Family Counseling Research Articles

Demographics, Symptoms, Psychotropic Use, and Caregiver Distress in Patients With Early vs Late Onset Dementia

BackgroundUnderstanding experiences and challenges faced by persons living with Early-Onset Dementia (EOD) compared to individuals diagnosed with Late-Onset Dementia (LOD) is important for the development of targeted interventions. ObjectiveDescribe differences in sociodemographic, neuropsychiatric behavioral symptoms, caregiver characteristics, and psychotropic use. Design, Setting, ParticipantsCross-sectional, retrospective study including 908 UCLA Alzheimer's Dementia Care Program participants (177 with EOD and 731 with LOD). MeasurementsOnset of dementia was determined using age at program enrollment, with EOD defined as age <65 years and LOD defined as age >80 years. Sociodemographic and clinical characteristics were measured once at enrollment. Behavioral symptoms were measured using the Neuropsychiatric Inventory Questionnaire (NPI-Q) severity score and caregiver distress was measured using the NPI-Q distress score. Medications included antipsychotic, antidepressant, benzodiazepines and other hypnotics, antiepileptics, and dementia medications. ResultsEOD compared to LOD participants were more likely men, college graduates, married, live alone, and have fewer comorbidities. EOD caregivers were more often spouses (56% vs 26%, p <0.01), whereas LOD caregivers were more often children (57% vs 10%, p <0.01). EOD was associated with lower odds of being above the median (worse) NPI-Q severity (adjusted odds ratio [aOR], 0.58; 95% CI 0.35–0.96) and NPI-Q distress scores (aOR, 0.53; 95% CI 0.31–0.88). Psychotropic use did not differ between groups though symptoms were greater for LOD compared to EOD. ConclusionPersons with EOD compared to LOD had sociodemographic differences, less health conditions, and fewer neuropsychiatric symptoms. Future policies could prioritize counseling for EOD patients and families, along with programs to support spousal caregivers of persons with EOD.

NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review.

Pseudohypoaldosteronism type 1A (PHA1A) is caused by haploinsufficiency of the mineralocorticoid receptor (MR). Heterozygous small insertions/deletions, transitions, and/or transversions within NR3C2 comprise the majority (85%-90%) of pathogenic copy number variants. Structural chromosomal abnormalities, contiguous gene deletion syndromes, and microdeletions are infrequent. We describe a neonate with PHA1A due to a novel NR3C2 microdeletion involving exons 1-2. Literature review identified 39 individuals with PHA1A due to NR3C2 microdeletions. Transmission modality, variant description(s), testing method(s), exon(s) deleted, and affected functional domain(s) were characterized. In total, 40 individuals with NR3C2 microdeletions were described: 19 involved contiguous exons encoding a single MR domain; 21 involved contiguous exons encoding multiple MR domains. Transmission modality frequency was familial (65%), de novo (20%), or unknown (15%). Sequencing (Sanger or short-read next-generation) failed to detect microdeletions in 100% of tested individuals (n = 38). All were detected using deletion/duplication testing modalities. In 2 individuals, only microarray-based testing was performed; microdeletions were detected in both cases. Initial testing for PHA1A should rely on sequencing to detect the most common genetic alterations. Deletion/duplication analysis should be performed when initial testing is nondiagnostic. Most NR3C2 microdeletions are parentally transmitted, thus highlighting the importance of familial genetic testing and counseling.

Sexual Behaviors in Iranian Working Children and the Correlated Risk Factors: Result of the Large-Scale Rapid Assessment and Response (RAR) Survey

This study aimed to investigate the sexual behaviors among working children and the associated factors. This cross-sectional study was conducted on a sample of 1937 working children in the 10–18 age range in 15 provincial capitals in 2019–20 (Feb–May); the Response rate was 94.9%. Univariate and multivariable logistic regression was used to examine the variable of sexual behaviors. Adjusted odds ratios (AOR) and 95% confidence intervals (CI) are reported. The prevalence of sexual behaviors in working children was 4.2%. The results showed a significant difference between those who reported sexual behaviors and those who did not in terms of age, identity document (ID), running away from home, alcohol use, and substance use. There was a statistically significant relationship between fathers’ unemployment and sexual behaviors among working children. Furthermore, we found that having divorced parents could increase the odds of sexual behaviors by 3.74 times. The findings showed that related welfare and support organizations should design and implement effective and continuous training and interventions to raise awareness and reduce the prevalence of high-risk sexual behaviors in working children. They should also provide family counseling and promote parental supervision of children.

