Diagnosis Of Children Research Articles

Research Review: A systematic review and meta-analysis of infant and toddler temperamentaspredictors of childhood attention-deficit/hyperactivity disorder.

Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder with onset as early as preschool and impairment across the lifespan. Temperament factors, specifically those that theoretically map onto ADHD symptoms, may be early markers of risk for developing later childhood ADHD that could be identifiable in infancy or toddlerhood. This meta-analysis examined the associations between these early temperamental factors and later symptoms and diagnosis of ADHD and mapped early temperament constructs onto the three ADHD symptom dimensions. A systemic review of the literature was conducted to identify prospective longitudinal studies that included theoretically relevant temperament constructs (sustained attention, activity level, inhibition, and negative emotionality) examined from birth to 36 months old and ADHD (symptoms or diagnosis) in preschool or childhood. The association between each temperament construct and ADHD outcomes was examined using pooled standardized estimates in meta-analyses. Forty-eight articles (n=112,716 infants/toddlers) prospectively examined temperament and the relation to childhood ADHD symptoms or diagnosis. Activity level (k=18) in infancy and toddlerhood was moderately associated with childhood ADHD (r=.39, CI=0.27, 0.51, p < .001). Moderate effect sizes were also observed for sustained attention (k=9; r=-.28, CI=-0.42, -0.12, p < .001) and negative emotionality (k=33; r=.25, CI=0.16, 0.34, p < .001) with ADHD. The specificity of each temperament construct for later ADHD symptom dimensions was such that activity level and negative emotionality were predictive of all three symptom dimensions (i.e., inattention, hyperactivity/impulsivity, and combined), whereas sustained attention was only associated with combined symptoms. Infant and toddler temperament is an early risk factor for the development of childhood ADHD that could be utilized for early intervention identification. Yet, this systematic review found that relatively few prospective longitudinal studies have examined sustained attention (k=9) and inhibition (k=15) in infancy and toddlerhood in relation to later ADHD highlighting the need for further research.

The role of inflammation in the prospective associations between early childhood sleep problems and ADHD at 10 years: findings from a UK birth cohort study.

Several underlying mechanisms potentially account for the link between sleep and attention deficit and hyperactivity disorder (ADHD), including inflammation. However, studies so far have been cross sectional. We investigate (a) the association between early childhood sleep and probable ADHD diagnosis in childhood and (b) whether childhood circulating inflammatory markers mediate these prospective associations. Data from the Avon Longitudinal Study of Parents and Children were available for 7,658 10-year-old children. Parent-reported sleep duration, night awakening frequency and regular sleep routines were collected at 3.5 years. The Development and Wellbeing Assessment was administered to capture children with clinically relevant ADHD symptoms, or probable ADHD diagnosis. Blood samples were collected at 9 years, from which two inflammatory markers were obtained [interleukin-6 (IL-6) and C-reactive protein (CRP)]. Logistic regression analyses were applied to investigate the associations between sleep variables at 3.5 years and probable ADHD diagnosis at 10 years. Further, path analysis was applied to examine the potential mediating role of inflammation at 9 years (as measured by CRP and IL-6) in the associations between early sleep and ADHD at 10 years. Less regular sleep routines (OR=0.51, 95% CI=0.28-0.93, p=.029), shorter nighttime sleep (OR=0.70, 95% CI=0.56-0.89, p=.004) and higher night awakening frequency (OR=1.27, 95% CI=1.06-1.52, p=.009) at 3.5 years were associated with higher odds of ADHD at 10 years. Further, IL-6 at 9 years, but not CRP, mediated the association between irregular sleep routines and ADHD (bias-corrected estimate, -0.002; p=.005) and between night awakening and ADHD (bias-corrected estimate, 0.002; p=.003). Several sleep problems in early childhood constitute a risk factor for probable ADHD diagnosis at 10 years. Further, these associations are partially mediated by IL-6 at 9 years. These results open a new research vista to the pathophysiology of ADHD and highlight sleep and inflammation as potential preventative targets for ADHD.

