Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences.

Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South African communities.

Parental Perspectives Regarding the Return of Genomic Research Results in Neurodevelopmental Disorders in South Africa: Anticipated Impact and Preferences.

Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South-African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent (secondary findings) or negative results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South-African communities.

" in the middle of nowhere " Access to, and quality of, services for autistic adults from parents' perspectives: a qualitative study.

Introduction: Adequate education, employment, and services for autistic individuals contribute significantly to their and their parents' quality of life. Services and support for adults are dramatically more limited than those for children. The main purpose of this study was to explore how parents perceive factors supporting/hindering access to services, and how they assess the quality of services. Methods: Qualitative data provided by 12 parents via a semi-structured interview with a broader focus on parental quality of life and its factors were analyzed. Their autistic children were between 20 and 34 years of age. A thematic analysis was performed on parts of the narratives on their adult periods of life. Results: A complex pattern of parental perception of supportive and hampering factors influencing access to services unfolded. The sparsity of services/activities and reliable information on them made the space for autonomous decisions on service take highly limited. Parents have modest expectations on quality of services, evaluating them along two key aspects: a safe, positive atmosphere, and communication between parents and professionals. Other aspects of individualized autism-specific support were not or just rarely mentioned. Discussion: Parents perceive themselves as investing a lot of effort and resources in getting some form of regular service and/or activity for their adult child. However, these parental efforts often fail, their child becoming inactive, and dependent on their presence. This suggests system-level problems with services for autistic adults in Hungary, with literature showing it is not specific to this country.

Inter-embodied parental vigilance; the case of child food allergy.

There is developing interest in issues of embodiment in studies of children, health and illness. We take our point of departure in the parent-child-health/illness triad to explore the embodied aspects of parental vigilance in parenting children who have a food allergy, utilizing the concept of inter-embodiment. Drawing on a focus group study with parents in Sweden the analysis reveals that this vigilance can be seen as the embodied manifestation of concern for children's bodies in perpetual liminality, when constantly exposed to allergens and the risk of becoming ill. We argue that the lens of inter-embodiment, with a focus on bodies in relation, captures how parents lived experience of managing food allergy intertwines with that of their children in the parent-child-health/illness triad. The analysis uncovers a form of embodied knowledge that is often not verbalized, offering potential for new understandings of parent-child relations that center on chronic child health conditions.

The need of having a plan in excessive infant crying - A qualitative study of parents' experiences of healthcare support.

AIM: Excessive infant crying increases parents' concerns regarding their infant's health and the burden of parenting. We aimed to gain insight into the healthcare support needs of parents with excessively crying infants. METHODS: An exploratory qualitative study was conducted in the Netherlands. We performed semi-structured interviews with parents of 12 infants between June and December 2020, followed by inductive and deductive thematic analysis. RESULTS: Parents described what their needs were with regard to the assessment of infant crying and support by professionals. Long-lasting crying made parents feel that there must be a somatic cause. If they could soothe their infant, they gained more confidence that their infant was healthy. We identified four interrelated themes: (i) confidence in the professional; (ii) seeking a somatic cause for the crying; (iii) seeking acknowledgment; and (iv) exhaustion of parents and feelings of failure. CONCLUSION: Parental support needs were best fulfilled by professionals who took them seriously, demonstrated medical expertise, and offered a practical plan. Perinatal parental education on normal infant behaviour and infant soothing techniques might improve parental self-efficacy at an early stage and prevent medicalization of excessive crying.

Parental perspectives of outcomes following very preterm birth: Seeing the good, not just the bad.

AIM: To describe parental perspective on health and developmental outcomes of their preterm child in relation to level of neurodevelopmental impairment (NDI). METHODS: A parental survey about their children aged 15-36 months corrected age born ˂29 weeks' gestation investigated parental concerns and positive attributes. Parental responses in relation to their child's level of NDI were examined using Kruskal-Wallis and chi-square for trend tests. RESULTS: One hundred ninety-nine parental responses were obtained for 163 children, including 44% with NDI. Vast majority of parents reported their children were developing well with good physical health. All parents, irrespective of NDI, reported their children were happy and had a positive personality. Appreciation of social interactions was higher for parents of children without versus with NDI (96% vs. 87%, p = 0.039). Parents of children with NDI were more likely to express concerns than those without NDI. Overall, development was the most common area of concern (45%), followed by the child's future (40%) and physical health (35%). CONCLUSION: Parents of preterm children report many positive points and concerns, some of which are not examined in neonatal follow-up data. These parental perspectives could be used to inform parents of preterm infants, both antenatally and in the neonatal unit.

Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective.

In the Netherlands, abnormal New-Born Screening (NBS) results are communicated to parents by the general practitioner (GP). Good communication and consequential trust in professionals is of the utmost importance in the treatment of phenylketonuria (PKU). The aim of this study was to assess parental satisfaction regarding the communication of an abnormal NBS result for PKU in the Netherlands. An email containing the link to a web-based questionnaire was sent by the Dutch PKU Association to their members. Responses to open questions were categorized, data of both open and closed questions were analysed with descriptive statistics and the Chi-Square test using SPSS. Out of 113 parents of a child with PKU (born between 1979 and 2020), 68 stated they were overall unsatisfied with the first communication of the NBS result. Seventy-five parents indicated that wrong or no information about PKU was given. A significant decrease was found in the number of parents being contact by their own GP over the course of 40 years (p < 0.05). More than half of all parents were overall unsatisfied with the first communication of the abnormal NBS result for PKU. Further research on how to optimize communication of an abnormal NBS results is necessary.

The impact of early intervention on a child with vision loss in infancy - A parental perspective.

Purpose: : To assess the impact of early intervention services provided to children with visual loss and to report how parents perceive them in terms of a child's development and the family dynamics. Methods: : A qualitative descriptive study was conducted on a purposively selected sample of 15 children with severe visual impairment, availing early intervention services at a tertiary care facility in Pune, Maharashtra. Data were collected by conducting in-depth interviews of the parents with the help of a semi-structured interview topic guide. Participants were asked in detail about how and whether various components of the early intervention program (EIP) had an impact on their child. The interviews were audio-recorded, transcribed, and translated into English, and the resultant textual data were analyzed using the qualitative research software NVIVO 12 to identify themes and sub-themes under each domain. Results: : A total of 15 children were included in the study, with ages ranging from 13 months to 5 years. All the children included in the study suffered from severe visual impairment in infancy (Vision 3/60 - PL). In the course of this EIP, the majority of the children showed consistent progress in various aspects of child development. According to the parents, the most beneficial components of EIP were visual stimulation exercises, an improvised teaching methodology, and counseling services. Conclusion: : Almost all the parents included in the study reported a positive change in the behavior and development of the child as well as improved family dynamics after implementation of EIP.

Medical Communication during the Transition to Palliative Care in Pediatric Oncology in Hungary-The Parents' Perspective.

The transition to palliative care (PC) is a critical aspect of pediatric oncology, and it requires a high level of communication skills from doctors, which could be best judged by the parents of children who have died from cancer. Our aim was to explore the parents' perspectives regarding the timing of the consultation on the implementation of PC, as well as facets of verbal and nonverbal communication in Hungary. Semistructured interviews were conducted with parents who had lost a child to cancer within the past 1-5 years. Interview transcripts (n = 23) were scrutinized with interpretative phenomenological analysis. The parents frequently associated palliation with end-of-life care and they clearly delimited the transition to PC after curative treatments had been exhausted. The parents were ambivalent with regard to the use of the word "death" during this consultation, and they often did not receive information on what to expect (e.g., regarding symptoms) or on who to turn to for further information or support (e.g., concerning bereavement). Although significant progress could be observed in the organization of pediatric palliative care in Hungary, there is still no widely accepted communication method for the transition to sole PC. There is a need for a culturally sensitive approach to refining the recommendations on the word use and communication protocol in pediatric PC in Hungary.

Parental voice - what outcomes of preterm birth matter most to families?

Neonatal follow-up studies traditionally report on long-term neurodevelopmental outcomes as a metric of success of neonatal intensive care. Research endpoints are also typically deficit-based, assessing whether disabilities, such as cerebral palsy, cognitive impairment, deafness or blindness, are present or not. These historical approaches have resulted in neonatal follow-up programs that narrowly focus on the early identification of neurodevelopmental problems, possibly to the detriment of other outcomes that matter to parents. This focus on neurodevelopmental disability may also contribute to the negative stereotypes associated with extreme preterm birth. In this article, we discuss parental perspectives regarding important long-term outcomes. We examine limitations with current definitions of outcomes and propose a strength-based approach to generate meaningful findings both for clinicians and families.

Understanding parents' views toward the newly enacted HPV vaccine school entry policy in Puerto Rico: a qualitative study.

