Need For Counseling Research Articles

Prevalence and risk factors of vitiligo in Saudi Arabia: a systematic review

The purpose of this study was to determine the risk factors and prevalence of vitiligo in the Saudi population. A comprehensive computerized search of pertinent databases was carried out to find research that satisfied the requirements of inclusion. To locate relevant studies, PubMed, SCOPUS, Science Direct, Cochrane Library, and Web of Science were all searched. The prevalence of vitiligo among the Saudi population ranged from 0% among school children to 7%. The results indicated that genetic factors, such as family history and parental consanguinity, contribute significantly to the vitiligo prevalence in Saudi Arabia. Localized vitiligo was the most common form, with stress identified as a key trigger for disease progression. Consanguinity in marriages further increased disease prevalence, highlighting the need for genetic counseling and public awareness programs to reduce the impact of vitiligo. This study emphasized the contribution of stress and genetic predisposition to the development of vitiligo in the Saudi population. By focusing on these factors, healthcare providers can improve prevention and management strategies through genetic counseling, stress management, and community education. However, future research with more extensive population data and deeper exploration of various risk factors is essential to refine these strategies and enhance patient care.

Impact of inflammatory bowel disease on women's reproductive life: a questionnaire-based study.

Inflammatory bowel diseases (IBDs) have a peak incidence between the second and fourth decades of life and can affect women's reproductive life. Our study aimed to assess the impact of IBD on the reproductive life of female patients with this condition. Cross-sectional study. Women with IBD followed at our IBD Unit and a group of healthy controls were enrolled. Data on reproductive life were collected using a dedicated questionnaire. The study included 457 women, of whom 228 had IBD, and 229 age-matched healthy controls. No differences were found in the use of contraceptives, infertility, and endometriosis. The risk of spontaneous and voluntary abortions was significantly higher in IBD patients than in healthy controls [odds ratio (OR) 2 and 3.62, respectively]. The risk of obstetrical complications in the IBD population was more than six times higher in patients who experienced disease reactivations during pregnancy than in those with persistent remission [OR 6.9, 95% confidence interval (CI) 1.51-31.28]. Finally, we found that the chances of breastfeeding were 66% lower in patients with IBD than in controls (OR 0.44, 95% CI 0.22-0.91). Our study underlines the negative impact of IBD on women's reproductive life, supporting the need for proactive preconception counseling.

The Need of Online Counselling to Enhance Mental Health among Students in Higher Learning Institutions in Tanzania

This study aimed to explore the need of online counselling to enhance mental health among students in higher learning institutions. The study employed a qualitative research approach in which 40 participants were involved. These were purposefully selected from two higher learning institutions in Tanzania - 30 were students and 10 were counsellors. In-depth interviews and Focus Group Discussion were used to collect data from the respondents. The findings revealed that through online counselling, it is easy to access psychosocial therapy, maintain privacy, conduct time/cost-friendly therapy, access services, allow freedom of expression as well as allow easy feedback and follow-up. Also, network connectivity problems, bundle challenges, fear of online hacking and failure to understand clients’ feelings were revealed to be challenges on the use of online counselling. However, awareness on the importance of online counselling, capacity building on the forms of online counselling, availability of free Wi-Fi in university campuses and halls of residence, reduced cost of bundles and provision of university offers as well as formation of online counselling support groups were earmarked as strategies for enhancing online counselling among undergraduate students as a way of enhancing their mental health.

