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Showing results for "Neuromuscular disorders "

The relationship between non-communicable disease risk and mental wellbeing in adolescence: a cross-sectional study utilising objective measures in Indonesia

Risk factors for non-communicable diseases (NCDs, cardiovascular diseases, cancers, chronic respiratory diseases, diabetes, and mental disorders) ari…

Language and literacy in the context of early life adversity

This chapter considers the role of different forms of psychosocial adversity as risk factors for compromised language and literacy development in chi…

Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Ou…

Dental procedures in children with or without intellectual disability and autism spectrum disorder in a hospital setting

This population-based cohort study investigated dental procedures in the hospital setting in Western Australian children with or without intellectual…

Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent de…

Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factor

It is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conduc…

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was p…

International Rett syndrome study: InterRett

sleep disorders in Rett syndrome as well as the treatments being used to manage these disorders and ensuring ... Instruments to measure behaviour (e.…

Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorder

Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked develop…