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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.

Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett Syndrome

Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear

Insulin Pump Therapy in Adolescents With Very Poor Glycemic Control During a 12-Month Cohort Trial

We conclude that insulin pump therapy can be an effective tool to improve glycemic control in adolescents with long-standing treatment resistance

Study protocol for the Australian autism biobank: an international resource to advance autism discovery research

The Australian Autism Biobank was initiated to establish a large-scale repository of biological samples and detailed clinical information about children diagnosed with ASD

Effect of 6 months hybrid closed-loop insulin delivery in young people with type 1 diabetes: a randomised controlled trial protocol

This is a randomised controlled home trial to test the MiniMed Medtronic 670G system in people with type 1 diabetes aged 12-25 years

Beyond the reactive-proactive dichotomy: Rage, revenge, reward, and recreational aggression predict early high school bully and bully/victim status

We discuss the implications of addressing Revenge and Recreation, as well as Reward and Rage aggression motives, for bullying prevention and intervention strategies

Social impairments in autism spectrum disorder are related to maternal immune history profile

this study is the first to show an association between immune activation history in the mother and increased ASD symptom severity in children with ASD

Childhood Maltreatment and Early Developmental Vulnerabilities at Age 5 Years

This study examined associations between maltreatment and early developmental vulnerabilities in a population sample of 68,459 children

How many doses make a difference? An analysis of secondary prevention of rheumatic fever and rheumatic heart disease

increased adherence to penicillin prophylaxis is associated with reduced acute rheumatic fever recurrence and a likely reduction in mortality