BACKGROUND: The Human papillomavirus vaccine (HPV) is an essential tool for the prevention of HPV-related cancers. In Puerto Rico, the Secretary of Health established a school entry requirement of at least one dose of HPV vaccination in girls and boys aged 11 and 12 years, taking effect in August 2018. Our study aimed to examine parents' and guardians' views of unvaccinated children about the process of implementation of the new HPV vaccination school entry policy in Puerto Rico and identify potential barriers and facilitators related to the implementation of this requirement. METHODS: During April through November 2019, we conducted three focus groups (n = 12) and eight in-depth semi-structured interviews with parents of children aged 11 and 12 who had not yet initiated the HPV vaccine series. The interview topics addressed were: perception of vaccination, HPV vaccine and it is inclusion as new school entry requirement practice, procedure of the sources of information, influencers, and willingness to change. The interviews were recorded and transcribed by our staff members. We identified emergent themes through thematic analysis. RESULTS: The participants' perspective on the HPV vaccine school requirement was mixed. Lack of information of the HPV vaccines and lack of communication about the school-entry requirement were the themes most mentioned in the interviews. Moreover, previous negative experiences from friends or family members and adverse effects deterred some participants from vaccinating their kids. We discussed barriers in the process of soliciting an exemption. CONCLUSION: Most barriers mentioned by study participants are modifiable. Information about the HPV vaccine mandate's implementation and educational materials regarding HPV vaccine safety need to be provided to address parents' concerns related to the vaccine's side effects. Schools (teachers, principal directors, and administrative staff), the government, and parent organizations need to be part of these efforts. This multilevel approach will help to improve disseminating information about HPV vaccination to clarify doubts and misinformation among parents.

The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers.

BACKGROUND: Thalassaemia, a hereditary haemoglobin disorder, is a major public health concern in some parts of the world. Although Bangladesh is in the world's thalassaemia belt, the information on this disease is scarce. Additionally, the awareness of this life threatening, but potentially preventable disease is surprisingly poor. However, mass awareness is pivotal for the development of an effective preventive strategy. In this context, the understanding of parental perspectives is essential to grasp the magnitude of the problem. Therefore, this study aimed to investigate the parental knowledge gaps and perceptions regarding thalassemia, the barriers confronted by the parents for caring for their thalassaemic children and their attitude to prenatal screening and prenatal diagnosis. METHODS: This cross-sectional study was conducted between January 2018 and December 2018 at a dedicated thalassemia hospital located in Dhaka. A structured questionnaire was used for face-to-face interviews with parents of thalassaemic children. Descriptive statistics were used to analyse data. RESULTS: Of 365 respondents, nearly all respondents (97%) had not heard about the term, 'thalassemia' before the disease was diagnosed in their children; all (100%) were unscreened for carrier status prior to marriage. Mean knowledge scores were significantly higher in respondents with higher income and education. Most respondents (~ 91%) had a guilty feeling for not undergoing premarital screening. Only around 36% of them had heard about prenatal diagnosis. Approximately 25% participants would consider prenatal diagnosis in a future pregnancy, while 70% of them were unsure and only ~ 5% would decline prenatal diagnosis. Only 9.3% mothers had prenatal diagnosis in a previous pregnancy. Nearly 80% of the parents faced difficulty for obtaining blood donors regularly and a similar proportion (~ 81%) of them did not receive support from any organized blood clubs. More than 40% of the parents reported they felt socially stigmatized. CONCLUSION: This study suggests poor parental knowledge regarding thalassaemia including prenatal diagnosis and the challenges faced while caring for their children. These findings would be of paramount importance in planning and devising effective prevention and intervention strategies in Bangladesh as well as other countries with similar sociocultural setting.

Music Is Life-Follow-Up Qualitative Study on Parental Experiences of Creative Music Therapy in the Neonatal Period.

Developmental problems in extremely preterm (EP) infants and the associated longitudinal burden for their families are major health issues worldwide. Approaches to social-emotional support such as family-integrating Creative Music Therapy (CMT) are warranted. We aimed: (1) to explore parental perspectives on the use of CMT with EP infants in the neonatal hospitalization period and (2) to examine the possible longitudinal influence of CMT. A qualitative design was used to examine the perspective of six families from various backgrounds. Semi-structured interviews were carried out when the infants reached school age. We used an inductive-deductive thematic analysis to identify three main themes, each with three sub-themes: (1) the positive impact of CMT on the infants, the parents, and bonding; (2) the attitude toward CMT, from being open-minded to recommending it as complementary therapy; and (3) the experience of overall healthy infant development despite unique developmental delay issues. The findings elucidate the positive and formative impact of CMT on both infants and parents in the stressful NICU setting and beyond. CMT may empower positive transformation in the parents through individualized early nurturing musical interactions, capacity building, and positive reinforcement. Further research may help to identify and implement potentially modifiable factors for improving health care in this vulnerable group through early family-integrating, resource-based approaches such as CMT.

