Moderate Mental Retardation Research Articles

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.

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.

Preparation of Non Locomotor Basic Movement Assessment Instruments for Class III Moderate Mentally Retarded Children at SLB Negeri Luragung Kuningan

Assessment is an access used to determine the abilities, difficulties and needs of a child which is then used as a reference to develop an appropriate learning program. A teacher, especially a teacher who handles children with special needs, is required to be able to compile assessment instruments that are suitable for the children he handles. The purpose of this study was to develop a non-locomotor basic motion assessment instrument for class III moderate mental retardation child at SDLB SLB Negeri Luragung. Non-locomotor basic movements are used in learning activities usually in warming up or cooling down during sports that contain motion patterns such as bending, twisting, swinging and bending. This study used a qualitative approach and descriptive method. The data in this study were obtained from observations, interviews, FGDs, and validation. The results of observations made by research to three grade III moderate mental retardation child show that children experience obstacles in gross motor non-locomotor basic movements such as in sports lessons during warm-ups the child looks stiff and less able to maintain body balance so as not to fall, while in daily activities maintaining body balance while doing activities in place is very necessary. Therefore, researchers are interested in compiling a non-locomotor basic motion assessment instrument for grade III moderate disability children to find out more about what the child's difficulties are in basic non-locomotor movements, then the results of the assessment instruments that have been prepared are validated to determine readability and applicability.

ANALYSIS OF SCHOOL CURRICULA IN TERMS OF REFLECTION ON THE DEVELOPMENT OF SELF-CARE SKILLS TO MENTALLY RETARDED SCHOOL CHILDREN

A focus on self-care skills fosters an environment where all children, regardless of ability, can participate and contribute to the classroom community. The formation and development of self-care skills for children with mental retardation during school years is an important and integral part of the overall system of preparing them for study in inclusive settings, independent life and work to the possible extent.
 At the same time, literature data, work experience of teachers and special educators working in inclusive schools, as well as our observations show that for children with mental retardation, especially in the lower grades, the acquisition of theoretical knowledge and practical skills and self-care skills in various types of daily activities (game, educational, work, etc.) presents significant difficulties. The possession of these skills is important for these children not only during school but also after graduation.
 The significance of the problem under study also increases because today in Armenia the shift to inclusive education is a reality and children with various needs study together. This requires children's independence, sufficient social behavior skills, spatial orientation skills, high-quality performance and many other self-care skills in a wide variety of areas of activity. The level of development of these skills largely determines the success of inclusion and adaptation of these children among their classmates.
 Considering the above mentioned, it becomes important to study and analyze school curricula for various disciplines in grades I-IV in terms of how they reflect issues of education and the development of self-care skills for children with mild and moderate mental retardation. This will help to clarify the positive and negative aspects of these programs, the degree of their direct or indirect connection with the issues of developing self-service skills in these children, and to develop appropriate proposals for their improvement.

Development of Speech Communication of Senior Preschool Children: Application of Correctional and Developmental Pedagogical Technologies in Moderate and Severe Mental Retardation

Introduction. The article discusses correctional-developmental pedagogical technologies for the development of speech communication through the prism of speech pathology correction in preschool children with severe and moderate mental retardation. The following methods are described: fairy tale therapy, theatrical activities, mnemotechniques, logorhythmics, and computer technologies.Purpose. The study examines the components of speech communication in preschool-aged children with moderate and severe mental retardation using pedagogical technologies such as logorhythmics, theatrical activities, and computer technologies.Materials and Methods. A study was conducted involving 10 preschool-aged children with moderate and severe mental retardation attending a combined-type kindergarten. The study aimed to assess the development of the motivational, semantic, linguistic, and sensorimotor components of speech communication. Pedagogical technologies such as logorhythmics, theatrical activities, and computer technologies (developing games) were used to evaluate the manifestation of speech communication components in preschool-aged children with moderate and severe mental retardation.Results. The study involved 10 children (6 boys and 4 girls) aged 5–6 years with severe or moderate mental retardation. A confirmatory experiment was conducted to assess the semantic, linguistic, sensorimotor, and motivational components of speech communication in this group of manifestation. The study allowed us to determine that the most preserved components of speech communication in the participants of the experiment are sensorimotor and motivational, while the semantic and linguistic components of speech communication are poorly developed.Discussion. The data obtained in our study is in line with the findings of other researchers who have who have used the information and communication technologies in correctional speech therapy. The authors also emphasize the role of dialogic communication between a child and a teacher in speech development, which we have implemented at all stages of the confirmatory experiment. The results obtained are applied in correctional and developmental work.