Retracted: Computer‐Aided Diagnosis of Children with Cerebral Palsy under Deep Learning Convolutional Neural Network Image Segmentation Model Combined with Three‐Dimensional Cranial Magnetic Resonance Imaging

Retracted: Computer‐Aided Diagnosis of Children with Cerebral Palsy under Deep Learning Convolutional Neural Network Image Segmentation Model Combined with Three‐Dimensional Cranial Magnetic Resonance Imaging

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia.

Lifetime prevalence and temporal trends of incidence of child's mental disorder diagnoses in Catalonia, Spain

IntroductionMost mental disorders have its onset during childhood, but less than one third of affected children seek professional help. The aim of this study is to (1) estimate the lifetime prevalence of mood, anxiety, conduct, and eating disorder diagnoses in 18-year-olds in 2017 and (2) the temporal trends of incidence diagnosis rates in 2009–2017 in children aged 2–18 in Catalonia, Spain. Material and methodsWe used a registry-based cohort including all children aged 2–18 living in Catalonia in 2009–2017, from the Catalan Health Service. Cases were identified with ICD-9 codes. Lifetime prevalence was calculated for 2017, and annual incidence for 2009–2017. Temporal trends were analyzed with multivariate negative binomial regression models. ResultsLifetime prevalence of diagnoses was highest for conduct disorders (5.05%), followed by anxiety (4.37%), mood (3.07%), and eating disorders (2.11%). Median age of diagnosis was 16 years for mood, anxiety and eating disorders, and 15 years for conduct disorders. Comorbidity was present in 20.74% of those diagnosed with a mental disorder. Annual incidence rates for all disorders increased in 2011–2013/2014, and then stabilized. However, incidence rate of anxiety diagnoses in 13–18-year-old children doubled between 2016 and 2017. ConclusionsLifetime prevalence of diagnoses are lower than the expected rates of mental disorders based on interview/survey European studies. Further research is needed into the factors underlying (1) the underdiagnoses of mental disorders in children and (2) the increasing trend of anxiety disorder diagnoses in older children.

Economic and Social Burden of Childhood Cancer in Bangladesh.

Cancer is a major cause of morbidity and mortality worldwide. This study aimed to investigate the scale and nature of the socio-economic burdens that face families of children with pediatric cancer in Bangladesh on a day-to-day basis and the reasons for delays in diagnosis and treatment of the disease. A cross-sectional exploratory study including 54 families in Bangladesh who had children with cancer. A structured questionnaire was used to collect quantitative data, supplemented by open-ended questions to gain in-depth information about specific issues. The majority of children were male (n=39, 72.2%) and aged 6-15 (n=38, 70.4%). Blood cancer (n=20, 37%) and acute lymphocytic leukemia (n=25, 46.3%) were the most common diagnoses. Many parents stopped working after their child's cancer diagnosis (n=28, 51.9%). Many families (n=21, 38.90%) spent more per month (e.g., USD 471-1,179) on their child's treatment than their income. No external financial support was available to cover this high expenditure, putting families under financial pressure. Social issues included fear, lack of cancer awareness, stigma in rural communities, low-quality facilities, inappropriate service provider behavior, poor facility hygiene, and high fees. This study revealed that childhood cancer has a substantial impact on parents' socioeconomic status, and many families face financial, social, and psychological challenges. This highlights the need for urgent collaborative action to address these problems.

