Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving patient-centered care and targeted therapies, patient-reported outcome measures (PROMs) are needed to measure the impact of TSC manifestations on daily functioning. The aim of this study was to develop a TSC-specific PROM for adults that captures the impact of TSC on physical functions, mental functions, activity and participation, and the social support individuals with TSC receive, called the TSC-PROM. METHODS: COSMIN methodology was used to develop a self-reported and proxy-reported version. Development and validation consisted of the following studies: PROM development, content validity, structural validity, internal consistency, and construct validity. The International Classification of Functioning and Disability was used as a framework. Content validity was examined by a multidisciplinary expert group and cognitive interview study. Structural and construct validity, and internal consistency were examined in a large cohort, using confirmatory factor analysis, hypotheses testing, and Cronbach's alpha. RESULTS: The study resulted in an 82-item self version and 75-item proxy version of the TSC-PROM with four subscales (physical functions 18 and 19 items, mental functions 37 and 28 items, activities and participation 13 and 14 items, social support 13 items, for self version and proxy version respectively). Sufficient results were found for structural validity with sufficient unidimensionality for each subscale. With regard to construct validity, 82% of the hypotheses were met for the self version and 59% for the proxy version. The PROM showed good internal consistency (Cronbach's alpha 0.78-0.97). CONCLUSIONS: We developed a PROM for adults with TSC, named TSC-PROM, showing sufficient evidence for reliability and validity that can be used in clinical and research settings to systematically gain insight into their experiences. It is the first PROM in TSC that addresses the impact of specific TSC manifestations on functioning, providing a valuable, patient-centered addition to the current clinical outcomes.

Impact of hospitalization for vaso-occlusive crisis on health-related quality of life in children with sickle cell disease.

BACKGROUND: Sickle cell disease (SCD) is characterized by vaso-occlusive crises (VOCs) that impair the health-related quality of life (HRQoL). The aim of this study is to evaluate the impact of hospitalization for VOCs on HRQoL in children with SCD over time. METHODS: In this longitudinal cohort study, children aged 8-18 years diagnosed with SCD at the Amsterdam UMC were included between 2012 and 2021. HRQoL was annually measured as part of standard care using the Pediatric Quality of Life Inventory. The impact of hospitalization for VOC on HRQoL was evaluated using linear mixed models 3, 6, 9, and 12 months after hospitalization. The effect of frequency of hospitalization for VOC on HRQoL was evaluated over the last 12 months. RESULTS: In total, 94 children with SCD were included with a median age of 11.8 years (interquartile range [IQR]: 9-14). Thirty-seven patients (39%) had been hospitalized for a VOC. Hospitalization for VOC led to a decrease of 3.2-4.8 points in total HRQoL compared to patients without hospitalization, most pronounced 3 months after hospitalization. Recurrent admission for VOC in the last 12 months was associated with a decrease of 2.3 points in total HRQoL (p = .04). The most affected subscale was physical functioning. CONCLUSION: The adverse effects of hospitalization for VOC in children with SCD persist up to 12 months after hospitalization. After hospitalization for VOC, extra attention and support for its negative impact on HRQoL are recommended. This study also underlines the importance of systematically measuring HRQoL, allowing clinicians to intervene accordingly.

Distress in parents of children with first-onset steroid-sensitive nephrotic syndrome.