Factors that Influenced Lndian Wtudents to Choose the Career of Audiology and Speech Language Pathology: A Questionnaire Based Study

Purpose: Studies have identified various aspects that influenced the career choice among Audiology and Speech Language Pathology (ASLP) students/professionals in different countries. The factors influencing the choice of career as an ASLP in the Indian context have not been explored. If the predisposing aspects are identified, action can be taken to motivate the prospective students to become an ASLP. Hence, the present study aimed to identify the factors that influenced Indian students to choose ASLP as an option for higher education.Methods: A 20-item questionnaire was developed, validated, and distributed via emails/social media platforms to students pursuing ASLP. A total of 380 undergraduate ASLP students studying at various Speech and Hearing colleges in India responded to the questionnaire.Results: Chi-square association between few demographic details and factors were checked with ASLP as first career choice. Results of the study showed that the participants who had not applied to any other program, had the desire to work in a helping profession, had an experience with an individual with communication disorder, and had an influence from the academic curriculum had a greater chance of having ASLP as the first career choice.Conclusion: Findings of the present study showed similarities and differences in the factors that influence choosing career of ASLP among students in India in comparison to other countries. This study also identified the key factors that could promote the career of ASLP in India, to improve its visibility to young college aspirants. The need for a career counselling is implied by the findings of this investigation.

Evaluating fluvoxamine for the outpatient treatment of COVID-19: A systematic review and meta-analysis.

This systematic review and meta-analysis of randomised controlled trials (RCTs) aimed to evaluate the efficacy, safety, and tolerability of fluvoxamine for the outpatient management of COVID-19. We conducted this review in accordance with the PRISMA 2020 guidelines. Literature searches were conducted in MEDLINE, EMBASE, International Pharmaceutical Abstracts, CINAHL, Web of Science, and CENTRAL up to 14 September 2023. Outcomes included incidence of hospitalisation, healthcare utilization (emergency room visits and/or hospitalisation), mortality, supplemental oxygen and mechanical ventilation requirements, serious adverse events (SAEs) and non-adherence. Fluvoxamine 100mgtwice a day was associated with reductions in the risk of hospitalisation (risk ratio [RR] 0.75, 95% confidence interval [CI] 0.58-0.97; I 2 =0%) and reductions in the risk of healthcare utilization (RR 0.68, 95% CI 0.53-0.86; I 2 =0%). While no increased SAEs were observed, fluvoxamine 100mgtwice a day was associated with higher treatment non-adherence compared to placebo (RR 1.61, 95% CI 1.22-2.14; I 2 =53%). In subgroup analyses, fluvoxamine reduced healthcare utilization in outpatients with BMI ≥30kg/m2 , but not in those with lower BMIs. While fluvoxamine offers potential benefits in reducing healthcare utilization, its efficacy may be most pronounced in high-risk patient populations. The observed non-adherence rates highlight the need for better patient education and counselling. Future investigations should reassess trial endpoints to include outcomes relating to post-COVID sequelaes. Registration: This review was prospectively registered on PROSPERO (CRD42023463829).

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study

Objectives: To comprehensively evaluate the contributions of numerical chromosomal abnormality, copy number variant (CNV), and sequence variant (SV) to fetuses with small head circumference in a Chinese cohort using chromosome microarray analysis and whole exome sequencing. Methods: A total of 157 fetuses with small heads defined as head circumference < − 2 standard deviation (SD) were recruited between October 2014 and March 2023. We used the ultrasonic measurement parameter Z-score to define small head as possible microcephaly (3 < Z ≤ -2), microcephaly (-5 < Z ≤ -3), or pathologic microcephaly (Z ≤ -5). Ultrasound findings and genetic results were analyzed. Results: The overall diagnostic yield of chromosomal abnormalities by microarray analysis was 13 %. Whole exome sequencing revealed eight novel variants and two interesting candidate genes and provided a 25.4 % incremental yield compared with microarray analysis. Of the detected SVs, 56 % were de novo and the most common inheritance pattern was autosomal dominant inheritance presented in 11/16 fetuses. Compared with isolated small heads, non-isolated small heads had a significantly higher detection rate of chromosomal abnormalities (16 % vs. 3.0 %, P = 0.049) but not SVs (24 % vs. 5.5 %, P = 0.126). Subgroup analysis showed that intracranial anomalies had a similar high detection rate of SVs in fetuses with all small heads subgroups while no chromosomal abnormalities and causative SVs were found in fetuses with isolated possible microcephaly. Conclusions: Ultrasound findings of small fetal head circumference < 3 SD below the mean, especially those with intracranial structural abnormalities, indicate the need for genetic counseling. Genetic variants, mainly copy number variants and SV, may be responsible for the substantial proportion of small fetal head circumference, while most are de novo. Whole exome sequencing and microarray analysis are effective diagnostic approaches for this population.

