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MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents' healthcare skills and needs is essential for improving children's health and developing effective support. In this study we aimed to (1) explore the health literacy skills of parents that enabled them to support the health needs of their child with intellectual disability and the factors influencing these skills, and (2) identify opportunities to support parent health literacy.
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
To evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries.
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.
While parenting self-efficacy and broader autism phenotype (BAP) have been linked to caregiver depression, anxiety and stress at specific points in time, their influence on longer-term mental health trajectories remains unknown, especially for caregivers who participate in support programs for their infants with very-early autistic features.
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.
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.
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.