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Research

Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening

Having good genetic knowledge may not be enough to understand core concepts of preconception carrier screening

Research

If it's about me, why do it without me? Genuine student engagement in school cyberbullying education

This study reports on a three-year group randomized controlled trial, the Cyber Friendly Schools Project, aimed to reduce cyberbullying among grade 8 students

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Investigating facial phenotype in autism spectrum conditions: The importance of a hypothesis driven approach

The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways.

Research

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder

In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician.

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Associations between school absence and academic achievement: Do socioeconomics matter?

School attendance should therefore be a priority for all schools, and not just those with high rates of absence or low average achievement.

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Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder

This study provides the first evidence for the association between restricted and repetitive behaviors and age of attainment of early motor milestones.

Research

Stillbirth and neonatal death rates across time: The influence of pregnancy terminations and birth defects in a Western Australian population-based cohort study

Changes in clinical practice related to pregnancy terminations have played a substantial role in shaping stillbirth and neonatal death rates in WA

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Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome

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Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

Research

Screening for rheumatic heart disease: Quality and agreement of focused cardiac ultrasound by briefly trained health workers

After brief training, health workers with no prior experience in echocardiography can obtain adequate quality images and make a reliable assessment