The Science of Paranoid Schizophrenia, the Science of Biomedical Research and the Visionary Future

Science, technology, engineering and medicine are today in the path deep scientific ingenuity and regeneration. Biomedical science and medical science are in the similar vision in the path of newer scientific rejuvenation and deep introspection. Schizophrenia and paranoid schizophrenia is an extremely illness to treat. The author is suffering from schizophrenia since November, 1993. Since August, 2020, he is suffering from a serious form of this illness. Today he has glaucoma in his both eyes since October, 2012. Paranoid schizophrenia is a serious ailment of schizophrenia. Man and mankind are in the groundbreaking areas of affirmative vision. The author deeply reiterates the need of psychotherapy and counseling in the futuristic vision of schizophrenia treatment.

Pendampingan Pastoral Terhadap Mahasiswa Yang Terikat Kuasa Okultisme: Studi Kasus Mahasiswa STT Abdi Sabda

Occultism is a belief in dark powers, spiritual forces outside of God's power. Some members of the community practice occultism, such as belief in the spirits of the dead, talismans believed to protect the body, and immunity skills passed down by ancestors, which cause their descendants to suffer from frequent manifestations and possessions by evil spirits. Some STT Abdi Sabda Medan students are still bound by occultism, affecting them physically, psychologically, and spiritually. Therefore, there is a need for counseling for healing and recovery from their occultism attachment. This paper examines the need for counseling through pastoral counseling theories. The author conducted qualitative research and gathered data by interviewing seven students who were previously bound by occultism and experienced manifestations. They were also served by the Abdi Sabda Medan deliverance ministry team. Of the seven students, five recovered completely, three of whom joined the deliverance team, two did not join, and one is not yet fully recovered, while another refused to release their occult attachment. The author also interviewed Jaharianson Saragih, the deliverance ministry team's mentor, to strengthen the field data. This study aimed to explore how pastoral counseling is conducted on STT Abdi Sabda Medan students bound by occultism.

Exploration of The Birth Planning and Complications Prevention Program Implementation

The Birth Planning and Complications Prevention Program or Program Perencanaan Persalinan dan Pencegahan Komplikasi (P4K) is an effort by the government to reduce the maternal mortality rate in Indonesia. This study aimed to determine the implementation of P4K to reduce maternal mortality in the catchment area of Waihaong Health Center Ambon in 2020. This was a qualitative study with a case study approach. Data collection was conducted in February-May 2020 in the catchment area of Waihaong Health Center. There were 13 informants interviewed in this study (nine pregnant women, two health workers, and two cadres). Data analysis was conducted using content analysis by identifying the emerging themes based on the research objectives. The results of this study show that the implementation of P4K has been running, but it has yet to be maximized because several P4K components still need to be completed. The pregnant woman prepares the components in the P4K sticker without any discussion with the midwife, and some pregnant women still choose to give birth with the help of a traditional birth attendant or “mama biang”. The mother's need for more knowledge about P4K and the lack of human resources as a program administrator was an obstacle to implementing this program. This study indicates that there is still a need for counseling for pregnant women to increase knowledge and awareness of the benefits of P4K and to carry out further training and collaboration between midwives and village cadres to improve P4K implementation.

Ophthalmic manifestations of Czech dysplasia.

Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p.(Arg275Cys) COL2A1 variant. Affected individuals usually present with skeletal abnormalities such as metatarsal hypoplasia of the third and fourth toes and early-onset arthropathy, as well as hearing loss. To date, no ophthalmic findings have been reported in patients with Czech dysplasia even though COL2A1 has been implicated in other ocular conditions such as type 1 Stickler syndrome. For the first time, we report the ocular findings in four families with Czech dysplasia, including type 1 vitreous anomaly, hypoplastic vitreous, retinal tears, and significant refractive error. These novel ocular findings expand the phenotype associated with Czech dysplasia and may aid clinicians as an additional diagnostic feature. Patients with congenital abnormalities of vitreous gel architecture have an increased risk of retinal detachment, and as such, patients may benefit from prophylaxis. Considering that many of the patients did not report any ocular symptoms, vitreous phenotyping is of key importance in identifying the need for counseling with regard to prophylaxis.

Counseling and Training on Mediation in Family Disputes as an Alternative to Dispute Resolution for Members of The Muhammadiyah Branch Leadership (PCM) Ulujami, Pemalang District

Community service activities carried out by a team from the Faculty of Law, Muhammadiyah Purwokerto University which was held on February 3, 2023, located in Ulujami District, Pemalang Regency. The implementation of counseling activities and mediation training is one way to prevent divorce. Based on statistical data that Pemalang Regency is the district with the second highest divorce rate in Central Java. Both divorces are caused by divorce that is done by the husband or divorce that is done by the wife. There are factors that cause divorce filed at the Pemalang Religious Court. The purpose of this service, to reduce the divorce rate in Pemalang Regency, especially for members of the Muhammadiyah Branch Leadership (PCM) Ulujami with the need for counseling and mediation training as an effort to prevent the breakdown of marriage due to divorce if one of the two husbands and wives sues for divorce, and between husband and wife can get along again to become a complete family. Thus conducting counseling and mediation training as an alternative to family dispute resolution is very necessary for districts / cities with high divorce rates. Some of the supporting factors for this service activity include the very high enthusiasm of the members to gain knowledge and training with the presence of 35 members from each family representative under PCM Ulujami Pemalang Regency. Some of the obstacles faced during the service were limitations in supporting facilities including limited space and limited time.

Patients' attitude with surgery for Peyronie's disease: results from a multicentric European study.