Diet plays a central role in parental self-treatment of children with Hirschsprung's disease-a qualitative study.

AIM: Hirschsprung's disease is a congenital disorder requiring surgery. Most children operated on for Hirschsprung's disease experience postoperative bowel dysmotility. Although various food is known to influence bowel motility, evidence of diet's role and dietary guidelines in treatment of bowel dysfunction in Hirschsprung's disease is lacking. The aim was to explore parental experiences of dietary effects on bowel function in children with Hirschsprung's disease. METHODS: A qualitative study including three focus groups with ten parents of children with Hirschsprung's disease at a national Hirschsprung's disease centre. Data were analysed through content analysis. RESULTS: Parents emphasised diet as a strong influencer on their child's bowel function in Hirschsprung's disease. They expressed great concerns about their responsibility and strived hard to explore and adjust dietary habits to control the child's bowel function. Families' daily and social lives were influenced by the child's diet and bowel function. The parents desired dietary support and guidelines to improve their confidence in self-treatment of Hirschsprung's disease. CONCLUSION: Dietary habits play a key role in parental self-treatment of bowel function in their children with Hirschsprung's disease. Dietary guidelines for patients with Hirschsprung's disease are anticipated.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

PURPOSE: While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if high-quality test methods and follow-up care are available, public uptake and parental acceptance are not guaranteed. The aim of this study was to describe the parental perspective on NBS for SCID in the context of an implementation pilot. Psychosocial aspects have never been studied before for NBS for SCID and are important for societal acceptance, a major criterion when introducing new disorders in NBS programs. METHODS: To evaluate the perspective of parents, interviews were conducted with parents of newborns with abnormal SCID screening results (N = 17). In addition, questionnaires about NBS for SCID were sent to 2000 parents of healthy newborns who either participated or declined participation in the SONNET-study that screened 140,593 newborns for SCID. RESULTS: Support for NBS for SCID was expressed by the majority of parents in questionnaires from both a public health perspective and a personal perspective. Parents emphasized the emotional impact of an abnormal screening result in interviews. (Long-term) stress and anxiety can be experienced during and after referral indicating the importance of uniform follow-up protocols and adequate information provision. CONCLUSION: The perspective of parents has led to several recommendations for NBS programs that are considering screening for SCID or other disorders. A close partnership of NBS programs' stakeholders, immunologists, geneticists, and pediatricians-immunologists in different countries is required for moving towards universal SCID screening for all infants.

A Scoping Review: Family and Child Perspectives of Clinic-Based Obesity Treatment.

PROBLEM: Interventions for children with obesity lead to only modest improvements in BMI and long-term outcomes, and data are limited on the perspectives of families of children with obesity in clinic-based treatment. This scoping review seeks to answer the question: What is known about the perspectives of families and children who receive care in clinic-based child obesity treatment? ELIGIBILITY CRITERIA: Studies were eligible for inclusion in this review that 1) reported parent, family or child perspectives of obesity treatment; 2) addressed concepts identified in the obesity literature as barriers or facilitators to success in obesity treatment from the perspective of the parent/family/child, including reasons for failure to return to clinic and satisfaction with care. SAMPLE: Twelve studies qualified for final inclusion in this scoping review RESULTS: Families report a lack of interventions tailored to their unique needs and resources. Barriers and facilitators encompass 1) structural issues (e.g., clinic location and scheduling); 2) financial issues; 3) patient and family issues; and 4) personal behaviors, motivation, and expectations. CONCLUSION: Data are lacking on the clinic-based treatment of children with severe obesity, and few studies report on non-maternal perspectives. IMPLICATIONS: Clinical practice must be tailored to individual family needs. Future research should concentrate on identifying missing variables which impact successful treatment outcomes through more rigorous qualitative studies, standardized outcome measures, focus on children with severe obesity, and fathers' and siblings' perspectives.

Parental Perspectives on Quality of Life in Adolescents with Cerebral Palsy.

BACKGROUND: Quality of life (QoL) is an important outcome variable while evaluating intervention effectiveness during adolescence. Limited studies have addressed the issues that affect the QoL in adolescents with cerebral palsy. The present study explores the parent-reported QoL in adolescents with cerebral palsy. MATERIALS AND METHODS: Using a cross-sectional study design, parental perspectives on QoL were investigated among 35 parents of adolescents with cerebral palsy, aged between 13 and 18 years. Performance on seven domains of QoL across age and gender were explored. RESULTS: While the maximum QoL was seen in the domain of social well-being, the least QoL was noted for feelings about functioning. Across age, the early adolescence group (13-15 years) had a poorer quality of life in comparison to the late adolescence group (16-18 years). With respect to the gender, though females had a lower QoL scores, a statistically significant difference was observed only for the domain of general well-being and participation. CONCLUSIONS: From a parental perspective, the major issues of concern in adolescents with cerebral palsy were feelings about functioning, general well-being and participation, and access to services. This information will be useful when establishing management options or assessment protocols to improve their overall QoL.