BACKGROUND: Steroid-sensitive nephrotic syndrome (SSNS) is associated with a relapsing-remitting course that can be stressful for parents. As little is known of parental distress at the first onset of SSNS, this study aims to describe parental distress and everyday problems in mothers and fathers of a child with newly diagnosed SSNS participating in a randomized controlled trial of levamisole added to corticosteroids. METHODS: To assess distress, the Distress Thermometer for Parents (DT-P) was used, which includes questions on distress (thermometer score 0-10, ≥ 4 "clinical distress") and presence of everyday problems in six domains: practical, social, emotional, physical, cognitive, and parenting. The DT-P was completed 4 weeks after the onset of SSNS. Total sum and individual items of everyday problems were compared with reference data from mothers and fathers of the Dutch general population. RESULTS: There was no difference in clinically elevated parental distress between SSNS mothers (n = 37) and fathers (n = 25) and reference parents. Compared to reference fathers, fathers of a child with SSNS scored significantly higher on emotional problems (P = 0.030), while mothers experienced more parenting problems (P = 0.002). Regression analyses showed that lower parental age and having a girl with SSNS were significantly associated with more practical problems and higher distress thermometer scores, respectively. CONCLUSIONS: Four weeks after onset, SSNS mothers and fathers experience equal distress as reference parents. However, both parents endorsed significantly more everyday problems. Therefore, monitoring parental distress, even in the first weeks of the disease, could contribute to timely interventions and prevent worsening of problems. CLINICAL TRIAL REGISTRY: Dutch Trial Register ( https://onderzoekmetmensen.nl/en/trial/27331 ). A higher resolution version of the Graphical abstract is available as Supplementary information.

Development of a standard set of PROs and generic PROMs for Dutch medical specialist care : Recommendations from the Outcome-Based Healthcare Program Working Group Generic PROMs.

PURPOSE: The added value of measuring patient-reported outcomes (PROs) for delivering patient-centered care and assessment of healthcare quality is increasingly evident. However, healthcare system wide data collection initiatives are hampered by the proliferation of patient-reported outcome measures (PROMs) and conflicting data collection standards. As part of a national initiative of the Dutch Ministry of Health, Welfare and Sport we developed a consensus-based standard set of generic PROs and PROMs to be implemented across Dutch medical specialist care. METHODS: A working group of mandated representatives of umbrella organizations involved in Dutch medical specialist care, together with PROM experts and patient organizations worked through a structured, consensus-driven co-creation process. This included literature reviews, online expert and working group meetings, and feedback from national patient- and umbrella organizations. The 'PROM-cycle' methodology was used to select feasible, valid, and reliable PROMs to obtain domain scores for each of the PROs included in the set. RESULTS: Eight PROs across different domains of health were ultimately endorsed: symptoms (pain & fatigue), functioning (physical, social/participation, mental [anxiety & depression]), and overarching (quality of life & perceived overall health). A limited number of generic PROMs was endorsed. PROMIS short forms were selected as the preferred instruments for all PROs. Several recommendations were formulated to facilitate healthcare system level adoption and implementation of the standard set. CONCLUSIONS: We developed a consensus-based standard set of Generic PROMs and a set of recommendations to facilitate healthcare system wide implementation across Dutch medical specialist care.

Health-related quality of life of children with first onset steroid-sensitive nephrotic syndrome.

This study assessed HRQoL and emotional and behavioral difficulties (EBD) and associated variables in children with first onset SSNS. While relapsing steroid-sensitive nephrotic syndrome (SSNS) in children is associated with lower health-related quality of life (HRQoL), little is known about first onset. Four weeks after onset, children (2-16 years) and/or their parents who participated in a randomized placebo-controlled trial, completed the Pediatric Quality of Life Inventory 4.0 (PedsQL) and Strengths and Difficulties Questionnaire (SDQ) to measure HRQoL and EBD, respectively. Total and subscale scores and the proportion of children with impaired HRQoL (> 1 SD below the mean of the reference group) or SDQ clinical scores (< 10th and > 90th percentile) were compared to the Dutch general population (reference group). Regression analyses were used to identify associated variables. Compared to the reference group, children 8-18 years reported significantly lower total HRQoL, and physical and emotional functioning. A large proportion (> 45%) of these children had impaired HRQoL. There were no differences in HRQoL between children 2-7 years and the reference group, except for higher scores on social functioning (5-7 years). Similar proportions of SSNS and reference children scored within the clinical range of SDQ subscales. Age, sex, and steroid side-effects were negatively associated with HRQol and/or EBD.   Conclusion: This study showed that HRQoL and EBD are affected in children of different ages with first onset SSNS. This calls for more awareness from healthcare providers and routinely monitoring of HRQoL and EBD in daily clinical care to prevent worsening of symptoms.   Clinical trial registry: Netherlands Trial Register ( https://trialsearch.who.int/ ; NTR7013), date of registration: 02 June 2018. What is Known: •  Health-related quality of life (HRQoL) is lower and emotional and behavioral difficulties (EBD) is more affected in children with frequently-relapsing and steroid-dependent nephrotic syndrome. What is New: •  HRQoL and EBD are affected in children with first onset steroid-sensitive nephrotic syndrome compared to a reference group of the Dutch general population. • To what extent HRQoL and EBD are affected depends on the age of the patient.

