Intensification of anxiety, symptoms of depression, and level of social support among women in pathological pregnancy - a cross-sectional preliminary study.

INTRODUCTION AND OBJECTIVE: Women in pathological pregnancy are a group of patients especially exposed to the risk of occurrence of psychological complications. The aim of the study was assessment of the risk of depressive and anxiety disorders, and the relationship between the intensity of symptoms and social support. MATERIAL AND METHODS: The study group were 300 patients hospitalized in the Department of Pathology of Pregnancy. The study was conducted using the State-Trait Anxiety Inventory (STAI), the Hospital Anxiety and Depression Scale (HADS), the Inventory of Socially Supportive Behaviours (ISSB), and an author-constructed socio-demographic questionnaire. RESULTS: The level of State Anxiety (STAI) was higher in respondents from the study group, compared to the control group. The level of anxiety (HADS-A) was higher in the control group than in women from the study group. The level of social informational support was higher in those from the control group, compared to those from the study group. The level of emotional support was lower in respondents from the study group, compared to those from the control group. Instrumental support negatively correlated with the symptoms of depression among women in physiological pregnancy. The lack of evaluative support statistically significantly correlated with anxiety among women hospitalized before labour. CONCLUSIONS: The results obtained suggest the necessity for the substantive preparation of medical and psychological staff employed in departments of pathology of pregnancy to provide proper emotional and informational support for hospitalized women.

SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. Family based exome sequencing combined to careful parental phenotyping may reveal a more complex clinical picture in newly recognized syndromes. © 2016 Wiley Periodicals, Inc.