Journal of Special Education and Rehabilitation

Journal of Special Education and Rehabilitation

Basic info

  • Publisher: Faculty of Philosophy, Institute of Special Education and Rehabilitation
  • Country of publisher: macedonia, the former yugoslav republic of
  • Date added to EuroPub: 2017/May/14

Subject and more

  • LCC Subject Category: Medicine, Pediatrics, Psychology
  • Publisher's keywords: Medicine, psychology, pedagogy
  • Language of fulltext: english, macedonian
  • Full-text formats available: PDF

Publication charges

  • Article Processing Charges (APCs): No
  • Submission Charges: No
  • Waiver policy for charges? No

Editorial information

Open access & licensing

Best practice polices

Journal of Special Education and Rehabilitation

ANTHROPOMETRIC CHARACTERISTICS OF PRIMARY SCHOOL CHILDREN

Authors: Blagoja GESHOSKI
(42 downloads)
Abstract

In special education and rehabilitation a large number of implemented researches on physical and motor development of children with disabilities have been targeted in comparison to development of standards for children with normal development. It is evident that the overall physical and motor development of children with disabilities is unfolding in various pace and it is achieving a different level compared to children with normal development. The theory and practice of special education and rehabilitation takes into account the specifics of the rhythm of physical development, that is predisposed to the biological development plans (regulated by internal factors), but differences in the pace and level of development of children with disabilities require a special research approach, interpretation and application of the results obtained.

Keywords: growth, development, children with disabilities, anthropometry, motor, elementary school
Journal of Special Education and Rehabilitation

CELEBRATION OF DECEMBER 3RD, INTERNATIONAL DAY OF PERSONS WITH DISABILITIES

Authors: Maja FILIPOVSKA
(40 downloads)
Abstract

On December 2nd 2016 in the main amphitheater at the Faculty of Philosophy in Skopje, was held the celebration of December 3rd, the International Day of Persons with Disabilities, in organization of the Institute of Special Education and Rehabilitation. The official part of the program was started with a speech by Goran Ajdinski, PhD, the Dean of the Faculty of Philosophy in Skopje. The guests at the celebration were also greeted by the Rector of the University “Ss. Cyril and Methodius” – Skopje, Nikola Jankulovski, PhD and the Minister of Labor and Social Policy of Republic of Macedonia, Frosina Tashevska-Remenski, PhD. After the speeches, which highlighted the current efforts and future commitment to inclusion and accessibility of persons with disabilities, two awards were presented by the Humanitarian foundation “Prof. d-r Ljupco Ajdinski”.

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Journal of Special Education and Rehabilitation

DEPARTMENT OF EDUCATION AND REHABILITATION AT THE UNIVERSITY OF SARAJEVO, B...

Authors: Haris MEMIŠEVIC
(38 downloads)
Abstract

Given the increased pressure on educational system in Bosnia and Herzegovina (BiH) to fully embrace inclusive education and to provide appropriate supports to all students, there was a need for establishing a new department of Education and Rehabilitation in BiH. Thus, the Faculty of the Educational Sciences at the University of Sarajevo initiated and made a feasibility study on the need for establishing the new department. The feasibility study was then approved by the Government and Assembly of the Sarajevo Canton. To date, there were only two such departments at the state Universities in BiH, one in Tuzla (Federation of Bosnia and Herzegovina) and one in Fo?a (Republic of Srpska). This will be the third, state-supported, department for educating experts in the field of special education and rehabilitation of children with developmental disabilities.

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Journal of Special Education and Rehabilitation

PERCEPTION OF AMPLITUDE ONSET SIGNALS IN CHINESE CHILDREN WITH READING DIFF...

Authors: Chun-Han CHIANG, I-Chen CHEN, Hsiao-Lan WANG
(38 downloads)
Abstract

This study explored the fundamental auditory processing of sound amplitude in Chinese children with both reading and language difficulties. Fifteen children with Chinese reading difficulties (RD), fifteen children with Chinese reading difficulties and specific language impairments (RD-SLI), and sixteen age-matched controls (CA) were recruited from local primary schools in Taiwan. The three groups were compared specifically on phonological awareness and auditory amplitude onset discrimination. Our preliminary results confirmed that age-matched controls performed significantly better on all of the phonological and auditory measurements, compared to both groups of children with RD. Children with RD-SLI performed significantly worse than children with RD in Chinese character recognition. Also Chinese children with RD-SLI were found to be poorer in phonological performance and to be more insensitive to complex sound amplitude onset, compared with Chinese children with RD. We concluded that poor auditory discrimination of sound amplitude onset might be fundamental to characterize Chinese children with reading difficulties and language impairments.

