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization