Mental Retardation Research Articles

Psychiatric disorders in patients with epilepsy in the Japanese Hospital and the Dr. Mario Ortíz Suárez Children's Hospital of Santa Cruz, Bolivia

Introduction: Epilepsy is an important neurological disease characterized by stigma, high psychiatric comorbidity, and considerable economic costs. Globally, it is ranked as the second most serious neurological disorder in terms of disability-adjusted life years. In Bolivia, no epidemiological studies have been carried out on psychiatric comorbidity in patients with epilepsy in this context. Objective: To analyze the sociodemographic variables, identify the most frequent psychiatric disorders and determine the association between these disorders and the type of epilepsy, in patients with epilepsy treated in outpatient clinics in tertiary hospitals in Santa Cruz.Methods: This study is observational, descriptive, analytical, retrospective, cross-sectional and multicenter. The study population included all patients with a diagnosis of epilepsy seen in an outpatient Neurology clinic, with a concurrent diagnosis of psychiatric disorders. A non-probabilistic sample was used to collect data, which was obtained through the review of medical records and statistical records, using a structured data collection form.Results and discussion: According to the data obtained, an equitable distribution is observed between both sexes. Regarding age, adults predominate followed by children. Regarding education, the majority of participants have primary education, followed by secondary education. The other educational levels (preschool, middle/higher technical, university, and special education) have smaller representations. The relationship between education and age shows that the majority of adults have primary education. Regarding the etiology of epilepsy, the unknown cause predominates, followed by the structural cause and the genetic cause. Regarding the type of epilepsy, the most common is generalized, followed by seal and combined. In psychiatric diagnosis, the most common disorder is mental retardation.Conclusions: The results highlight the high prevalence of mental retardation in its different degrees and depressive disorder among patients with epilepsy. The etiology of epilepsy, the unknown cause predominates, followed by the structural cause and the genetic cause. In psychiatric diagnosis, the most common disorder is mental retardation. More epidemiological studies are required to further evaluate psychiatric comorbidity in patients with epilepsy, which could inform better clinical management and intervention strategies.

Abstract Introduction of a novel pathogenic variant (c.1684G>A) in the SOX5 gene associated with Lamb– Shaffer syndrome in a family from north of Iran

So far, different types of SOX5 variants have been reported in patients with LAMSHF syndrome, which are mainly clustered in the HMG domain. The LAMSHF syndrome has a broad variety of clinical manifestations such as developmental delay, speech delay, intellectual disability, and behavioral disturbances. In this article, we aim to present three cases with Lamb–Shaffer syndrome who are heterozygotes for a novel variant (c.1684G>A) in the SOX5 gene in a family from the north of Iran. A 38-year-old male case with moderate mental retardation and strabismus, with a head circumference size of 56 cm, was tested for genetic diagnosis. The results of wholeexome sequencing (WES) indicated the c.1684G>A pathogenic variant (NM_006940.6) in the SOX5 gene in a heterozygote state. Family analysis showed that the proband’s sister and father, who have similar symptoms, also carry the detected variant. Like the previous cases, the presented cases with a missense variant in the HMGdomain also have a mild phenotype. The introduction of new patients, especially with new pathogenic variants, is fundamental to increasing our knowledge about the disease and possible genotype–phenotype correlations.

Dyke –Davidoff – Masson Syndrome in a 28 years old pregnant woman – A rare case report

Dyke -Davidoff- Masson (DDM) Syndrome is rare neurological disorder commonly affecting the children but is rarely reported in adults as well. It mostly presents with seizure, hemiparesis followed by mental retardation and facial asymmetry. We here in report a case of 28 years old female (G3P2A0) with 34+ weeks of pregnancy who presented with generalized tonic clonic seizures and was incidentally diagnosed as DDM. She was managed with an External ventricular drain and antiepileptic medication. This case report aims to draw the attention of health care professionals to keep DDM as a differential in a patient with seizure.

Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome.

Fragile X syndrome (FXS) is an inherited neurodevelopmental disorder and the leading genetic cause of autism spectrum disorders. FXS is caused by loss of function mutations in Fragile X mental retardation protein (FMRP), an RNA binding protein that is known to regulate translation of its target mRNAs, predominantly in the brain and gonads. The molecular mechanisms connecting FMRP function to neurodevelopmental phenotypes are well understood. However, neither the full extent of reproductive phenotypes, nor the underlying molecular mechanisms have been as yet determined. Here, we developed new fmr1 knockout zebrafish lines and show that they mimic key aspects of FXS neuronal phenotypes across both larval and adult stages. Results from the fmr1 knockout females also showed that altered gene expression in the brain, via the neuroendocrine pathway contribute to distinct abnormal phenotypes during ovarian development and oocyte maturation. We identified at least three mechanisms underpinning these defects, including altered neuroendocrine signaling in sexually mature females resulting in accelerated ovarian development, altered expression of germ cell and meiosis promoting genes at various stages during oocyte maturation, and finally a strong mitochondrial impairment in late stage oocytes from knockout females. Our findings have implications beyond FXS in the study of reproductive function and female infertility. Dissection of the translation control pathways during ovarian development using models like the knockout lines reported here may reveal novel approaches and targets for fertility treatments.

Teachers' Efforts to Improve Discipline Through Sociodrama for Class IV Mildly Mentally Impaired Children at SLB YPDP and SLB Bina Kasih Bandung

A mentally retarded child is a child with special needs who has an abnormality in terms of an intelligence level below average. The condition of mentally retarded children who have intellectual and adaptive obstacles and are unable to think abstractly hinders learning activities. Teachers need methods that can be used to provide learning for children, one of the learning methods that can be done is through sociodrama. The research was conducted in two schools using descriptive qualitative research methods, observation, interview and documentation data collection techniques. The research subjects were teachers and children with mild intellectual disabilities. The results of the research show that children with mild mental retardation are able to carry out the discipline that has been taught at school and apply it to everyday life, but in certain aspects mentally retarded children still need guidance and assistance from teachers. Recommendations are aimed at teachers and schools which teachers should provide guidance and developing potential in children, by using appropriate learning strategies, teaching methods and media, so as to provide motivation to both children and all class teachers to develop learning programs.

Current status and controversies in the treatment of neonatal hypoxic-ischemic encephalopathy: A review.

Neonatal hypoxic-ischemic encephalopathy is a type of traumatic brain injury caused by insufficient cerebral perfusion and oxygen supply in the perinatal neonate, which can be accompanied by different types of long-term neurodevelopmental sequelae, such as cerebral palsy, learning disabilities, mental retardation and epilepsy It is one of the main causes of neonatal death and disability, and it has caused a great burden on families and society. Therefore, this article mainly reviews the latest developments in mild hypothermia therapy and related drugs for neonatal hypoxic-ischemic encephalopathy.

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes

Low-level somatic mutations in the human brain are implicated in various neurological disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder (ASD), however, remains poorly understood. Here, we performed high-depth exome sequencing with an average read depth of 559.3x in 181 cortical, cerebellar, and peripheral tissue samples to identify brain somatic single nucleotide variants (SNVs) in 24 ASD subjects and 31 controls. We detected ~2.4 brain somatic SNVs per exome per single brain region, with a variant allele frequency (VAF) as low as 0.3%. The mutational profiles, including the number, signature, and type, were not significantly different between the ASD patients and controls. Intriguingly, when considering genes with low-level brain somatic SNVs and ASD risk genes with damaging germline SNVs together, the merged set of genes carrying either somatic or germline SNVs in ASD patients was significantly involved in ASD-associated pathophysiology, including dendrite spine morphogenesis (p = 0.025), mental retardation (p = 0.012), and intrauterine growth retardation (p = 0.012). Additionally, the merged gene set showed ASD-associated spatiotemporal expression in the early and mid-fetal cortex, striatum, and thalamus (all p < 0.05). Patients with damaging mutations in the merged gene set had a greater ASD risk than did controls (odds ratio = 3.92, p = 0.025, 95% confidence interval = 1.12–14.79). The findings of this study suggest that brain somatic SNVs and germline SNVs may collectively contribute to ASD-associated pathophysiology.

The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population

AimThe aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis. Materials and MethodsThis study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis. All the cases diagnosed with CTX for whom clinical and laboratory findings were evaluated were included in the study. ResultsEvaluation was made of 11 patients from 5 different families. The diagnosis was established 25 years after the symptoms first appeared. The diagnosis was made because of bilateral cataracts in 2 patients, tendon xanthomas in 2, and as a result of family screening in 7. Tendon xanthomas were present in 36.3% of the patients, and there was a history of cataract in 54.5%. In the current study, mental retardation was determined in 72% of the patients, psychiatric findings in 36%, epilepsy in 36%, pyramidal-extrapyramidal findings in 45%, and postural tremor in 54%. In addition, neuropsychiatric symptoms were seen at different rates in patients with different gene alleles. No tendon xanthomas were determined in the cases with c.1263+4A>T and c.808C>T mutations. Cataract was determined in all the cases with homozygote c.1263+4A>T mutation. ConclusionIn this study, it was determined that the cases were diagnosed late despite the onset of symptoms providing clues for diagnosis at an early age. It was determined that the delay in diagnosis was 25 years.

The Application of Graphology in Assessing Deaf People's Communication and Social Interaction Abilities

Graphology, the study of handwriting, has been used to interpret an individual's character and personality. This study examined the application of graphology in assessing the communication and social interaction abilities of deaf people. Deaf individuals face challenges in building social relationships and communicating with others because of their hearing impairment and reliance on nonverbal communication techniques such as sign language. Previous research has explored the potential of graphology in diagnosing attention deficit hyperactivity disorder (ADHD) and mental retardation as well as in revealing the psychological aspects of historical figures. However, few studies have investigated the application of graphology in assessing the counseling needs of deaf individuals. This study employed a qualitative approach to analyze the handwriting samples of deaf participants using graphological techniques. The findings revealed that intensifying and reducing signs in the handwriting of deaf individuals influenced their communication and social interaction abilities. This study highlights the potential of graphology as an alternative assessment tool for understanding the characteristics and conditions of deaf individuals, without relying on oral communication. These results contribute to the field of counseling by providing insights for assessors, such as psychologists and counselors, to develop appropriate interventions and approaches tailored to the unique needs of deaf individuals. Further research is recommended to explore the effectiveness of graphology-based interventions in enhancing communication and social interaction skills of deaf individuals.

AB002. DNA methylation-regulated genes contribute to temozolomide (TMZ) resistance by scaffolding paraspeckle proteins.

Temozolomide (TMZ) resistance in glioblastoma (GBM) remains a challenge in clinical treatment and the mechanism is largely unknown. Emerging evidence shows that epigenetic modifications including DNA methylation and non-coding RNA were involved in diverse biological processes, including therapeutic resistance. However, the underlying mechanisms by which DNA methylation-mediated non-coding RNA regulates TMZ resistance remain poorly characterized. RNA microarray and DNA methylation chips of TMZ-resistant and parental GBM cells were performed for the gain of unreported long non-coding RNA HSD52. Quantitative reverse transcription polymerase chain reaction (PCR) and fluorescence in situ hybridization assays were used to detect HSD52 levels in GBM cells and tissues. The investigation into HSD52's impact on TMZ resistance was conducted utilizing both in vitro assays and intracranial xenograft mouse models. The mechanism of HSD52 expression and its relationships with paraspeckle proteins, non-POU domain-containing octamer-binding protein (NONO) and splicing factor proline/glutamine rich (SFPQ), as well as alpha-thalassemia mental retardation X-linked (ATRX) mRNA were determined by pyrosequencing assay, chromatin immunoprecipitation, chromatin isolation by RNA purification, RNA immunoprecipitation, RNA pulldown, immunofluorescence, and western blot assays. HSD52 was highly expressed in high-grade glioma and TMZ-resistant GBM cells. Phosphorylated p38 mitogen-activated protein kinase (p38 MAPK)/ubiquitin specific peptidase 7 (USP7) axis mediates H3 ubiquitination, impairs the interaction between H3K23ub and DNA methyltransferase 1 (DNMT1) and the recruitment of DNMT1 at the HSD52 promoter to attenuate DNA methylation, which makes the transcription factor 12 (TCF12) more accessible to the promoter region to regulate HSD52 expression. Further analysis showed that HSD52 can serve as a scaffold to promote the interaction between NONO and SFPQ, and then increase the paraspeckle assembly and activate the paraspeckle/ataxia telangiectasia mutated (ATM) kinase pathway in GBM cells. In addition, HSD52 forms an RNA-RNA duplex with ATRX mRNA, and facilitates the association of heteromer of SFPQ and NONO with RNA duplex, thus leading to the increase of ATRX mRNA stability and level. In clinical patients, HSD52 is required for TMZ resistance and GBM recurrence. Our results reveal that HSD52 in GBM could serve as a therapeutic target to overcome TMZ resistance, enhancing the clinical benefits of TMZ chemotherapy.

