Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation

Introduction: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment. Aims 1. Analyze how treatment adherence evolves through infancy, childhood, and early adolescence in individuals with PKU. 2. Identify early signs of treatment discontinuation. Methodology This longitudinal, retrospective study included 75 children diagnosed through newborn screening, ages 7 to 13 years. Data on blood Phe concentration, number of blood samples sent, proportion of samples with Phe concentrations over the recommended range, and number of visits to the metabolism clinic were recorded. Logistic regression analysis was used to identify the variables that predict treatment discontinuation before 13 years of age. Results: A progressive increase in mean blood Phe concentrations with age was identified. The greatest increase occurred between the first and second years of life. By age ten, mean Phe blood concentration of the group was above the recommended range. The proportion of samples with Phe concentrations over the recommended range also increased with age, from an average of 13% during the first year of life to 67% in early adolescence. Sixty-eight percent of the children attended the outpatient clinic and sent samples from birth to the time of the study. Individuals who discontinued follow-up showed significantly higher mean blood Phe concentrations (360 vs. 220.9 μmol/L; p = 0.004) and the proportion of samples over the recommended range (37% vs. 12% p = 0.002) was significantly higher during the second year of life. Mean age for children who discontinued treatment was 5.5 years of age. Blood Phe concentration values at 12 to 23 months of age and at 6 to 8 years of age significantly predicted treatment discontinuation before 13 years of age. Conclusion: Treatment adherence in PKU diminishes with age. Early signs of treatment discontinuation can be identified during the second year of life, allowing preventive interventions in high risk groups

The nature and mechanisms of subjective perceptions and their role in postnatal distress

© 2012 Dr. Soledad Coo CalcagniIntroduction: Existing models of biological and psychosocial risk factors for the development of postnatal distress have been criticized for not taking into account the subjective perception women have about their motherhood experience. When studied the role of subjective experiences was evaluated qualitatively. Using methods of Appraisal Theory and dream research as two distinctive quantitative approaches, this study explored the nature and mechanisms underlying the subjective experiences of expectant and new mothers, and its contribution to mood in the context of sleep. As a universal experience in this group, sleep disruption facilitates the study of the interaction between objective and subjective components. Methods: During the third trimester of pregnancy (Time-1), 122 healthy, low-risk women completed questionnaires on mood, appraisal, and sleep. Among them, 96 completed the same questionnaires within 7 to 15 days after childbirth (Time-2), and 101 at 10-12 weeks postpartum (Time-3). A subsample of 25 women provided additional objective sleep measures by wearing actigraphs for 7 continuous days at every assessment time to conduct Study 1 (Sleep Study), whereas data from the general sample (i.e. 122 women) were used to conduct Study 2 (Appraisal Study). A different subsample of 20 participants provided dream reports for 7 days at Time-1 and Time-3 for Study 3 (Dreams Study). Dream content was coded using the Hall and Van de Castle Coding System for Dreams. Results: In Study 1, low postnatal mood was associated with poor subjective – but not objective – sleep at the three assessments. At Time-2, however, less nocturnal objective sleep was also significantly associated with increased maternal distress. In Study 2, at all three assessment times high levels of distress were consistently associated with a low perceived ability to cope practically (PFCP) and emotionally (EFCP) with pregnancy and early motherhood. Additional Multiple Regression Analyses showed EFCP and negative expectations about the future (i.e. low Future Expectancy) to predict distress in subsequent assessments. Likewise, subjective reports of poor sleep quality and high sleep-related daytime dysfunction were significantly associated with low EFCP, PFCP and low Future Expectancy. In Study 3, the comparison of dream content against norms for a female population revealed a similar pattern of content for ante and postnatal dreams, which were characterized by a large percentage of family members, children, and baby characters; and a low percentage of friends. In addition, friendly interactions were more common than aggressive ones, sexual interactions were significantly lower, and the percentage of familiar settings was significantly smaller. Finally, antenatal – but not postnatal- dreams had significantly more references to the pregnant belly. Conclusion: The findings of Study 1 supported the discrepancy between objective and subjective observations and suggested that the conscious awareness of disrupted sleep and sleep-related daytime dysfunction makes a larger contribution to postnatal mood than actual sleep quantity and quality in a group of healthy women. Study 2 highlighted EFCP, PFCP, and Future Expectancy as the most significant appraisals involved in both distress and subjective sleep, thus contributing to a better understanding of the cognitive mechanisms involved in the subjective perception of these phenomena. Finally, Study 3 provided a description of the nature of the subjective experiences that may influence the appraisal of objective circumstances as well as description of the psychological processes that prepare pregnant women for a successful transition to motherhood

