ABSTRACT
PURPOSE: This study investigated two of the stresses experienced by parents caring for offspring with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in Western Australia, and identified their coping strategies. METHODS: Parents of 19 offspring with AS and PWS participated in the Family Stress and Coping Interview which provides a stress level score, and a discussion of stressors and coping methods associated with 24 life situations, two of which are reported. All text was examined using directed content analysis. RESULTS: Family carers (14/19) reported high stress associated with the initial diagnosis of AS or PWS in their offspring; and finding time for themselves. Stressors identified included lack of quality information about the disorder, time constraints and physical and emotional tiredness. Parents adopted a variety of coping strategies, including learning about the disorder, accepting the situation, seeking instrumental and social supports and dealing with problems. CONCLUSIONS: No specific coping strategy was associated with reduced stress. However, parents felt that accurate and timely information during the diagnostic period helped. Parents used family and community support although there were difficulties accessing respite care. It is advised that government agencies, service providers, family members and peer support associations should provide practical and emotional support to assist the parents of offspring with AS and PWS, and indeed any form of intellectual disability, across the lifespan. Implications for Rehabilitation Long-term caring for offspring with AS or PWS can involve considerable stress for parents. Stress has been associated with poorer health outcomes for parental carers. Parents need a variety of practical and emotional supports to cope with stress, including timely access to information.
Subject(s)
Angelman Syndrome/nursing , Parents/psychology , Prader-Willi Syndrome/nursing , Stress, Psychological/psychology , Access to Information , Adaptation, Psychological , Adult , Angelman Syndrome/rehabilitation , Child , Female , Humans , Interview, Psychological , Male , Middle Aged , Prader-Willi Syndrome/rehabilitation , Social Support , Western AustraliaABSTRACT
BACKGROUND: Parenting stress has been consistently reported among parents of children with developmental disabilities. However, to date, no studies have investigated the impact of a molecular subtype of Angelman syndrome (AS) on parent stress, despite distinct phenotypic differences among subtypes. METHOD: Data for 124 families of children with three subtypes of AS: class I and II deletions (n = 99), imprinting centre defects (IC defects; n = 11) and paternal uniparental disomy (UPD; n = 14) were drawn from the AS Rare Diseases Clinical Research Network (RDCRN) database and collected from five research sites across the Unites States. The AS study at the RDCRN gathered health information to understand how the syndrome develops and how to treat it. Parents completed questionnaires on their perceived psychological stress, the severity of children's aberrant behaviour and children's sleep patterns. Children's adaptive functioning and developmental levels were clinically evaluated. RESULTS: Child-related stress reached clinical levels for 40% of parents of children with deletions, 100% for IC defects and 64.3% for UPD. Sleep difficulties were similar and elevated across subtypes. There were no differences between molecular subtypes for overall child and parent-related stress. However, results showed greater isolation and lack of perceived parenting skills for parents of children with UPD compared with deletions. Better overall cognition for children with deletions was significantly related to more child-related stress while their poorer adaptive functioning was associated with more child-related stress. For all three groups, the severity of children's inappropriate behaviour was positively related to different aspects of stress. CONCLUSIONS: How parents react to stress depends, in part, on children's AS molecular subtype. Despite falling under the larger umbrella term of AS, it is important to acknowledge the unique aspects associated with children's molecular subtype. Identifying these factors can lead to tailored interventions that fit the particular needs of families of children with different AS subtypes.
Subject(s)
Angelman Syndrome/classification , Angelman Syndrome/nursing , Parents/psychology , Problem Behavior/psychology , Stress, Psychological/psychology , Adolescent , Adult , Angelman Syndrome/genetics , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Young AdultABSTRACT
BACKGROUND: The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. METHOD: Parents of children with Angelman syndrome (n =15), Cornelia de Lange syndrome (n = 16) and Cri du Chat syndrome (n = 18), and a matched comparison group of parents of children with autism and intellectual disabilities (n = 20) completed questionnaires on both psychological distress (stress, anxiety, depression) and positive psychological functioning. RESULTS: Parents of children with Angelman syndrome consistently reported the highest levels of psychological distress, and parents of children with Cornelia de Lange syndrome the lowest, with parents of children with Cri du Chat syndrome and autism scoring between these two. Positive psychological functioning was similar across the four aetiology groups. CONCLUSIONS: Parents of children with rare genetic syndromes are at risk for high levels of stress and mental health problems. Methodological issues and the practical applications of these results are discussed.
Subject(s)
Caregivers/psychology , Chromosome Disorders/nursing , Parents/psychology , Stress, Psychological/psychology , Adaptation, Psychological , Adolescent , Analysis of Variance , Angelman Syndrome/complications , Angelman Syndrome/nursing , Angelman Syndrome/psychology , Anxiety/etiology , Anxiety/psychology , Autistic Disorder/nursing , Autistic Disorder/psychology , Case-Control Studies , Child , Child Behavior Disorders/complications , Child Behavior Disorders/nursing , Child Behavior Disorders/psychology , Child Rearing/psychology , Child, Preschool , Chromosome Disorders/complications , Chromosome Disorders/psychology , Cri-du-Chat Syndrome/complications , Cri-du-Chat Syndrome/nursing , Cri-du-Chat Syndrome/psychology , De Lange Syndrome/complications , De Lange Syndrome/nursing , De Lange Syndrome/psychology , Depression/etiology , Depression/psychology , Developmental Disabilities/complications , Developmental Disabilities/nursing , Developmental Disabilities/psychology , Female , Humans , Male , Parent-Child Relations , Self-Injurious Behavior , Sex Factors , Social Support , Stress, Psychological/complications , Young AdultABSTRACT
The molecular phenomenon genomic imprinting provides an explanation for why two clinically distinct syndromes share genetic etiologies. Increased understanding of genomic imprinting is affecting diagnostics. Use of improved diagnostic tests can enable early, syndrome-specific, and anticipatory interventions and consequently, improved quality of life; however, these tests are of little use unless clinicians are able to identify at-risk patients. Nurses knowledgeable about Prader Willi and Angelman syndromes and their associated genetic mechanisms can play a significant role in early identification, referral, and intervention of patients with these conditions.
