Psychosocial Considerations for Children and Adolescents Living with Rare Diseases

A special issue of Children (ISSN 2227-9067).

Deadline for manuscript submissions: closed (15 April 2022) | Viewed by 33233

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Special Issue Editors


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Guest Editor
Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA
Interests: pediatric cancer; pediatric HIV/AIDS; psychosocial oncology; psychosocial studies; therapeutic resources; support; distress screening; advance care planning; adolescents; young adults; remove support
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Guest Editor
Adolescent and Young Adult Medicine, Center for Translational Research, Children's National Hospital, Washington, DC 20010, USA
Interests: adolescents; advance care planning; patient education; HIV; health outcomes; chronic disease management; evidence based medicine; health inequality; health disparities; health equity

Special Issue Information

Dear Colleagues,

Living with a long-term medical condition, particularly if it is a rare disease, can have a profound impact on the lives of children and their caregivers.

This Special Issue will explore the psychosocial needs of children and adolescents living with a rare condition and interventions that have been developed to address their needs. We are also interested in research conducted to assess the needs of their family members. Our goal is to  update readers on evolving research in the field and familiarize them with useful clinical knowledge and interventions. We invite manuscripts addressing the diverse psychosocial, neuropsychological, and educational needs these children face as well as the impact on their family, friends and community. Help to make this collection even more successful by alerting other experts in the field who could submit their own articles. Simply copy and send the following link to your colleagues:

https://www.mdpi.com/journal/children/special_issues/psychosocial_considerations

The submission deadline for this Special Issue is 28 February 2022.

Children is an international, peer-reviewed, open access journal of pediatrics, focusing on the dissemination of clinical, epidemiological and translational science relevant to children’s health, published monthly online by MDPI.

High Visibility: indexed within ScopusSCIE (Web of Science)PubMedPMC, and many other databases.

5-Year Impact Factor: 3.091 (2020)

Dr. Lori Wiener
Dr. Maureen E. Lyon
Guest Editors

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • rare conditions
  • rare diseases
  • children
  • adolescents
  • psychosocial
  • emotional
  • psychological
  • neuropsychological

Published Papers (11 papers)

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Editorial

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6 pages, 178 KiB  
Editorial
Special Issue: Psychosocial Considerations for Children and Adolescents Living with a Rare Disease
by Maureen E. Lyon and Lori Wiener
Children 2022, 9(7), 1099; https://doi.org/10.3390/children9071099 - 21 Jul 2022
Cited by 2 | Viewed by 1931
Abstract
This Special Issue of the journal Children constitutes an opportune moment to reflect on the psychosocial needs of children living with rare diseases and of their families [...] Full article