Abstract B115: A qualitative study on caregiving social support among Hispanic/Latino parents of childhood cancer survivors in a safety-net hospital

Abstract Background: Parents are the primary caregivers throughout their child's cancer journey. As a result, they may experience a shift in their self and social identity both immediately and in the long term after their child is diagnosed with cancer. Insights into Hispanic/Latino parents of childhood cancer survivors' social support is limited, however. This qualitative study aimed to address the existing gap by describing the social support experiences of Hispanic/Latino parents while caregiving. Methods: Caregivers were recruited from a safety-net hospital in Los Angeles County between July to September 2020. Qualitative semi-structured interviews were conducted with 15 Hispanic/Latino caregivers of childhood cancer survivors (in English and Spanish). The interviews were audio-recorded, professionally transcribed, and analyzed following a reflexive thematic analysis approach. Two coders independently reviewed and coded transcripts and used grounded theory methodology elements (e.g., gerund coding and memo-writing) on Dedoose. Results: Two related themes were identified: the positive influence of social support when available and the challenges associated with lack of social support. All caregivers spoke about the positive influence of social support throughout their caregiving experience (both during and after treatment). Participants' descriptions of the influence of social support included (1) information sharing enhanced knowledge, (2) receiving comfort and encouragement, (3) receiving tangible assistance reducing the caregiving burden, and (4) enhancing caregiving empowerment/self-efficacy. The most common form of social support among these caregivers was tangible assistance, which included financial support for groceries, bills, rent, and essential services such as transportation, work hour flexibility, childcare for other children, and help with household maintenance. Sub-themes regarding the lack of social support included (1) being a single parent and (2) family and friends withdrawing after the child's cancer diagnosis. Single parents described juggling multiple roles, including caring for the patient, maintaining financial support for the entire family, and caring for other children while managing their child's illness. One caregiver expressed that "if there were two of us [during treatment], it would have been easier." Conclusion: When a child is diagnosed with cancer, parents are the primary caregivers and the presence or absence of social support may impact their caregiving experience, particularly for Latino/Hispanic caregivers who are medically underserved. The findings of this study indicate that Hispanic/Latino parents strongly value social support as it enables them to have essential resources that support caregiving for their child and themselves. Efforts should ensure that caregivers are routinely screened to identify their supportive needs. In an effort to optimize support services for caregivers, it needs to be tailored as those with a lack of social support may experience excessive caregiver burden. Citation Format: Carol Ochoa, Randall Y. Chan, Lissette Cervantes, Kimberly A. Miller. A qualitative study on caregiving social support among Hispanic/Latino parents of childhood cancer survivors in a safety-net hospital [abstract]. In: Proceedings of the 15th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2022 Sep 16-19; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr B115.

Understanding the experiences and needs in autism education: A semi-structured interview among Chinese American parents of autistic children.

The diversity of the autistic population seeking professional services and education in the United States has increased. As the diagnosis of autism increases among the Chinese American immigrant population, there is also an increasing need to learn about this population and provide appropriate intervention and education for this group. However, current education and intervention provided for autistic individuals tend to be culturally blind. Gaps were found in our understanding of the cultural context and its relationship with the education mechanisms among Chinese American autistic families. The current study intends to investigate how Chinese American parents perceive the education materials and intervention strategies received by their autistic children as well as their experiences and needs in the education process. Semi-structured interviews were conducted among 10 Chinese American parents (one father and nine mothers) online. They all had children who had a formal diagnosis of autism spectrum disorder and received some intervention or education. Thematic analysis was used to analyse the results. The study suggested that most Chinese American parents were satisfied with the current education materials and intervention strategies provided to their autistic children. Due to cultural-related stigma, parents differ in their perceptions of children's autism diagnosis and characteristics as well as their expectations of children's culturally sensitive education. A theoretical model was created to provide culture-centered interpretation of the interconnected relationship between their pre- and post-immigration contexts and parenting attitudes. Culture plays a critical role in understanding Chinese American parents' experiences, needs, and expectations of culturally sensitive education for their autistic children. Interconnected relationships were found between contexts and parenting attitudes, which were largely influenced by cultural-related stigma. Suggestions and implications were provided for institutions and professionals working with Chinese American families and children. It is critical for them to learn about the experiences, needs, and attitudes of Chinese American parents to provide Chinese American autistic children with more appropriate and culturally sensitive education.