Neurocognitive, Psychosocial, and Quality of Life Outcomes After Multisystem Inflammatory Syndrome in Children Admitted to the PICU.

OBJECTIVES: To investigate neurocognitive, psychosocial, and quality of life (QoL) outcomes in children with Multisystem Inflammatory Syndrome in Children (MIS-C) seen 3-6 months after PICU admission. DESIGN: National prospective cohort study March 2020 to November 2021. SETTING: Seven PICUs in the Netherlands. PATIENTS: Children with MIS-C (0-17 yr) admitted to a PICU. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Children and/or parents were seen median (interquartile range [IQR] 4 mo [3-5 mo]) after PICU admission. Testing included assessment of neurocognitive, psychosocial, and QoL outcomes with reference to Dutch pre-COVID-19 general population norms. Effect sizes (Hedges' g ) were used to indicate the strengths and clinical relevance of differences: 0.2 small, 0.5 medium, and 0.8 and above large. Of 69 children with MIS-C, 49 (median age 11.6 yr [IQR 9.3-15.6 yr]) attended follow-up. General intelligence and verbal memory scores were normal compared with population norms. Twenty-nine of the 49 followed-up (59%) underwent extensive testing with worse function in domains such as visual memory, g = 1.0 (95% CI, 0.6-1.4), sustained attention, g = 2.0 (95% CI 1.4-2.4), and planning, g = 0.5 (95% CI, 0.1-0.9). The children also had more emotional and behavioral problems, g = 0.4 (95% CI 0.1-0.7), and had lower QoL scores in domains such as physical functioning g = 1.3 (95% CI 0.9-1.6), school functioning g = 1.1 (95% CI 0.7-1.4), and increased fatigue g = 0.5 (95% CI 0.1-0.9) compared with population norms. Elevated risk for posttraumatic stress disorder (PTSD) was seen in 10 of 30 children (33%) with MIS-C. Last, in the 32 parents, no elevated risk for PTSD was found. CONCLUSIONS: Children with MIS-C requiring PICU admission had normal overall intelligence 4 months after PICU discharge. Nevertheless, these children reported more emotional and behavioral problems, more PTSD, and worse QoL compared with general population norms. In a subset undergoing more extensive testing, we also identified irregularities in neurocognitive functions. Whether these impairments are caused by the viral or inflammatory response, the PICU admission, or COVID-19 restrictions remains to be investigated.

Internalizing problems before and during the COVID-19 pandemic in independent samples of Dutch children and adolescents with and without pre-existing mental health problems.

The aim of the study was to assess internalizing problems before and during the pandemic with data from Dutch consortium Child and adolescent mental health and wellbeing in times of the COVID-19 pandemic, consisting of two Dutch general population samples (GS) and two clinical samples (CS) referred to youth/psychiatric care. Measures of internalizing problems were obtained from ongoing data collections pre-pandemic (NGS = 35,357; NCS = 4487) and twice during the pandemic, in Apr-May 2020 (NGS = 3938; clinical: NCS = 1008) and in Nov-Dec 2020 (NGS = 1489; NCS = 1536), in children and adolescents (8-18 years) with parent (Brief Problem Monitor) and/or child reports (Patient-Reported Outcomes Measurement Information System®). Results show that, in the general population, internalizing problems were higher during the first peak of the pandemic compared to pre-pandemic based on both child and parent reports. Yet, over the course of the pandemic, on both child and parent reports, similar or lower levels of internalizing problems were observed. Children in the clinical population reported more internalizing symptoms over the course of the pandemic while parents did not report differences in internalizing symptoms from pre-pandemic to the first peak of the pandemic nor over the course of the pandemic. Overall, the findings indicate that children and adolescents of both the general and clinical population were affected negatively by the pandemic in terms of their internalizing problems. Attention is therefore warranted to investigate long-term effects and to monitor if internalizing problems return to pre-pandemic levels or if they remain elevated post-pandemic.

