Variations in Perceptions of Well-Being within Families of Youths with Intellectual Disabilities in Saudi Arabia.

This study investigates the family well-being among Saudi Arabian families with youth who have an intellectual disability. A sample of 148 family members, including parents and other relatives, was surveyed on emotional well-being, family interactions, and parenting. This study aimed to explore the unique challenges and dynamics within these families, providing insights into how an intellectual disability in a youth affects the family unit. The research highlights a gap in understanding the specific impacts of intellectual disability on family life in the Saudi context. Key findings include variations in family quality of life perceptions among different family members, with fathers showing distinct levels of satisfaction. This study contributes to the development of culturally sensitive support strategies and policies, emphasizing the need for targeted interventions to enhance the well-being of these families in Saudi Arabia.

Families of Children with Intellectual and Developmental Disabilities: Variables Associated with Family Quality of Life.

Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the predictors of family quality of life (FQOL) is crucial for developing effective support systems and interventions. AIM: This study investigated the predictors that might influence the perception of families having a member with a disability regarding their quality of life (FQOL). METHOD: The sample consisted of 320 family members from the Riyadh region of Saudi Arabia. RESULTS: The overall results showed that participants' satisfaction with FQOL was at a moderate level. Further results indicated that variables associated with severity, type of disability, and the mother's age and education were significant predictors of the FQOL. CONCLUSIONS: These results emphasize the importance of considering the variables that impact FQOL, such as the severity and type of disability, and mother's related variables, when directing support to families with a member with a disability. The recommendations and limitations of the study were discussed.

Listening to the voices of adolescents with intellectual disabilities: Exploring perception of post-school transition.

BACKGROUND: Life skills play a key role in the transition of a child with intellectual disabilities into a young adult. According to previous research, students with intellectual disabilities often lack such skills. However, most studies on this topic have been conducted on teachers or parents. Limited studies are available on adolescents with intellectual disabilities. Therefore, this study investigates how adolescents with disabilities perceive their competence in life skills post-school. METHOD: The sample consisted of 201 adolescents with disabilities (67 % with mild intellectual disabilities and 33 % with other disabilities). RESULTS: The results revealed that adolescents with intellectual disabilities' perception of their life skills in all areas (independent living, personal money management, community involvement and usage, leisure activities, health, and social/interpersonal relationships) was significantly lower compared to adolescents with other disabilities. In four out of the six sub-scales, female respondents reported that their competence level in life skills was lower compared to males. In addition, adolescents with disabilities in daycare centers stated that they could establish better social and personal relationships when compared to adolescents from other schools.

Enhancing special education programs' curricula for students with intellectual disabilities in saudi arabia: A call for personalized approaches and inclusive practices.

BACKGROUND/AIMS: In Saudi Arabia, students with intellectual disabilities (ID) receive some of their education through textbooks. However, using textbooks with students with ID contradicts the principles of providing services based on individuals with ID needs personalized plans to develop their individual abilities. This study aimed to investigate family and teacher perceptions of middle and high school curricula for students with ID in Saudi Arabia. This study focused specifically on the extent to which these curricula contribute to the development of academic and life skills among these students. METHOD AND PROCEDURE: A 21-item scale was used to measure the perceptions of family members and teachers of individuals with intellectual disability. The scale validity and reliability were examined and supported. The sample comprised of 113 family members and 111 teachers of students with ID. OUTCOMES AND RESULTS: Family members and teachers both expressed low satisfaction regarding the improvement in academic and life skills of students as a result of the current curricular in the surveyed programs. Additionally, they conveyed dissatisfaction with the overall outcomes of services provided for individuals with intellectual disabilities. CONCLUSIONS AND IMPLICATIONS: This study highlights the inadequacies of a one-size-fits-all approach to designing curricula for students with ID. There is a need to improve and enhance curriculum content to meet the diverse learning needs of these individuals.

Validation of the Arabic Version of the Transition Planning Inventory (TPI-AR).