Clinical and Imaging Features of Cystic Fibrosis in Korean Children.

Cystic fibrosis (CF) is a fatal hereditary disorder that primarily affects Caucasians and is rare in Asian populations, including Koreans. Diagnosing CF is often challenging and delayed owing to its rarity and its overlapping features with non-CF diseases, ultimately affecting the patient prognosis. Radiologists can provide initial clues for clinically unsuspected cases and play a crucial role in establishing an early childhood diagnosis. This pictorial essay reviews the clinical and imaging features of genetically confirmed CF in Korean children and increases awareness of this rare disease, thereby facilitating early diagnosis.

Myélogramme : découverte fortuite d’une maladie de Gaucher

AbstractGaucher disease is one of the most common lysosomal storage disorders. The disease may take several clinical forms, ranging from severe symptoms and childhood diagnosis, to paucisymptomatic cases throughout life. In the latter, the diagnosis of Gaucher disease could be challenging. However, it can have an impact on patient’s quality of life, even though effective treatments exist. Here is reported the case of a 59-year-old man, hospitalized for severe acute hepatitis, in whom a Gaucher disease was incidentally discovered on a bone marrow aspiration, performed to explore severe cytopenias.

Early Recognition of Pediatric Strokes in the Emergency Department: Epidemiology, Clinical Presentation, and Factors Impeding Stroke Diagnosis in Children

Purpose: Strokes are challenging to diagnose in pediatric emergency departments (EDs) as level of suspicion is low and atypical presentations are common. We analyzed clinical features, epidemiology and factors of delayed identification in arterial ischemic strokes (AIS) and hemorrhagic strokes (HS). Methods: Single-centre retrospective cohort study of children aged between 29 days and 18 years old diagnosed with stroke between July 2016 to June 2021. Results: Among 36 children, 11 (30.5%) had AIS, 25 (69.4%) had HS. Median age for AIS was 9 years (interquartile range [IQR], 2 to 9) and HS 9 years (IQR, 1 to 11.5) (P=0.715). Focal neurological deficit was seen in 72.7% of AIS and 20% of HS (P=0.006). Only 18.2% of AIS and 52.0% of HS presented within 6 hours of symptoms. Median time from symptom onset to ED presentation was 24 hours (IQR, 12 to 28) for AIS and 7 hours (IQR, 1.8 to 48) for HS (P=0.595). Most (85.6%) arrived by own transport. Median time from presentation to neuroimaging was 7 hours (IQR, 0.9 to 7) for AIS and 4.8 (IQR, 1.3 to 16.8) hours for HS (P=0.376). Eleven patients, 9/25 (36.0%) HS and 2/11 (18.2%) AIS, did not have stroke as differential diagnosis at ED (P=0.714). Common initial diagnoses were viral illness or headaches. On univariate analysis, age &lt;1 (odds ratio [OR], 17.5; 95% confidence interval [CI], 1.2 to 250.4; P=0.035) and absence of focal neurological deficit (OR, 13.091; 95% CI, 1.5 to 117.9; P=0.022) were significant factors for delayed identification. Conclusion: Index of suspicion for pediatric strokes among caregivers and clinicians should be increased. Public awareness campaigns are recommended.

EXPERIENCES OF MOTHERS IN DEALING WITH STIGMA RELATED TO THEIR CHILDREN WITH AUTISM SPECTRUM DISORDER IN THE SAUDI CONTEXT