Research

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15 pages, 968 KiB  
Article
Unmet Needs of Parents of Children with Urea Cycle Disorders
by Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W. Haun and Thomas Opladen
Children 2022, 9(5), 712; https://doi.org/10.3390/children9050712 - 12 May 2022
Cited by 3 | Viewed by 2261
Abstract
(1) Background: Phenotypic diversity and long-term health outcomes of individuals with urea cycle disorders (UCDs) have been described in detail. However, there is limited information on the burden on affected families. (2) Methods: To evaluate the family burden in parents with children suffering [...] Read more.
(1) Background: Phenotypic diversity and long-term health outcomes of individuals with urea cycle disorders (UCDs) have been described in detail. However, there is limited information on the burden on affected families. (2) Methods: To evaluate the family burden in parents with children suffering from UCDs, we used validated questionnaires. Socio-demographic characteristics were evaluated, and an adapted version of the Parental Need Scale for Rare Diseases questionnaire was used. The survey was conducted in families of UCD patients cared for at the University Children’s Hospital Heidelberg. (3) Results: From April to November 2021, 59 participants were interviewed (mothers n = 34, fathers n = 25). The affected patients most frequently suffered from ornithine transcarbamylase deficiency (OTC-D) (female n = 12, male n = 12), followed by argininosuccinate synthetase deficiency (ASS-D, n = 13) and argininosuccinate lyase deficiency (ASL-D, n = 8). About one-third of the participants were “dissatisfied” or “extremely dissatisfied” with health professionals’ disease knowledge. In addition, 30% of the participants reported a medium or high need for “additional information on the development of their children”, and 44% reported a medium or high need “for information on available services”. A majority of 68% reported a need for additional support regarding services such as support groups (42%) or psychological counseling (29%). (4) Conclusions: Our study indicates that there is an unmet need for sufficient information about the development of children with UCDs, as well as for information about available support services for families with UCD patients. Furthermore, the results highlight the importance of establishing or improving family-centered care approaches. This pilot study may serve as a template for the assessment of the family burden associated with other inherited metabolic diseases. Full article
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12 pages, 425 KiB  
Article
Documentation of Psychosocial Distress and Its Antecedents in Children with Rare or Life-Limiting Chronic Conditions
by Sarah R. McCarthy, Elizabeth H. Golembiewski, Derek L. Gravholt, Jennifer E. Clark, Jeannie Clark, Caree Fischer, Hannah Mulholland, Kristina Babcock, Victor M. Montori and Amie Jones
Children 2022, 9(5), 664; https://doi.org/10.3390/children9050664 - 5 May 2022
Cited by 2 | Viewed by 1774
Abstract
Children with rare or life-limiting chronic conditions and their families are at high risk of psychosocial distress. However, despite its impact on patient and family health and functioning, psychosocial distress and its antecedents may not routinely be captured in medical records. The purpose [...] Read more.
Children with rare or life-limiting chronic conditions and their families are at high risk of psychosocial distress. However, despite its impact on patient and family health and functioning, psychosocial distress and its antecedents may not routinely be captured in medical records. The purpose of this study was to characterize current medical record documentation practices around psychosocial distress among children with rare or life-limiting chronic conditions and their families. Medical records for patients with rare or life-limiting chronic conditions (n = 60) followed by a pediatric complex care program were reviewed. Study team members extracted both structured data elements (e.g., diagnoses, demographic information) and note narratives from the most recent visit with a clinician in the program. Psychosocial topics were analyzed using a mixed quantitative (i.e., frequency counts of topics) and qualitative approach. Topics related to psychosocial distress that were documented in notes included child and parent emotional problems, parent social support, sibling emotional or physical problems, family structure (e.g., whether parents were together), and financial concerns. However, 35% of notes lacked any mention of psychosocial concerns. Although examples of psychosocial concerns were included in some notes, none were present in over one-third of this sample. For both patients with rare or life-limiting chronic conditions and their caregivers, more active elicitation and standard documentation of psychosocial concerns may improve the ability of healthcare providers to identify and intervene on psychosocial concerns and their risk factors. Full article
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11 pages, 1323 KiB  
Article
Using Communication Tools to Explore Young Siblings’ Experiences of Having a Brother or Sister with Pediatric Palliative Care Needs
by Ulrika Kreicbergs, Stefan Nilsson, Margaretha Jenholt Nolbris and Malin Lövgren
Children 2022, 9(5), 641; https://doi.org/10.3390/children9050641 - 29 Apr 2022
Cited by 8 | Viewed by 2756
Abstract
Siblings of children with palliative care needs often suffer feelings of being neglected, and their needs for information and involvement are frequently unmet. This study aims to explore the experiences and feelings of siblings of children with palliative care needs, and to determine [...] Read more.
Siblings of children with palliative care needs often suffer feelings of being neglected, and their needs for information and involvement are frequently unmet. This study aims to explore the experiences and feelings of siblings of children with palliative care needs, and to determine what is important to them. Nine siblings, aged 6–14 years, were interviewed using four different communication tools: See-Hear-Do pictures, including the empty body as a separate element, Bear cards, and words originating from previous sibling research. Data were analyzed using conventional content analysis. Five categories emerged concerning aspects that the siblings described about their situation and things that they found important: being part of a special family; school—a place for leisure, friends, and learning; relentless feelings of guilt and self-blame; losses and separations; and awareness of death—not if, but when. Siblings of children with rare diseases expressed an awareness that their brother or sister would die, although still felt they were part of a special, happy family. Siblings of children with palliative care needs due to an accident described relentless feelings of self-blame and guilt. The needs of siblings may vary depending on the condition that resulted in the ill sibling’s palliative care needs. Full article
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13 pages, 283 KiB  
Article
Gender Differences in Caring for Children with Genetic or Rare Diseases: A Mixed-Methods Study
by Shao-Yin Chu, Chin-Chen Wen and Chun-Ying Weng
Children 2022, 9(5), 627; https://doi.org/10.3390/children9050627 - 27 Apr 2022
Cited by 7 | Viewed by 1969
Abstract
As a factor in parenting stress, gender differences in caring for children with genetic or rare diseases warrant research attention; therefore, this study explored gender differences in parenting stress, health outcomes, and illness perceptions among caregivers of pediatric genetic or rare disease populations [...] Read more.
As a factor in parenting stress, gender differences in caring for children with genetic or rare diseases warrant research attention; therefore, this study explored gender differences in parenting stress, health outcomes, and illness perceptions among caregivers of pediatric genetic or rare disease populations to improve the understanding of such gender differences. Applying a concurrent triangulation mixed-methods design, we conducted a questionnaire survey to assess study measures for 100 family caregivers (42 men and 58 women), which included a free-text response item to probe caregivers’ subjective perceptions of the children’s illness. The gender differences hypothesis was tested with statistics and the qualitative data about illness perception was analyzed by directed content analysis. Most female caregivers served as the primary caregivers and provided more caregiving, while they experienced significantly increased levels of parenting stress and depressive symptoms compared with male caregivers. Female caregivers perceived the conditions of their children’s diseases to be highly symptomatic, with negative consequences and requiring disease control. By contrast, male caregivers had stronger perceptions regarding the negative effects of the disease on the children’s quality of life. The gender discrepancy in viewpoints of illness perception sequence may contribute to female caregivers’ higher levels of stress and depressive symptoms than males. Full article