Health-related quality of life in infants, toddlers and young children with sickle cell disease.

BACKGROUND: Little is known about health-related quality of life (HRQoL) in young children with sickle cell disease living in a European country. METHODS: A retrospective cross-sectional evaluation of TNO-AZL Preschool Children Quality of Life questionnaire (TAPQOL, 0-1 year) and Pediatric Quality of Life Inventory (PedsQL, 2-7 years) data was conducted. Study participants included caregivers of children with sickle cell disease aged 0-7 years attending the sickle cell centre at the Erasmus Medical Center or the Amsterdam University Medical Centers between April 2012 and October 2020. Comparisons were made with normative data on HRQoL in the general paediatric population. RESULTS: The study enrolled 136 caregivers of 136 children. In children aged 0-5 years, no significant differences emerged between children with sickle cell disease and the general population. However, in children aged 5-7 years, children with sickle cell disease scored significantly lower on all subscales except for emotional functioning. Multiple regression models showed a negative association between age and HRQoL. No association was found between HRQoL and disease severity or sociodemographic characteristics. CONCLUSIONS: This study demonstrates that HRQoL is negatively correlated with age in young children with sickle cell disease with a significantly lower HRQoL in 5- to 7-year-olds when compared to the general population. Our study underlines the importance of measuring HRQoL in young children to identify patients with impaired HRQoL early in life in order to be able to intervene accordingly. Future research should focus on deepening the knowledge of factors influencing HRQoL in children with sickle cell disease.

Longitudinal Development of Health-related Quality of Life and Fatigue in Children on Home Parenteral Nutrition.

OBJECTIVES: The aim of the study was to describe the longitudinal development of health-related quality of life (HRQOL) and fatigue in children with chronic intestinal failure (CIF) on home parenteral nutrition (PN) and compare these children to the general population. METHODS: Prospective, observational study conducted over 7 years in patients suffering from CIF receiving home PN from 2 tertiary hospitals in the Netherlands. Every 6 months, parents (if child <8 years old) or patients (if child ≥8 years old) completed 2 questionnaires: Pediatric Quality of Life Inventory 4.0 (PedsQL) Generic and Fatigue on the KLIK (kwaliteit van leven in kaart [Dutch Acronym for Quality of Life in Clinical Practice]) Patient Reported Outcome Measures portal, which were compared with the general population. Linear mixed models (LMMs) were constructed to investigate the course of HRQOL over time. RESULTS: Thirty-five patients were included (40% girls). At time of last KLIK contact, patients received HPN for a median of 5.3 years (interquartile range [IQR]: 2.9-9.7). In total, 272 questionnaires were completed. PedsQL generic total score for ages 5 to 7 and 8 to 12 years was significantly lower than the general population (P < 0.01 for both age groups) with effect sizes of 0.73 and 0.71, respectively. PedsQL fatigue total score for ages 5 to 7 years was also significantly lower (P = 0.01; effect size 0.70). LMMs for PedsQL Generic and Fatigue total score 2 to 7 and 8 to 18 years showed no significant coefficient for duration of home PN. CONCLUSIONS: Children suffering from CIF receiving home PN ages 5 to 12 years report lower HRQOL scores than the general population. HRQOL and fatigue do not change during long-term treatment with home PN in these children.

Linking the RCADS-25 to the PROMIS® pediatric item banks Anxiety and Depressive Symptoms in a general Dutch population sample.

