Health-related quality of life in children with congenital vascular malformations.

Unlabelled: A cross-sectional study was performed to evaluate health-related quality of life (HRQOL) in children with congenital vascular malformations (CVM) and to investigate factors associated with an impaired HRQOL. Children (2-17 years) with CVMs who visited the HECOVAN expertise center between 2016-2018 were included. The PedsQL 4.

[Children and adolescents with gender questions: dilemmas in the hormonal treatment by multidisciplinary teams].

In the Netherlands but also in many other countries, there is an increasing social discussion about gender identity and gender diversity, and an increasing number of children and adolescents are seeking medical help because of questions about their gender identity. The cause of this increase is still unknown. Gender questions are diverse and require an individual approach by a multidisciplinary team.

Uncertainty in complex healthcare settings - The need for a comprehensive approach.

Uncertainty is increasingly recognized as a crucial phenomenon throughout medical practice. Research on uncertainty so far has been scattered across disciplines, leading to a lack of consensus about what uncertainty represents and minimal integration of knowledge obtained within isolated disciplines. Currently, a comprehensive view of uncertainty which does justice to normatively or interactionally challenging healthcare settings is lacking.

Cognitive functioning and mental health in children with a primary mitochondrial disease.

Background: Studies regarding cognitive and mental health functioning in children with mitochondrial disease (MD) are scarce, while both are important issues given their impact on QoL. Knowledge on these aspects of functioning and its relationship with disease parameters is essential to gather more insight in working mechanisms and provide recommendations for future research and patientcare. The aim of this study was to map the cognitive functioning and mental health in children with MD in relation to disease specific factors.

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant.

Severe fatigue is a common complaint in patients with primary mitochondrial disease. However, less is known about the course of fatigue over time. This longitudinal observational cohort study of patients with the mitochondrial DNA 3243 A>G variant explored trajectories of fatigue over 2 years, and characteristics of patients within these fatigue trajectories.

A conceptual disease model for quality of life in mitochondrial disease.

Background: Previous studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, and a lower quality of life (QoL). The relationship with biological and physiological factors remains complex. The aim of this study is to investigate the status of and interrelationships between biological and physiological functioning, cognitive functioning as well as fatigue, depression, societal participation, health perceptions, and QoL, by using the Wilson and Cleary conceptual disease model, adapted to MD.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Background: Challenges faced by children diagnosed with a rare disease or complex condition and their family members are often characterized by disease-specific complexities, such as a prolonged diagnostic process, an uncertain prognosis, and the absence of curative treatment. The psychological burden of living with a rare disease or complex condition is often understudied and may present overarching concepts that shape the general experience of having been diagnosed with a rare condition. The present study examines common needs from a comprehensive perspective combining relevant aspects from the rare disease literature in a theoretical perspective from pediatric psychology, such as a family-centred, developmental and interdisciplinary approach.

Sexual Self-Concept in Women with Disorders/Differences of Sex Development.

Many women born with disorders or differences of sex development (DSD) report sexual problems, in particular women who have undergone extensive genital reconstruction. Examining cognitions and emotions that hinder or promote sexuality may facilitate understanding these sexual problems and may contribute to the development of specific interventions. In this study, sexual self-concept, body image, and sexual functioning were investigated in relation to genital surgery.

Determining the effectiveness of cognitive behavioural therapy in improving quality of life in patients undergoing endometriosis surgery: a study protocol for a randomised controlled trial.

Introduction: Endometriosis can cause chronic pain and subfertility thereby negatively affecting quality of life (QoL). Surgical removal of endometriosis lesions leads to improved health-related QoL, although not to the level of QoL of healthy controls. Pain intensity and cognitions regarding pain can play a crucial role in this health-related QoL following surgical treatment.

Parental decisional regret after surgical treatment in young boys born with hypospadias.

Background/purpose: Parental decisional conflict and decisional regret are aspects in parental adjustment to childhood elective surgery. This study assessed correlates of parental decisional regret in parents of young boys treated for hypospadias.

Methods: Parents of 261 boys treated for hypospadias at the Radboudumc between 2006 and 2014 were approached to complete questionnaires on socio-demographics, clinical details, postoperative outcomes, decisional conflict and decisional regret.