10 pages, 927 KiB  
Article
Psychosocial Difficulties in Preschool-Age Children with Beckwith–Wiedemann Syndrome: An Exploratory Study
by Niccolò Butti, Annalisa Castagna and Rosario Montirosso
Children 2022, 9(4), 551; https://doi.org/10.3390/children9040551 - 13 Apr 2022
Cited by 5 | Viewed by 2031
Abstract
Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth disease and is not usually associated with intellectual delay. Living with a chronic illness condition such as BWS, however, might affect emotional-behavioral functioning and psychosocial development. To investigate this issue, parents of 30 children with BWS [...] Read more.
Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth disease and is not usually associated with intellectual delay. Living with a chronic illness condition such as BWS, however, might affect emotional-behavioral functioning and psychosocial development. To investigate this issue, parents of 30 children with BWS between 1.5 and 6 years old compiled standardized questionnaires assessing the presence of emotional-behavioral and developmental problems. The group mean scores in each scale of behavioral problems fell within the average range. Nevertheless, 23% of the sample presented scores beyond the risk threshold for social withdrawal. As regards psychomotor development, a lower mean score was reliable in the social domain compared to other developmental scales, and in the gross-motor compared to fine-motor functions. Moreover, scores in the at-risk band were reliable in almost half of the children for social development. Notably, older age was overall associated with higher emotional-behavioral and developmental difficulties, while no other socio-demographic or clinical variables accounted for the scores obtained in the questionnaires. These findings ask for a wider consideration by health and educational professionals of the psychosocial functioning of children with BWS, so as to early detect at-risk conditions and eventually promote adequate interventions. Full article
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13 pages, 249 KiB  
Article
The Needs of Adolescents and Young Adults with Chronic Illness: Results of a Quality Improvement Survey
by Taryn Allen, Stephanie Reda, Staci Martin, Phoebe Long, Alexis Franklin, Sima Zadeh Bedoya, Lori Wiener and Pamela L. Wolters
Children 2022, 9(4), 500; https://doi.org/10.3390/children9040500 - 2 Apr 2022
Cited by 16 | Viewed by 2943
Abstract
Adolescent and young adults (AYAs) with chronic illnesses cope with complex issues that require unique psychological support and healthcare services to reduce psychosocial difficulties, improve disease management, and facilitate positive transitions to adult care. Engaging patients and caregivers can help providers understand the [...] Read more.
Adolescent and young adults (AYAs) with chronic illnesses cope with complex issues that require unique psychological support and healthcare services to reduce psychosocial difficulties, improve disease management, and facilitate positive transitions to adult care. Engaging patients and caregivers can help providers understand the specific needs of this population and identify the perceived areas of support. The purpose of this quality improvement initiative is to assess the needs of AYAs with chronic medical conditions at a large government research hospital. Eighty-nine AYA patients (age = 23.5 years; range 13–34) with neurofibromatosis type 1, cancer, primary immunodeficiencies, or sickle cell disease, and a sample of caregivers (n = 37, age = 52 years; range: 41–65), completed an anonymized survey that assessed their preferences for a wide range of informational and service-related needs. The results indicate an overwhelming desire for information about general health and wellbeing and disease-specific medical knowledge. The most endorsed item was the need for more information about an individual’s medical condition (72%), which was a primary concern across disease, racial, and gender groups. Demographic and disease-specific needs were also identified. Thus, providing information to AYA patients and caregivers is a critical and largely unmet component of care, which requires the development and implementation of targeted educational and psychosocial interventions. Full article
10 pages, 242 KiB  
Article
Family-Centered Advance Care Planning: What Matters Most for Parents of Children with Rare Diseases
by Karen Fratantoni, Jessica Livingston, Sandra E. Schellinger, Samar M. Aoun and Maureen E. Lyon
Children 2022, 9(3), 445; https://doi.org/10.3390/children9030445 - 21 Mar 2022
Cited by 3 | Viewed by 3526
Abstract
Few studies have described the goals and wishes of parents caring for their children with rare diseases, specifically when children are unable to communicate their preferences directly. The purpose of this study was to describe the parent’s understanding of their child’s illness, goals [...] Read more.
Few studies have described the goals and wishes of parents caring for their children with rare diseases, specifically when children are unable to communicate their preferences directly. The purpose of this study was to describe the parent’s understanding of their child’s illness, goals of care, and what mattered most to their child from the parent’s perspective. Six families completed a feasibility study of the FAmily CEntered (FACE)-Rare pACP intervention. Qualitative content analysis was performed on transcripts of videotaped responses to the Respecting Choices Next Steps pACP Conversation facilitated conversation guide about the goals of care. Codes were grouped into themes, with direct participant quotations representing the themes. Five themes emerged: getting out and moving freely; feeling included and engaged; managing symptoms and disease burden; coordinating care among many care team members; and managing today and planning for the future. In the context of pACP, families reported that what mattered most to their children included the freedom of movement and human connection and engagement, while parents strived to be effective caregivers and advocates for their child with a rare and severely disabling disease. Full article
14 pages, 380 KiB  
Article
The Social Networks and Social Support of Siblings of Children with Cancer
by Sarah E. Wawrzynski, Melissa A. Alderfer, Whitney Kvistad, Lauri Linder, Maija Reblin, Jia-Wen Guo and Kristin G. Cloyes
Children 2022, 9(1), 113; https://doi.org/10.3390/children9010113 - 15 Jan 2022
Cited by 8 | Viewed by 3185
Abstract
Siblings of children with cancer need support to ameliorate the challenges they encounter; however, little is known about what types and sources of support exist for siblings. This study addresses this gap in our understanding of the social networks and sources of support [...] Read more.
Siblings of children with cancer need support to ameliorate the challenges they encounter; however, little is known about what types and sources of support exist for siblings. This study addresses this gap in our understanding of the social networks and sources of support for adolescents with a brother or sister who has cancer. Additionally, we describe how the support siblings receive addresses what they feel are the hardest aspects of being a sibling of a child with cancer. During semi-structured interviews, siblings (ages 12–17) constructed ecomaps describing their support networks. Data were coded for support type (emotional, instrumental, informational, validation, companionship) and support provider (e.g., mother, teacher, friend). Network characteristics and patterns of support were explored. Support network size ranged from 3 to 10 individuals (M = 6 ± 1.9); siblings most frequently reported mothers as sources of support (n = 22, 91.7%), followed by fathers (n = 19, 79.2%), close friends (n = 19, 79.2%) and siblings (with or without cancer) (n = 17, 70.8%). Friends and brothers or sisters most often provided validation and companionship while instrumental and informational supports came from parents. This study provides foundational knowledge about siblings’ support networks, which can be utilized to design interventions that improve support for siblings of children with cancer. Full article
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Review