Occupational Therapy With Clothes Buttons To Improve Fine Motor Skills In Children With Moderate Disabilities At SLB N Slawi

Mental retardation or blindness is a condition of incomplete mental development or general intellectual disorder below average and characterized by impaired developmental skills or more. Fine motor skills are factors that affect growth and development. In children, occupational therapy can improve fine motor skills. The prevalence data at SLB N Slawi shows that the proportion of children with disabilities amounts to 307 students, with the highest score, namely people with disabilities, as many as 259 students who are divided into two types, namely type C and type C1. The purpose of carrying out occupational therapy is to install clothing buttons to improve fine motor skills in children with moderate disabilities. This study was a descriptive research with a case study research design. The study subjects were patients with moderate impairment who experienced fine motor impairment. Data was obtained through interviews, observations, physical examinations, literature studies, and research instruments. This research was carried out in June 2024 at SLB N Slawi, and an ethical feasibility test has been carried out. The results of this study showed that fine motor skills in children with moderate disabilities in wearing buttons per day, which were measured and recorded on the observation sheet, improved. The improvement of fine motor skills is evidenced by the difference in scores in Child F at the beginning of the meeting got a score of 8 and was originally unable to do it, but did it with help, which increased to 15, namely being able to do it independently, and in patient Child N at the beginning of the meeting got 14 points and was originally able to do with the help increased to 16, namely being able to do independently. Patients with fine motor development disorders can be given occupational therapy by buttoning clothes once a day for 15-30 minutes.

Evaluation of home health services provided to children in Batman province

Aims: To evaluate the home health services provided to children in Batman, a province in the Southeastern Anatolia Region of Turkiye, where the birth rate and consanguineous marriages are high. Methods: For this descriptive and cross-sectional study, data from 460 patients aged 0-18 years who received services from the Home Health Unit of Batman Training and Research Hospital between January 10, 2018, and January 10, 2023, were retrospectively scanned through the Hospital Information Management System. Results: 57.6% of the patients were male and 42.4% were female. The mean age of the patients was 10.64±4.5 years; the proportion of patients aged 0-6 years was 20%, 7-12 years was 41.1%, and 13-18 years was 38.9%. Mental retardation was observed in 15%, cerebral palsy in 42.8%, hydrocephalus in 7.8%, epilepsy in 17%, spina bifida/meningocele/meningomyelocele in 4.1%, neuromuscular and motor disorders (paresis/plegia, etc.) in 10.4%, and osteogenesis imperfecta in 3%. While 99.6% of reasons for physician visits were non-emergency, the most common reason for visits by non-physician health personnel was dressing and monitoring of fever, pulse, and blood pressure, at 94.8%. The proportion of patients in need of nursing services was 98.7%; the proportion of patients with pressure sore signs was 87.8%; and the proportion of fully dependent patients was 93.9%. Conclusion: To provide home health services more effectively and efficiently, it is necessary to increase social awareness, improve health literacy to eliminate regional differences, and expand telehealth applications. For better quality service delivery, it is of vital importance to provide periodic training to those engaged in patient care, especially on managing bed sores. In this way, home health services for children can become more accessible and effective.