Despite the existence of conservative therapies for Peyronie's disease (PD), surgery is commonly utilized for the treatment of bothersome curvatures due to its potential effectiveness, although it carries intrinsic risks and may not universally lead to satisfactory outcomes. To explore the rate and factors influencing patients' willingness to undergo surgery for PD. Data were prospectively collected in 5 European academic centers between 2016 and 2020. Data included age, time from PD onset, penile pain, curvature degree, difficulty at penetration, hourglass deformity, erectile dysfunction (ED), and previous treatments. All patients were offered conservative treatments, either medications or injections. Tunical shortening or lengthening procedures were offered as an alternative to conservative treatments, when indicated. Penile prosthesis was offered to those with concomitant ED. Patients' attitudes with surgery were recorded. Logistic regression analyses tested the profile of patients who were more likely to be willing to undergo surgery. Patients' willingness to undergo surgery for PD. This study included 343 patients with a median age of 57.3years (IQR, 49.8-63.6) and a median penile curvature of 40.0° (IQR, 30.0°-65.0°). Overall, 161 (47%) experienced penetration difficulties and 134 (39%) reported ED. Additionally, hourglass deformity and penile shortening were reported by 48 (14%) and 157 (46%), respectively. As for previous treatments, 128 (37%) received tadalafil once daily; 54 (16%) and 44 (13%), intraplaque verapamil and collagenase injections; and 30 (9%), low-intensity shock wave therapy. Significant curvature reduction (≥20°) was observed in 69 (20%) cases. Only 126 (37%) patients were open to surgery for PD when suggested. At logistic regression analysis after adjusting for confounders, younger age (odds ratio [OR], 0.97; 95% CI, 0.95-1.00; P = .02), more severe curvatures (OR, 1.04; 95% CI, 1.03-1.06; P < .0001), and difficulty in penetration (OR, 1.88; 95% CI, 1.04-3.41; P = .03) were associated with a greater attitude to consider surgical treatment. The need for effective nonsurgical treatments for PD is crucial, as is comprehensive patient counseling regarding surgical risks and benefits, particularly to younger males with severe curvatures. Main limitations are the cross-sectional design and the potential neglect of confounding factors. Patients with PD, having a lower inclination toward surgery, emphasize the need for effective nonsurgical alternatives and accurate counseling on the risks and benefits of PD surgery, particularly for younger men with severe curvatures.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p-22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic heterogeneity. We conducted an international retrospective study of patients carrying genomic gain in the 22q11.21 chromosomal region upstream from LCR22-A identified using FISH, MLPA, and/or array-CGH. We report a cohort of 43 CES cases. We highlight that the clinical triad represents no more than 50% of cases. However, only 16% of CES patients presented with the three signs of the triad and 9% not present any of these three signs. We also highlight the importance of other impairments: cardiac anomalies are one of the major signs of CES (51% of cases), and high frequency of intellectual disability (47%). Ocular motility defects (45%), abdominal malformations (44%), ophthalmologic malformations (35%), and genitourinary tract defects (32%) are other frequent clinical features. We observed that sSMC is the most frequent chromosomal anomaly (91%) and we highlight the high prevalence of mosaic cases (40%) and the unexpectedly high prevalence of parental transmission of sSMC (23%). Most often, the transmitting parent has mild or absent features and carries the mosaic marker at a very low rate (<10%). These data allow us to better delineate the clinical phenotype associated with CES, which must be taken into account in the cytogenetic testing for this syndrome. These findings draw attention to the need for genetic counseling and the risk of recurrence.

Assessment of Health-Related Quality of Life in Post Pulmonary Tuberculosis Patients

Globally, tuberculosis remains an important public health problem and a major leading cause of mortality and morbidity. The term posttuberculosis lung disorder (PTLD) encompasses various manifestations after successful treatment of tuberculosis, such as respiratory symptoms, decline in respiratory function, residual radiological lesions, exercise intolerance, and reduced health­related quality of life (HRQOL). We aimed to assess the HRQOL in PTLD patients by 36­Item Short Form Health Survey. Our study was conducted on PTLD patients who completed their antituberculosis treatment and presented to the outpatient department with diagnosed PTLD or post pulmonary tuberculosis. A total of 92 patients aged 18­-81 years participated in the study after giving written informed consent. Biomass exposure was statistically significant for mental health components (P &lt; .05). Post pulmonary tuberculosis patients with obstructive airway disease showed decreased HRQOL in both physical and mental health components. Our findings revealed a high prevalence of comorbidities, and no significant association was found between physical and mental health components of HRQOL. Thus, we emphasize the need for psychological counselling, pulmonary rehabilitation, and follow­up as holistic management even after microbiological cure for post pulmonary tuberculosis and suggest early screening of HRQOL to improve people’s standard of living.

Psychological impact of COVID-19 on university students in Oman: an examination of stress, resilience and meaning in life

