Psychosocial problems, coping strategies, and the need for information of parents of children with Prader–Willi syndrome and Angelman syndrome
Introduction
Parents of a child with a mental handicap are frequently confronted with various kinds of psychosocial and practical problems that sometimes cause high levels of parental distress. These include emotional problems such as fear, depression and worry, reduced satisfaction in their marriage, practical and financial problems, problems related to educational tasks, as well as reduced levels of self-esteem and self-confidence [1], [2], [3]. Understanding the specific nature and determinants of these problems as well as the ways parents cope with problems is highly relevant for the development of family interventions and strategies for prevention, education and support. An approach to understanding how parents cope with the education and care of a handicapped child can be based on the transactional theory on coping of Lazarus and Folkman [4], [5]. According to the stress-coping theory of Lazarus and Folkman [4], the extent to which having a child with a mental handicap is experienced as stressful will depend firstly on the parents’ appraisal of the situation of their child and the expected consequences for the family and the family members well-being (primary appraisal). Subsequently, parents will appraise the resources (external and intrapersonal) they have available to cope with the situation, the effectiveness of the different resources and the expected outcomes after implementation of these resources (secondary appraisal). Parents will appraise the efficacy of external resources such as available services, the special education facilities for their child, or opportunities for work. They will also appraise their personal resources and skills in handling the stress for themselves and their family. Based on this appraisal process, parents will apply specific problem-focused and emotion-focused strategies in coping with the situation and with their emotions. According to Lazarus and Folkman [4] coping is seen as a dynamic interaction process between a person and the situation, in which that person constantly tries to keep a balance between his or her own resources and the requirements of the situation.
The appraisal of the situation depends on characteristics of the handicapped child and on characteristics of the parents and family. Characteristics of the child that appear to be clearly related to a higher level of stress in their parents are poor physical health, difficult temperament, low social responsiveness, behavioral problems, limited social skills of the child, and more unusual care taking demands [6], [3].
With regard to parental characteristics, research by Schilling and associates [7] indicates that mothers and fathers differ in their perception of their handicapped child’s needs and in their own sense of responsibility for addressing those needs. Thus, they may differ in the way they deal with the daily stresses of caring for their child. Other characteristics that have been mentioned as possibly having an influence on experiencing the situation as stressful are age of the parent, social class, income and personality [3]. Also, characteristics of the family that have been mentioned as possibly having an impact on the amount of stress that parents may experience are the life-cycle stage of the family, number of children, age of handicapped child in relation to the others, family integration prior to the birth of the handicapped child, and relations of the handicapped child with the other children [8], [3].
The present study focuses on the psychosocial problems of parents with a child with Prader–Willi syndrome or a child with Angelman syndrome, on the strategies these parents apply to cope with these problems, and on their need for information.
Prader–Willi syndrome and Angelman syndrome are rare genetic disorders caused by the loss of function of imprinted genes on the proximal long arm of chromosome 15 (15q11–13) [9]. The estimated prevalence is around 1 in 20,000 for each syndrome. Other studies mention prevalence rates between 1 in 10,000 and 1 in 40,000 live births [10], [11]. Both syndromes occur across all ethnic groups.
Prader–Willi syndrome was first described by Prader, Labhart and Willi in 1956 [12]. The syndrome is characterized by severe neonatal hypotonia, feeding difficulties, delayed developmental milestones and a typical physical phenotype including a typical dysmorphic facial appearance with triangular mouth and almond-shaped eyes, short stature, small hands and feet, genital underdevelopment and delayed secondary sexual characteristics [13], [14]. There is an increased prevalence of scoliosis and strabismus. In the first months of life severe muscle hypotonia and a failure to thrive are the most prominent features. After a few years the most noticeable characteristic is a developing hyperphagia leading to life-threatening obesity if not controlled. Many of the manifestations are related to functional hypothalamic deficiency [15].
Prader–Willi syndrome is said to have a characteristic psychological and behavioural phenotype. Some of the symptoms of Prader–Willi such as insatiable appetite, outbursts of rage, stubbornness, and difficulty in dealing effectively with changes in their daily routines become increasingly apparent and severe with age [13], [16], [17]. Skin picking and abnormal sleep patterns have been reported in most of the affected individuals as well as difficulties in social relationships with peers and reduced physical activity.
Angelman syndrome is, like the Prader–Willi syndrome, a complex multiple-anomaly syndrome, which is clinically distinct from Prader–Willi syndrome. Angelman syndrome, which was first described by Angelman in 1965 [18], is characterized by severe or profound learning difficulties and lack of speech, delayed motor development, inappropriate bouts of laughter, an ataxic gait, and jerky voluntary movements. Furthermore, there is the typical facial appearance with a long face and prominent jaw, a wide mouth with widely spaced teeth, thin upper lip, an underdeveloped mid-face and deep-set eyes, and a flat occiput. Among the frequent clinical characteristics are microcephaly, epileptic seizures and an abnormal characteristic EEG pattern with large-amplitude slow-spike waves [19], [20], [21].
