Family Counseling Research Articles

Expressive Arts and Family Counseling: An Interview With Dr. Cathy Malchiodi

Dr. Rebecca Pender Baum interviews Dr. Cathy Malchiodi, a leading international expert, writer, and educator in the fields of art therapy, expressive arts therapy, as well as, trauma and arts in healthcare. Dr. Malchiodi has over 30 years of experience and education in trauma intervention and disaster relief. This interview will highlight her expressive arts background and the use of this modality in working with families.

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.

Bardet-Biedl Syndrome (BBS) is a rare (1:13,500-1-160,000) heterogeneous congenital disorder, characterized by postaxial polydactyly, obesity, hypogonadism, rod-cone dystrophy, cognitive impairment, and renal abnormalities (renal cystic dysplasia, anatomical malformation). To date about twenty-five genes have been identified to cause BBS, which accounts for about 80% of BBS diagnosis. In the current study, we have performed mutational screening of four Pakistani consanguineous families (A-D) with clinical manifestation of BBS by microsatellite-based genotyping and whole exome sequencing. Analysis of the data revealed four variants, including a novel/unique inheritance pattern of compound heterozygous variants, p.(Ser40*) and p.(Thr259Leufs*21), in MKKS gene, novel homozygous variant, p.(Gly251Val)] in BBS7 gene and two previously reported p.(Thr259Leufs*21) in MKKS and p.(Met1Lys) in BBS5 gene. The variants were found segregated with the disorder within the families. The study not only expanded mutations spectrum in the BBS genes, but this will facilitate diagnosis and genetic counselling of families carrying BBS related phenotypes in Pakistani population.

Family Counseling after the Diagnosis of Congenital Heart Disease in the Fetus: Scoping Review.

Congenital heart disease (CHD) is the leading cause of death from malformations in the first year of life and carries a significant burden to the family when the diagnosis is made in the prenatal period. We recognize the significance of family counseling following a fetal CHD diagnosis. However, we have observed that most research focuses on assessing the emotional state of family members rather than examining the counseling process itself. The objective of this study was to identify and summarize the findings in the literature on family counseling in cases of diagnosis of CHD during pregnancy, demonstrating gaps and suggesting future research on this topic. Eight databases were searched to review the literature on family counseling in cases of CHD diagnosis during pregnancy. A systematic search was conducted from September to October 2022. The descriptors were "congenital heart disease", "fetal heart", and "family counseling". The inclusion criteria were studies on counseling family members who received a diagnosis of CHD in the fetus (family counseling was defined as any health professional who advises mothers and fathers on the diagnosis of CHD during the gestational period), how the news is expressed to family members (including an explanation of CHD and questions about management and prognosis), empirical and qualitative studies, quantitative studies, no publication deadline, and any language. Out of the initial search of 3719 reports, 21 articles were included. Most were cross-sectional (11) and qualitative (9) studies, and all were from developed countries. The findings in the literature address the difficulties in effectively conducting family counseling, the strengths of family counseling to be effective, opportunities to generate effective counseling, and the main challenges in family counseling.

Health-Related Quality of Life and Sleep Habits of Children with Overweight or Obesity

Abstract Background Obesity is a major public health challenge affecting children of all ages worldwide. Being overweight or obese can have severe negative psychological impacts and a significant reduction in health-related functioning. To improve health-related quality of life (HRQoL) and sleep habits for children with overweight/obesity, it is important to design and implement effective interventions. Few studies have included parents as behavioral agents to improve sleep habits and quality of life in children and adolescents with overweight/obesity. Methods This 6-month, non-randomized, cluster-controlled trial included 166 Norwegian children aged 5-13 years with overweight/obesity and their parents. The intervention group received individual family counselling and participated in physical activity groups and nutrition courses. A frequency questionnaire was filled out by parents, and the sleep habits questionnaire (CSHQ) and Kidsscreen-10 index (proxy version) were used to assess HRQoL. Results The results indicate that, overall, the children had good HRQoL. 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, which are broadly in line with normative data. For sleep habits, the mean average score was 43.8 (SD: 11.6) for the intervention group and 45.1 (SD: 11.7) for the control group. No significant changes in HRQoL and sleep habits were reported as a result of the intervention. Conclusions The children with overweight/obesity reported overall good HRQol at baseline and somewhat worse for sleep habits than the general population. No increase in quality of life or sleep quality was found in the intervention group compared to the control group in children with overweight/obesity. Key messages • The HRQoL among the children with overweight/obesity was good, but there were clinically relevant challenges related to sleep. • No increase in HRQoL and sleep habits were found after the intervention.

Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis

BackgroundNeurodevelopmental diseases are a group of disorders affecting the development of the nervous system and brain function. In particular, neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities is a novel neurodevelopmental syndrome caused by biallelic PPP1R21 loss-of-function variants. This study aimed to investigate the molecular etiology of this neurodevelopmental disorder in an Iranian patient from a consanguineous marriage family.Methods and resultsAfter clinical examination and DNA sampling, whole exome sequencing was performed for the patient. The findings were confirmed and segregated via Sanger sequencing and bioinformatics approach in the patient and parents, respectively. We identified the novel loss-of-function mutation of c.1317_1318delAG p.(Asp440Tyrfs*6) in PPP1R21 gene in our patient suffering from severe developmental delays, mental retardation, facial deformities, muscle weakness, difficulty breathing and feeding, and vision impairment. Through Sanger sequencing, the homozygous and heterozygous statuses of this variant were observed in the patient and the parents, respectively. As well, the bioinformatics approach demonstrated the disease-causing effect and clinical pathogenicity of this mutation.ConclusionsSuch findings improve our knowledge of patients with neurodevelopmental phenotypes. In addition, these results can be particularly helpful for prenatal and preimplantation diagnosis and genetic counseling of families with a high risk of infantile intellectual disabilities.

Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.

Lynch syndrome (LS) is an inherited cancer susceptibility syndrome caused by germline mutations in a DNA mismatch repair (MMR) gene or in the EPCAM gene. LS is associated with an increased lifetime risk of colorectal cancer (CRC) and other malignancies. The screening algorithm for LS patient selection is based on the identification of CRC specimens that have MMR loss/high microsatellite instability (MSI-H) and are wild-type for BRAFV600. Here, we sought to clinically and molecularly characterize patients with these features. From 2017 to 2023, 841 CRC patients were evaluated for MSI and BRAFV600E mutation status, 100 of which showed MSI-H. Of these, 70 were wild-type for BRAFV600. Among these 70 patients, 30 were genetically tested for germline variants in hereditary cancer predisposition syndrome genes. This analysis showed that 19 of these 30 patients (63.3%) harbored a germline pathogenic or likely pathogenic variant in MMR genes, 2 (6.7%) harbored a variant of unknown significance (VUS) in MMR genes, 3 (10%) harbored a VUS in other cancer-related genes, and 6 (20%) were negative to genetic testing. These findings highlight the importance of personalized medicine for tailored genetic counseling, management, and surveillance of families with LS and other hereditary cancer syndromes.

DICER1 syndrome: clinical variety endocrine manifestations and features of diagnostics

DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations - multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non-endocrine formations - pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran.

