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Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Greater understanding of the smallest meaningful improvements for individuals with CDD in clinical trials and practice is needed for a person-centred approach to treatment efficacy. This study explored how parent/caregivers of people with CDD understood meaningful improvements and described change for priority functional domains including communication, gross motor, fine motor, feeding.

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.

Despite decades of research, misconceptions about developmental dyslexia remain widespread among those responsible for identifying and supporting affected children. Identifying the nature and persistence of these beliefs is essential to improving practice and policy. We conducted a scoping review to map the understanding of developmental dyslexia among teachers, parents and clinicians by identifying their beliefs about its features and interventions.

Sleep disturbance is a common and significant issue for individuals with CDKL5 Deficiency Disorder (CDD) and their families. The study aimed to investigate experiences of sleep disturbance in CDD and associated factors.

This article discusses the important issue of the need for a stable definition of intellectual disability in order to allow comparisons by place and over time such as in the monitoring of this population's health needs and utilization. The aim of the new Australian National Centre for Intellectual Disability Health, established in 2023, is to ensure that all Australian children and adults with intellectual disability receive high-quality healthcare that meets their needs.

Speech and language therapists' (SLT) practice with cultural and linguistic diverse (CALD) populations with acquired and congenital neurogenic communication disorders in Denmark and Sweden is becoming more urgent due to demographic changes.

Menstruation can be complex and challenging to manage, including for those with intellectual disability. People with intellectual disability experience additional barriers that prevent adequate access to information and support. Parents play an important role in supporting young people with intellectual disability with menstruation.

Many children and their families, especially those from priority populations, experience barriers to accessing high-quality early childhood health, education, social and legal services. Further, these families are often under-represented in service planning and research; hence innovations are not designed to meet their needs. Our aim is to codesign with families and the wider community, a Strength-based, Tiered, Accessible Resources and Supports for Kids (STARS for Kids) programme to optimise child development, parental mental well-being, and family psychosocial needs in the first 2000 days from pregnancy to start of school

Asparaginase is a critical component of modern multi-agent chemotherapy regimens for paediatric acute lymphoblastic leukaemia and lymphoblastic lymphoma, with inadequate exposure leading to inferior patient outcomes.