Keywords: Reading Difficulties (RD), Specific Language Impairments (SLI), Phonological Processing, Auditory Amplitude Perception, Chinese character recognition, Chinese Mandarin
Journal of Special Education and Rehabilitation

COMPARISON OF TEACHERS’ ATTITUDES TOWARDS INCLUSIVE EDUCATION IN BOSNIA...

Authors: Alma DIZDAREVIC, Amila MUJEZINOVIC, Haris MEMISEVIC
(39 downloads)
Abstract

The goal of this study is to compare the attitudes of teachers from Bosnia and Herzegovina (BIH) and teachers from five European Union (EU) countries (Austria, Croatia, Italy, Slovenia and Germany) towards the inclusive education of students with special educational needs. The sample for this study is comprised of 110 teachers from Bosnia and Herzegovina and 110 teachers from EU. The attitudes were examined by using a questionnaire that was adapted from the Index for inclusion. The final interview protocol consisted 20 questions, which had an excellent internal consistency, Cronbach’s alpha of 0.98. A Chi square test was performed to test the differences in attitudes. The results of this study indicated highly positive attitudes towards inclusive education of EU teachers and positive attitudes of BIH teachers. EU teachers had more favourable attitudes than teachers in BIH on 18 of 20 questionnaire items. These findings were discussed in the light of previous BIH and international researches. The paper ends with a discussion for the challenges and possibilities for improvement of the inclusive education in BIH.

Keywords: Inclusive Education, Special Educational Needs, Attitudes, Teachers
Journal of Special Education and Rehabilitation

GUIDED EMPLOYMENT – RIGHTS AND OPPORTUNITIES FOR PEOPLE WITH INTELLECTUAL D...

Authors: Erna ZHGUR
(40 downloads)
Abstract

Introduction: People with intellectual disabilities (ID) are often excluded from the labour market and face many obstacles on their way to employment. Aim: The main aim is giving the persons with ID a possibility to participate in occasional employment, providing them suitable work skills, sustainable knowledge and competencies, as well as suitable skills for more active life. Materials and methods: We analysed 90 evaluation questionnaires (filled out by students, mentors, parents and craftsmen), during a 3-year project (September 2013 - October 2015). The Spearman Correlation Coefficient and Chi-square test were used for statistical data analysis. Results: We determined the level of satisfaction expressed by parents, mentors and students, related to guided employment (?2 = 1,07; p > 0,05; ?2 = 0,04; p > 0,05;?2 = 0,04; p > 0,05). Workshops were balanced with theoretical and practical content (?2 = 16,58; p < 0,05). Mentors, parents, students and craftsmen expressed similar opinions in regards to the success of individual workshops (it depended on the type of workshop); mentors (?2 = 16,76; p < 0,05); parents (? = 0,99, p < 0,05); students (? = 0,55; p > 0,05), craftsmen (? = 0,79; p < 0,05). Craftsmen were willing to accept students with ID even without adapting the working conditions or state incentives (?2 = 3,34; p > 0,05). Conclusion: Implementation of selected workshops, related to guided employment showed that employment of people with ID is possible under professional guidance of mentors.

Keywords: guided employment, students with intellectual disabilities, workshops
Journal of Special Education and Rehabilitation

PRAGMATIC ABILITIES OF PUPILS WITH MILD INTELLECTUAL DISABILITIES

Authors: Mateja SHILC, Majda SHMIDT, Stane KOSHIR
(38 downloads)
Abstract

The research analyses characteristics of pragmatic abilities of storytelling of pupils with mild intellectual disabilities (MID), in the light of vocabulary characteristics, grammar structure and substantive structure of a story, considering their age and gender. The sample consists of 60 pupils with MID, aged 7 to 9, who attend special school. Child’s pragmatic abilities are assessed with The Storytelling Test. The research results reveal considerable progress of the older group in vocabulary, whereas the progress in grammatical and substantive structure was less substantial. When comparing achievements of pupils with MID according to the vocabulary, grammatical and substantive story structure, no gender differences are determined. A comparison of pragmatic abilities of younger and older groups of pupils with MID with the norms for peers with typical development shows minor deviation of the younger group. The research results reveal characteristics of pragmatic abilities of pupils with MID and can provide insights to speech therapists, teachers, special education teachers and counsellors when considering profiles of individuals that are taken as a basis for designing intervention programs. By implementing such program, we would encourage development of pragmatic abilities of pupils, thus affecting their academic achievements, communication competency and social skills.

