Endophenotyping social cognition in the broader autism phenotype.

Relatives of individuals with autism spectrum disorder (ASD) may display milder social traits of the broader autism phenotype (BAP) providing potential endophenotypic markers of genetic risk for ASD. We performed a case-control comparison to quantify social cognition and pragmatic language difficulties in the BAP (n = 25 cases; n = 33 controls) using the Faux Pas test (FPT) and the Goldman-Eisler Cartoon task. Using deep phenotyping we then examined patterns of inheritance of social cognition in two large multiplex families and the spectrum of performance in 32 additional families (159 members; n = 51 ASD, n = 87 BAP, n = 21 unaffected).

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.

Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the "Broader Autism Phenotype" (BAP) in large multiplex ASD families using a novel endophenotype approach for the identification and characterisation of distinct BAP endophenotypes. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 110 individuals, including two large multiplex families (Family A: 30; Family B: 35) and an independent sample of small families ( = 45).

Individual Differences in Intrinsic Brain Networks Predict Symptom Severity in Autism Spectrum Disorders.

The neurobiology of heterogeneous neurodevelopmental disorders such as Autism Spectrum Disorders (ASD) is still unknown. We hypothesized that differences in subject-level properties of intrinsic brain networks were important features that could predict individual variation in ASD symptom severity. We matched cases and controls from a large multicohort ASD dataset (ABIDE-II) on age, sex, IQ, and image acquisition site.

Individualised MRI training for paediatric neuroimaging: A child-focused approach.

Magnetic Resonance Imaging (MRI) in paediatric cohorts is often complicated by reluctance to enter the scanner and head motion-related imaging artefacts. The process is particularly challenging for children with neurodevelopmental disorders where coping with novel task demands in an unfamiliar setting may be more difficult due to symptom-related deficits or distress. These issues often give rise to excessive head motion that can significantly reduce the quality of images acquired, or render data unusable.

Quantifying individual differences in brain morphometry underlying symptom severity in Autism Spectrum Disorders.

The neurobiology of heterogeneous neurodevelopmental disorders such as autism spectrum disorders (ASD) are still unclear. Despite extensive efforts, most findings are difficult to reproduce due to high levels of individual variance in phenotypic expression. To quantify individual differences in brain morphometry in ASD, we implemented a novel subject-level, distance-based method on subject-specific attributes.

Different brain networks underlying intelligence in autism spectrum disorders.

There has been sustained clinical and cognitive neuroscience research interest in how network correlates of brain-behavior relationships might be altered in Autism Spectrum Disorders (ASD) and other neurodevelopmental disorders. As previous work has mostly focused on adults, the nature of whole-brain connectivity networks underlying intelligence in pediatric cohorts with abnormal neurodevelopment requires further investigation. We used network-based statistics (NBS) to examine the association between resting-state functional Magnetic Resonance Imaging (fMRI) connectivity and fluid intelligence ability in male children (n = 50) with Autism Spectrum Disorders (ASD; M = 10.

Screening Bilingual Preschoolers for Language Difficulties: Utility of Teacher and Parent Reports.

Purpose: The utility of parent and teacher reports for screening 3 types of bilingual preschoolers (English-first language [L1]/Mandarin-second language[L2], Mandarin-L1/English-L2, or Malay-L1/English-L2) for language difficulty was investigated in Singapore with reference to measures of reliability, validity, sensitivity, and specificity in an English-medium kindergarten setting.

Method: The index tests were teachers' ratings of the English language ability of 5-year-olds (N = 85) on the Bilingual Language Assessment Battery (BLAB): Preschool Teacher Report (Pua, Lee, & Rickard Liow, 2013) and parents' ratings of their child's home language ability (N = 78 English-L1, Mandarin-L1, or Malay-L1) on the BLAB: Preschool Parent Report (Pua, Lee, & Rickard Liow, 2013). The reference standards were objective measures of single-word receptive vocabulary (80 items) and expressive vocabulary (140 items) in the child's L1 and L2, as proxies for language ability.

Cognition, brain atrophy, and cerebrospinal fluid biomarkers changes from preclinical to dementia stage of Alzheimer's disease and the influence of apolipoprotein e.

Background: Knowledge of Alzheimer's disease (AD) manifestation in the pre-dementia stage facilitates the selection of appropriate measures for early detection and disease progression.

Objective: To examine the trajectories of cognitive performance, gray matter volume (GMV), and cerebrospinal fluid (CSF) biomarkers, together with the influence of apolipoprotein E (APOE) in subjects with amyloid-β (Aβ) deposits across the pre-clinical to dementia stages of AD.

Methods: 356 subjects were dichotomized into Aβ+ and Aβ- groups based on their CSF Aβ1-42 level.