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Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene.

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Aim: To: (1) develop a core outcome set (COS) to assess chronic pain interference and impact on emotional functioning for children and young people with cerebral palsy (CP) with varying communication, cognitive, and functional abilities; (2) categorize the assessment tools according to reporting method or observer-reported outcome measures; and (3) categorize the content of tools in the COS according to the International Classification of Functioning, Disability and Health (ICF).

Despite growing evidence that parental work–family conflict (WFC) affects children’s emotional well-being, little is known about the multiple pathways underlying such effects. This study examines the association between parental WFC and children’s emotional well-being and the potential mediating role of parenting behaviors in this process.

CDKL5 Deficiency Disorder (CDD) is a rare neurodevelopmental disorder characterised by early onset seizures combined with complex healthcare needs and developmental impairment that influence functional domains including communication. Communication is a high priority domain for families but currently used measures demonstrate floor effects. 

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease-modifying clinical trials for DEEs should measurably capture a spectrum of caregiver priorities and be externally validated.

Developmental 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.