PurposeThis cross-sectional online survey in Oman in April 2021 aimed to assess university students' resilience, stress levels and meaning during the COVID-19 pandemic and identify characteristic profiles.Design/methodology/approachA cross-sectional survey design was used to collect data from full-time students at one University in Oman. Outcomes included sociodemographic information, the brief resilience scale, the perceived stress scale-4 and the meaning in life questionnaire to explore the students' profiles.FindingsA total of 964 students participated (response rate = 34.8%), of which 35% had low resilience scores. The average perceived stress, presence of meaning in life and search for meaning in life scores were 7.9 ± 2.3, 24.2 ± 6.9 and 24.9 ± 7.7, respectively. Cluster analysis identified three groups: low-risk and fewer impacts (cluster A, n = 503, 523%), moderate-risk and moderate impacts (cluster B, n = 160, 16.6%) and high-risk and more impacts (cluster C, n = 301, 31.2%). Cluster C students experienced more psychological problems and were at high risk during the pandemic.Research limitations/implicationsThe respondents' honesty is a possible error that could influence the results. Low response rates limit its generalizability, and cause-effect relationships among mental health outcomes cannot be discerned.Practical implicationsThis study identified three distinct groups of students, each with different levels of severity in their health problems. There is an increased need for education and counseling to support students during this period, and university management should focus on implementing personal precautionary measures and providing high-tech, user-friendly platforms for students to enhance their learning.Originality/valueThese findings suggest that tailored strategies should be developed to address the unique psychological needs of each group. The study provides important information for university management to understand the pandemic's psychological impact on students and develop effective interventions to support their well-being.

EPCO-44. RHABDOID TUMOR PREDISPOSITION SYNDROME DUE TO A GERMLINE SMARCB1 MUTATION IN TWO INFANT SIBLINGS

Abstract INTRODUCTION Rhabdoid tumors (RTs) are highly aggressive malignancies caused by a loss–of–function mutation in the SMARCB1 tumor suppressor gene on chromosome 22 that makes up the SW1/SNF chromatin remodeling complex involved in gene transcription. In rhabdoid tumor predisposition syndrome (RTPS), a biallelic germline SMARCB1 mutation markedly increases the risk of affected individuals developing early, aggressive, and rapidly progressing RTs, most commonly in the CNS, referred to as atypical teratoid rhabdoid tumors (AT/RT), and the kidneys, but oftentimes presents with synchronous lesions. In this case series, we present a family affected by RTPS with a recurrence of AT/RT in two infant siblings with the same germline SMARCB1 mutation. CASE SERIES DESCRIPTION An 8-month-old female was brought to the emergency department for 3 months of vomiting, developmental regression, and CN VI palsy. Brain imaging revealed a posterior fossa mass, acquired obstructive hydrocephalus, and spinal metastasis. Four years later, her 3-month-old sister was also brought in for evaluation for 2 months of vomiting, irritability, increasing head circumference, and vertical gaze palsy. Her brain imaging similarly showed a posterior fossa mass and acquired obstructive hydrocephalus, but no metastasis. Both siblings underwent subtotal tumor resections and ventriculoperitoneal shunt placement followed by chemotherapy. While on active treatment, they experienced rapid disease progression and ultimately succumbed to their illness. Genetic testing on the family identified the same in-frame deletion in the SNF5 homology domain of SMARCB1 and loss of heterozygosity of chromosome 22 in the two sisters; their mother was found to be a carrier. CONCLUSION This case series describes a family affected by RTPS, demonstrating the risk of familial recurrence in SMARCB1 germline mutations and emphasizing the need for genetic testing and counseling for these families should they wish to have additional children.

Artificial placentas, pregnancy loss and loss-sensitive care

In this paper, we explore how the prospect of artificial placenta technology (nearing clinical trials in human subjects) should encourage further consideration of the loss experienced by individuals when their...

Self-care practices of pregnant women: A qualitative study in a Nigerian rural community

Context: Inadequate self-care during pregnancy is a contributor to the poor maternal health indices in Cross River State; including the high maternal mortality ratio of 2,000/100,000 live births.&#x0D; Objectives: The objectives of the study were to identify self-care practices adopted by women during pregnancy and delivery and to identify barriers to quality self care.&#x0D; Methods: Focus Group Discussions, Key informant interviews and in-depth interviews were conducted among pregnant women, women of reproductive age and other stakeholders in Biase Local Government Area of Cross River State.&#x0D; Results: The study revealed inadequate knowledge and practice of self-care during pregnancy. Some pregnant women were unable to recognize early signs of pregnancy while others, especially young unmarried girls, tried to hide the pregnancy. Barriers to effective self-care identified included myths and misconceptions, especially the belief that health-related events during pregnancy are caused by witches and wizards, lack of preparation for pregnancy and abandonment of pregnant women by partners, usually due to unwillingness and/or inability to father the child.&#x0D; Conclusion: There is need for pre-marital and pre-natal counselling and health education so as to address identified gaps in knowledge and practice and lack of male involvement in maternal healthcare.