Preoperative risk score for mortality within 3 years of visceral segment fenestrated endovascular aortic repair

ObjectiveThe purpose of this study was to create a risk score for the event of mortality within 3 years of complex fenestrated visceral segment endovascular aortic repair utilizing variables existing at the time of preoperative presentation. MethodsAfter exclusions, 1916 patients were identified in the Vascular Quality Initiative who were included in the analysis. The first step in development of the risk score was univariable analysis for the primary outcome of mortality within 3 years of surgery. χ2 analysis was performed for categorical variables, and comparison of means with independent Student t-test was performed for ordinal variables. Variables that achieved a univariable P value less than 0.1 were then placed into Cox regression multivariable time dependent analysis for the development of mortality within 3 years. Variables that achieved a multivariable significance of less than 0.1 were utilized for the risk score, with point weighting based on the beta-coefficient. Variables with a beta coefficient of 0.25 to 0.49 were assigned 1 point, 0.5 to 0.74 2 points, 0.75 to 0.99 3 points, and 1.0 to 1.25 4 points. A cumulative score for each patient was then summed, the percentage of patients at each score experiencing mortality within 3 weeks was then calculated, and a comparison of score outcomes was conducted with binary logistic regression. Area under the curve analysis was performed. ResultsThe primary outcome of mortality within 3 years of surgery occurred in 12.8% of patients (245/1916). The mean age for the study population was 73.35 years (standard deviation [SD], 8.26 years). The mean maximal abdominal aortic aneurysm (AAA) diameter was 60.43 mm (SD, 10.52 mm). The mean number of visceral vessels stented was 3.3 (SD, 0.76). Variables present at the time of surgery that were included in the risk score were: hemodialysis (3 points); age >87, chronic obstructive pulmonary disease, hypertension, AAA diameter >77 mm (all 2 points); and body mass index <20 kg/m2, female sex, congestive heart failure, active smoking, chronic renal insufficiency, age 80 to 87 years, and AAA diameter 67 to 77 mm (all 1 point). BMI >30 kg/m2 (mean, 34.46 kg/m2) and age <67 years were protective (−1 point). Testing the model resulted in an area under the curve of 0.706. Hosmer and Lemeshow goodness of fit test for logistic regression utilizing the 15 different risk score total groups revealed a model predictive accuracy of 87.3%. Significant escalations in 3-year mortality were noted to occur at scores of 6 and greater. Mean AAA diameter was significantly larger for patients who had higher risk scores (P < .001). ConclusionsA novel risk score for mortality within 3 years of fenestrated visceral segment aortic endograft has been developed that has excellent accuracy in predicting which patients will survive and derive the strongest benefit from intervention. This facilitates risk-benefit analysis and counseling of patients and families with realistic long-term expectations. This potentially enhances patient-centered decision-making.

Recurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism

BackgroundPaired-like Homeobox 2B (PHOX2B) is considered the causative gene of Congenital Central Hypoventilation Syndrome (CCHS), a dominant genetic disorder characterized by impaired central respiratory control and subsequent hypoventilation during sleep. MethodsHerein, we present a family with recurrent severe CCHS. The potential causative genetic variant was confirmed through Whole-Exome Sequencing (WES), Sanger sequencing, and droplet digital PCR (ddPCR). Furthermore, prenatal diagnosis was performed on the proband's mother at 20 weeks of her fourth pregnancy upon request. ResultsThe proband and her brother were both carriers of the PHOX2B polyalanine expansion variant: c.744_758dupCGCGGCAGCGGCGGCGGCGGC. Sanger sequencing revealed that the proband's father had a small variant peak in the gene position, implying potential somatic mosaicism. In addition, ddPCR results showed that the proband's father had germline mosaicism, with a mosaicism proportion of 14.3%. Notably, the detect p.(Ala241[26]) variant was not detected in the fetus. ConclusionsThese findings have important implications for improving genetic counseling of CCHS families as they suggest that even parents without CCHS symptoms may have somatic chimerism, necessitating careful genetic counseling and consideration of prenatal testing for subsequent pregnancies.

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia

BackgroundNeuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population. MethodsA retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022. Clinical, radiological, and neurophysiological data as well as genetic diagnoses were reviewed. ResultsCLN6 was the predominant type, accounting for 45% of cases in 25 families. The most common initial symptoms were speech delay (53%), cognitive decline (50%) and/or gait abnormalities (48%), and seizure (40%). Behavioral symptomatology was observed in 20%, whereas visual impairment was less frequently (9.3%) encountered. Diffuse cerebral and cerebellar atrophy was the predominant finding on brain magnetic resonance imaging. Electroencephalography generally revealed background slowing in all patients with generalized epileptiform discharges in 60%. The most common genotype detected was the p.Ser265del variant found in 36% (20 of 55 families). The most rapidly progressive subtypes were CLN2 and CLN6. Two patients with each died at age five years. The earliest age at which a patient was nonambulatory was two years in a patient with CLN14. ConclusionsThis is the largest molecularly confirmed NCL cohort study from Saudi Arabia. Characterizing the natural history of specific NLC types can increase understanding of the underlying pathophysiology and distinctive genotype-phenotype characteristics, facilitating early diagnosis and treatment initiation as well as genetic counseling for families.

Counselor Educator- and Student-Produced Podcasts: Technical Considerations and Educational Applications for Marriage and Family Counseling Courses

Podcasts continue to grow in popularity and availability. Recent advances in podcast mobile apps and recording technology have simplified the process for producing high quality podcast content. Consequently, the popularity of podcasts and the ease with which they can now be produced offer counselor educators and students a breadth of opportunities for recording and integrating their own podcasts within marriage and family counseling courses. This article provides an overview of basic podcast technology and recording methods, proposes a variety of educational applications, and offers suggestions for future research.

An Evaluation on the Construction and Sustainability of Family Counseling Specifically for Domestic Problems

Aile, çiftlerin bir araya gelerek birbirlerinin ve toplumun ihtiyaçlarını karşıladığı maddi, manevi ve sosyal temelleri bulunan bir kurumdur. Bu kurumun sağlıklı bir şekilde sürdürülmesi için belli ölçüde şartlar ve çabalar gerekmektedir. Aile, evlilik öncesi, sonrası, çocuk yetiştirme süreci başta olmak üzere birçok aşama ile oluştuğu için bu süreçlerde birçok sorun yaşanmakta ve bu sorunların çözümlenmesinde çiftler kimi zaman yeterli olamamaktadır. Bu durumda geçmişten günümüze kadar, aracı, hakem, danışman gibi farklı isimlerle anılsa da üçüncü bir bakış ve müdahaleye ihtiyaç duyulmaktadır. Günümüzde bu ihtiyacı karşılayan sisteme aile danışmanlığı ismi verilmektedir. Bu çalışmada aile danışmanlığının aile içi sorunlara müdahale süreci ve aile yapılarında görülen temel sorunların ele alınması amaçlanmaktadır. Çalışmada, kuramsal olarak aile danışmanlığında kullanılan tekniklere değinilmiştir. Kuramsal pratikler, aile danışmanlığı alanında kullanılan çeşitli kuramların temellerini ve nasıl uygulandıklarını anlamak için kapsamlı bir kaynak sunmaktadır. Özellikle, aile dinamiklerini anlamak ve çözümlemek için kullanılan yöntemler, terapistlerin ve danışanların problemleri nasıl ele aldıkları ve çözüm yolları aradıkları konusunda bilgi vermektedir. Aynı zamanda aileye dair sosyal problemlerin kapsamı ele alınmıştır. Değerlendirme kısmında aile danışmanlığının problemleri çözme konusundaki katkısı değerlendirilmiştir. Bu süreçte, evlenme süreci, boşanma, sağlıklı iletişim ve aile yönetimi konusunda değerlendirmelere yer verilmiştir. Danışmanlık sürecinde ise aile içi ilişkiler, iletişim sorunları, bireysel ve grup terapisi uygulamaları gibi konular yer almaktadır. Aile danışmanı, ailelerin karşılaştığı çatışma, iletişim sorunları, rol anlaşmazlıkları gibi problemleri çözmeye odaklanır. Aile Danışmanlığı, bireylerin ve ailelerin daha sağlıklı ilişkiler kurmasına, çatışmaları etkili bir şekilde yönetmesine ve bireysel potansiyellerini maksimize etmesine yardımcı olmayı amaçlar. Mevcut probleme yönelik benimsenen her bir yaklaşım, aile yapısını, bireyler arası ilişkileri ve aile içi işlevselliği destekleyici özel teknikler ve müdahaleler sunar.

