The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment.

BACKGROUND: Prader-Willi syndrome (PWS), a complex multisystem genetic disorder, is characterised by developmental abnormalities leading to somatic and psychological symptoms. Symptoms of PWS include infantile hypotonia and failure-to-thrive, followed by life-long hyperphagia, developmental delays and moderate-to-severe behavioural problems and several physical problems that impact health. This study examined the effects of caring for a child diagnosed with PWS on the mothers and unaffected siblings. We assessed overall family functioning, the mothers' psychological health, the psychosocial and behavioural functioning of siblings, and the quality of life of siblings. METHODS: Participants included 12 mothers and 13 siblings of a child with genetically confirmed PWS. Self-report measures administered to the mothers evaluated overall family functioning (PedsQL - Family Impact Module), the mothers' psychological health (Brief Symptom Inventory), and the mothers' perception of the sibling's quality of life (PedsQL - Parent Proxy). Self-report measures administered to the siblings evaluated their perceived quality of life (PedsQL) and symptoms of post-traumatic stress disorder (PTSD) (UCLA PTSD Index). RESULTS: Families/mothers/siblings with children with PWS showed poorer perceived quality of life compared with general inpatient and outpatient samples of children with complex health conditions. Families/mothers/siblings with children with PWS reported difficulties in family functioning, communication problems, and an increased number of conflicts. They appeared to be experiencing significant behavioural distress symptoms, with higher than average levels of depression and feelings of isolation, anger and worry. Ninety-two per cent of the siblings indicated moderate-to-severe symptoms of PTSD. Compared with normative populations, siblings demonstrated poorer quality of life, with mothers perceiving more significant deficits in the sibling. CONCLUSION: This study reaffirms that PWS affects the entire family system. Mothers and siblings would benefit from psychosocial support due to the multiple challenges of living with and caring for a child/young adult with PWS.

Psychological effects of hematopoietic SCT on pediatric patients, siblings and parents: a review.

Although hematopoietic SCT (HSCT) has become standard therapy for many life-threatening disorders of childhood, there is little research on the psychosocial ramifications of HSCT on patients, siblings and parents. Pediatric patients experience numerous psychological reactions throughout hospitalization, the procedure and recovery process: anxiety, depression, behavioral and social problems, and post-traumatic stress reactions. Similarly, sibling donors are at risk of developing emotional disturbances such as post-traumatic stress reactions, anxiety and low self-esteem. Parental distress, anxiety and depression levels are often increased as a result of their child undergoing the HSCT process. The distress and anxiety may be even greater for parents whose healthy child also becomes part of the HSCT process through donating their marrow. Thus, it is critical to develop interventions for pediatric patients and their families. There is, however, minimal research of interventions aimed at decreasing distress and improving emotional and psychosocial functioning for children undergoing HSCT, siblings and parents. Cognitive-behavioral interventions are the most researched treatment approaches for children with cancer and chronic illness and these are promising in improving emotional distress, compliance with treatment and behavioral problems associated with HSCT. Appropriate arenas in which pediatric patient interventions may focus include social skills and emotional well-being. Familial interventions that aim to enhance protective factors, improve communication, and decrease parental anxiety and depression are crucial, and cancer-specific interventions may serve as a template for the development of HSCT-specific interventions.

Executive functioning in children and adolescents with phenylketonuria.

This study addresses the effects of dietary adherence, phenylalanine (phe) levels, and age on performance of executive functioning (EF) tasks in children and adolescents with phenylketonuria (PKU). We herein collate formerly discrete findings to understand the relationship among actual clinical parameters and EF in PKU. Fifteen subjects (age range 8-20 years) with PKU were compared with the normative sample on the Delis-Kaplan EF Battery and on the Wechsler Abbreviated Scales of Intelligence to examine the relationship between EF skills, phe levels, age, and dietary adherence. At the time of the assessment, the mean age of participants was 14.8 years, mean lifetime phe levels ranged from 216 to 1200 microM (mean 594 microM); and concurrent phe levels ranged from 222 to 1730 microM (mean 660 microM). Children and adolescents with PKU showed lower performance in several EF skills: initiation of problem solving, concept formation, and reasoning. Performance on EF tasks requiring inhibitory control, cognitive flexibility and set shifting decreased at higher phe levels. Phe levels were positively correlated to age and inversely related to dietary adherence. We conclude that dynamic clinical parameters appear to govern EF in patients with PKU. We suggest that when adolescents decrease dietary compliance, changes in EF skills occur. Therefore, there is a need to specifically monitor EF skills in patients with PKU during the transition to, and during, adolescence.