The Transition Planning Inventory (TPI) is an important tool for planning the transition to life after school for students with disabilities. While interest in transition services has increased in the last decade in the Arab region, no transition assessment tools validated for the Arab population are currently available. This study is the first to validate an Arabic version (TPI-AR) for all three rating forms (student, home, and school) and examine its psychometric properties. The sample comprised 203 students with disabilities, a member of their family, and one of their teachers. The 11 subscales of TPI-AR for all three forms were found reliable and valid to be used with students with disabilities in Saudi Arabia, particularly in middle and high schools.

Measuring Family Quality of Life: Scoping Review of the Available Scales and Future Directions.

The lack of quality of life is a key issue for families with children with an intellectual disability. While the quality of life for people with disabilities has previously been researched as an individual variable, this has now shifted to include family members. The purpose of this study was to conduct a review of the studies measuring the quality of life of families with an intellectually disabled member, in order to identify the most commonly used scales and their psychometric properties. METHOD: Data were collected from six databases (ERIC, Web of Science, Scopus, CINAHL, MedLine, and Google Scholar), and this search yielded 3948 studies. One hundred and twenty studies that met the inclusion criteria were included in this study. RESULTS: Nine scales were used in the last years to measure the quality of life for families with individuals with an intellectual disability. The Beach Center scale was the most common scale, followed by the Family Quality of Life Survey and the World Health Organization's quality of life assessment (WHOQoL-BREF). The results showed that the included studies in the review lack the consideration of a broader population representing the different types of cultures with different socioeconomic backgrounds. Key aspects used to assess the FQoL are environmental factors (proximal and distal factors), as well as economic factors. CONCLUSION: Although the operationalization of the FQoL often incudes several subthemes, a general agreement regarding which domains of the FQoL need to be included in the measurements, and these do not exist right now. Moreover, multidimensional scales are still rare.

Teachers' Implementation of Inclusive Teaching Practices as a Potential Predictor for Students' Perception of Academic, Social and Emotional Inclusion.

The aim of the study was to illustrate the impact of teachers' implementation of differentiation and individualization (perceived by students) on students' perception of their inclusion regarding their social inclusion, emotional wellbeing and academic self-concept. The study sample comprised 824 third-to-eighth-grade students [255 males (31%) and 569 females (69%)]. Around 10% of the sample (82) had special educational needs (SEN). Students' perceived inclusion levels and academic self-concept were examined with the Arabic version of the Perceptions of Inclusion Questionnaire (PIQ-S-AR). Students' ratings of inclusive practices in their classroom were examined using the Arabic version of the Inclusive Teaching Practices Scale (ITPS). SEN students expressed lower perceived social inclusion, emotional inclusion, and academic self-concept in comparison with non-SEN students. Moreover, high levels of inclusive teaching practices strongly predicted students' perceived emotional inclusion, social inclusion, and academic self-concept. The results of the study supported the importance of school-level inclusive teaching practices and their relation to students' school experiences. It also highlighted the need for schools and teachers to work towards improved school-level inclusion experiences for SEN students.

Factors associated with workers' attitudes towards employment of persons with intellectual disabilities in Saudi Arabia.

BACKGROUND: Persons with intellectual disabilities have the right to pursue and acquire gainful employment and thereby obtain the psychological, social and economic benefits derived from employment. AIMS: This study aimed to examine workers' attitudes towards and perspectives with respect to the challenges of employing persons with intellectual disabilities. METHOD: The sample was composed of 168 persons (60% male). Participants responded to a questionnaire that assessed their attitudes towards working with persons with intellectual disabilities (ATWQ) and a challenges questionnaire (CHQ). RESULTS AND CONCLUSION: This study found that familiarity (frequency of contact) and having a previous work experience with someone with an intellectual disability were positively associated with workers' attitudes towards employing persons with intellectual disabilities. Furthermore, owners and supervisors were more reluctant to accept the practice of employing persons with intellectual disabilities than were employees. No differences were found by gender. Implications based on the findings are discussed herein.

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.