Keywords: pragmatic abilities, mild intellectual disabilities, language, speech
Journal of Special Education and Rehabilitation

RAPID NAMING IN CHILDREN WITH SPECIFIC LANGUAGE IMPAIRMENT AND IN CHILDREN...

Authors: Neda MILOSHEVIĆ, Mile VUKOVIĆ
(45 downloads)
Abstract

Aimed at the detailed insight into the phonological ability of Serbian-speaking children of preschool age, with and without language impairment, the ability of rapid naming was examined. Method: Operationalization of the set goal was carried out by using the Test for evaluating reading and writing pre-skills. In describing and analyzing the obtained data, methods of descriptive and inferential statistics were used. The sample included 120 subjects of both gender, 40 children diagnosed with specific language impairment (SLI), age from 5,11 to 7 years, and 80 children with typical language development (TLD), age between 5,11 and 7 years, with no statistically significant differences in relation to age and gender of the participants. Results: Summing up the overall results and achievements of children with SLI and children with TLD, we concluded that there are statistically significant differences in the rapid naming between children with specific language impairment and children with typical language development. Conclusions: As it is a global trend to work on preventing disorders and obstructions, and phonological skills in this age are a timely indicator of the development of reading and writing skills, the examined children with SLI are at risk for the occurrence of obstructions and disorders in the area of reading and writing abilities.

Keywords: rapid naming, phonological skills, specific language impairment, typical language development
Journal of Special Education and Rehabilitation

AN EVALUATION OF THE QUALITY OF LIFE OF HEARING IMPAIRED CHILDREN ATTENDING...

Authors: Radomir Branislav ARSIĆ, Srboljub Vlastimir DJORDJEVIĆ
(40 downloads)
Abstract

Quality of life is vague and difficult to define, since individual goals, in addition to economic, cultural, religious and educational factors, also have a dominant influence. This study is aimed to determine the differences in the responses received on the quality of life of deaf and hard-of-hearing children and to show which of the two social protections, family or boarding school, provides better conditions for the assessment of the quality of life of these children. The methods used in data processing included descriptive statistics and statistical analysis (Cronbach ?, t-test and Pearson's correlation coefficient). All statistical analyses were performed in the statistical program SSPS 19. The sample consisted of 61 students in special schools for deaf children who were examined using a paediatric questionnaire about quality of life (Pediatric Quality of Life Inventory TM – PedsQL, version 4.0). The results: With children who were housed in dormitories of special schools for deaf children, during their education we obtained less pronounced results ranging from 0,70 on the sub-scale of psycho-social health to 0,81 on the social scale. Conclusion: The obtained results indicate that children with hearing impairment who are housed in the dormitories of schools for the deaf during their education have a favourable opinion of the quality of their lives, irrespective of the fact that they live in a dormitory compared to children who live with their families.

Keywords: quality of life, deaf children, family, boarding school, welfare
Journal of Special Education and Rehabilitation

PREVALENCE AND CAUSES OF BLINDNESS AMONG MACEDONIAN ADULT POPULATION

Authors: Daniela DIMITROVA - RADOJICHIKJ
(41 downloads)
Abstract

Goal: To determine prevalence and causes of blindness among adults (? 26 years age) in five municipalities in the Republic of Macedonia. Methods: The ophthalmology statements of registered people with blindness who are beneficiaries of social welfare in 2015 were reviewed. Results: A total of 475 records were included in the research. The mean age of the persons was 64.1 (range 26-87), both male and female. Blindness was found to be significantly associated with increasing age (p<0.001). There was gender difference in the prevalence of blindness (p=0.0310).The rate of blindness was estimated to be 0.24% (95% CI:0.22-0.26). The most common causes were cataract (23.2%), then glaucoma (21.7%) and diabetic retinopathy (12.8%). Many of the causes of blindness were potentially avoidable, with cataract and glaucoma as leading etiology. Conclusion: The results of this study point to the initiation of coordinated activities to prevent blindness caused from cataract, glaucoma, and diabetic retinopathy.