Communication patterns and marital satisfaction: A review of English language discourse in family counseling

Effective communication lies at the heart of marital satisfaction, serving as a pivotal determinant in the success or failure of intimate relationships. This review delves into an in-depth review of English language discourse within the realm of family counseling, focusing on the intricate interplay between communication patterns and marital satisfaction. Through a comprehensive analysis of existing literature, this review synthesizes the multifaceted dynamics of communication within marital relationships. It explores the diverse array of communication patterns exhibited by couples, ranging from constructive dialogues characterized by openness, empathy, and active listening, to maladaptive behaviors such as criticism, defensiveness, contempt, and stonewalling. The impact of these communication patterns on marital satisfaction is scrutinized, elucidating how they influence emotional intimacy, conflict resolution, and overall relationship quality. Moreover, this review highlights the role of family counseling as a crucial intervention in addressing communication challenges within marital dyads. By employing evidence-based techniques such as cognitive-behavioral therapy, emotion-focused therapy, and systemic approaches, counselors aim to facilitate healthy communication patterns and enhance marital satisfaction. The efficacy of various therapeutic strategies in fostering positive relational outcomes is examined, shedding light on the nuances of intervention implementation and client responsiveness. Furthermore, cultural considerations within English language discourse are explored, recognizing the diverse cultural backgrounds and communication styles of couples seeking counseling services. Cultural competence emerges as an essential component in understanding and navigating communication dynamics, ensuring that interventions are tailored to the unique needs and values of diverse clientele. This review underscores the pivotal role of communication patterns in shaping marital satisfaction, underscoring the significance of effective communication skills in fostering resilient and fulfilling relationships. By synthesizing empirical research and clinical insights, this review contributes to a deeper understanding of the complex interplay between communication dynamics and marital well-being, thereby informing future research directions and clinical practice in the field of family counseling.

Changes in health-related quality of life and sleep habits after a 6-month non-randomised cluster-controlled trial among children with overweight or obesity