Memorizing Hijaiyah Letters for Children with Moderate Mental Retardation Using VAKT-Based Media

This research aims to develop VAKT-based learning media (Visual, Audio, Kinesthetic, Tactile) for hijaiyah letters memorization of children with a moderate level of mental retardation. The research was conducted at Putera Asih Special School (SLB) Kediri. The method used was Research and Development (R&D) combined with the ADDIE model. However, this research only reached the design stage. The data were collected using interviews, observation, and questionnaires. Based on the assessment by media experts, the videos, flashcards, and plasticine developed were very feasible to use, with an average of 90,4%. Also, the material experts stated that the material in the VAKT was very suitable for use at 85%. In addition, the result of the media acceptance questionnaire calculation reached 85%. It means that the VAKT-based learning media was very suitable for use by children with moderate mental retardation to memorize hijaiyah letters at Putera Asih Special School.

Comparative Effects of Core Stability Exercises and Retro-walk on Balance and Coordination in Down Syndrome

Background: Individuals with Down syndrome (DS) often face motor deficits impacting balance and coordination. While core stability exercises are a recognized form of intervention, the potential benefits of Retro walking require further exploration. Objective: To evaluate and compare the effects of core stability exercises and Retro walking on balance and coordination in individuals with DS. Methods: This randomized clinical trial included 24 participants with a confirmed diagnosis of DS, aged 8-14 years, and with mild to moderate mental retardation. They were allocated into two groups: Group A, receiving core stability exercises, and Group B, undergoing Retro walking, both over an 8-week period. Inclusion criteria were the ability to stand and walk with a Pediatric Balance Scale (PBS) score of at least 14/56. Exclusion criteria encompassed any orthopedic, cardiac, or uncontrolled cardiovascular conditions. Assessments were conducted using the PBS and Foot Tapping Test, pre- and post-intervention. Data analysis was performed using SPSS version 25.0, employing paired and independent t-tests. Results: Post-intervention, Group A exhibited an increase in PBS scores from 15.83±2.406 to 32.17±2.209 (p < .001), and Group B from 15.08±2.999 to 31.25±1.913 (p < .001). Foot Tapping Test scores for the right side improved from 9.92±1.311 to 20.17±2.082 in Group A (p < .002), and from 9.67±1.614 to 18.08±2.610 in Group B (p < .003). Conclusion: Both core stability exercises and Retro walking significantly improved balance and coordination in children with DS. These modalities should be considered valuable additions to the therapeutic interventions for this population.

CHARACTERISTICS OF GAME ACTIVITY ORGANIZATION AND ITS INFLUENCE ON SPEECH DEVELOPMENT OF CHILDREN WITH MODERATE MENTAL RETARDATION

This research aimed to explore the organizational features of play activities of children with moderate mental retardation and its impact on their speech development. The studies were conducted among 144 children with moderate mental retardation aged 7–18-year-old living in specialized orphanages and 40 educators.
 The research methodology was based on the combination of qualitative and quantitative methods including observation, conversation, interview, and validating scientific experiments for data collection. The use of selected data collection methods helped to observe the general activities of children and to obtain data on the specifics of their play activities both from children and the educators working with them.
 As a result of validating scientific experiments, patterns of play activities of children with moderate mental retardation, and their playing abilities were recorded, and the most frequently used games and their influence on the development of children were revealed. The regulation of the day, the time allotted for games during educational and speech development classes, the setting, and the reasons related to application features were also exposed. The results of the study stated, that in the list of games used during remedial and speech development activities in a specialized orphanage, such as verbal, staged, role-playing, speech therapy games and motion games were almost absent.
 In 5 out of 15 studied groups, 2-3 game exercises of speech therapy were used, about the same number of sports exercises and word games. It was also recorded that the tutor spent approximately 33% of the game time (1 hour) explaining each game, 17% on individual work, 28% on correcting mistakes and other corrective work, and on the game itself, it was used only 22% of the time which negatively affected the effectiveness of using games. It has been found that in insufficient conditions of the organization of game activities, the effectiveness of corrective educational work decreased, and the development of speech was delayed.