Hyperphenylalaninemia (HPA) is a metabolic disorder classified into phenylalanine-4-hydroxylase (PAH) and non-PAH deficiency. The latter is produced by mutations in genes involved in the tetrahydrobiopterin (BH4) biosynthesis pathway and DNAJC12 pathogenetic variants. The BH4 metabolism, including de novo biosynthesis involved genes (i.e., guanosine 5'-triphosphate cyclohydrolase I (GTPCH/GCH1), sepiapterin reductase (SR/SPR), 6-pyruvoyl-tetrahydropterin synthase (PTPS/PTS)), and two genes that play roles in cofactor regeneration pathway (i.e., dihydropteridine reductase (DHPR/QDPR) and pterin-4α-carbinolamine dehydratase (PCD/PCBD1)). The subsequent systemic hyperphenylalaninemia and monoamine neurotransmitter deficiency lead to neurological consequences. The high rate of consanguineous marriages in Iran substantially increases the incidence of BH4 deficiency. We utilized the Sanger sequencing technique in this study to investigate 14 Iranian patients with non-PAH deficiency. All affected subjects in this study had HPA and no mutation was detected in their PAH gene. We successfully identified six mutant alleles in BH4-deficiency-associated genes, including three novel mutations: one in QDPR, one in PTS, and one in the PCBD1 gene, thus giving a definite diagnosis to these patients. In this light, appropriate patient management may follow. The clinical effect of reported variants is essential for genetic counseling and prenatal diagnosis in the patients' families and significant for the improvement of precision medicine.

Association of EEG Background and Neurodevelopmental Outcome in Neonates With Hypoxic-Ischemic Encephalopathy Receiving Hypothermia.

Predicting neurodevelopmental outcome for neonates with hypoxic-ischemic encephalopathy (HIE) is important for clinical decision-making, care planning, and parent communication. We examined the relationship between EEG background and neurodevelopmental outcome among children enrolled in a trial of erythropoietin or placebo for neonates with HIE treated with therapeutic hypothermia. Participants had EEG recorded throughout hypothermia. EEG background was classified as normal, discontinuous, or severely abnormal (defined as burst suppression, low voltage suppressed, or status epilepticus) at 5 1-hour epochs: onset of recording, 24, 36, 48, and 72 hours after birth. The predominant background pattern during the entire continuous video EEG monitoring recording was calculated using the arithmetic mean of the 5 EEG background ratings (normal = 0; discontinuous = 1; severely abnormal = 2) as follows: "predominantly normal" (mean = 0), "normal/discontinuous" (0 < mean<1), "predominantly discontinuous" (mean = 1), "discontinuous/severely abnormal" (1 < mean<2), or "predominantly severely abnormal" (mean = 2). Primary outcome was death or neurodevelopmental impairment (NDI) defined as cerebral palsy, Gross Motor Function Classification Score ≥1, or cognitive score <90 on Bayley Scales of Infant Toddler Development, third edition at age 2 years. Neurodevelopment was also categorized into a 5-level ordinal measure: no, mild, moderate, severe NDI, or death for secondary analysis. We used generalized linear regression models with robust standard errors to assess the relative risk of death or NDI by EEG background in both unadjusted and adjusted analyses controlling for the effects of treatment group, sex, HIE severity, and study recruitment site. Among 142 neonates, the predominant background EEG pattern was predominantly normal in 35 (25%), normal/discontinuous in 68 (48%), predominantly discontinuous in 11 (7.7%), discontinuous/severely abnormal in 16 (11%), and predominantly severely abnormal in 12 (8.5%). Increasing severity of background across monitoring epochs was associated with increasingly worse clinical outcomes. Children with severe EEG background abnormality at any time point (n = 36, 25%) were significantly more likely to die or have severe NDI at 2 years (adjusted relative risk: 7.95, 95% CI 3.49-18.12). EEG background is strongly associated with NDI at age 2 years. These results can be used to assist health care providers to plan follow-up care and counsel families for decision-making related to goals of care.

SAT187 A Case Of CDC73 Mutation Related Primary Hyperparathyroidism With Ectopic Parathyroid Hyperplasia

