1. Hartley SL, Barker ET, Baker JK, Seltzer MM, Greenberg JS. {{Marital Satisfaction and Life Circumstances of Grown Children With Autism Across 7 Years}}. {J Fam Psychol};2012 (Aug 6)
We examined the extent to which marital satisfaction across 7 years in 199 mothers was associated with the characteristics (gender, age, and intellectual disability status) of their adolescent or adult child with an autism spectrum disorder (ASD) and whether fluctuations in marital satisfaction covaried with the child’s autism symptoms, health, behavior problems, and closeness in the parent-child relationship. We also examined the impact of the departure of the adult child out of the family home on mothers’ marital satisfaction. The effect of family context variables including the presence of an additional child with a disability, maternal education, and household income on marital satisfaction were also examined. We found that closeness in the mother-child relationship and household income had a significant effect on level of marital satisfaction, and that variability in the slope of mothers’ marital satisfaction was significantly predicted by fluctuations in the behavior problems of the adolescent or adult child with an ASD. The grown child’s departure out of the family home was not related to change in marital satisfaction. Interventions aimed at managing the behavior problems of adolescents and adults with ASDs may help strengthen parents’ marital relationship. (PsycINFO Database Record (c) 2012 APA, all rights reserved).
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2. Maortua H, Martinez-Bouzas C, Calvo MT, Domingo MR, Ramos F, Garcia-Ribes A, Martinez MJ, Lopez-Ariztegui MA, Puente N, Rubio I, Tejada MI. {{CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain}}. {BMC Med Genet};2012 (Aug 6);13(1):68.
ABSTRACT: BACKGROUND: Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. METHODS: We performed mutation screening of CDKL5 in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (MECP2) mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the CDKL5 gene and their neighbouring sequences were examined, and CDKL5 rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA). RESULTS: Six previously unidentified DNA changes were detected, two of which were disease-causing mutations in the catalytic domain: a frameshift mutation (c.509_510insGT; p.Glu170GlyfsX36) and a complete deletion of exon 10. Both were found in patients with seizures that started in the first month of life. CONCLUSIONS: This study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age. This study also confirmed the usefulness of MLPA as a diagnostic screening method for use in clinical practice.