PURPOSE: Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the leading cause of chronic kidney disease in children. In total, 174 monogenic causes of isolated or syndromic CAKUT are known. However, syndromic features may be overlooked when the initial clinical diagnosis of CAKUT is made. We hypothesized that the yield of a molecular genetic diagnosis by exome sequencing (ES) can be increased by applying reverse phenotyping, by re-examining the case for signs/symptoms of the suspected clinical syndrome that results from the genetic variant detected by ES. METHODS: We conducted ES in an international cohort of 731 unrelated families with CAKUT. We evaluated ES data for variants in 174 genes, in which variants are known to cause isolated or syndromic CAKUT. In cases in which ES suggested a previously unreported syndromic phenotype, we conducted reverse phenotyping. RESULTS: In 83 of 731 (11.4%) families, we detected a likely CAKUT-causing genetic variant consistent with an isolated or syndromic CAKUT phenotype. In 19 of these 83 families (22.9%), reverse phenotyping yielded syndromic clinical findings, thereby strengthening the genotype-phenotype correlation. CONCLUSION: We conclude that employing reverse phenotyping in the evaluation of syndromic CAKUT genes by ES provides an important tool to facilitate molecular genetic diagnostics in CAKUT.

The Positive Impact of Joint Activities on Students Attitudes Toward Peers With Disabilities.

Background: Attitudes toward peers with disabilities play a crucial role in implementing inclusive education. This study examines how students' attitudes are associated with gender; having relatives with disabilities and the frequency of contact with them; attending a class that includes students with special educational needs (SEN); and having previous contact with SEN students through joint activities. Methods and Procedures: The participants included 652 elementary school students (grades 4-6) who completed a short version of the Chedoke-McMaster Attitudes Toward Children with Handicaps (CATCH) questionnaire in Arabic. Outcomes and Results: Students in inclusive classes express more positive attitudes in comparison with students in regular classes. However, previous contact through joint activities was associated with more positive attitudes. Females were more likely to hold positive views than males. Having relatives with disabilities had no effect; however, a high frequency of contact with them was associated with more positive perspectives. Conclusions and Implications: The findings on students' attitudes indicate that joint activities between students with and without disabilities are important to promote positive attitudes. Planned opportunities to increase frequent contact, and to promote joint activities between students with and without SEN are recommended.

Special Education Major or Attitudes to Predict Teachers' Self-Efficacy for Teaching in Inclusive Education.

This study aimed to determine the predictors for Saudi Arabian teachers' self-efficacy to work in inclusive education. Five independent variables were tested in this study: attitudes toward inclusive education, participants' educational major, having relative with disability, working with students with disability and gender. Further, predictors of teachers' attitudes toward inclusive education were examined. The sample was 185 elementary-school teachers in Saudi Arabia. The Arabic version of the Teacher Efficacy for Inclusive Practices scale was used to measure self-efficacy. To assess attitudes toward inclusion an Arabic version of the Sentiments, Attitudes, and Concerns about Inclusive Education Revised subscale was used. Results showed teacher attitude toward inclusion are strongly linked with teachers' self-efficacy to work in inclusive classrooms. Further, participants with a relative with a disability showed more positive attitudes for inclusive education. Levels of self-efficacy were unaffected by gender, having a special education degree, or having a relative with a disability. In sum, this study highlighted the importance of teachers' attitudes toward inclusive education as a main predictor of teachers' self-efficacy.

Psychometric Properties and Rasch Validation of the Teachers' Version of the Perception of Resources Questionnaire.

Research indicates that the perception of available resources is a key factor for the implementation of inclusive education. Regarding the teachers, a relatively high level of perceived personnel and physical resources is associated with more positive attitudes toward inclusive education and experiencing a higher level of self-efficacy. Thus, this study aims to examine the psychometric properties of the teacher version of the Perceptions of Resources Questionnaire (PRQ-T). Data were collected from a sample of 1,078 in-service teachers in Austria. Different statistical analyses were used, including Rasch analysis and confirmatory factor analysis. The results indicated good psychometric properties of the PRQ-T regarding internal consistency measured by person separation index (PSI) and construct validity by both confirmatory factor analysis and the Rasch analysis. Moreover, the findings supported that the PRQ-T is a two-factor scale to measure teachers' perceptions of personnel and physical resources in inclusive education. Further studies with different samples are necessary to confirm the findings.

The positive impact of knowledge and quality of contact on university students' attitudes towards people with intellectual disability in the Arab world.