Abstract Disclosure: T. Wu: None. N. Dhir: None. M. Bollineni: None. Introduction: Primary hyperparathyroidism is the most common cause of hypercalcemia, and most cases are sporadic. However, in 5-10% cases, it may occur as a syndromic and hereditary disease, like Multiple endocrine neoplasia type 1, type 2A, type 4, or CDC73 mutation related hereditary benign or malignant hyperparathyroidism. In patients with severe or early onset primary hyperparathyroidism, screening for genetic etiology should be considered. Case Presentation: A 35-year-old woman with a medical history of hypertension, kidney stones, and post-operative hypothyroidism presented to the endocrinology clinic due to recurrent hyperparathyroidism. She initially had a parathyroidectomy in 2008 and her calcium corrected at that time. She was again diagnosed with hypercalcemia due to primary hyperparathyroidism in 2021. She underwent re-exploration and had a right thyroid lobectomy with removal of three parathyroid glands. Her PTH was still 309 pg/mL (9-77 pg/mL) and calcium was 11.2 mg/dL (8.6-10.5 mg/dL), and she was started on Cinacalcet. The patient continued to have elevated calcium, bone pain, fatigue, and constipation. A 4D CT scan was ordered, which localized activity to a 1.5 cm arterial enhancing nodule in the anterior mediastinum, with intrathymic location. She underwent right video-assisted thoracoscopic total thymectomy with en bloc and the nodule was found to be ectopic parathyroid tissue. Post-operatively, her calcium normalized to 8.6 mg/dL and PTH was undetectable. She underwent genetic testing due to her recurrent hyperparathyroidism, which showed a CDC73 mutation. She is currently on calcitriol and calcium supplements, and serum calcium has been maintained in the low-normal range. Discussion: The CDC73 gene encodes a protein called parafibromin, which acts as a tumor suppressor, prohibiting cells from proliferating. Mutations in this gene are linked to jaw-tumor syndrome, familial isolated primary hyperparathyroidism (FIHP), and parathyroid carcinoma. These three CDC73-related disorders are clinically overlapping and inherited in an autosomal dominant manner. Biallelic mutations of the CDC73 gene are associated with a high risk of parathyroid cancer since the parafibromin protein is usually absent in parathyroid carcinoma and occasionally in atypical adenomas. FIHP tends to have a more severe clinical presentation with earlier onset (younger than 45 years). Additionally, patients with CDC73 related disorders are more prone to developing ossifying fibroma(s) of the jaw, uterine tumors, and various renal lesions. In summary, this case highlights the diagnostic and therapeutic challenges in a patient with persistent primary hyperparathyroidism after a failed second surgery. Genetic testing is vital for early detection, surveillance, and familial genetic counseling in patients with CDC73 related disorders. Presentation: Saturday, June 17, 2023

SAT547 Hereditary Paraganglioma: The Rare Co-Existence Of Two Genetic Syndromes Associated With PPGL-pheochromocytoma

Abstract Disclosure: K. Samuel: None. Hereditary Paraganglioma: the rare co-existence of two genetic syndromes associated with PPGL-Pheochromocytoma Kelara Samuel MD, Bryan McIver MD, Colleen Veloski MD, Julie Hallanger-Johnson MD, Valentina D. Tarasova, John Tourtelot MD, George Q. Yang MD, Sarimar Agosto-Salgado MD Background: Paragangliomas are neuroendocrine tumors arising from neural crest chromaffin cells of the autonomic ganglia and can be parasympathetic or sympathetic in nature. Approximately 30 percent of all paragangliomas are hereditary either associated with familial paraganglioma syndromes and other autosomal dominant syndromes, such as multiple neuroendocrine neoplasia 2A and 2B, neurofibromatosis type 1, and von Hippel Lindau disease.Case: A 73-year-old Hispanic female with a past medical history of hypothyroidism, hypertension, hyperlipidemia, and Lupus presented with a large neck mass of 11 years of evolution. An evaluation revealed a large near 12cm hypervascular, hyperenhancing left neck mass that encased the distal common carotid artery, carotid bifurcation, and internal and external carotid arteries and their branches. The multidisciplinary team recommended, given the tumor's extent, a non-surgical localized treatment consisting of radiation. Clinically, the patient had compressive symptoms, including tenderness over the tumor region, hoarseness, dysphagia, and changes in phonation. The patient also had a positive family history of paraganglioma in her grandson and nephew, but specific genetic alteration data from relatives was unavailable. Plasma normetanephrines were 0.68 (normal range 0-0.89), and plasma metanephrines were 0.23 (normal range 0-0.49). Genetic testing was positive for germline alterations in both SDHB p.Q214 and NF1 c.2970_2972delAAT. At this time, there is no evidence of metastatic disease and no clinical manifestations of NF1, suggesting a mild neurofibromatosis phenotype. Restaging imaging revealed an ongoing partial response to radiation and clinically patient has noted a significant improvement in the prior compressive symptoms. Conclusion: We present a case where we see an uncommon presentation of a non-secretory, hereditary paraganglioma with two concomitant rare genetic syndromes. This case highlights the importance of genetic testing for patient-appropriate tumor surveillance and family counseling implications. Presentation Date: Saturday, June 17, 2023