Blended cognitive behaviour therapy for children and adolescents with mitochondrial disease targeting fatigue (PowerMe): study protocol for a multiple baseline single case experiment.

Background: Mitochondrial disease is a rare, hereditary disease with a heterogeneous clinical presentation. However, fatigue is a common and burdensome complaint in children and adolescents with mitochondrial disease. No psychological intervention targeting fatigue exists for paediatric patients with a mitochondrial disease.

Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review.

Mitochondrial diseases (MDs) are rare, heterogeneous, hereditary and progressive in nature. In addition to the serious somatic symptoms, patients with MD also experience problems regarding their cognitive functioning and mental health. We provide an overview of all published studies reporting on any aspect of cognitive functioning and/or mental health in patients with MD and their relatives.

Communication and ethical considerations for fertility preservation for patients with childhood, adolescent, and young adult cancer: recommendations from the PanCareLIFE Consortium and the International Late Effects of Childhood Cancer Guideline Harmonization Group.

Patients with childhood, adolescent, and young adult cancer who will be treated with gonadotoxic therapies are at increased risk for infertility. Many patients and their families desire biological children but effective communication about treatment-related infertility risk and procedures for fertility preservation does not always happen. The PanCareLIFE Consortium and the International Late Effects of Childhood Cancer Guideline Harmonization Group reviewed the literature and developed a clinical practice guideline that provides recommendations for ongoing communication methods for fertility preservation for patients who were diagnosed with childhood, adolescent, and young adult cancer at age 25 years or younger and their families.

Gender incongruence and gender dysphoria in childhood and adolescence-current insights in diagnostics, management, and follow-up.

Gender incongruence (GI) is defined as a condition in which the gender identity of a person does not align with the gender assigned at birth. Awareness and more social acceptance have paved the way for early medical intervention about two decades ago and are now part of good clinical practice although much robust data is lacking. Medical and mental treatment in adolescents with GI is complex and is recommended to take place within a team of mental health professionals, psychiatrists, endocrinologists, and other healthcare providers.

Communication matters: The role of autonomy-supportive communication by health care providers and parents in adolescents with type 1 diabetes.

Aims: Although research exists on parental communication in adolescents with type 1 diabetes (T1D), the role of communication by health care providers remains understudied. Grounded in Self-Determination Theory, this study examined the role of autonomy-supportive communication (i.e.

Psychological functioning in children suspected for mitochondrial disease: the need for care.

Background: Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. The complexity and duration of the diagnostic process and lack of knowledge about prognosis leads to uncertainty.

What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members' opinion.

Purpose: Since pediatric surgeons aim to follow their patients with anorectal malformations (ARM) into adulthood the aim of this study was to investigate how pediatric surgeons deal with sexual issues related to ARM.

Methods: In 2018, a questionnaire was developed by the working group "Follow-up and sexuality" of the ARM-Net consortium and sent to all consortium-linked pediatric surgeons from 31 European pediatric surgical centers. Obtained data were statistically analyzed.

Health-Related Quality of Life of Adolescents with Cancer During the First Year of Treatment.

Adolescents with cancer (aged 12-18 years) are at risk for impaired health-related quality of life (HRQoL). Little is known about this population during treatment. This study aimed to (1) determine the HRQoL of adolescents with cancer during the first year of treatment and compare them with age-matched peers and (2) obtain insight into cancer-specific HRQoL of adolescents during the first year of treatment.

Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study.

Mutations in RYR1 are a common genetic cause of non-dystrophic neuromuscular disorders. To obtain baseline data concerning the prevalence of fatigue, the psychological disease burden and quality of life associated with these common conditions, we performed a questionnaire study. Seventy-two patients were included in this study, 33 with a congenital myopathy and 39 with malignant hyperthermia or exertional rhabdomyolysis.

Fear of disease progression in carriers of the m.3243A > G mutation.

Background: Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so leaving patients with considerable uncertainty regarding their prognosis and treatment possibilities.

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders.

KH176 is a potent intracellular reduction-oxidation-modulating compound developed to treat mitochondrial disease. We studied tolerability, safety, pharmacokinetics, pharmacodynamics, and efficacy of twice daily oral 100 mg KH176 for 28 days in a double-blind, randomized, placebo-controlled, two-way crossover phase IIA study in 18 adult m.3243A>G patients without cardiovascular involvement.