Comparative analysis of the effectiveness of isotherapy in the rehabilitation of children with intellectual disabilities

Art therapy technologies are widely used in educational, rehabilitation and social institutions. It is believed that the use of various methods of art therapy helps children and adolescents with disabilities to integrate into educational and rehabilitation processes. In the special and psychological-pedagogical literature, a wealth of material has been accumulated about the adaptive, corrective and therapeutic effects of art-therapeutic technologies, where the creative nature of the process of interaction between the psychologist and the wards serves as the basis. One of the most common and available methods of art therapy can be called isotherapy. The special literature emphasizes the effectiveness of isotherapy in the correction of the perceptual and emotional-volitional sphere, promotes the development of higher mental functions. This article presents the experience of monitoring the dynamics of mental activity of children with varying degrees of intellectual disability during rehabilitation, where one of the psychological and pedagogical influences was isotherapy. Research methods: observation maps for children with disabilities during isotherapy classes. The questions of the observation map are compiled on the basis of a three-level rehabilitation program using the method of isotherapy. To identify the links between the indicators of mental activity of the subjects, the r-Pearson correlation coefficient was used. In order to determine the effectiveness of isotherapy, Wilcoxon’s W-test is used. Results of the study a comparative analysis of the effectiveness of isotherapy in three different groups of children with disabilities is presented. The most noticeable positive changes are observed in the samples of children with moderate and mild mental retardation. For a group of children with severe intellectual and psychophysical disabilities, isotherapy classes help to pull some children up to an average level. The lack of positive dynamics in children of this group lies in the peculiarities of sensorimotor activity disorders, weak or almost absent differentiation of mental processes. Imagination deserves special attention in isotherapy classes, the study of which in children with intellectual disabilities is relevant in modern correctional psychology.

Clinical observation of genetically confirmed Kabuki syndrome type 1, with an undetermined type of inheritance, in a 7-year-old child

Kabuki syndrome is a rare hereditary disease that has a specific clinical picture: facial features, growth retardation, muscular hypotonia, skeletal abnormalities, dermatoglyphic abnormalities, mild to moderate mental retardation, and postnatal growth deficiency. Kabuki syndrome (Kabuki mask syndrome / Kabuki makeup syndrome) got its name for the specific features of the appearance of patients who have a facial expression similar to a special makeup that highlights the eyes and eyebrows of the characters of the Japanese Kabuki theater. The main reasons for the development of Kabuki syndrome in 75% are mutations in the KMT2D gene (KS type 1) and in 5% are mutations in the KDM6A gene (Kabuki syndrome type 2), the etiology of about 20% of cases remains unknown. Most mutations in type 1 Kabuki syndrome are formed de novo, and cases of autosomal dominant inheritance have also been described. Type 2 Kabuki syndrome has sex-linked (X-linked) inheritance. Because Kabuki syndrome is a low-prevalence, multisystem disease, patients require a variety of diagnostic and screening tests with multidisciplinary evaluation of outcomes at different stages of their lives. Early diagnosis of the disease is crucial for timely treatment and rehabilitation measures and improving the prognosis and quality of life of the child. The interest of the presented clinical observation of Kabuki syndrome lies in the importance of early recognition of clinical manifestations, timely surgical treatment, hearing rehabilitation and improving the prognosis of the patients life. The article describes a clinical observation, genetically confirmed type 1 Kabuki syndrome, in a child born in 2015 (type of inheritance not established). The interest of the presented clinical observation of Kabuki syndrome, manifested by characteristic facial features, skeletal anomalies, postnatal growth retardation, dermatoglyphic anomalies, intellectual retardation, lies in the need for a multidisciplinary approach to the diagnosis and treatment of the patient.

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary osteodystrophy. Unawareness of this rare disease leads to delays in diagnosis. The aims of this study were to describe the clinical and molecular characteristics of patients with genetically confirmed GNAS mutations and to evaluate their long-term outcomes. A retrospective search for all patients diagnosed with PHPIA in 2 referral centers in Israel was conducted. Nine children (8 females) belonging to 6 families were included in the study. Five patients had GNAS missense mutations, 2 had deletions, and 2 had frameshift mutations. Four mutations were novel. Patients were referred at a mean age of 2.4 years due to congenital hypothyroidism (5 patients), short stature (2 patients), or obesity (2 patients), with a follow-up duration of up to 20 years. Early obesity was observed in the majority of patients. Elevated parathyroid hormone was documented at a mean age of 3 years; however, hypocalcemia became evident at a mean age of 5.9 years, about 3 years later. All subjects were diagnosed with mild to moderate mental retardation. Female adult height was very short (mean -2.5 SD) and 5 females had primary or secondary amenorrhea. Long-term follow-up of newborns with a combination of congenital hypothyroidism, early-onset obesity, and minor dysmorphic features associated with PHPIA is warranted and molecular analysis is recommended since the complete clinical phenotype may develop a long time after initial presentation.