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25 pages, 1118 KiB  
Review
Psychosocial Considerations for the Child with Rare Disease: A Review with Recommendations and Calls to Action
by Leslee T. Belzer, S. Margaret Wright, Emily J. Goodwin, Mehar N. Singh and Brian S. Carter
Children 2022, 9(7), 933; https://doi.org/10.3390/children9070933 - 21 Jun 2022
Cited by 16 | Viewed by 4754
Abstract
Rare diseases (RD) affect children, adolescents, and their families infrequently, but with a significant impact. The diagnostic odyssey undertaken as part of having a child with RD is immense and carries with it practical, emotional, relational, and contextual issues that are not well [...] Read more.
Rare diseases (RD) affect children, adolescents, and their families infrequently, but with a significant impact. The diagnostic odyssey undertaken as part of having a child with RD is immense and carries with it practical, emotional, relational, and contextual issues that are not well understood. Children with RD often have chronic and complex medical conditions requiring a complicated milieu of care by numerous clinical caregivers. They may feel isolated and may feel stigmas in settings of education, employment, and the workplace, or a lack a social support or understanding. Some parents report facing similar loneliness amidst a veritable medicalization of their homes and family lives. We searched the literature on psychosocial considerations for children with rare diseases in PubMed and Google Scholar in English until 15 April 2022, excluding publications unavailable in full text. The results examine RD and their psychosocial ramifications for children, families, and the healthcare system. The domains of the home, school, community, and medical care are addressed, as are the implications of RD management as children transition to adulthood. Matters of relevant healthcare, public policies, and more sophisticated translational research that addresses the intersectionality of identities among RD are proposed. Recommendations for interventions and supportive care in the aforementioned domains are provided while emphasizing calls to action for families, clinicians, investigators, and advocacy agents as we work toward establishing evidence-based care for children with RD. Full article
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Other