BACKGROUND: This study examines undergraduate students' attitudes towards people with intellectual disability (PWID) in relation to their frequency of contact with people with intellectual disability, the quality of this contact, and their knowledge of intellectual disability (ID). METHOD: The study sample comprised 1001 undergraduate students (458 male students [46 %]; 543 female students [54 %]; mean age = 20.6 years) from Saudi Arabia and Egypt. The Arabic version of the Mental Retardation Attitude Inventory-Revised (MRAI-R) was used to examine attitudes towards PWID. RESULTS: Knowledge about ID, quality of contact with PWID, and gender were significant predictors of attitudes. Frequency of contact, as well as having relatives with a disability, were not significant predictors of attitudes. No differences were found between participants from the two countries. CONCLUSION: The results of the study indicate that high-quality contact is a major predictor of students' attitudes. Therefore, society needs to ensure more than just simple forms of contact between people with and without disabilities.

Rasch Analysis of the Japanese Version of Teacher Efficacy for Inclusive Practices Scale: Scale Unidimensionality.

This study aimed to examine the construct validity of the Japanese version of the Teacher Efficacy for Inclusive Practices (TEIP) scale. The sample consisted of 250 teachers in Japan. Rasch analysis was used to examine the psychometric properties of the scale. Results did not support the 18-item Japanese version of the TEIP scale as a unidimensional scale for measuring TEIP. However, they do support the final 14-item Japanese version of the TEIP scale as a unidimensional scale for measuring TEIP. Four items were removed from the original 18-item scale (items 12, 8, 5, and 3) for violation of the local independency assumption. No item with differential item functioning (DIF) was detected. Only one item (item 18) was rescored to solve a threshold disorder. Further studies with different samples are warranted to confirm the study findings.

Psychometric Properties of the Arabic Version of the Behavioral Intention to Interact With Peers With Intellectual Disability Scale.

According to literature, students' attitudes toward peers with disabilities are crucial for the social inclusion of students with disabilities. Therefore, knowledge about students' behavioral intention to interact with peers with intellectual disability (ID) can help improve the social inclusion of students with ID. This study aimed to examine the psychometric properties of the Arabic version of the Behavioral Intention to Interact with Peers with Intellectual Disability Scale (BIS). Data were collected from 887 elementary school students (591 girls and 296 boys) from third to sixth grades in Saudi Arabia. Psychometric properties of the BIS were examined with a confirmatory factor analysis, measurement invariance analysis (across gender), and reliability scales (internal consistency). Good indicators were obtained for the construct and the convergent validity of the BIS. The results supported the two-dimensional structure of the BIS. The internal consistency of the BIS and each of its subscales was good. Furthermore, no measurement variance was found for boys and girls students. The Arabic version of the scale showed good psychometric properties and therefore can be recommended to measure students' behavioral intention to interact with peers with intellectual disability.

Rasch Validation of the Arabic Version of the Behavioral Intention to Interact With Peers With Intellectual Disability Scale.

This study aimed to examine the construct validity of the Arabic version of the behavioral intention to interact with peers using an intellectual disability (ID) scale. Rasch analysis was used to examine the psychometric properties of the scale. The sample contained 290 elementary students in Saudi Arabia (56% were girls and 44% were boys). Several parameters were examined: overall fit, item fit, person fit, assumption of local independence, and the scale's unidimensionality. Eight items were rescored, 22 misfit persons were removed, and no item with differential item functioning (DIF) was detected. Disordered thresholds were detected in eight items. The scale demonstrated good internal consistency [person separation index (PSI) 0.80] and fulfilled all the requirements of the Rasch model. After rescoring the eight items, Rasch analysis supported the scale's unidimensionality to measure children's behavioral intention to interact with peers with ID. The Arabic version of the scale, with the proposed scoring, could be a useful tool to measure children's behavioral intention to interact with peers with ID. Further studies with different samples are warranted to confirm the study's findings.

