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Research

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome

The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome

Research

SCN1A Variants in vaccine-related febrile seizures: A prospective study

Pathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures

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Gender gaps in cognitive and social-emotional skills in early primary grades: Evidence from rural Indonesia

This paper examines the magnitude and source of gender gaps in cognitive and social-emotional skills in early primary grades in rural Indonesia. Relative to boys, girls score more than 0.17 SD higher in tests of language and mathematics (cognitive skills) and between 0.18 and 0.27 SD higher in measures of social competence and emotional maturity (social-emotional skills).

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A call for global action for rare diseases in Africa

The outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health

Research

The impact of influenza infection on young children, their family and the health care system

Influenza infection in young children has a significant impact on medication use, absenteeism and the use of health care service

Research

The Great Recession and Children’s Mental Health in Australia

This paper analyzes the effects of “shocks” to community-level unemployment expectations, induced by the Great Recession, on children’s mental well-being

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Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling

Research

Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?

Mental wellbeing was independently associated with academic achievement and perceived family support but not with physical health variables