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Mode of delivery and behavioral and neuropsychological outcomes in children at 10 years of age

Previous studies have reported that mode of delivery, particularly cesarean delivery is associated with neurodevelopmental outcomes in children. This study evaluates behavioral and neuropsychological test scores in children based on mode of delivery.

Using Focussed Ethnography to Observe and Understand the Actions and Interactions of People With Prader-Willi Syndrome When They Exercise at a Community Gym: A Protocol

Exercise for people with Prader-Willi syndrome (PWS) is important for their health and wellbeing and can provide opportunities for community participation. However, they may find it difficult to participate in some contexts, such as community gyms because social and environmental barriers in these settings may compound difficulties caused by physical impairments or intellectual disability.

Information overload and parental perspectives on information provided to parents/carers of paediatric patients undergoing elective surgical procedures

When parents are expected to play a significant role in the management of their children's health perioperatively, information overload for parents could have particularly detrimental consequences. Our study investigated information communication and overload in 380 parents of children undergoing any elective surgical procedure at our institution. 

Propofol, Anesthesia, and Neurocognitive Outcomes in Patients with Pediatric Leukemia: Are We Missing the Forest for the Trees?

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant

Investigating the Feasibility and Acceptability of a Facebook Delivered, Parent Mediated, Physical Activity Intervention for Children with Developmental Coordination Disorder

Children with Developmental Coordination Disorder (DCD) experience difficulties performing fundamental movement skills, resulting in reduced physical activity (PA). Given low PA can impact mental and physical health, improving PA in DCD appears imperative. This study investigates the feasibility of a Facebook delivered, parent mediated, PA intervention for children with DCD.

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.

Tapasin assembly surveillance by the RNF185/Membralin ubiquitin ligase complex regulates MHC-I surface expression

Immune surveillance by cytotoxic T cells eliminates tumor cells and cells infected by intracellular pathogens. This process relies on the presentation of antigenic peptides by Major Histocompatibility Complex class I (MHC-I) at the cell surface. The loading of these peptides onto MHC-I depends on the peptide loading complex (PLC) at the endoplasmic reticulum (ER).

A Lifeline to Fill the Silence of Homelessness: Person-Centered Analysis of Digital Coping and Links to Mental and Physical Health

Individuals experiencing homelessness are among the most vulnerable population for mental and physical health disparities. Despite navigating numerous stressors on a day-to-day basis, they are vastly underrepresented within coping research. Using a person-centered approach, this study addresses ways in which technology is leveraged to manage ongoing stressors associated with the experience of homelessness.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.  

Autistic and autism community perspectives on infant and family support in the first two years of life: Findings from a community consultation survey

Most support programmes for Autistic children are available only after they are diagnosed. Research suggests that parenting supports may be helpful for parents and their infants, when provided in the first 2 years of life - before a formal diagnosis is given, but when information suggests an infant is more likely to be Autistic. However, we do not know how acceptable these types of supports might be to the Autistic and autism communities.