PURPOSE: This study aims to link scores of the Revised Child Anxiety and Depression Scale short version (RCADS-25) to the metric of the PROMIS pediatric item banks Anxiety and Depressive Symptoms in a general Dutch population sample. METHODS: The RCADS-25 and PROMIS pediatric item banks Anxiety and Depressive Symptoms were administered online to 2,893 Dutch children and adolescents aged 8-18. Assumptions for linking methods were checked. Linking was achieved by using three item response theory (IRT) and two equipercentile methods. For each method, the observed PROMIS metric scores were compared to the ones predicted from the RCADS-25 subscale scores using correlations, mean and SD of differences, and RMSD. RESULTS: The assumptions for IRT-based and equipercentile linking were met. The IRT-based method using separate calibration with Stocking-Lord constants was considered the optimal choice for linking both RCADS-25 subscales to the PROMIS metric. Based on this Stocking-Lord approach, we created item parameters for RCADS-25 items and two crosswalk tables. CONCLUSION: The RCADS-25 item parameters and crosswalk tables presented in this study are sufficiently valid. Researchers can use these products to translate the RCADS-25 anxiety and depression subscales scores to the PROMIS metric in order to ensure comparability with the previous research.

Patients' and parents' perspective on the implementation of Patient Reported Outcome Measures in pediatric clinical practice using the KLIK PROM portal.

INTRODUCTION: The KLIK Patient Reported Outcome Measures (PROM) portal ( www.hetklikt.nu ) has been implemented since 2011 in clinical practice in over 20 Dutch hospitals. Patients and/or parents complete PROMs before the outpatient consultation and answers are subsequently discussed by clinicians during consultation. This study aims to provide insight into patients' and parents' perspective on the use of the KLIK PROM portal in order to optimize its implementation in pediatric clinical practice. METHODS: Patients (12-19 years) and parents (of children 0-19 years) from the Emma Children's Hospital were invited to participate. A mixed-method design was used; (1) Focus groups were held and analyzed using thematic analysis in psychology, (2) a questionnaire was sent out and analyzed using descriptive statistics. RESULTS: (1) Eight patients and 17 parents participated. Patients mentioned that KLIK has an attractive layout. However, PROMs were sometimes considered irrelevant and repetitive. Parents valued that KLIK provides insight into their child's functioning, but they were not satisfied with the extent to which PROMs were discussed by clinicians. (2) 31 patients and 130 parents completed the questionnaire. Overall, patients and parents reported a satisfaction score of 7.9/10 and 7.3/10, respectively. 81% of patients and 74% of parents indicated that KLIK is easy to use. CONCLUSION: Patients and parents are generally satisfied with KLIK, however, points of improvement were mentioned. These are currently being addressed by e.g., upgrading the KLIK website, implementing PROMIS item banks in KLIK to reduce irrelevancy and repetitiveness of PROMs, and implementation strategies to improve the discussion-rate. In this way, implementation of the KLIK PROM portal can be further optimized, with the ultimate goal to improve quality of care.

Advances in measuring pediatric overall health: the PROMIS® Pediatric Global Health scale (PGH-7).

In this cross-sectional study, we aimed to assess the reliability, validity, and efficiency of the Patient-Reported Outcomes Measurement Information System (PROMIS) Pediatric Global Health scale (PGH-7) to reduce patient burden when assessing overall health in clinical practice. In total, 1082 children (8-18), representative of the Dutch population, completed the PGH-7 and the Pediatric Quality of Life Inventory (PedsQL™ 4.0), a common legacy instrument used in clinical practice to assess overall health. The assumptions for fitting an item response theory model were assessed: unidimensionality, local independence, and monotonicity. Subsequently, a model was fitted to the data to assess item fit and cultural differential item functioning (DIF) between Dutch and US children. A strong correlation (> .70) was expected between the PGH-7 and PedsQL, as both instruments measure physical, mental, and social domains of health. Percentages of participants reliably measured (> 0.90) were assessed using the standard error of measurement (SE(θ) < 0.32). Efficiency was calculated ((1 - SE(θ)2)/nitems) to compare how well both measures performed relative to number of items administered. The PGH-7 met all assumptions and displayed good structural and convergent (r = .69) validity. One item displayed cultural DIF. Both questionnaires measured reliably (%nPGH-7 = 73.8%, %nPedsQL = 76.6%) at the mean and 2SD in clinically relevant direction. PGH-7 items were 2.6 times more efficient in measuring overall health than the PedsQL.   Conclusion: The PGH-7 displays sufficient validity and reliability in the general Dutch pediatric population and measures more efficiently than the PedsQL, the most commonly used legacy instrument. The PGH-7 can be used in research and clinical practice to reduce patient burden when assessing overall health. What is Known: • Generic instruments which validly and reliably assess overall pediatric health are scarce. • Brief instruments are required for implementation of self-report patient-reported outcomes in clinical practice. What is New: • The PROMIS Pediatric Global Health (PGH-7) can be used in research and clinical practice to briefly assess overall pediatric health, while providing valid and reliable measurements. • The PGH-7 provides more efficient assessment of pediatric overall health than the Pediatric Quality of Life Inventory.

Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.

OBJECTIVE: Faster and cheaper next generation sequencing technologies have enabled expansion of carrier screening for recessive disorders, potentially facilitating population-based implementation regardless of ancestry or family history. Little is known, however, about the attitudes regarding population-based carrier screening among families with genetic disorders. This study assessed views among parents and patients with a recessive disorder and parents of children with Down syndrome (DS) on expanded carrier screening (ECS). METHOD: In total, 85 patients with various recessive disorders, 110 parents of a child with a recessive disorder and 89 parents of a child with DS participated in an online survey in the Netherlands. Severity of recessive disorders was classified as mild/moderate or severe/profound. RESULTS: The majority of the (parents of) patients with a recessive disorder had a positive attitude towards population-based ECS, including screening for their own or their child's disorder. DS parents were significantly less positive towards ECS. Subgroup analyses showed that the severity of the disorder, rather than being a patient or parent, influences the attitudes, beliefs and intention to participate in ECS. CONCLUSION: Our findings have important implications for future implementation initiatives as they demonstrate the different perspectives from people with experiential knowledge with genetic disorders.

Including the voice of paediatric patients: Cocreation of an engagement game.

BACKGROUND: Engaging patients in health care, research and policy is essential to improving patient-important health outcomes and the quality of care. Although the importance of patient engagement is increasingly acknowledged, clinicians and researchers still find it difficult to engage patients, especially paediatric patients. To facilitate the engagement of children and adolescents in health care, the aim of this project is to develop an engagement game. METHODS: A user-centred design was used to develop a patient engagement game in three steps: (1) identification of important themes for adolescents regarding their illness, treatment and hospital care, (2) evaluation of the draft version of the game and (3) testing usability in clinical practice. Adolescents (12-18 years) were engaged in all steps of the development process through focus groups, interviews or a workshop. These were audio-recorded, transcribed verbatim and analysed in MAXQDA. RESULTS: (1) The important themes for adolescents (N = 15) were included: visiting the hospital, participating, disease and treatment, social environment, feelings, dealing with staff, acceptation, autonomy, disclosure and chronically ill peers. (2) Then, based on these themes, the engagement game was developed and the draft version was evaluated by 13 adolescents. Based on their feedback, changes were made to the game (e.g., adjusting the images and changing the game rules). (3) Regarding usability, the pilot version was evaluated positively. The game helped adolescents to give their opinion. Based on the feedback of adolescents, some last adjustments (e.g., changing colours and adding a game board) were made, which led to the final version of the game, All Voices Count. CONCLUSIONS: Working together with adolescents, All Voices Count, a patient engagement game was developed. This game provides clinicians with a tool that supports shared decision-making to address adolescents' wishes and needs. PATIENT OR PUBLIC CONTRIBUTION: Paediatric patients, clinicians, researchers, youth panel of Fonds NutsOhra and patient associations (Patient Alliance for Rare and Genetic Diseases, Dutch Childhood Cancer Organization) were involved in all phases of the development of the patient engagement game-from writing the project plan to the final version of the game.

Perceived stress, family impact, and changes in physical and social daily life activities of children with chronic somatic conditions during the COVID-19 pandemic.