It remains unknown to what extent mothers of children with Autism Spectrum Disorder (ASD) are stigmatized. Children with ASD require special care to increase their attention and master the necessary motor and behavioural skills. In most society, particularly Middle East and Africa, mothers are largely the care providers for children while their partners concentrate on financial provision. Therefore, mothers experience a lot of challenges and stigma from some partners, family members, and the society. This qualitative phenomenological research examined the experiences of 15 mothers regarding the stigma associated with their children autism in Jeddah, Saudi Arabia. The research examined mothers' beliefs about the positive and negative roles that culture, education, and health institutions play in this regard. Five broad themes emerged from the analysis: mothers' concerns; reactions to the child's diagnosis; difficulties obtaining an ASD diagnosis; difficulty accessing resources; and cultural stigma (people's reactions). The researcher explored the themes and challenges of ASD through literature review and field Research (interviews). Findings showed the need to change structural and societal approaches toward ASD to share the burden among all stakeholders alleviating pressure on mothers. Keywords: children with ASD, cultural stigma, mothers’ stigmatization, mothers experience, society positive roles, society negative roles

Predicting childhood and adolescent attention-deficit/hyperactivity disorder onset: a nationwide deep learning approach

Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous disorder with a high degree of psychiatric and physical comorbidity, which complicates its diagnosis in childhood and adolescence. We analyzed registry data from 238,696 persons born and living in Sweden between 1995 and 1999. Several machine learning techniques were used to assess the ability of registry data to inform the diagnosis of ADHD in childhood and adolescence: logistic regression, random Forest, gradient boosting, XGBoost, penalized logistic regression, deep neural network (DNN), and ensemble models. The best fitting model was the DNN, achieving an area under the receiver operating characteristic curve of 0.75, 95% CI (0.74–0.76) and balanced accuracy of 0.69. At the 0.45 probability threshold, sensitivity was 71.66% and specificity was 65.0%. There was an overall agreement in the feature importance among all models (τ > .5). The top 5 features contributing to classification were having a parent with criminal convictions, male sex, having a relative with ADHD, number of academic subjects failed, and speech/learning disabilities. A DNN model predicting childhood and adolescent ADHD trained exclusively on Swedish register data achieved good discrimination. If replicated and validated in an external sample, and proven to be cost-effective, this model could be used to alert clinicians to individuals who ought to be screened for ADHD and to aid clinicians’ decision-making with the goal of decreasing misdiagnoses. Further research is needed to validate results in different populations and to incorporate new predictors.

High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results

ObjectiveThe purpose was to assess postpartum depression, anxiety, and depression in mothers of children with an inconclusive diagnosis after a positive cystic fibrosis (CF) newborn screening (NBS), known as cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive, inconclusive diagnosis (CFSPID). There is limited information on the prognosis and on the impact of this designation on maternal mental health. MethodsMothers of children with CRMS/CFSPID and CF identified by NBS were recruited from two centers in California. Maternal mental health was assessed using measures of depression, anxiety, and a scripted interview. Descriptive statistics and multivariate logistic regression were applied for data reporting. ResultsA total of 109 mothers were recruited: CF: 51, CRMS/CFSPID: 58. Mothers from both groups showed higher rates of depression and anxiety symptoms than women in the general population. CRMS/CFSPID and CF mothers had no significant difference on their self-reported symptoms of anxiety and depression after adjusting for potential confounders. Mothers equally reported that their child's diagnosis had a negative impact, and that genetic counseling had a positive impact on their emotional health. ConclusionsCF and CRMS/CFSPID diagnoses impact maternal mental health similarly. Uncertain prognosis of CRMS/CFSPID likely contributed to the negative mental health impact. Providers should consider conducting mental health screening for every mother of a child with CRMS/CFSPID, in addition to the recommended mental health screening for mothers of children with CF. Genetic counseling has potential to mitigate emotional stress on these families.

Pediatric Head and Neck Malignancies

Head and neck masses represents a common clinical entity in pediatric age group. In general, these masses are classified in to developmental, inflammatory, or neoplastic. Having a working knowledge of these lesions in head and neck region &amp; conducting a thorough history &amp; physical examinations generally enable the clinician to simplify an appropriate workup and establish a diagnosis. The differential diagnosis is wide-ranging, and expeditiously distinguishing the benign from malignant masses is difficult for instituting a timely multidisciplinary approach to the management of malignancy. Malignancy of the head and neck account for approximately 5% of all childhood carcinomas. This review aims to discuss the most common head and neck malignancies in childhood. The evidence for the diagnosis and management of childhood, head and neck malignancy is summarized. The rarity of these tumors are inevitably results in a paucity of high-level evidence to guide the treatment. Keywords: Children, Head and neck malignancy, Lymphoma, Malignancy, Rhabdomyosarcoma

A cross-cultural comparison of a measure of parent perceptions among families of children with autism in Vietnam.