Because of the typical psychological and behavioral characteristics of a child with Prader–Willi syndrome or a child with Angelman syndrome it is expected that these characteristics will have a specific impact on the parents’ interpretation of their situation, resulting in a particular pattern of psychosocial problems and in particular strategies for coping with these problems. In addition to an analysis of the psychosocial problems of parents, this study also focuses on analyzing the parents’ need for information. Information available to parents or information received from professionals or from other sources may highly influence the extent to which parents perceive their situation as stressful. Use of information also plays an important role in certain coping strategies, and providing information may enhance the use of specific coping strategies preferred by parents in coping with their problems.
Section snippets
Participants and procedure
To assess the impact of having a child with Prader–Willi syndrome or a child with Angelman syndrome on the psychological functioning of parents, a self-report questionnaire was sent to all families who were members of the Dutch Prader–Willi/Angelman Parent Association and who either had a child with Prader–Willi syndrome (46 families) or a child with Angelman syndrome (31 families) between 0 and 12 years of age. Families living abroad were excluded from the study. One family was excluded later
Results
In Table 2, Table 3, Table 4, Table 5, Table 6, Table 7, Table 8 the scores on the individual items of each scale measuring psychosocial problems of parents of both children with Prader–Willi syndrome and children with Angelman syndrome are presented. In Table 9 psychosocial problems of parents with a child with Prader–Willi syndrome and parents of a child with Angelman syndrome are compared. For each of the syndromes, psychosocial problems of fathers and mothers are compared in Table 10.
Discussion
The results indicate a great need for information for parents with respect to many different aspects that may impact on the development and future prospects of their child.
Parents particularly have a great need for information about the possible consequences of the syndrome for their child, about how their child may develop in the future, and how education might contribute to this development. As compared to the parents with Prader–Willi syndrome the need for information of parents with a child
Acknowledgements
We thank the John William Joseph Ackermans and Wife Lenore Kirschweg Ackermans Memorial to the City of Maastricht, the Netherlands, for the support for this project. We thank the parents for providing us with information about their needs for information, coping strategies and psychosocial problems.
References (26)
- et al.
Coping with a handicapped child: differences between mothers and fathers
Soc Sci Med
(1985) Coping with stress in cancer patients
Patient Educ Couns
(1983)- et al.
The coping with stress model: a counselling approach for families with a handicapped child
J Couns Dev
(1987) Families of young children with handicaps: parental stress and family functioning
Am J Ment Ret
(1991)Stress bij ouders van een verstandelijk gehandicapt kind: evaluatie van thuiszorg (Stress in parents with a child with a mental handicap: an evaluation of home care)
(1992)- et al.
Stress, appraisal and coping
(1984) Resources and strategies: how parents cope with the care of a disabled child
J Child Psychol Psychiatry Allied Discip
(1994)Influence of selected child characteristics on stress in families of handicapped infants
Am J Ment Def
(1983)- et al.
The effects of mentally handicapped children on families: a conceptual view
J Child Psychol Psychiatry Allied Discip
(1985) - et al.
Genomic imprinting: potential function and mechanisms revealed by the Prader–Willi and Angelman syndromes
Mol Hum Reprod
(1997)
Prevalence study of Prader–Willi syndrome in North Dakota
Am J Med Genet
Prader–Willi syndrome in a Swedish rural county: epidemiological aspects
Dev Med Child Neurol
Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter
Schweiz Med Wochenschr
Cited by (33)
Estimating the impact of Angelman syndrome on parental productivity in Australia using productivity-adjusted life years
2023, Disability and Health JournalCitation Excerpt :This risk is greater than that experienced by the parents of persons with autism, Cornelia de Lange syndrome and Cri du Chat syndrome.14 This impact is particularly notable for mothers of children with AS.14–16 However, the potential positive impacts arising from caring for a child with AS are less well understood.1
Parent Recommendations for Family Functioning With Prader-Willi Syndrome: A Rare Genetic Cause of Childhood Obesity
2016, Journal of Pediatric NursingCitation Excerpt :The authors concluded that PWS affects the entire family and that psychosocial support is indicated. This study confirms the need for education, interventions and parental support as has been suggested in the literature (Nolan, 2003; Van den Borne et al., 1999). This study is limited in that parents who may have considered themselves successful in coping may have been more likely to share their success stories and recommendations.
Social support and mastery influence the association between stress and poor physical health in parents caring for children with developmental disabilities
2014, Research in Developmental DisabilitiesCitation Excerpt :The results of this study also suggest that mastery may be a key factor in buffering physical health through its association with stress appraisal. Dealing with challenging behaviours from their children or struggling to access essential services may leave parents feeling they have little control over situations, which can often lead to feelings of loss of control, hopelessness or despondency (van den Borne et al., 1999). A high sense of mastery therefore is a beneficial resource in dealing with stressful situations and through the interaction with stress appraisal has been shown to be beneficial for physical health.
Behavioral phenotype in adults with Prader-Willi syndrome
2011, Research in Developmental DisabilitiesCitation Excerpt :These unique characteristics of our study population probably contribute to different findings on behavioral problems. Behavioral issues often impact on individuals with PWS and their families and caregivers more than any other aspect of the disorder (van den Borne et al., 1999). Compared to reported stress levels in families of children with mixed etiologies of ID, parents of children with PWS showed higher levels of parent and family problems, and comparable levels of pessimism.
Child characteristics associated with child quality of life and parenting stress in Angelman syndrome
2024, Journal of Intellectual Disability Research