BACKGROUND: The COVID-19 pandemic has inevitably affected children and their families. This study examines the impact of the COVID-19 measures in children with chronic somatic conditions (CSC) and their parents and compares them with a Dutch general population sample. METHODS: We included a sample of children with CSC (0-18 years, n = 326) and compared them with children (8-18 years, n = 1,287) from the Dutch general population. Perceived stress, coping, social interaction with friends and family, physical activity, eating behavior, family support, parenting perception, and financial situation were assessed once with the self-reported and parent-reported COVID-19 child check questionnaire, between November 2020 and May 2021. Comparisons between the two samples were made by using t-tests and chi square tests. RESULTS: The proportion of children who reported being less physically active and having less social interaction with friends since the COVID-19 pandemic was higher in children with CSC than in children from the general population. Children with CSC and their parents experienced less stress than children and parents from the general population. Moreover, parents of children with CSC aged 0-7 years and parents of children aged 8-18 years from the general population experienced less support and more financial deterioration than parents of children with CSC aged 8-18 years. In the parents from the general population only, this deteriorated financial situation was associated with more stress, worse family interaction and parenting perception, and less received support. CONCLUSIONS: The impact of COVID-19 on children with CSC and their parents differed from those in the general population. Addressing the collateral damage of COVID-19 measures in children and their families may give direction to policy and potentially prevent lifelong impact.

Follow-up of infants with colic into childhood: Do they develop behavioural problems?

AIM: To assess whether infants with colic (IC) demonstrate persisting developmental dysregulation into childhood, manifested as behavioural problems, and to determine if these behavioural problems are associated with parenting factors. METHODS: Preschool children with a history of IC at the age of 0-3 months, as defined by the Wessel criteria, were invited to participate in an observational follow-up study, in which their caregivers completed the Child Behaviour Checklist (CBCL). Raw scores and clinical-range scores on the internalising, externalising and total behavioural problems scales were compared with a Dutch normative sample using independent t-tests and Chi-square tests. For the clinical-range scores, multivariable logistic regressions (odds ratios [99% confidence interval, CI]) were used to adjust for confounders and to identify variables associated with behavioural problems. RESULTS: Two hundred and fifty-eight children with a history of IC (median age 5.1 (interquartile range, IQR 4.6-5.5) years, 51.9% boys) were included. The cases had a significantly higher adjusted risk (adjusted odds ratios (aORs) [99% CI]) of scoring in the clinical range of the emotionally reactive, internalising and total problems scale (2.96 [1.24-7.06]; 2.50 [1.35-4.62]; 2.98 [1.46-6.07], respectively). Internalising (P < 0.001), externalising (P < 0.001) and total (P < 0.001) behavioural problems in children with a history of IC were associated with higher parenting stress scores. CONCLUSIONS: Children with a history of IC demonstrated significantly more internalising behavioural problems at preschool age compared to the norm sample. Specific advice and support need to be available for parents to understand and regulate the behaviour of their child, from infancy to childhood.

COVID-19 lockdown impacts the wellbeing of parents with infants on a Dutch neonatal intensive care unit.

PURPOSE: Parents of infants admitted to a neonatal intensive care unit (NICU) experience additional stress due to restrictions on their presence and visits by other family members during the COVID-19 pandemic. Our study aims to describe how this impacted parents and how NICU staff could support them. DESIGN AND METHODS: This was a cross-sectional study in which 25 parents (16 mothers, 9 fathers) of infants admitted to our NICU during the first COVID-19 lockdown completed online questionnaires with socio-demographic questions, the Parental Stressor Scale:NICU (PSS:NICU) and questions related to COVID-19. RESULTS: Being separated from, and not being able to hold their infant at all times were among the most important PSS:NICU stressors. Parents experienced additional stress because other family members were not allowed to visit. They indicated that NICU staff could support them by clearly explaining the reasons for visitor restrictions and by ensuring that they felt heard. Most parents supported the restrictions, but also mentioned that less strict measures would really help them. CONCLUSIONS: Parents who participated in this study found it very stressful that they could not be with their infant together with their partner and other family members. Furthermore, parents recommended the hospital management to continuously reconsider whether particular restrictions could be lifted in case of a new lockdown. Together with clear communication, this would result in less parenteral stress. PRACTICE IMPLICATIONS: Hospital management should be cautious on restricting the presence of parents and other family members and scale restrictions back whenever possible.

Parenting a child with Marfan syndrome: Distress and everyday problems.