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

BackgroundThe MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skeletal myopathies or a combination of both, depending on the affected region. In this study, we performed clinical and molecular examinations of the proband of an Iranian family with MSM in an autosomal dominant condition exhibiting proximal muscle weakness and dilated cardiomyopathy.MethodsFollowing thorough clinical and paraclinical examinations, whole-exome sequencing `was performed on the proband (II-5). Pathogenicity prediction of the candidate variant was performed through in-silico analysis. Co-segregation analysis of the WES data among the family members was carried out by PCR-based Sanger sequencing.ResultsA novel heterozygous missense variant, MYH7 (NM_000257): c.C1888A: p.Pro630Thr, was found in the DNA of the proband and his children and confirmed by Sanger sequencing. The in-silico analysis revealed that p.Pro630Thr substitution was deleterious. The novel sequence variant fell within a highly conserved region of the head domain. Our findings expand the spectrum of MYH7 mutations.ConclusionsThis finding could improve genetic counseling and prenatal diagnosis in families with clinical manifestations associated with MYH7-related myopathy.

Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.

Exome sequencing (ES) has proven to be a valuable diagnostic tool for neuromuscular disorders, which often pose a diagnostic challenge. The aims of this study were to investigate the clinical outcomes associated with utilization of ES in the pediatric neuromuscular clinic and to determine if specific phenotypic features or abnormal neurodiagnostic tests were predictive of a diagnostic result. This was a retrospective medical record review of 76 pediatric neuromuscular clinic patients who underwent ES. Based upon clinical assessment prior to ES, patients were divided into two groups: affected by neuromuscular (n = 53) or non-neuromuscular (n = 23) syndromes. A diagnosis was made in 28/76 (36.8%), with 29 unique disorders identified. In the neuromuscular group, a neuromuscular condition was confirmed in 78% of those receiving a genetic diagnosis. Early age of symptom onset was associated with a significantly higher diagnostic yield. The most common reason neuromuscular diagnoses were not detected on prior testing was due to causative genes not being present on disease-specific panels. Changes to medical care were made in 57% of individuals receiving a diagnosis on ES. These data further support ES as a powerful diagnostic tool in the pediatric neuromuscular clinic and highlight the advantages of ES over gene panels, including the ability to identify diagnoses regardless of etiology, identify genes newly associated with disease, and identify multiple confounding diagnoses. Rapid and accurate diagnosis by ES can not only end the patient's diagnostic odyssey, but often impacts patients' medical management and genetic counseling of families.

Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study.

Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by pathogenic variants of the fibrillin-1-encoding FBN1 gene that commonly affects the cardiovascular, skeletal, and ocular systems. This study aimed to evaluate the clinical features and genetic causes of the MFS phenotype in a large Iranian family. Seventeen affected family members were examined clinically by cardiologists and ophthalmologists. The proband, a 48-year-old woman with obvious signs of MFS, her DNA sample subjected to whole-exome sequencing (WES). The candidate variant was validated by bidirectional sequencing of proband and other available family members. In silico analysis and molecular modeling were conducted to determine the pathogenic effects of the candidate variants. The most frequent cardiac complications are mitral valve prolapse and regurgitation. Ophthalmic examination revealed iridodonesis and ectopic lentis. A heterozygous missense variant (c.2179T>C/p.C727R) in exon 19 of FBN1 gene was identified and found to cosegregate with affected family members. Its pathogenicity has been predicted using several in silico predictive algorithms. Molecular docking analysis indicated that the variant might affect the binding affinity between FBN1 and LTBP1 proteins by impairing disulfide bond formation. Our report expands the spectrum of the Marfan phenotype by providing details of its clinical manifestations and disease-associated molecular changes. It also highlights the value of WES in genetic diagnosis and contributes to genetic counseling in families with MFS.