Long non-coding RNAs — regulators of rubella virus infection and antiviral response

Introduction. Rubella virus is an RNA-containing virus capable of infecting human cells and causing infectious disease. Infection of pregnant women with rubella virus can lead to abortion or congenital rubella syndrome (CRS), a set of long-term birth defects including incomplete fetal organ development and mental retardation. There is no specific treatment for rubella and CRS. The regulation of antiviral immune response and viral reproduction by long non-coding RNAs is currently under active investigation. In this study, we evaluated the changes in the expression profile of long non-coding RNAs in rubella virus-infected A549 epithelial by RNA sequencing. Materials and Methods. A549 cells were infected with a wild-type variant of laboratory strain C-77 of rubella virus with a multiplicity of infection of 1.0 infectious units per cell and incubated for 72 hours. Virus titres were determined by the CCID method in the sensitive RK-13 cell culture. 48 h after infection, the cell monolayer was lysed, RNA was isolated, and libraries were prepared for sequencing. Sequencing was performed on the NextSeq500 platform (Illumina, USA) in paired-end reading mode. Validation of the obtained RNA sequencing data was performed using quantitative real-time PCR. Results. Rubella virus replication affects the production of some long non-coding RNAs by altering their expression profile. Thus, upon infection of A549 epithelial cells with rubella virus, there was a significant increase in the expression of such long non-coding RNAs as GAS5, NEAT1, LUCAT1, MIR210HG, MEG3, EPB41L4A-AS1, ZFAS1, and SNHG 1, 7, 12, 29, 32. DANCR, IGFL2-AS1, IGFL2-AS1, MIR1915HG, and SNHG14 were most significantly decreased in expression. Gene ontology (GO)-analysis revealed that long non-coding RNAs are involved at different levels in the mechanisms of immune response, in particular, RNA processing and nucleic acid metabolism; therefore, up- and down-regulation of these molecules leads to modulation of human antiviral immune response in response to rubella virus infection. Conclusion. Thus, the regulation of long non-coding RNA production by rubella virus has been shown for the first time. Differentially expressed long non-coding RNAs can be used as prognostic and diagnostic biomarkers of viral diseases.

Clinical and epidemiological characteristics of disabling neurological diseases (literature review)

Disabling neurological diseases are accompanied by disturbances in motor activity, sensitivity, cognitive impairment and chronic pain, often reduce the quality of life in its last years and months, cause death, and therefore they are proposed to be considered as palliative diseases. To determine the list of these diseases, we made a selection from the analytical report of the Global Burden of Disease Study for 1990–2010, published in the Lancet journal in 2012. Of 289 disabling diseases, based on the criteria of direct or frequent comorbid damage to the nervous system, the presence of chronic pain, cognitive decline and limitation of motor activity, which are the causes of a significant decrease in the quality of life and work capacity, we chose the following diseases and pathological conditions: malignant neoplasms, AIDS, severe injuries, strokes, demyelinating diseases, epilepsy, depression and suicide, musculoskeletal disorders (neck, lower back pain, arthritis), tension headache, migraine, loss of vision and hearing, dementia of adults, severe and profound mental retardation of children, children’s cerebral palsy, congenital malformations. We studied the trend of increasing or decreasing the burden of selected diseases depending on the number of years lived with disability and analyzed the interpretation of these trends according to literary sources. Special attention in the review was paid to disabling neurological diseases, which are unjustifiably not considered in the health care systems of most countries as palliative: epilepsy, multiple sclerosis and dementia. The clinical and epidemiological characteristics of these diseases were also studied by the bibliosemantic method. The search for literature sources for the review was conducted in PubMed and Google Scholar. It is concluded that the treatment of patients with disabling neurological diseases as palliative patients, with appropriate organizational solutions in national health care systems, will help to improve the quality of life and reduce suffering of both patients and their family members.

Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity

Woodhouse-Sakati syndrome (WSS) is a rare eponymous disease described by Drs. Woodhouse and Sakati in 1983 as a syndrome of hypogonadism, alopecia, diabetes mellitus, intellectual disability, and ECG abnormalities. A couple of years later, a variant in the gene DCAF17 (DDB1 and CUL4-associated factor 17) was labeled as the founder mutation in most cases of WSS in the Arabian Peninsula and the Middle East. Reports around the world started to emerge on variable presentations of the syndrome, expanding its phenotypic spectrum. In addition, the discovery of new variants in the same gene grew our understanding of this multi-systemic syndrome. Genotype and phenotype expansion is increasing with the growing number of diagnosed cases owing to the availability and advances in clinical genetic testing. This review describes the current understanding of the DCAF17 gene with its molecular implication in WSS. We also provide an extensive analysis of the documented genetic changes associated with the syndrome, describing the geographical prevalence of these genetic variations. Additionally, we examine the disorder’s extensive manifestations and clinical presentations and describe a case of intra-familial phenotypic heterogeneity.

Agenecy of the corposion callosum: report of a clinical case

The agenesis of the corpus callosum (ACC) supposes an interhemispheric disconnection due to lack of formation of said structure in the embryonic development. Prevalence: 0.3-0.5% in the general population and 2.3% in people with disabilities. It is associated with prematurity and advanced maternal age. Agenesis of the corpus callosum is a malformation that can occur in isolation or in association with other systemic or central nervous system disorders and is one of the most common malformations in the brain, with an estimated prevalence of 1 in 4,000 live births. Among the most common clinical findings are mental retardation, visual problems, and seizures. Prenatal diagnosis can be made by ultrasound and magnetic resonance imaging from the 20th week of gestation. Postnatal diagnosis can be made by ultrasound, computed tomography, and magnetic resonance imaging. Currently, there is no specific treatment, although it has been proposed to start an early stimulation program and, if possible, a psychomotor rehabilitation program that offers improvement in motor and learning disorders.

Pengembangan Media Interactive Assisted Learning (IVAL) dalam Mata Kuliah Asesmen untuk Mahasiswa Tunagrahita Ringan

The development of an innovative interactive assisted learning (IVAL) model for mildly mentally retarded students is an effort to create solutions related to the need for digital-based media to stimulate mildly mentally retarded students in assisting the learning process, in this context, in early childhood learning assessment courses at the PG-PAUD STKIP Muhammadiyah Kuningan. In fact, it has not used digital media to help students with special needs due to limited innovation of digital-based media. Through the research and development process carried out, the results of this research creates an android application entitled "Interactive Assisted Learning (IVAL) which is suitable to be applied as a learning medium for students with special needs and mild mental retardation to stimulate students in receiving, processing and storing information in brain memory. The feasibility of IVAL media is proven from the validation results of software engineering experts 73.3%, media experts 80.8% and PAUD lecturer practitioners 71.4%. The evidence of effectiveness is proven from the results of trials in the PG-PAUD Study Program which shows that the ability of students with special needs mild mental retardation is up to 90.3% with a gain score of 0.70 in the medium category and in class of assessment subjects, it is increased to 90.1% with a gain score of 0.70 in the medium category.