Perinatal distress: An appraisal perspective

© 2015 Society for Reproductive and Infant Psychology. Objective: The aim of this study was to identify the particular appraisals that shape maternal distress using the theoretical framework of Appraisal Theory of Emotions, which suggests that experienced emotions are triggered by the appraisal of specific situations. Background: Perinatal distress has been extensively studied. Symptoms range from mild to clinically significant. While major risk factors have been elucidated, cognitive components that may trigger distress need further clarification. Method: 122 women recruited during their third trimester of pregnancy completed measures of distress and appraisal during late pregnancy, within 7–10 days after delivery, and at 10–12 weeks postpartum. Mood scales included the Edinburgh Postnatal Depression Scale and the Depression, Anxiety and Stress Scale. Appraisal items addressed the experiences of pregnancy and motherhood. Results: Correlation and regression analyses showed a significant and stable association between symptoms of depression, anxiety and stress, and appraisals of low coping potential and future expectancy across the three assessment times. Low motivational congruence (incongruence) was associated with depression, anxiety, and stress during late pregnancy and the first days after childbirth, and with symptoms of depression at 10–12 weeks postpartum. Conclusion: In this sample of women experiencing low to moderate distress, findings suggest that the perceived ability to cope practically and emotionally with pregnancy and maternal-related issues, as well as pessimistic ideas about the future, form the core appraisal basis of perinatal distress. Implications for practice and intervention are discussed.peerreview_statement: The publishing and review policy for this title is described in its Aims & Scope. aims_and_scope_url: http://www.tandfonline.com/action/journalInformation?show=aimsScope&journalCode=cjri20status: publishe

Is maternal depression related to mother and adolescent reports of family functioning?

While adolescent-parent disagreements about family functioning are common, they may also be indicative of family members' health problems and may compromise adolescent adjustment. This study examines the association between maternal depressive symptoms and family functioning perceptions, considering both the adolescents' and their mothers' points of view. A sample of 943 Chilean dyads of adolescents (69% female, Mage = 14.43 years old) and their mothers (Mage = 43.20 years) reported their perceptions of family cohesion and adaptability. Mothers also reported their depressive symptoms. Results indicated that mothers perceived their family as more cohesive and more adaptable than their children. There was a negative association between maternal and adolescent reports of family cohesion and maternal depressive symptoms. In the mother' reports, this association depended on adolescent's age. In the case of adolescents' reports, this association depended on adolescent's gender. Finally, maternal depressive symptoms were a significant predictor of mother-adolescent agreement about family cohesion.Fondo Nacional de Desarrollo Cientifico y Tecnologico, Chile [FONDECYT] 11130041 FONDECYT 11170338 Ministry of Economy, Development and Tourism Innovation Fund for Competitiveness (FIC) through the Initiative Millennium Science Project IS130005 20150035 PII-CONICY

Metacognition modulates the relation between maternal severity of psychopathological symptoms and reported child symptoms.

In developmental psychology, one of the questions that garners the attention of clinicians and experimental psychologists is caregiver bias in child’s psychological problems reports. Different models suggested by developmental psychology (e.g. The Depression-distortion, Accuracy and Combinatory model), had discussed the relation between the mother’s objective description of a child’s mental state and the degree of bias in her report. Recent evidence suggests that such bias could respond to a deficit in the caregiver’s ability to access, monitor and regulate their own psychological contents. The hypothesis to investigate is if such ability in caregivers, known as metacognition, could modulate the quality of mental attributions in the children. To this end, we recruited 102 Chilean mothers-children dyads users of the public care system in the city of Santiago. In an experimental setting, we evaluated metacognition in the mother through a perceptual metacognition task in addition to different psychopathology questionnaires (SCL-90-R & STAI) and biological reactivity to stress (TSST). By questioning the mother, we also investigated her belief about psychological symptoms in the child (CBCL 1½ - 5). Our results indicate that maternal severity and quantity of symptoms predict maternal reports of problematic psychological states in their child only in caregivers who show low metacognitive efficiency. We conclude the article with a discussion of the link between metacognitive capacity and the ability to attribute mental states to third parties