Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A qualitative study

Palacios‐Ceña, Domingo; Güeita‐Rodríguez, Javier; Gil‐Nagel, Antonio; Jiménez‐Antona, Carmen; García‐Bravo, Cristina; Velarde‐García, Juan Francisco; Cuenca-Zaldívar, Juan Nicolás; Aledo‐Serrano, Ángel

doi:10.1111/dmcn.15712

Cited by 10 publications

(8 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The present research is part of a larger qualitative study that described the experiences and unmet health care needs of parents of children with DEEs [27]. In this part of the study, our results show the impact that DEEs have on the parents and the couple's relationship as well as on the remaining family members.…”

Section: Discussionmentioning

confidence: 74%

The impact of developmental and epileptic encephalopathies on families: A qualitative study

García,

Güeita-Rodríguez,

Jiménez-Antona

et al. 2024

Preprint

View full text Add to dashboard Cite

Developmental and epileptic encephalopathies (DEEs) cause disability and dependence affecting both children and the family. The questions guiding this study were: What changes do parents of children with DEEs experience in their life as a couple? What changes occur within the family and for the other family members?. We carried out a qualitative study based on the interpretivist paradigm. Twenty-one participants were selected by means of purposive sampling. Parents of children with DEEs of SCN1A, KCNQ2, CDKL5, PCDH19 and GNAO1 variants were included. In-depth interviews and researcher notes were used for data collection. A thematic analysis was performed on the data. Three themes were identified in the results: a) Assuming conflicts and changes within the couple, which caused them to distance themselves, reduced their time and intimacy and made them reconsider having more children; b) Impact of the disorder on siblings and grandparents, where it conditioned siblings who perceived DEEs as a burden in their lives, felt neglected, and needed to grow and mature alone; whereas grandparents suffered for their grandchildren and parents, in addition to perceiving that their health worsened, and c) Reconciling the care of the child with family life and work; this led the parents to share tasks, abandon or reduce working hours and ask for help Conclusions: Caring for a child with DEEs can result in neglect of social, psychological, emotional, recreational, educational, or occupational needs and obligations that ultimately impact all family members.

show abstract

Section: Discussionmentioning

confidence: 74%

The impact of developmental and epileptic encephalopathies on families: A qualitative study

García,

Güeita-Rodríguez,

Jiménez-Antona

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Similarly, in TSC, Zöllner et al (72) showed that there were discrepancies in the prioritization of the management of psychiatric and neurological symptoms between physicians and carers. Previous studies (12,54,74) in DEEs have shown the importance of the relationship with the healthcare professional for parents. For parents of children with SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1, the relationship was negative when professionals prioritized bureaucracy, ignored information provided by the family, communicated without empathy, judged the quality of home care, did not relate to their children, and did not understand the illness (12).…”

Section: Bdi-iimentioning

confidence: 98%

“…The interview question guide was developed based on previous studies concerning DEE (11,12,(53)(54)(55)(56) where a pilot test was conducted (52,57). All interviews were conducted by two researchers (MSPJ and DPC), with experience in developing qualitative studies using in-depth interviews and not involved in the care of the participants' children.…”

Section: Data Collectionmentioning

confidence: 99%

“…Previous studies on DEEs (12,53) have shown how parents' lives "stop" to focus on their children, and day-to-day life is a constant adaptation requiring parents to be alert. Carers of children with TSC have lower health-related quality of life (HRQL) than the general population (64-67), spending an average of 104 h per week caring.…”

Section: Quality Of Lifementioning

confidence: 99%

“…Children affected by DEEs and their families experience difficulties with diagnosis and genetic identification, carer burden, and financial and social difficulties related to the disability (6,7). These difficulties in caring for children with DEEs cause significant physical (exhaustion), mental (stress, anxiety, insomnia) and social (lack of resources) strain on parents, which can lead to health problems and reduced quality of life (6,(8)(9)(10)(11)(12). The European Commission, through the European Joint Programme on Rare Diseases (13), and the Orphanet network initiative (14) for rare diseases, has highlighted the need for further research into the diagnosis, treatment, and impact of rare diseases on patients, their families, and their social environment.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study

Salcedo-Perez-Juana,

Palacios-Ceña,

San-Martín-Gómez

et al. 2023

Front. Pediatr.