Uncertainty and self-efficacy in parents of a child with congenital cataract-New implications for clinical practice.

AIM: The aim was an in-depth exploration of uncertainty and self-efficacy among parents of a child with congenital cataract by means of two theoretical frameworks to re-design family care. DESIGN: A directed content analysis in accordance with Hsieh & Shannon, using Mishel's theory of uncertainty and Bandura's self-efficacy theory. METHODS: Open-ended, in-depth interviews were conducted with 23 parents of a child with congenital cataract; six mothers, five fathers and six couples. RESULTS: In this novel study, self-efficacy was interpreted as the ability to balance between uncertainty and acceptance. The performance accomplishment of the child and parents bridges the gap between uncertainty and acceptance by reducing uncertainty, thus constituting the level of self-efficacy. Setbacks and complications increase uncertainty and reduce self-efficacy, thus performance accomplishment is a mediator of self-efficacy, while ability to master uncertainty determines the level of self-efficacy.

Acceptability and Barriers to HIV Pre-Exposure Prophylaxis in Atlanta's Adolescents and Their Parents.

Adolescents aged 13-24 years account for 23% of new HIV infections in Atlanta, indicating need for better HIV prevention strategies in this population. Pre-exposure prophylaxis (PrEP) is now approved for adolescent use. This study aims to understand the acceptability of and barriers to PrEP in adolescents and parents. We administered PrEP acceptability and barrier measures to HIV(-) 13-17 year olds and their parents from January to April 2016 in an adolescent clinic and emergency department in Atlanta, GA, stratifying by adolescent sexual activity. Acceptability scores (AS) and barrier scores (BS) were calculated by averaging survey answers 1-3. For AS, 1 was very unlikely to accept PrEP; concomitantly, BS near 3 indicated fewer barriers. Two-sample hypothesis testing, Pearson correlations, and linear regression were used. Of the 102 adolescent/parent dyads, 67% of adolescents were female, 94% black, with a mean age of 15.7 ± 1.5 years, and 31% were sexually active. Parents were 94% female, 96% black, with a mean age of 42.4 ± 8.9 years. AS averaged between somewhat to very likely to accept PrEP (2.4 ± 0.5 and 2.2 ± 0.6) in adolescents and parents, respectively. BS averaged between unlikely and somewhat likely to perceive barriers to PrEP (2.0 ± 0.4 and 1.9 ± 0.5) in adolescents and parents, respectively. The adolescent/parent dyad is likely to accept PrEP, regardless of sexual activity. Limitations include that nearly 70% of adolescents were not sexually active, and the study was conducted before PrEP approval by the Food and Drug Administration for those who are younger than 18 years. These results support future parent and adolescent education on PrEP.

Parental perspectives on provider adherence to AAN epilepsy quality measures in rural and urban tertiary care centers.

Several American Academy of Neurology (AAN) epilepsy practice guidelines recommend conversations that neurologists should have with patients and their parents. We sought to determine whether parents of pediatric patients with epilepsy had knowledge of epilepsy quality measures (EQMs) and whether they recalled having discussions with their child's neurologist about each of the EQM. Surveys were distributed to parents at five clinic sites associated with epilepsy centers in Washington, DC and Charlottesville, Virginia. Key questions on the parent survey included whether neurologists had discussed, or parents had knowledge of, EQM topics which included medication side effects, safety, reproductive health, transition to adult care, learning and attention problems, bone health, sudden unexpected death in epilepsy (SUDEP), and risk of epilepsy-related death. No data were collected from the neurologist or the medical record about EQM discussions. Among 233 completed surveys, parental knowledge and neurologist discussion of EQM were highly correlated (p < .00001). Epilepsy quality measures most discussed with high parental knowledge were medication side effects, safety, learning and attention problems, and bone health. Sudden unexpected death in epilepsy was least discussed and known. We found consistent care practices in adherence to EQM across settings from urban to rural communities, with patients of all ages and epilepsy severities and staffed by neurologists with various levels of epilepsy expertise. Despite reported high rates of adherence on several measures, we identified opportunities for improvement. Querying and counseling about EQM should be an ongoing conversation which evolves with the child's age and epilepsy-associated risks.