Anterior segment indices in mentally retarded children

To compare the anterior segment indices between mentally retarded and normal children. The current study was conducted as a cohort. In this study, 73 mentally retarded and 76 normal children were selected from normal school and special schools for mentally retarded children using random cluster sampling method. Mental retardation in children was confirmed by a psychologist. Optometry examinations including visual acuity and refraction were performed for all participants, and ultimately, corneal imaging measurements were taken by Pentacam. The mean age of mentally retarded and normal children was of 13.30 ± 1.83 and 13.05 ± 1.82 years, respectively (P = 0.180). A multiple generalized estimating equations model demonstrated that there is a significant association between central corneal thickness (CCT) (coef = 1.011, P < 0.001), corneal diameter (CD) (coef = 0.444, P = 0.046), anterior chamber depth (ACD) (coef = 0.23), P < 0.001) and index of vertical asymmetry (IVA) (coef = 0.12, P < 0.001) and mental retardation. Cerebral palsy children had higher keratoconus index (KI), central keratoconus index (CKI), index of height asymmetry(IHA), and index of height decentration (IHD) compared to those without cerebral palsy (P < 0.05). Children with moderate mental retardation had higher index of surface variance (ISV), IVA, IHA, and IHD than those with mild mental retardation (P < 0.05). The mean and standard deviation of CCT, CD, ACD and IVA index in mentally retarded children were 535.3 ± 46.68 micron, 11.87 ± 0.42 mm, 3.29 ± 0.24 mm and 0.25 ± 0.18 mm, respectively. These indices in the normal group were 525.53 ± 47.52 micron, 11.84 ± 0.38 mm, 3.15 ± 0.28 mm and 0.17 ± 0.05 mm, respectively. The findings of this study showed that some anterior segment indices were different in mentally retarded compared to normal children. Moreover, some keratoconus indicators were worse in cerebral palsy children and children with higher grade mental retardation. So, it is important to consider keratoconus screening in these children.

Penerapan Flashcard Berbasis Karakter Flora dan Fauna Untuk Meningkatkan Kemampuan Mengenal Huruf Peserta Didik Tunagrahita Sedang SLB Siswa Budhi

This study aims to describe the learning outcomes of students who are taught using flashcard learning media for students of SLB Siswa Budhi and to find out whether there are differences in learning outcomes for students who are taught before and after being taught using flashcard learning media based on flora and fauna. The ability to read and recognize children's letters is influenced by the learning media used. This can be seen from the application of flashcard learning media. Data was collected from three students of SLB Siswa Budhi. This research is a descriptive qualitative research. At the data collection stage, the researcher used the listening method and experimental research, the listening method was listening to the children's speech which they obtained before and after the application of flashcard learning media. Therefore this research concerns the application of flora and fauna character-based flashcards to improve the ability to recognize letters of moderately mentally retarded students. This research resulted that the application of flashcard learning media is good and appropriate to be used as a learning medium because it can improve the ability to read and recognize letters of students with moderate mental retardation.

Cognitive Status In Thalassemia

Background: Thalassemia is one of the most common chronic and genetic hematological disorder. This chronic disease challenges the individual at the physical, emotional, cognitive level and disrupts the quality of life because of persistent anemia and hypoxia. The aim of study is to assess the cognitive status in thalassemia.&#x0D; Material and methods: This is a cross-sectional observational type of study that was performed in Autism and Child Development Center of Chattagram Maa Shishu–O–General Hospital. Children aged 6 to 16 years with thalassemia of different catagories were enrolled as study subjects. Study period was six months. Cognitive status of this study subject was assessed by WICS-IV equipment.&#x0D; Results: Among the 50 study subjects, Hb E b thalassemia was the most common type of thalassemia 39(78%). 2(4%) patient took oral chelating agent, 18 (36%) were under injectable, 20(40%) were found taking both oral and injectable and 10(20%) were observed not under any iron chelation therapy. Regular iron chelation therapy was found in 22(44%) cases.10(20%) cases had normal intelligence,19(38%) cases had mild mental retardation and 21 (42%) had moderate mental retardation. Among the 10 patients who do not use any chelation therapy,8(80%) patients had moderate retardation and 2(20%) had mild mental retardation. On the other hand, among the 40 patients who were having iron chelation therapy, 10(25%) patients showed normal level of intelligence, 17(42.5%) had mild mental retardation and 13(32.5%) had moderate mental retardation. In different score of WISC-IV, it was found that working memory and processing speed were poorer than verbal comprehension and perceptual reasoning in different type of thalassemia. This study also showed poor cognition is more prominent in thalassemia major and Hb E beta thalassemia.&#x0D; Conclusion: Cognitive status of the study subjects who take regular iron chelation therapy is much better than those who do not take iron chelation therapy. Hence, iron chelation therapy is proved to have better cognitive outcome for thalassemia patients with iron overload.&#x0D; Chatt Maa Shi Hosp Med Coll J; Vol.22 (1); January 2023; Page 57-61