Awareness About the Benefits of Post-bariatric Surgery in Diabetic Patients in Makkah Almukarramah, Saudi Arabia.

To measure awareness about the benefits of post-bariatric surgery, which is a shortening of the gut in order to lose weight in diabetic patients in the Makkah region, Saudi Arabia. A cross-sectional survey was conducted among diabetic patients aged 18-65 from February to July 2023. An online questionnaire via Google Forms was distributed and used to assess the participants' awareness of the benefits of post-bariatric surgery for diabetic patients. Overall, 388 participants (56.40% female, 43.60% male) were surveyed. Most participants (91.5%) showed awareness of gastric sleeve surgery, while a significant proportion (85.8%) recognized obesity as a disease. A majority of participants (80.90%) showed awareness of the association between obesity, diabetes, and high blood pressure. However, only 46.10% of participants showed awareness of eligibility criteria associated with bariatric surgery. The majority recognized the effectiveness of bariatric surgery for weight loss but did not consider it the first choice, emphasizing a preference for non-surgical weight loss strategies. Participants demonstrated good knowledge about obesity and its implications for health. They also demonstrated good knowledge about bariatric surgery as an effective weight reduction method but expressed a preference for non-surgical methods, which reflects their awareness of the complications of bariatric surgery. However, the results showed a lack of awareness of postoperative indications and lifestyle changes, thus highlighting the need for comprehensive patient education and counseling.

Epilepsy with generalized tonic-clonic seizures alone: Electroclinical features and prognostic patterns.

Epilepsy with generalized tonic-clonic seizures alone (GTCA) is a common but poorly characterized idiopathic generalized epilepsy (IGE) syndrome. Hence, we investigated electroclinical features, seizure outcome, and antiseizure medication (ASM) withdrawal in a large cohort of GTCA patients. In this multicenter retrospective study, GTCA patients defined according to the diagnostic criteria of the International League Against Epilepsy (2022) were included. We investigated prognostic patterns, drug resistance at the last visit, and ASM withdrawal, along with their prognostic factors. We included 247 patients with a median (interquartile range [IQR]) age at onset of 17 years (13-22) and a median follow-up duration of 10 years (IQR = 5-20). Drug resistance at the last visit was observed in 40 (16.3%) patients, whereas the median latency to achieve 2-year remission was 24 months (IQR = 24-46.5) with a median number of 1 (IQR = 1-2) ASM. During the long-term follow-up (i.e., 202 patients followed ≥5-years after the first ASM trial), 69 (34.3%) patients displayed an early remission pattern and 36 (17.9%) patients displayed a late remission pattern, whereas 16 (8%) and 73 (36.3%) individuals had no-remission and relapsing-remitting patterns, respectively. Catamenial seizures and morning predominance of generalized tonic-clonic seizures (GTCS) independently predicted drug resistance at the last visit according to multivariable logistic regression. Treatment withdrawal was attempted in 63 (25.5%) patients, with 59 (93.7%) of them having at least a 12-month follow-up after ASM discontinuation. At the last visit, 49 (83%) of those patients had experienced GTCS recurrence. A longer duration of seizure freedom was the only factor predicting a higher chance of successful ASM withdrawal according to multivariable Cox regression. GTCA could be considered a relatively easily manageable IGE syndrome, with a low rate of drug resistance and a high prevalence of early response to treatment. Nevertheless, a considerable proportion of patients experience relapsing patterns of seizure control, highlighting the need for appropriate counseling and lifestyle recommendations.