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome

BackgroundTCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental retardation, certain features of facial dysmorphism and, in many cases, with abnormalities in respiratory rhythm (episodes of paroxysmal tachypnea and hyperventilation, followed by apnea and cyanosis). Frequently, patients also develop epilepsy, microcephaly, and postnatal short stature. Although TCF4 is expressed in skeletal muscle and TCF4 seems to play a role in myogenesis as demonstrated in mice, potential myopathological findings taking place upon the presence of dominant TCF4 variants are thus far not described in human skeletal muscle.MethodTo address the pathological effect of a novel deletion affecting exons 15 and 16 of TCF4 on skeletal muscle, histological and immunofluorescence studies were carried out on a quadriceps biopsy in addition to targeted transcript studies and global proteomic profiling.ResultsWe report on muscle biopsy findings from a Pitt-Hopkins patient with a novel heterozygous deletion spanning exon 15 and 16 presenting with neuromuscular symptoms. Microscopic characterization of the muscle biopsy revealed moderate fiber type I predominance, imbalance in the proportion of fibroblasts co-expressing Vimentin and CD90, and indicate activation of the complement cascade in TCF4-mutant muscle. Protein dysregulations were unraveled by proteomic profiling. Transcript studies confirmed a mitochondrial vulnerability in muscle and confirmed reduced TCF4 expression.ConclusionOur combined findings, for the first time, unveil myopathological changes as phenotypical association of Pitt-Hopkins syndrome and thus expand the current clinical knowledge of the disease as well as support data obtained on skeletal muscle of a mouse model.

Partial Atrioventricular Septal Defect in a Case of Bardet-Biedl Syndrome: A Rare Association

Bardet-Biedl syndrome (BBS) (MIM 209900) is a genetic disorder with a wide spectrum of clinical manifestations including retinal dystrophy, hypogenitalism, polydactyly, obesity, renal abnormalities and mental retardation. We describe a 13-year-old girl, a known case of Bardet-Biedl syndrome, who was going to undergo hysterectomy due to hydrometrocolpous. She was homozygous autosomal recessive for gene BS57. She was obese and had impaired vision, renal abnormality, borderline intelligence, recurrent urinary tract infection, menstrual problems, normal secondary sex chrematistics and corrected polydactylies. She had also big nose, thin upper lip, slightly everted lower lip, small mouth and retrognathia. Her electrocardiography showed incomplete right bundle branch block. We identified atrioventricular septal defect (AVSD). In conclusion, physicians who deal with cases who suffered from Bardet-Biedl syndrome, should be vigilant about seeking for identification of cardiac anomalies such as partial AVSD. This leads to earlier identification of the existing cardiovascular disease which facilitates appliance of curative measures.

Comparative analysis of the clinical and social characteristics of persons with organic mental disorders suffering from mental retardation who have repeatedly committed socially dangerous acts

BACKGROUND: The study of various characteristics of mentally ill persons suffering from mental disorders that influence the possibility of committing a repeated socially dangerous act. This has been one of the most urgent tasks of forensic psychiatry in recent years. The identification of such factors will significantly improve the secondary prevention of crime among the mentally ill. AIM: The purpose of the study — a comparative analysis of clinical and social characteristics in patients with mental retardation and organic psychological disorders (hereinafter referred to as DIS) who have repeatedly committed socially dangerous acts (hereafter referred to as DIS) and the identification of factors specific to patients with mental retardation that contribute to the commission of repeated DIS. Design: comparative study. MATERIALS AND METHODS: The comparative study included 65 patients diagnosed with mild and moderate mental retardation (who made up the main group A) and 45 patients with organic mental disorders (who made up the comparative group B) had repeatedly committed socially dangerous acts (OOD), who had been recognised as insane and who had undergone two or more periods of court-ordered compulsory medical treatment (hereafter referred to as MMMT) of various types. The study was carried out both in the form of a personal questionnaire and through a retrospective study of the patients' medical records. Correlation and comparative analysis were the main research methods used in the thesis. RESULTS: A number of clinical and social characteristics such as: hereditary burden of exogenous diseases (r +0.58, pi 0.05); single lifestyle (r +0.33, pi 0.05); urban place of residence (r +0.21, pi 0.05) increase the risk of repeated OOD, and are specific predictors for patients with mental retardation. A number of characteristics had a negative impact on the possibility of repeated OOD and negative correlations: the absence of any hereditary burden (r –0.44, pi 0.05), the presence of severe endogenous heredity (r –0.35, pi 0.05), living in rural areas (r –0.21, pi 0.05), concomitant alcohol dependence (r –0.29, pi 0.05). CONCLUSION: The data obtained will form the basis for the development of practical recommendations for secondary forensic psychiatric prevention, specifically for this nosological group, as well as methods for predicting and preventing recurrent DIS.