The results of changing the social and educational route of children diagnosed with moderate mental retardation and lived in stationary social services institutions

The aim of the work was to analyze the results of the correction of the social and educational rote of children, diagnosed with moderate mental retardation, receiving social services in stationary institutions for mentally disabled children. At the first stage, as a result of a continuous personal examination of 621 children living in three stationary social service institutions for children with mental disorders, 134 children were identified who presumably needed to clarify the diagnosis and change the educational and social route. At the second stage, in order to clarify the diagnosis and the educational route, a commission psychological, medical and pedagogical examination of 48 children was carried out. In 45 cases the IQ, assessed by Wechsler test, did not correspond to the diadnosis: in 24 cases the IQ was in the interval, corresponding to mild intellectual disability (50-69 points), in 21 cases IQ was above 70 points. As a result of the second stage, 26 children were transferred from a stationary social service organization for children with mental disorders to children’s homes in the education system, where they began training in adapted educational programs at a higher level. At the third stage of the study, the results of adaptation of 21 children were analyzed. It is shown that the main difficulties in the adaptation of children were not associated with the degree of intellectual impairment, but with the difficulties of transferring to an educational program of a higher level, the severity of emotional-volitional and behavioral disorders, communication disorders. It is concluded that the success of the correction of the social and educational route of children depends on the readiness of employees of educational and educational institutions to carry out rehabilitation work, the quality of psychiatric care.

KLASTERISASI SISWA PENYANDANG DISABILITAS BERDASARKAN TINGKAT TUNAGRAHITA MENGGUNAKAN ALGORITMA K-MEANS

ABSTRACT:SLB Negeri 1 Bengkulu City is one of the special schools in Bengkulu City that provides educational facilities for children with special needs with mental retardation so that they can get a proper education in teaching and learning process. In the class placement of students in schools, mental retardation is divided into 2 levels, namely mild and moderate by observing by looking at the IQ scores of students and the academic scores obtained. This is necessary, so that the teaching and learning process becomes more efficient and effective. However, sometimes the school has difficulty in determining class placement for students with special needs for mental retardation, because there is no application that can help grouping the student data. Application for clustering students with mental retardation at SLB Negeri 1 Bengkulu City by applying K-Means algorithm. This application is made using Visual Basic.Net programming language and SQL Server database. Based on the student clustering that has been carried out based on a data sample of 73 students using the application, the results obtained information that 47.9% of the Cluster 1 group (mild mental retardation level) and 37% of the Cluster 2 group (moderate mental retardation level) and 15.1% of the Cluster 3 group (severe mental retardation level) from the calculation of the Euclidean distance value by taking the closest distance&#x0D;

USING THE GAME APPROACHES FOR DEVELOPING THE SPEECH OF CHILDREN WITH MODERATE MENTAL RETARDATION

The aim of the study was to explore the role of game-based approaches for developing speech in children with moderate mental retardation. More than 40 scientific journals, articles, and educational materials were analyzed in pedagogical and psychological fields to explore the advantages and challenges of using game-based approaches in the process of developing the speech of children with moderate mental retardation. A literature review methodology was used for collecting and synthesizing the existing scientific theoretical bases of game-based approaches for developing speech of children with moderate mental retardation since this research method created a firm foundation for advancing knowledge and facilitating theory development (Webster &amp; Watson, 2002). The use of the literature review method helped the author learn about the history and nature of the selected topic, and identify research gaps and problems, so the results of a literature review may be presented as an entire report or article (Torracro, 2005). The current study results have shown that the effectiveness of communication skills and speech formation and development of children with moderate mental retardation was based on the approach of gradually involving children in verbal communication through play activities. As well as the specification and elaboration of the content and tools of game activities provide such pedagogical conditions, which contributed to the expansion of children's communication field, the activation of preserved opportunities, and the demand for verbal communication.