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

BACKGROUND: Whole-exome sequencing (WES) finds a CKD-related mutation in approximately 20% of patients presenting with CKD before 25 years of age. Although provision of a molecular diagnosis could have important implications for clinical management, evidence is lacking on the diagnostic yield and clinical utility of WES for pediatric renal transplant recipients. METHODS: To determine the diagnostic yield of WES in pediatric kidney transplant recipients, we recruited 104 patients who had received a transplant at Boston Children's Hospital from 2007 through 2017, performed WES, and analyzed results for likely deleterious variants in approximately 400 genes known to cause CKD. RESULTS: By WES, we identified a genetic cause of CKD in 34 out of 104 (32.7%) transplant recipients. The likelihood of detecting a molecular genetic diagnosis was highest for patients with urinary stone disease (three out of three individuals), followed by renal cystic ciliopathies (seven out of nine individuals), steroid-resistant nephrotic syndrome (nine out of 21 individuals), congenital anomalies of the kidney and urinary tract (ten out of 55 individuals), and chronic glomerulonephritis (one out of seven individuals). WES also yielded a molecular diagnosis for four out of nine individuals with ESRD of unknown etiology. The WES-related molecular genetic diagnosis had implications for clinical care for five patients. CONCLUSIONS: Nearly one third of pediatric renal transplant recipients had a genetic cause of their kidney disease identified by WES. Knowledge of this genetic information can help guide management of both transplant patients and potential living related donors.

Rasch Validation of the Arabic Version of the Chedoke-McMaster Attitudes Toward Children With Handicaps (CATCH-AR) Scale.

Students' attitudes toward peers with disabilities are crucial for the social inclusion of the latter. Therefore, understanding such attitudes can help improve the social inclusion of students with disabilities. This study aimed to examine the psychometric properties of the Arabic version of the Chedoke-McMaster Attitudes toward Children with Handicaps scale. Data were collected from 415 elementary school students, including 232 (56%) girls and 183 (44%) boys, in grades three to six in Saudi Arabia. The psychometric properties of the scale were examined using the Rasch analysis procedures. The results did not support the unidimensionality of the 36-item scale. Dividing items based on whether they are negatively or positively phrased improved the scale fit. Both the 15-item (positive phrasing) and the 18-item (negative phrasing) scales were supported by the Rasch analysis as unidimensional scales.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT. METHODS: We applied whole-exome sequencing to analyze the genotypes of individuals from 232 families with CAKUT, evaluating for mutations in single genes known to cause human CAKUT and genes known to cause CAKUT in mice. In consanguineous or multiplex families, we additionally performed a search for novel monogenic causes of CAKUT. RESULTS: In 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient's CAKUT phenotype. In three families (1%), we detected a mutation in a gene reported to cause a phenocopy of CAKUT. In 15 of 155 families with isolated CAKUT, we detected deleterious mutations in syndromic CAKUT genes. Our additional search for novel monogenic causes of CAKUT in consanguineous and multiplex families revealed a potential single, novel monogenic CAKUT gene in 19 of 232 families (8%). CONCLUSIONS: We identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole-exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 years of age, using gene panel sequencing of 30 genes known to cause nephrolithiasis/nephrocalcinosis. To overcome the limitations of panel sequencing, we utilized whole exome sequencing in 51 families, who presented before age 25 years with at least one renal stone or with a renal ultrasound finding of nephrocalcinosis to identify the underlying molecular genetic cause of disease. In 15 of 51 families, we detected a monogenic causative mutation by whole exome sequencing. A mutation in seven recessive genes (AGXT, ATP6V1B1, CLDN16, CLDN19, GRHPR, SLC3A1, SLC12A1), in one dominant gene (SLC9A3R1), and in one gene (SLC34A1) with both recessive and dominant inheritance was detected. Seven of the 19 different mutations were not previously described as disease-causing. In one family, a causative mutation in one of 117 genes that may represent phenocopies of nephrolithiasis-causing genes was detected. In nine of 15 families, the genetic diagnosis may have specific implications for stone management and prevention. Several factors that correlated with the higher detection rate in our cohort were younger age at onset of nephrolithiasis/nephrocalcinosis, presence of multiple affected members in a family, and presence of consanguinity. Thus, we established whole exome sequencing as an efficient approach toward a molecular genetic diagnosis in individuals with nephrolithiasis/nephrocalcinosis who manifest before age 25 years.