Being overweight or obese can have severe negative psychological impacts and reduce health-related functioning. To improve health-related quality of life (HRQoL) and sleep habits for children with overweight or obesity, it is important to design and implement effective interventions. The aim of this study was to evaluate the effects of a 6-month family-based lifestyle intervention on HRQoL and sleep habits in Norwegian children with overweight or obesity in a primary-care setting. This 6-month, non-randomised, cluster-controlled trial included Norwegian children aged 5–13 years with overweight or obesity and their parents. A questionnaire was filled out by the parents. A total of 33 and 52 children in the control group and 41 and 78 children in the intervention group answered the HRQoL and sleep habits questions, respectively, and were included. The intervention group received individual family counselling and participated in physical activity groups and nutrition courses. The Children’s Sleep Habits Questionnaire (CSHQ) and Kidscreen-10 index were used to assess sleep habits and HRQoL. At baseline, the mean average scores for HRQoL were 50.0 [standard deviation (SD) 8.1] for the intervention group and 49.0 (SD 10.1) for the control group. For sleep habits at baseline, the mean average scores were 45.2 (SD 11.8) for the intervention group and 46.0 (SD 11.9) for the control group. No significant changes in HRQoL and sleep habits after the intervention were revealed. Overall, the family-based lifestyle intervention targeting overweight and obese children in a primary-care setting showed no significant effect on HRQoL or sleep quality.

Hubungan Dukungan Sosial dengan Kepercayaan Diri Pengguna Narkoba di Klinik Pratama BNNP Sumatera Barat

This research is motivated by the phenomenon of drug users who are undergoing the rehabilitation process. Those who use drugs will be considered criminals, with these very negative impacts resulting in changes in their social environment, this is what causes a low sense of self-confidence in drug users. This research aims to describe: (1) social support, (2) self-confidence of drug users and, (3) examine the relationship between social support and self-confidence of drug users. This type of research uses a quantitative approach with a research method, namely a correlational descriptive method. The population of this study was 31 rehabilitation patients at the West Sumatra BNNP pratama clinic with a sample size of 31 patients using a total sampling technique. Based on research findings, namely, (1) overall social support is in the high category, (2) overall self-confidence of drug users is in the high category, (3) there is a significant positive relationship in the medium category (0.579) between social support and user self-confidence drugs at the West Sumatra BNNP pratama clinic. The implications for counseling services are in the form of individual counseling services, then group guidance services and family counseling.

Looking Back and Venturing Forth: Perspectives in Marriage and Family Counseling From a Content Analysis of The Family Journal

The Family Journal is a quarterly peer-reviewed professional journal that has undergone substantial changes in the last three years. A content analysis of the first 13 years of the journal (Southern, 2006) provided a context for understanding changes over time. The preliminary results of a pilot content analysis for 2023 (Volume 31, Issues 1–4) identified types and subtypes of published articles as well as categories, subcategories, and domains. The pilot testing refined categories and raised important issues for the ongoing content analysis. One of the major challenges involves the proliferation of international manuscripts and quantitative research designs. The mission of the journal is to balance theory, research, and practice for the predominantly clinical readership. The review concludes with some guiding questions for ongoing research and practice in marriage and family counseling.

Cognitive Behavioral Counseling Vs Family Counseling: Which Motivational Interviewing Is More Effective to Reduce Game Addiction in Adolescents?

&#x0D; &#x0D; &#x0D; &#x0D; Game addiction is a phenomenon that can interfere with adolescents' social relationships, leading to emotional, behavioral or mental disorders. The COVID-19 pandemic has contributed to an increase in game addiction behavior, largely due to feelings of loneliness. The consequences faced by adolescents as a result of game addiction can significantly impact their personal, social, learning, and career aspects. Therefore, it is crucial to employ appropriate counseling techniques to effectively reduce this addiction. Empirical and practical evidence showed that Family Counseling and Motivational Interviewing Techniques were effective in addressing game addiction. This study aimed to show the effectiveness of the Family Counseling Motivational Interviewing (FCMI) technique in reducing game addiction, as compared to Cognitive Behavioral Counseling (CBC). A quantitative approach was utilized, with a randomized controlled trial as the study design. The hypothesis was analyzed using the Wilcoxon and Mann-Whitney Tests. A total of 90 adult students participated in this study and were classified into FCMI as the experimental group and the CBC as the control. The results showed that the FCMI technique was more effective in reducing game addiction than CBC. Significant improvements were also observed in the aspects of tolerance and mood modification, which experienced a notable decrease.&#x0D; &#x0D; &#x0D; &#x0D;

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.

Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects. Here, we report five novel patients from unrelated families with PUF60-related disorders exhibiting novel genetic and clinical findings with three truncating variants, one splice-site variant with likely reduced protein expression, and one missense variant. Protein modeling of the patient's missense variant in the PUF60 AlphaFold structure revealed a loss of polar bonds to the surrounding residues. Neurodevelopmental disorders were present in all patients, with variability in speech, motor, cognitive, social-emotional and behavioral features. Novel phenotypic expansions included movement disorders as well as immunological findings with recurrent respiratory, urinary and ear infections, atopic diseases, and skin abnormalities. We discuss the role of PUF60 in immunity with and without infection based on recent organismic and cellular studies. As our five patients showed less-severe phenotypes than classical Verheij syndrome, particularly with the absence of key features such as coloboma or palatal abnormalities, we propose a reclassification as PUF60-related neurodevelopmental disorders with multi-system involvement. These findings will aid in the genetic counseling of patients and families.

Support Seeking Tactics Used by Family Caregivers of Relatives With Dementia: Influences on Network Support and Caregiving Burden

Social support for family members who care for a relative with dementia can mitigate caregiving burden. Yet, in that evidence points to these caretakers as often experiencing isolation and loneliness while providing dementia-related care, a need remains to better understand factors contributing to their adverse support experiences. Accordingly, this study applies sensitive interaction systems theory (SIST) to examine how caregivers’ direct versus indirect support-seeking behaviors relate to the quality of support responses they receive from a member of their social network. Associations between network support responses and caregiving burden are also investigated. Family caregivers ( n = 411) completed a Qualtrics survey. Results from path analysis indicated that family caregivers’ direct support seeking was related to supportive responses from a network member, while their indirect tactics to gain assistance predicted unsupportive reactions. Supportive and unsupportive network responses to family caregivers' support seeking were both related to greater caregiving burden. Additionally, indirect support seeking predicted greater caregiving burden, while this relationship was also partially mediated by unsupportive network responses. Findings highlight the utility of marriage and family counseling efforts to help family caregivers identify and practice strategies for communicating their varying dementia-care support needs to others while also managing unconstructive responses shared within their social network. Caregivers may additionally benefit from counseling to help them to develop coping skills beyond support seeking.

STUDI LITERATUR : SOLUTION-FOCUSED BRIEFING COUNSELLING (SFBC) DALAM MENINGKATKAN INTERAKSI DAN KOMUNIKASI INDIVIDU

This research aims to study hypothetically the application of Solution-Focused Brief Counseling (SFBC) in families and several examples of solution-focused family counseling cases. The research method used is a literature review which uses various written sources such as journals and articles that are relevant to the study in this research. The focus of the research literature review is articles published in national journals regarding aspects of research titles, research methods and research results. The researcher chose a literature review because the researcher wanted to see a general overview of research on the application of Solution-Focused Brief Counseling (SFBC) in families and several case examples of solution-focused family counseling..

ASSESSING PATIENT KNOWLEDGE AND COMPLIANCE WITH ANTIHYPERTENSIVE TREATMENT IN TECHIMAN MUNICIPALITY

The study focused on hypertension (HPT), commonly known as high blood pressure, which is defined as persistently elevated blood pressure levels in adults. It aimed to assess the knowledge and compliance of hypertensive patients with their antihypertensive treatment in the Techiman Municipality. The study employed a hospital-based cross-sectional quantitative descriptive approachusing convenience sampling with a sample size of 234 adult hypertensive patients as respondents. The data was collected using structured questionnaires. The findings indicated that most patients believed that hypertension was caused by an increase in blood pressure. Furthermore, most of them were aware of practices that could elevate blood pressure, such as excessive salt intake and consuming fatty foods. Interestingly, some patients attributed hypertension to factors like witchcraft or financial constraints. The findings called for several key recommendations: Firstly, conduct larger-scale research to delve deeper into factors driving antihypertensive non-compliance. Strengthen health promotion initiatives, including advocating healthy lifestyles, patient education, family counseling, and robust social support networks, to boost treatment adherence and well-being. Implement compliance monitoring studies to pinpoint noncompliant patients more accurately and potentially reduce healthcare costs. Ensure convenient access and sufficient availability of antihypertensive medications. Lastly, prioritize patient education to dispel misconceptions about hypertension, especially beliefs related to witchcraft. In sum, these recommendations offer promise for improving hypertension management in Techiman Municipality.