27 pages, 944 KiB  
Systematic Review
Age-Appropriate Advance Care Planning in Children Diagnosed with a Life-Limiting Condition: A Systematic Review
by Julie Brunetta, Jurrianne Fahner, Monique Legemaat, Esther van den Bergh, Koen Krommenhoek, Kyra Prinsze, Marijke Kars and Erna Michiels
Children 2022, 9(6), 830; https://doi.org/10.3390/children9060830 - 3 Jun 2022
Cited by 11 | Viewed by 3086
Abstract
Pediatric advance care planning (pACP) is an important strategy to support patient-centered care. It is known to be difficult, yet paramount, to involve the child in pACP while adjusting treatment to age and the corresponding stage of development. This systematic review was aimed [...] Read more.
Pediatric advance care planning (pACP) is an important strategy to support patient-centered care. It is known to be difficult, yet paramount, to involve the child in pACP while adjusting treatment to age and the corresponding stage of development. This systematic review was aimed to evaluate the age appropriateness of pACP interventions by assessing their characteristics, content, and evidence. CINAHL, Embase and MEDLINE were searched from 1 January 1998 to 31 August 2020 in order to identify peer-reviewed articles containing strategies and tools to facilitate pACP in both children (0–18 years) with life-limiting conditions and their families. An assessment of quality was performed using Cochrane tools and COREQ. The full protocol is available as PROSPERO CRD42020152243. Thirty-one articles describing 18 unique pACP tools were included. Most tools were developed for adolescents and young adults. In most cases, the interventions tried to assess the child’s and family’s preferences concerning their current and future hopes, wishes, and goals of the care. This was aimed to enhance communication about these preferences between children, their families, and health-care providers and to improve engagement in pACP. The relevance of an age-appropriate approach was mentioned in most articles, but this was mainly implicit. Seven articles implemented age-appropriate elements. Six factors influencing age appropriateness were identified. Tools to support pACP integrated age-appropriate elements to a very limited extent. They mainly focused on adolescents. The involvement of children of all ages may need a more comprehensive approach. Full article
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