Psychological complications of patients with Gaucher disease.

The Minnesota Multiphasic Personality Inventory (MMPI-2) is commonly used in chronic illness and chronic pain populations to assess psychological functioning. We report the results of the first study employing the MMPI-2 to assess psychological aspects of patients with Gaucher disease, type I (GD) is an inborn error of metabolism with unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood; the treatment is highly efficacious, but, that same treatment is intrusive and expensive and requires that patients restructure their work and personal schedules. In this study, 28 patients with GD completed the MMPI-2 and a background questionnaire. GD patients scored significantly higher than the MMPI-2 normative sample on MMPI-2 scales of Validity (K), Hypochondriasis (Hs), Depression (D), Hysteria (Hy), Psychasthenia (Pt) and Schizophrenia (Sc). Individuals with elevated scores on the Hs, D and Hy scales tend to have somatic concerns and depressed mood. Under stress, they are likely to report physical symptoms. Elevated Pt and Sc scales suggest psychological turmoil and, possibly feelings of isolation. An elevated K scale indicates a tendency for individuals to deny psychopathology. The length of time the patient with GD had been on enzyme replacement therapy was not significantly related to any of the 13 MMPI-2 scales. Cohorts of patients with chronic heart disease (CRHD) and cohorts of patients with chronic pain were utilized as comparative populations in this investigation. The elevated scores of the GD patients on MMPI-2 scales Hs, D and Hy were similar to those of the CRHD population. The chronic pain patients also showed elevations on MMPI-2 scales Hs, D and Hy, which were elevated in the GD patients; the elevations in the chronic pain patients were higher than those shown by the GD patients. We conclude that patients with GD exhibit moderate to severe psychological complications, similar to patients with other long-term chronic illnesses.

Psychosocial impact of pediatric BMT on siblings.

Although bone marrow transplantation (BMT) has become standard therapy for many life-threatening disorders of childhood, there is little research on the psychosocial impact of BMT on siblings of children undergoing BMT. Such siblings face issues common to any family with a chronic illness. However, the psychological impact on the family is intensified because two family members, usually children, are subjected to intrusive medical procedures. Investigators had earlier noted that sibling donors may be at risk for behavioral problems and anxiety, while nondonors may experience ambivalent feelings of disappointment and relief. It was suggested that psychosocial stages of BMT may parallel the medical transplant process, with high levels of stress experienced pre-BMT, during hospitalization, and post-discharge. Our own group has recently conducted more systematic investigations on the psychosocial effects of BMT on donor vs nondonor siblings of surviving pediatric BMT patients. We found that sibling donors showed significantly more anxiety, lower self-esteem, and more adaptive skills in school than nondonors. Nondonors, on the other hand, showed significantly more school problems. One third of the siblings in each group reported a moderate level of post-traumatic stress. Taken together, our research indicates that BMT affects the life of the child at home and at school and that post-traumatic stress symptomatology is a component of the psychological reaction in siblings. The psychosocial adjustment of siblings is a critical area of investigation in BMT populations. Parents need to know that the BMT process affects every member of the family system, and both parents and professionals need to direct more emotional support and attention to siblings. Studies are needed that focus on interventions designed to reduce levels of sibling psychosocial maladjustment. The psychosocial developmental model of post- traumatic stress disorder is a viable theoretical model that may be used to guide future research.

Psychosocial consequences of bone marrow transplantation in donor and nondonor siblings.

We investigated the psychosocial effects of bone marrow transplantation (BMT) on siblings of transplant recipients. We asked how donor siblings compared with nondonor siblings on quantitative measures of behavior, psychological distress, and sense of self. Participants included 44 siblings (21 donors and 23 nondonors, ages 6-18 yr) of surviving pediatric BMT patients. On self-report measures, donors reported significantly more anxiety and lower self-esteem than nondonors. On teacher-rated scales, donors showed significantly more adaptive skills in school. On these same scales, nondonors showed significantly more school problems than donors. One-third of the siblings in each group reported a moderate level of post-traumatic stress reaction. Exploratory multiple regression analyses point to factors that might influence sibling adjustment and suggest counseling strategies and avenues for future research.