Marfan syndrome (MFS) is a multisystemic, autosomal dominant connective tissue disorder that occurs de novo in 25%. In many families, parent and child(ren) are affected, which may increase distress in parents. To assess distress, 42 mothers (29% MFS) and 25 fathers (60% MFS) of 43 affected children, completed the validated screening-questionnaire Distress thermometer for parents of a chronically ill child, including questions on overall distress (score 0-10; ≥4 denoting "clinical distress") and everyday problems (score 0-36). Data were compared to 1,134 control-group-parents of healthy children. Mothers reported significantly less overall distress (2, 1-4 vs. 3, 1-6; p = .049; r = -.07) and total everyday problems (3, 0-6 vs. 4, 1-8; p = .03; r = -.08) compared to control-group-mothers. Mothers without MFS reported significantly less overall distress compared to mothers with MFS, both of a child with MFS (1, 0-4 vs. 3.5, 2-5; p = .039; r = -.17). No significant differences were found between the father-groups, nor between the group of healthy parents of an affected child living together with an affected partner compared to control-group-parents. No differences in percentages of clinical distress were reported between mothers and control-group-mothers (33 vs. 42%); fathers and control-group-fathers (28 vs. 32%); nor between the other groups. Distress was not associated with the children's MFS characteristics. Concluding, parents of a child with MFS did not show more clinical distress compared to parents of healthy children. However, clinical distress was reported in approximately one-third and may increase in case of acute medical complications. We advise monitoring distress in parents of a child with MFS to provide targeted support.

A qualitative study on the experiences of haemophilia carriers before, during and after pregnancy.

INTRODUCTION: Haemophilia carriers (HCs) face considerable haemostatic and psychological challenges during reproduction. AIM: To explore the perspectives of HCs on healthcare in the current standard of haemophilia treatment during all reproductive phases: preconception, pregnancy, childbirth and the postpartum period. In addition, we examined the psychological impact of haemophilia during these phases. MATERIAL AND METHODS: Focus group discussions (FGDs) and semi-structured interviews were conducted with HCs in January/February 2020 until data saturation was reached. All sessions were recorded, transcribed verbatim and analysed by two independent researchers through thematic content analysis using MAXQDA® software. The results were then discussed within the research team until consensus was reached. The constructed themes were shared with and reviewed by the HCs. RESULTS: Fifteen HCs were included in three FGDs and four interviews. Five central themes were constructed: (1) communication by healthcare professionals, (2) lack of knowledge, (3) feeling insecure, (4) autonomy and (5) family experiences with haemophilia. Desired improvements in care mainly concerned counselling during preconception and pregnancy. This included timely access to comprehensive information during each consecutive phase, acceptance of HCs' choices by healthcare providers and healthcare tailored to the HC's family experience with haemophilia. CONCLUSIONS: In recent years, haemophilia treatment has seen major advances, which could impact general and reproductive care for HCs. HCs indicated that reproductive care would benefit from a more personal and informative approach. Healthcare professionals could use these insights to adapt their consultations to meet the needs of these women when they are preparing for having children.

Managing women-specific bleeding in inherited bleeding disorders: A multidisciplinary approach.

INTRODUCTION: Multidisciplinary management of women-specific bleeding is important to preserve quality of life, healthy reproduction and social participation of women and girls with bleeding disorders (WBD). AIM: To support appropriate multidisciplinary care for WBD in haemophilia treatment centres. METHODS: Two case examples are presented and management issues discussed from different health care perspectives, including the nurse, patient, psychologist, gynaecologist, geneticist, psychosexual therapist and haematologist. RESULTS: Woman with bleeding disorders may experience heavy menstruation from menarche onwards. This has a physical and psychosocial impact requiring a multidisciplinary approach. If a woman with an inherited bleeding disorder desires to become pregnant, preconception counselling is essential, to discuss genetic diagnosis, state of the art treatment options for the bleeding disorder in question and possible choices to prevent having an affected child, as well as maternal bleeding risks during conception, delivery and the post-partum period. CONCLUSION: Adequate management and good education of WBD requires a patient-centred multidisciplinary approach with experienced specialists in a haemophilia treatment centre.