Accumulating evidence suggests that pregnancy does not protect women from mental illness. The aim of this study was to assess the prevalence, sociodemographic correlates, and the risks factors for perinatal depression and anxiety. Five hundred ninety women between 28th and the 32nd gestational weeks were recruited and submitted to a sociodemographic, obstetric, and psychological interview. The Edinburgh Postnatal Depression Scale (EPDS) and the state-trait anxiety inventory (STAI-Y) were also administered in antenatal period and 3 months postnatally. The Structured Clinical Interview for DSM-IV (SCID-I) was used to diagnose mood and anxiety disorders. Three months after delivery, EPDS was administered by telephone interview. Women with an EPDS score ≥10 were 129 in antenatal period (21.9%) and 78 in postnatal period (13.2%). During pregnancy 121 women (20.5%) were positive for STAI-Y state and 149 women (25.3%) for STAI-Y trait. The most important risk factors for antenatal depression are: foreign nationality, conflictual relationship with family and partner, and lifetime psychiatric disorders. The principal risk factors for postnatal depression are: psychiatric disorders during pregnancy and artificial reproductive techniques. Psychiatric disorders, during and preceding pregnancy, are the strongest risk factors for antenatal state and trait anxiety. Antenatal depressive and anxiety symptoms appear to be as common as postnatal symptoms. These results provide clinical direction suggesting that early identification and treatment of perinatal affective disorders is particularly relevant to avoid more serious consequences for mothers and child.
SUMMARYObstructive sleep apnoea episodes have been reported repeatedly in Down's syndrome (DS) patients as a consequence of the presence of predisposing malformations or intercurrent pathology of the upper airways. There are no data on respiratory patterns of uncomplicated Down's syndrome subjects. In order to evaluate the eventual effects of central nervous system (CNS) impairment on respiration in DS, we studied the respiratory patterns during sleep of a group of 10 DS subjects, aged 8.6-32.2 y, without relevant upper airway pathology. In order to control the possible effects of sleep structure and mental retardation on the results obtained, we compared the findings in DS with those obtained from a group formed by subjects affected by fragile X syndrome (six males and one female, aged 10.0-15.42 y), another genetically determined type of mental retardation. Sleep structure was similar in both groups; however, DS subjects showed significantly higher indices of central sleep apnoea and of oxygen desaturation than fragile X patients (P<0.005). As far as DS individuals were considered, a significant preponderance of central, as opposed to obstructive, sleep apnoeas was found (89.4% vs. 9.4%, respectively; 1.2% were mixed) which showed a significant age-related increase. Central respiratory pauses were mostly preceded by sighs, which occurred more frequently during sleep stages 1 and REM, and were often organized in long sequences of periodic-like breathing. During REM sleep, they were less frequently preceded by sighs and by body movements than during NREM sleep. Obstructive sleep apnoeas occurred more often during REM sleep and were more rarely preceded by sighs or by body movements. Both central and obstructive apnoeas induced significant oxygen desaturation in 50-69.6%. Sleep structure was not significantly modified by apnoeas and oxygen desaturation. We hypothesize that the increase in central sleep apnoeas is related to a dysfunction of the central respiratory control at a brainstem level in DS. brainstem, central sleep apnoea, Down's syndrome, obstructive sleep apnoea, respiratory pattern, sighs disturbances during sleep and morphological abnormalities
In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations. The latter are sufficient in causing the full clinical phenotype. The degree of intellectual disability (ID) appears to be milder than expected in a considerable number of subjects with either chromosome deletion or KANSL1 mutation. Striking clinical criteria for enrolling patients into KANSL1 analysis include speech delay, distinctive facial dysmorphism, macrocephaly and friendly behaviour.
SUMMARYThe authors report the study of a 30-month-old girl with refractory myoclonic epilepsy associated with mental retardation, growth delay, peculiar facial appearance, and minor physical anomalies. Extensive genetic studies were performed, including an array-based comparative genomic hybridization (array-CGH) that showed a cryptic interstitial deletion of 15q (5 Mb) affecting the 15q26.1-26.2 region. Partial deletions of the long arm of chromosome 15, including the 15q26 region, were observed in syndromic associations that typically include congenital diaphragmatic hernia, but neurologic features were poorly described and epileptic seizures were never reported. Our findings suggest that genes for seizures could be included in the 15q26.1q26.2 deletion interval.
We focused on carers of subjects suffering from eating disorders (ED), and studied the characteristics that mostly expose them to high levels of stress, anxiety, depression and expressed emotion, favoring the accommodation of the family system to the cared person. We administered the accommodation and enabling scale for eating disorders (AESED) questionnaire, the family questionnaire (FQ) and the depression, anxiety and stress scale (DASS-21) questionnaire to 97 carers of 62 ED patients, and investigated the carer's characteristics associated with the scores in the three questionnaires. A personal history of ED, being the primary carer, and caring for a person with a diagnosis of anorexia nervosa are the characteristics that contribute most to aggravate the carers' burden in terms of stress, anxiety, depression, accommodation and enabling. Our findings may help doctors to provide effective support to caregivers and eventually improve the treatment of subjects with ED.
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