НАПРАВЛЕНИЯ ПСИХОЛОГИЧЕСКОЙ ПОМОЩИ БОЛЬНЫМ С ПОСЛЕДСТВИЯМИ ИНСУЛЬТА В УСЛОВИЯХ РЕАБИЛИТАЦИИ С УЧАСТИЕМ МУЛЬТИДИСЦИПЛИНАРНОЙ БРИГАДЫ ПОЛИКЛИНИКИ

The disabling consequences of a stroke, impaired motor and cognitive functions, the unpredictability of the prognosis of their recovery, affective reactions to the disease can make it difficult to form adherence to treatment and acceptance of the disease, and therefore psychological assistance to patients after a stroke in the rehabilitation process is relevant. The aim of the study was to identify the direction of psychological assistance to patients with the consequences of a stroke in the conditions of rehabilitation in a polyclinic with the participation of a multidisciplinary team (MDB). The study involved 115 patients after a stroke, 63 men, 52 women; aged 38 to 94 years, with self-service disorders of varying severity. Rehabilitation measures were carried out with patients (drug therapy, exercise therapy, occupational therapy, speech therapy and psychological assistance) in a polyclinic at home. The psychological assistance was aimed at correcting attitudes towards the disease and treatment, at forming a positive therapeutic and life perspective in the mind of the patient, and at forming adherence to treatment. Family counseling was aimed at improving the interaction between relatives and patients. After carrying out rehabilitation measures and a psychological assistance program, there is a positive trend in self-care indicators (Bartel scale), cognitive functions (MMSE scale), and a decrease in anxiety and depression (HADS scale). Our study in a district clinic showed the relevance and extreme importance of including a psychological assistance program in the work of a multidisciplinary team. Directions of psychological assistance in a polyclinic included work with patients and with the micro-society (with relatives of patients).

Perception of School Counsellors on Family Therapy as a Panacea to the Phenomenon of Empty Nest Syndrome in Southwest, Nigeria

This study examined the perception of school counselors on family therapy as a panacea to the phenomenon of empty nest syndrome in Southwest Nigeria. The target population of the study was all school counsellors in Southwest Nigeria. The sample consisted of 1200 school counsellors representing 200 from each of the six states of the Southwest Nigeria using the multi stage sampling approach. A questionnaire was self-developed by the researcher to collect data for the study. The content validity of the instrument was established and the instrument was subjected to reliability test using test retest approach in which Pearson’s Product Moment Correlation Coefficient formula was used to establish the coefficient. The Coefficient of 0.75 was obtained for the instrument which was considered high enough for the instrument. Four hypotheses were raised to pilot the study and the hypotheses were tested at 0.05 alpha level of significance. Data collected were analyzed using t-test statistics where two means were being compared while Analysis of Variance (ANOVA) were used to analyze data where more than two means were being compared. The findings of this study revealed that there were significant differences in respondents’ responses on family counseling as an antidote to empty nest syndrome based on religion [F(2,1197)=8.61;P&lt;.05], years of working experience [F(3,1196)=2.87;p&lt;.05] and educational qualifications [F(3,1196)=3.32;P&lt;.05], but there was no significant difference based on gender of respondents. The findings of this study have implications for school psychologists, school guidance counselors and educationists alike. It was therefore recommended that family therapy should be given a chance by practicing school counselors to help mitigate the effects of empty nest syndrome among parents in Southwest Nigeria. Keywords: School counselors’ perception, Empty nest syndrome, Family therapy.