A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance

Coffin-Lowry syndrome (CLS), usually a result of loss-of-function mutations in the RPS6KA3 gene located at Xp22.2, is a very rare genetic condition. It is associated with different phenotypes, including dysmorphic facial features, neuro-developmental impairment, short stature, and skeletal deformities. Here we describe a four-year-old boy who had distinct clinical features of CLS: moderate mental and motor retardation, brachycephaly, microcephaly, hypertelorism, low-set and prominent ears, down- slanted palpebral fissures, a depressed nasal bridge with thick nasal alae and septum, a high-arched palate, widely spaced teeth, and retrognathia. Genetic analysis revealed a pathogenic variant in the RPS6KA3 gene, NM_004586.3: exon 22: c.2186G&gt;A: (p.Arg729Gln). His healthy mother was a heterozygous carrier of the variant. In addition to the clinical findings, the patient’s X-ray revealed a very rare feature of a copper-beaten skull appearance. The link between CLS and a copper-beaten skull has never been reported before. This case demonstrates the variability in presentation of CLS and signifies the association of a rare radiographic finding of copper-beaten skull with CLS. Based on this case, we recommend screening skull radiographs at the clinic for copper-beaten skulls in patients with CLS.

Relationship Between Mother's Knowledge And Independence Medium Mentally Retarded Child

Introductions: The abilities possessed by mentally retarded children are not the same as the independent abilities possessed by normal children. Even so, it is important for mentally retarded children to carry out an activity on their own so as to reduce dependency and assistance and be able to live independently in the future. Family knowledge greatly influences efforts to increase the independence of moderately mentally retarded children. The purpose of this study was to determine the relationship between mothers' knowledge and the independence of moderately mentally retarded children at Ciamis State SLB. Aims: To determine the relationship between mothers' knowledge and the independence of moderately mentally retarded children Methods: The research design is a case-control with a retrospective approach. The population is mothers who have moderately mentally retarded children in Ciamis State SLB as many as 38 people. The sampling method uses the total population technique with regard to exclusion and inclusion criteria. The tool used is the form of a questionnaire made by the researcher himself.Results: The results show that the highest knowledge is in the excellent category, namely 24 people (63.2%), the independence of mentally retarded children, while the highest frequency is in the independent type, namely 23 people (60.5%) with a proven odds ratio (OR) value of 9,500, which means knowledge Greater mothers have children's independence in the independent category.Conclusions: there is a significant relationship between mothers' knowledge and independence of children with moderate mental retardation because the ρ value &lt;α (0.002 &lt;0.05). It is recommended to increase knowledge through counselling, discussion, or training about the right age to start training children with moderate mental retardation so that children are able to be independent.

“Dental Health” preventive program as a stage of rehabilitating children with cognitive developmental disabilities

Relevance. One of the paramount directions of preventive dentistry is the development of the author's methods of organization and implementation of dental diseases prevention programs in children with cognitive developmental disabilities, allowing for prevention customization, taking into account the features of child development with disabilities, as well as the combination of many objective factors. The study aimed to increase the efficiency of mentally-retarded children's rehabilitation by improving the dental disease prevention program.Materials and methods. The study involved 140 children diagnosed with moderate mental retardation and comparatively analyzed two methods over three years. Group 1 included 71 subjects aged 8-11 years trained according to "Dental Health", the author's dental and hygiene education program, developed and adjusted to the psychophysical needs of the child development. Group 2 consisted of 69 subjects, trained according to the dental and hygiene education program provided only by the teachers during classes on household chores. We evaluated the effectiveness of the "Dental Health" prevention program introduced into the specialized educational process by the following indices DMFT, simplified oral hygiene index (OHI-S); PMA index modified by Parma assessed the condition of the gums. Statistical data were processed using the IBM SPSS Statistics 18.0 application sof tware package.Results. The effectiveness analysis of the author's program for children with moderate mental retardation revealed that the level of oral hygiene in the children increased from "poor" to "good" (2.1 ± 0.3 points to good 0.2 ± 0.1 points); gingival inflammation decreased from 24.6 ± 0.5% to 14.4 ± 0.2%. Classes on dental education and hygiene training helped children with cognitive developmental disabilities to orient better in self, time and place; helped to improve memory, increase vocabulary, form new knowledge and skills, and gradually form effective communication based on the child's intellectual deficiency severity.Conclusions. The developed educational program "Dental Health" for dental diseases primary prevention in children with cognitive developmental disabilities allowed the formation of stable oral care skills, proved by a good score of oral hygiene indices.