Raising an autistic child can affect many aspects of families' lives. Parents are responsible for many decisions, from initiating evaluation to selecting and implementing treatments. How parents conceptualize the course and nature of their child's diagnosis influences these processes and parents' own well-being. Parents' perceptions about their children's autism are also affected by cultural contexts and understanding of autism. The Illness Perception Questionnaire-Revised (IPQ-R) is widely used to study cognitions in chronic health research and has been adapted and validated to measure parents' perceptions and beliefs about their children's ASD (IPQ-R-ASD). However, such studies are mostly conducted in high-income countries (HICs) with western, individualistic cultural values (e.g. United States, Canada). Therefore, it is unclear whether the IPQ-R-ASD is a useful instrument in understanding parents' perceptions of autism in Vietnam, a lower- and middle-income country (LMIC) with collectivistic Asian cultural values. These differences suggest that parents in Vietnam may have cognitive representations of their children's autism that differ from those of parents living in HIC, western countries. The purpose of this study was to examine the usability of the translated Vietnamese IPQ-R-ASD that may, ultimately, help explore Vietnamese parents' autism perceptions. While the study's result indicated the usability of the translated measure in Vietnam, when interpreted with Vietnamese norms, results also highlighted notable differences between Vietnamese and North American parents' perceptions of autism that warrant further research.

Association Between Childhood Exposure to Pet Cats and Later Diagnosis of Schizophrenia: A Case-Control Study in Saudi Arabia.

There is an increasing number of reports suggesting an effect of adverse environmental factors during vulnerable periods of prenatal and perinatal development in the etiology of schizophrenia. Cat-transmitted infections, especially Toxoplasma gondii, are possible risk factors for the later development of schizophrenia. We conducted a case-control study to examine childhood cat ownership in 78 patients with schizophrenia (cases), 78 outpatients with depression and anxiety disorders (control group one), and 78 outpatients with no psychiatric history (control group two). Cat ownership before the age of 13 was reported by 52.6%, 44.9%, and 24.4% of patients in cases, control group one, and control group two, respectively. Compared with non-psychiatric patients, patients with schizophrenia were 3.4 times more likely to report owning cats in their childhood (odds ratio (OR)=3.441; p=0.000; 95% confidence interval (CI)=1.740-6.804). Compared with both control groups, the likelihood of owning a cat as a child was 2.1 times more among cases (OR=2.093; p=0.008; 95% CI=1.203-3.640). Age, female gender, and family history appeared to be positively associated with cat ownership and schizophrenia. This study supports the evidence of a relationship between childhood exposure to pet cats and the later development of schizophrenia. Further in-depth research is needed to clarify the relationship between exposure to pet catsin childhood and later diagnosis of schizophrenia, adjusting for potential confounders.

Psychosocial functioning of parents of Dutch long-term survivors of childhood cancer.