Causes of Visual Impairment and Types of Low Vision Aids Prescribed in Low Vision Clinic, Sibu Hospital, Sarawak

This study was to determine the causes of visual impairment and to identify the low vision prescribing pattern among Low Vision Clinic (LVC) patients in the Sibu Hospital. This study was conducted retrospectively among 41 patients attending the LVC, Sibu Hospital. Patients’ demographic characteristics, causes of low vision and blindness, and types of low vision devices prescribed were recorded and analysed for 21 (52.5%) males and 19 (47.5%) females. The mean age was 39.38 ± 17.98 years. The main causes of visual impairment were retinal dystrophies in 12 cases (30.0%) followed by neurological causes in 9 cases (22.5%), glaucoma in 8 cases (20.0%), and acquired macular disorders in 4 cases (10.0%). A total of 27 low vision devices were dispensed, 85.2% (n = 23) were near devices and 14.8% (n = 4) were distance devices. The most frequently prescribed low vision devices (LVD) were video magnifiers (37.0%), followed by hand magnifiers (22.2%), spectacle magnifiers (14.8%), telescopes (14.8%) and stand magnifiers (11.1%). The main leading causes of visual impairment in LVC Sibu Hospital were retinal dystrophies. Video magnifiers were the most common type of low-vision device prescribed. A prompt comprehensive screening is urged for family members with retinal dystrophies to detect the diseases early and hence timely exposure to low vision care and rehabilitation. Familial counselling on inherited retinal diseases and better screening by primary eye care providers are required. Low vision services should be an integral part of the eye care systems in Malaysia.

An Evaluation on Verse 21 of Surah Rum in the Context of Spiritually Oriented Family Counseling

Maneviyat yönelimli aile danışmanlığı, ülkemizde son yıllarda çalışılan konulardandır. Aile danışmanlığına din ve maneviyatın entegre edilmesinin önemi ve gereği gün geçtikçe ortaya çıkmaktadır. Bu makalede maneviyat yönelimli aile danışmanlığı çerçevesinde yapılacak eğitim ve terapilerde temel referanslardan olması öngörülen Rûm sûresi 21. âyet incelenmiştir. Söz konusu âyet temel tefsir kaynakları ve maneviyat yönelimli aile danışmanlığı çerçevesinde değerlendirilmiştir. Bu konudaki çalışmaların az sayıda olması ve maneviyat yönelimli aile danışmanlığı kapsamındaki seanslarda verilecek bilginin temellendirilmesi bu makaleyi önemli kılmaktadır. Bu makalede, tanımlayıcı bir yöntemle, tefsirler ışığında ve maneviyat yönelimli aile danışmanlığı çerçevesinde Rûm sûresi 21. âyet ele alınmıştır. Amaç; maneviyat yönelimli aile danışmanlığı çalışmalarına ve bu çerçevede gerçekleştirilecek eğitim veya terapilere bilgi düzeyinde katkı sağlamaktır. Bu amaç doğrultusunda incelenen Rûm sûresi 21. âyetin içeriği evliliğin amacı, işlevi ve evliliğin devamlılığını sağlayan unsurlar olarak değerlendirilmiştir. Bu değerlendirme çerçevesinde âyetteki teskîn kelimesinin evliliğin amacına ve işlevine; meveddet ve rahmet kelimelerinin ise evliliğin işlevine hizmet eden araçlara ya da evliliğin devamlılığını sağlayan unsurlara işaret ettiği sonucuna ulaşılmıştır. Teskîn kelimesi huzuru sağlayan her şey olarak yorumlanırken meveddet kelimesi söze ve eyleme yansıyan aktif sevgi olarak tanımlanmıştır. Rahmet kelimesi ise karşılıklı anlayış, nezaket, şefkat, iyilik ve güzel muamele olarak anlaşılmıştır. İşlevsel evliliğin her iki eşin çabasına bağlı olduğu kanaatine ulaşılmıştır. Maneviyat yönelimli aile danışmanlığı uygulamaları için Rûm sûresi 21. âyet çerçevesinde sükûn yaklaşımı adıyla bir öneri sunulmuştur.

