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Research

Relationship Between Social Motivation in Children With Autism Spectrum Disorder and Their Parents

Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD and their parents from the Simons Simplex Collection (SSC) project was included in this study.

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Congenital anomalies in children with postneonatally acquired cerebral palsy: an international data linkage study

To describe the major congenital anomalies present in children with postneonatally acquired cerebral palsy (CP), and to compare clinical outcomes and cause of postneonatally acquired CP between children with and without anomalies.

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Comorbidities and quality of life in children with intellectual disability

Many children with intellectual disability live with medical comorbidities. This study examined the impacts of comorbidities on quality of life (QOL) of children with intellectual disabilities and whether impacts varied with caregiver perceptions that medical needs had been met.

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Maternal diet, depression and antidepressant treatment in pregnancy and across the first 12 months postpartum in the MPEWS pregnancy cohort study

There is increasing interest in the association between perinatal depression and diet including whether diet may have an impact on depressive symptoms and equally whether depression influences diet. Furthermore, whether pharmacological treatment of depression with antidepressant medication also may influence diet.

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Valproate and risk of fracture in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

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Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

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Impact of Neuritin 1 (NRN1) polymorphisms on fluid intelligence in schizophrenia

Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia.

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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide...

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Genome-wide association study identifies five loci associated with lung function

Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD).

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Fetal growth and risk of childhood Acute Lymphoblastic Leukemia

The relation between intrauterine growth and risk of childhood acute lymphoblastic leukemia was investigated in an Australian population-based case-control...