To describe health-related quality of life (HRQoL), post-traumatic stress and post-traumatic growth of parents of long-term survivors of childhood cancer (CCS) and study associated factors. Parents of survivors of the Dutch Childhood Cancer Survivor Study LATER cohort below 30years and diagnosed 1986-2001 were invited to complete the TNO-AZL Questionnaire for Adult's HRQoL (e.g., sleep and aggressive emotions), Self-Rating Scale for Post-traumatic Stress Disorder, Post-traumatic Growth Inventory, and Illness Cognition Questionnaire. HRQoL domain scores were compared to references using Mann-Whitney U tests. Correlations between post-traumatic stress, growth and HRQoL were evaluated. Medical characteristics of their child and illness cognitions were studied as associated factors of HRQOL, post-traumatic stress and growth. p<0.05 was considered statistically significant. Parents (n=661 of n=448 survivors, 56% female, mean time since child's diagnosis: 21.3 [SD: 3.3] years) reported better HRQoL in social functioning and aggressive emotions than references (r=.08-0.17). Mothers additionally reported better HRQoL in pain, daily activities, sexuality, vitality, positive and depressive emotions (r=.07-0.14). Post-traumatic stress was symptomatic in 3%, and associated with worse HRQoL (r=-0.27-0.48). Post-traumatic growth was positively associated to post-traumatic stress and better HRQoL (r=0.09-0.12). Cancer recurrence was associated to better HRQoL (β=0.37-0.46). Acceptance illness cognitions were associated to better (β=0.12-0.25), and helplessness to worse outcomes (β=0.14-0.38). HRQoL of parents of young adult survivors of CCS is comparable to references or slightly better. Only a small proportion reports symptomatic post-traumatic stress. Improving acceptance and reducing feelings of helplessness may provide treatment targets for parents with psychosocial problems.

Understanding the types of social support that can mitigate parental burnout in mothers of children with medical complexity.

Parental burnout is characterized by exhaustion, emotional distancing and a sense of ineffectiveness in the parenting role. Parents of children with medical complexity (CMC) face various challenges due to their child's diagnosis. Specifically, mothers of CMC experience more parental burnout symptoms than mothers of children without healthcare needs. Multiple studies have identified interventions for mitigating caregiver stress in parents of CMC. However, social support is of interest to organizations that provide services geared towards the family unit's social-emotional wellbeing. This article aims to explore the role of social support in mitigating parental burnout in mothers of CMC. It also aims to offer guidance to community-based organizations, practitioners, and mental health advocates on how to best allocate resources to provide social support opportunities for mothers of CMC. A qualitative case study approach was utilized to explore the role of social support in mitigating parental burnout in mothers of CMC. A sample of five mothers of CMC participated in an interview regarding the role of social support in mitigating parental burnout. Within-case analysis was used to identify overarching themes, followed by cross-case analysis to determine similarities among participants' experience. Three salient themes emerged from the participants' interviews: isolation, types of social support, and the benefits of helping others. Types of social support included four subcategories: church support, practical support, mental health support and respite/childcare support. Results of the study indicated that active engagement in specific types of social support was critical in mitigating parental burnout and feelings of isolation in mothers of CMC. Furthermore, results revealed that mothers of CMC experience positive benefits from helping others. These findings encourage community-based organizations to focus on maximizing partnerships with churches and other non-profit organizations to develop strategic programmes for mitigating parental burnout in mothers of CMC.

Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies

To understand parents' of children with developmental and epileptic encephalopathies needs and preferences for psychological resources. Using a person-based approach, a multidisciplinary panel of clinician and researchers (n = 9) hosted a priority-setting workshop to 1) understand parents' needs and preferences for psychological resources and 2) to develop ‘guiding principles’ to inform a future suite of psychological resources. The multidisciplinary panel analysed the parent priority-setting workshop data, using a combination of thematic and lexical analysis. Thematic analysis identified six key domains wherein parents (n = 8) prioritised a need for psychological resources to support adaptation to their child's genetic DEE diagnosis. Lexical analysis revealed that connection to diagnosis-specific resources provided a pathway to promote enhanced psychological adaptation, by reducing social isolation and reorienting parents towards feelings of hope. Combination of both analyses generated six thematic informed ‘guiding principles’. Codesigned psychological resources may help parents to cope with the unique and complex interplay of stressors associated with their child's DEE diagnosis and treatment. Our ‘guiding principles’ will be translated to inform a future suite of tailored psychological resources. This study demonstrates an innovative codesign approach to inform tailored psychological resources for families of children with rare genetic conditions.