Incidence of hydrocephalus following decompressive craniectomy for ischaemic stroke: A systematic review and meta-analysis

ObjectiveDecompressive craniectomy (DC) following malignant ischaemic stroke is a potentially life-saving procedure. Event rates of ventriculomegaly following DC performed in this setting remain poorly defined. Accordingly, we performed a systematic review to determine the incidence of hydrocephalus and the need for cerebrospinal fluid (CSF) diversion following DC for malignant stroke. MethodsMEDLINE, EMBASE and Cochrane libraries were searched from database inception to 17 July 2021. Our search strategy consisted of “Decompressive Craniectomy”, AND “Ischaemic stroke”, AND “Hydrocephalus”, along with synonyms. Through screening abstracts and then full texts, studies reporting on rates of ventriculomegaly following DC to treat ischaemic stroke were included for analysis. Event rates were calculated for both of these outcomes. A risk of bias assessment was performed to determine the quality of the included studies. ResultsFrom an initial 1117 articles, 12 were included following full-text screening. All were of retrospective design. The 12 included studies reported on 677 patients, with the proportion experiencing hydrocephalus/ventriculomegaly being 0.38 (95% CI: 0.24, 0.53). Ten studies incorporating 523 patients provided data on the need for permanent CSF diversion, with 0.10 (95% CI: 0.07, 0.13) requiring a shunt. The included studies were overall of high methodological quality and rigour. ConclusionThough hydrocephalus is relatively common following DC in this clinical setting, only a minority of patients are deemed to require permanent CSF diversion. Clinicians should be aware of the incidence of this complication and counsel patients and families appropriately.

SOCIAL AND PSYCHOLOGICAL FACTORS IN THE DYNAMICS OF SPOUSE RELATIONSHIPS UNDER QUARANTINE

The purpose of the article is to highlight the results of the study of the influence of social and psychological factors on the dynamics of spouse relations under quarantine. The research tasks were solved with the help of a set of theoretical and empirical methods of psychodiagnostic research: "Typical Marital Status" (E. Eidemiller), "Marriage Satisfaction" questionnaire (V. Stolin), Color relationship test (A. Etkind) , "Dynamics of psychological closeness in a married couple" (O. Kronyk), "Tolerance to uncertainty" (S. Badner) and express diagnosis of marital relations under quarantine restrictions (according to V. Stolin's "Marriage Satisfaction" questionnaire). Based on the results of the empirical research, the socio-psychological factors (tolerance, the state of the individual in the family) of the dynamics of such parameters of the partner's relationship as psychological closeness and attitude towards the partner have been singled out. The study was conducted under the conditions of a long-term quarantine due to Covid-19 and covered the period from 2020 to the end of 2021. The sample included married couples who are in an official marriage. The invitation to participate in the study was posted on social networks – mainly among participants of psychological groups in the Viber messenger. Based on the understanding of quarantine as a certain set of restrictive measures that can have a destructive effect, we have proven that the disruption of stability in the dynamics of marital relations in conditions of long-term quarantine is a factor that negatively affects all family members, regardless of the fact that the events, which occur during the stay of the spouses in quarantine conditions, can be both negative and positive, joyful and long-awaited. Based on the results of the conducted research, it can be stated that quarantine conditions do not have a decisive negative impact on the factors of marital satisfaction, while they have a certain destructive effect on the socio-psychological factors of tolerance and the state of an individual in a married couple. Quarantine conditions cause destruction in marital relations, attitude towards partner and psychological closeness, which we identified in the research. The psychological recommendations developed on the basis of the obtained data are tested in the process of family counseling and are able to slow down the negative dynamics of the development of marital relations under quarantine