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.

Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear. To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients. Retrospective observational nationwide study. Narrative review of literature and variant class reassessment. We included all adult patients with class 3/4/5 CDKN1B variants identified by the laboratories from the French Oncogenetic Network on Neuroendocrine Tumors network between 2015 and 2022 through germline genetic testing for MEN1 suspicion. After class reassessment, we compared the phenotype of symptomatic patients with class 4/5 CDKN1B variants (ie, with genetically confirmed MEN4 diagnosis) in our series and in literature with 66 matched MEN1 patients from the UMD-MEN1 database. From 5600 MEN1-suspected patients analyzed, 4 with class 4/5 CDKN1B variant were found (0.07%). They presented with multiple duodenal NET, primary hyperparathyroidism (PHPT) and adrenal nodule, isolated PHPT, PHPT, and pancreatic neuroendocrine tumor. We listed 29 patients with CDKN1B class 4/5 variants from the literature. Compared with matched MEN1 patients, MEN4 patients presented lower NET incidence and older age at PHPT diagnosis. The prevalence of MEN4 is low. PHPT and pituitary adenoma represent the main associated lesions, NETs are rare. Our results suggest a milder and later phenotype than in MEN1. Our observations will help to improve genetic counseling and management of MEN4 families.

Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

BackgroundNiemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegaly. Herein, we identified a novel compound heterozygous mutations of the NPC1 gene in a Chinese pedigree.Case presentationThis paper describes an 11-year-old boy with aggravated walking instability and slurring of speech who presented as Niemann-Pick Disease type C. He had the maternally inherited c.3452 C > T (p. Ala1151Val) mutation and the paternally inherited c.3557G > A (p. Arg1186His) mutation using next-generation sequencing. The c.3452 C > T (p. Ala1151Val) mutation has not previously been reported.ConclusionsThis study predicted that the c.3452 C > T (p. Ala1151Val) mutation is pathogenic. This data enriches the NPC1 gene variation spectrum and provides a basis for familial genetic counseling and prenatal diagnosis.

Complementary and alternative medicine (CAM) is frequently used by parents for the treatment of functional constipation in children.

Complementary and alternative medicine (CAM) has gained increasing attention as a supportive treatment for chronic diseases such as epilepsy, migraine, autism, and cancer in children. This study aimed to determine the frequency, motivation, and outcomes of CAM in children with functional constipation. From January 2018 till September 2019, parents of patients (0-18 years) who were treated for functional constipation (ROME IV-criteria) at our colorectal center were asked to complete a questionnaire on the utilization of CAM. Demographic data and clinical assessments were documented and analyzed for patients with and without CAM treatment. A total of 115 patients were included (mean age: 5.1 years; 49% males), of whom 29 (25%) used CAM as an alternative (4/29,14%) or in addition to conventional therapy (CT), including osteopathy (48%), homeopathy (45%), and natural/herbal remedies (17%). The main reason parents reported for the use of CAM was the urge to leave no treatment option unattempted (76%). Multivariate analysis also identified persistent constipation under CT (72%), adverse effects of CT (24%), and parental use of CAM themselves (83%) as independent variables associated with CAM use. Parents reported positive changes in stool frequency (38%) and fecal incontinence (21%) with CAM. The vast majority (93%) plan to use CAM in the future, and even non-CAM users showed high interest (60%). One in four children with functional constipation receives CAM. Significant improvement in stool frequency and continence is missing in the majority. However, parental interest in CAM remains high. Physicians should be aware of CAM when counseling families for functional constipation in children.