1. Kovacs T, Bansagi B, Kelemen O, Keri S. {{Neuregulin 1-Induced AKT and ERK Phosphorylation in Patients with Fragile X Syndrome (FXS) and Intellectual Disability Associated with Obstetric Complications}}. {Journal of molecular neuroscience : MN}. 2014 Feb 23.
Animal models of fragile X syndrome (FXS) suggest the impairment of the intracellular AKT messenger system, which is activated by neuregulin 1 (NRG1), a key regulator of neurodevelopment. We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total AKT/ERK ratio in peripheral B lymphoblasts of patients with FXS, IQ-matched controls with intellectual disability (obstetric complications, preterm birth, perinatal hypoxia, and low birth weight), and typically developed healthy participants. Results revealed that patients with FXS displayed decreased AKT but normal ERK activation after the administration of NRG1. IQ-matched controls with intellectual disability displayed intact AKT/ERK activation. In conclusion, FXS, but not intellectual disability associated with obstetric complications, is associated with decreased NRG1-induced AKT phosphorylation.
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2. van den Bergh SF, Scheeren AM, Begeer S, Koot HM, Geurts HM. {{Age Related Differences of Executive Functioning Problems in Everyday Life of Children and Adolescents in the Autism Spectrum}}. {J Autism Dev Disord}. 2014 Feb 23.
Numerous studies investigated executive functioning (EF) problems in people with autism spectrum disorders (ASD) using laboratory EF tasks. As laboratory task performances often differ from real life observations, the current study focused on EF in everyday life of 118 children and adolescents with ASD (6-18 years). We investigated age-related and individual differences in EF problems as reported by parents on the Behavioral Rating Inventory Executive Functions (BRIEF: Gioia et al. in Behavior rating inventory of executive function. Psychological Assessment Resources, Odesse 2000), and examined the association with autism severity. Inhibition problems were mostly found in the youngest group (6- to 8-year-olds), whereas problems with planning where more evident for 12- to 14-year-olds as compared to 9- to 11-year-olds. In a subsample of participants meeting the ADOS ASD cut-off criteria the age related differences in planning were absent, while problems with cognitive flexibility were less apparent in 15- to 18-year-olds, compared to 9- to 11-, and 12- to 14-year olds. EF problems surpassing the clinical cutoff were only observed in 20 % (planning) to 51 % (cognitive flexibility) of the children and adolescents, and no relation was found with ASD symptom severity. This underlines the heterogeneous nature of ASD.