View full text Add to dashboard Cite

BackgroundDevelopmental and Epileptic Encephalopathies (DEEs) occur in childhood and are associated with severe epileptic seizures and neurological impairment. The aim of this study was to combine quantitative and qualitative methodologies to comprehensively describe factors related to quality of life, impact on the family and psychosocial factors in parents of children with TSC, STXBP1 and SYNGAP1 variants.MethodsA convergent parallel mixed design including parents of children with DEE. In the cross-sectional study, 20 parents (10STXBP1, five SYNGAP1, five TSC) were given questionnaires on quality of life, impact on the family and psychological factors. In the descriptive qualitative study, in-depth interviews were conducted with 18 parents (nine STXBP1, five TSC, four SYNGAP1) using a semi-structured questionnaire. A thematic analysis was carried out. The results of the two studies were combined by showing similarities and differences through tables, figures, accounts, and joint displays.ResultsIn terms of quality of life, the integrated results were consistent in highlighting the importance of family interaction, although in the qualitative section the influence of the relationship between the children's siblings, the relationship with health professionals and the difficulties in obtaining public aid were highlighted. In terms of impact, the integrated results show that the illness has a significant impact on the family; the financial burden is highlighted, and the experience of the illness is discussed in depth. Finally, the psychological aspects, symptoms such as anxiety, stress and strain, were consistent. Most of the participants reported sleep disturbance, as identified in the questionnaire, although not mentioned in the interviews.ConclusionsThe combined results of the mixed method provide an in-depth analysis of the impact of DEEs on parents of children with STXBP1, SYNGAP1 and TSC.

show abstract

Key steps and barriers in the journey of patients with epilepsy through the National Healthcare System in Spain: The EPIPASS qualitative study

Poza,

Gobbo,

Palanca Cámara

et al. 2024

Epilepsia Open

View full text Add to dashboard Cite

ObjectiveEpilepsy requires continuous medical attention from multiple healthcare specialists, specialized facilities, and community‐based care. In Spain, there is no standardized approach to epilepsy care. The aim of this study was to identify the factors impacting on the delivery of high‐quality care by exploring key steps and barriers along the patient journey through the Spanish National Healthcare System (NHS).MethodsA qualitative study was conducted using opinions and experiences of neurologists, nurses, patients, and caregivers shared in discussion meetings. Using thematic content analyses, relevant aim‐focused statements were coded according to prespecified issues in a discussion map (i.e., key steps and barriers), and sub‐coded according to emerging issues. Thematic saturation and co‐occurrence of key steps/barriers were evaluated to identify the most relevant factors impacting on the delivery of high‐quality care.ResultsSixty‐five stakeholders took part in discussion meetings (36 neurologists, 10 nurses, 10 patients, and nine caregivers). Six key steps on the patient journey were identified: emergency care, diagnosis, drug therapy, follow‐up, referral, and interventional treatment. Of these, follow‐up was the most relevant step impacting on the delivery of high‐quality patient care, followed by drug therapy and diagnosis. Emergency care was considered a hot‐spot step with impact throughout the patient journey. Communication (among HCPs and between HCPs and patients) was a barrier to the delivery of high‐quality care at several stages of the patient journey, including drug therapy, follow‐up, referral, and interventional treatment. Resource availability was a barrier for diagnosis (especially for confirmation), drug therapy (drug availability), and referral (lack of professionals and specialized centers, and long waiting lists).SignificanceThis is the first study capturing perspectives of four key stakeholders involved in epilepsy care in Spain. We provide an overview of the patient journey through the Spanish NHS and highlight opportunities to improve the delivery of patient‐centered care with a chronicity perspective.Plain Language SummaryPatients with epilepsy may require prolonged medical care. In Spain, care is provided by a range of specialist and non‐specialist centers. In this study, a team of Spanish neurologists, nurses, patients and caregivers identified barriers that affect the delivery of high‐quality care for patients with epilepsy at each stage of their journey through the Spanish NHS. Specific epilepsy training for healthcare providers, appropriate resources for diagnosing and treating patients, and good communication between healthcare workers and patients were identified as important factors in providing high‐quality care for patients with epilepsy.

show abstract

Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A qualitative study

Cited by 10 publications

References 39 publications

The impact of developmental and epileptic encephalopathies on families: A qualitative study

The impact of developmental and epileptic encephalopathies on families: A qualitative study

Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study

Key steps and barriers in the journey of patients with epilepsy through the National Healthcare System in Spain: The EPIPASS qualitative study

Contact Info

Product

Resources

About