Keywords: prevalence, age, gender, causes of blindness
Journal of Special Education and Rehabilitation

20 YEARS JOURNAL OF SPECIAL EDUCATION AND REHABILITATION - A PERIOD OF CONT...

Authors: Vladimir TRAJKOVSKI, Doncho DONEV
(38 downloads)
Abstract

Introduction and goal: The first edition of the “Journal of Special Education and Rehabilitation” was released for the first time in 1997, and over the past 20 years, 37 issues have been published. In the Journal different kinds of articles are published from several scientific disciplines such as special education and rehabilitation, medicine, pedagogy, psychology, social politics, law and others. The goal of this editorial is to review the 20 years’ existence of the “Journal of Special Education and Rehabilitation” and to point out the future activities for the promotion of the quality of published articles and the integrity and visibility of the journal. Methods: Review and analysis of the documentation of the journal as well as the evidence of submitted, rejected and accepted manuscripts, the structure of published articles by according to their uniqueness, and other specific moments in the development of the journal from its founding in 1997 – and especially the achievements in the period from 2008 to 2016. Results: Over the past nine years we have noticed a growth in the number of authors and co-authors from the published articles by 358, from 28 different countries. The rate of acceptance of new articles has reduced from the original 93% in the first years of the foundation of the journal to 33% in the last three years. The majority of published articles come from authors from Macedonia which we can find in 31 articles or 27.7% from the overall published articles. The majority of authors have published original manuscripts (n= 87 or 53%), and then we have 12% articles of revision and 11.5% scientific articles. With regard to the different sections of the journal, the most published are news and information that are not subject to review (28%) while from the articles that are reviewed the most represented section is from special education and rehabilitation with a total of 16.5% from the overall number of published articles. Conclusion: The “Journal of Special Education and Rehabilitation” is a journal that undertakes review on its articles and has an open access policy, which marks a continuous progress in quality and visibility with an appointed goal to serve as a solid medium to enhance scientific research and to promote professional achievements in the field of special education and rehabilitation and the similar fields in biomedicine in the Republic of Macedonia and abroad.

Keywords: Journal of Special Education and Rehabilitation, 20 years, reviewed journal, open access, publishing ethics and integrity
Journal of Special Education and Rehabilitation

TEXTBOOKS FOR INITIAL READING AND WRITING FOR STUDENTS WITH MILD INTELLECTU...

Authors: Slavica TODOROVA
(41 downloads)
Abstract

The master thesis is a modern, scientific and empirical study presented at 103 pages, structured with an introduction and six chapters: Theoretical foundations of the problem, Research methodology, Analysis of results and discussion, Concluding observations with suggestions, Literature and Annexes. The literature that has been used for preparation of the thesis is composed of 67 bibliographical units in English and Macedonian Language, representing part of the current thematic relevant manuscripts drawn from many research studies and projects implemented in many countries around the world. The first chapter of the thesis is a very solid theoretical elaboration and definition of the research problem.

Keywords: inclusive education, textbooks, students with mild intellectual disability
Journal of Special Education and Rehabilitation

HELD CONFERENCE: CONTEMPORARY THEORETICAL AND PRACTICAL TRENDS IN SPECIAL E...

Authors: Olivera RASHIKJ-CANEVSKA
(37 downloads)
Abstract

In the period between 16th and 18th of June 2016 year, Macedonian association of special educators and rehabilitators in cooperation with the Faculty of Philosophy in Skopje and the Institute of Special Education and Rehabilitation held an international conference in Ohrid, on the topic: Contemporary theoretical and practical trends in special education and rehabilitation. Beside the domestic participants there were a lot of guests from many different countries: Serbia, Croatia, Bosnia and Herzegovina, Slovenia, Great Britain, as well as representatives from the Ministry of education and science, Agency for international development of the USA (USAID) and European council in the Republic of Macedonia.

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Journal of Special Education and Rehabilitation

THIRD TRANSNATIONAL MEETING WITHIN THE ESIPP PROJECT

Authors: Jasmina TROSHANSKA
(41 downloads)
Abstract

In the period from 15 to 16 of June 2016 at the Faculty of Philosophy, the 3rd transnational meeting of organizations including ESIPP-project (Equity and Social Inclusion trough Positive Parenting) was held. The meeting was hosted by Macedonian Scientific Society for Autism. On June 15, attendees were welcomed by Prof. Dr. Lena Damovska, Deputy Dean of the Faculty of Philosophy and Prof. Dr. Vladimir Trajkovski. Then, representatives from the University of Northampton David Preece with Paul Bramble, who was present via Skype talked about the activities and the state of project management, and David Preece explained the project report. Dr. Jasmina Stosic from Faculty for Education and Rehabilitation from Zagreb the state of delivery workstream. Parents from R. Hrvatska and R. Macedonia showed satisfaction from participating in the training. Loizos Simenou from the European University of Cyprus spoke about the realized and future activities related to sustainability of the project.

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Journal of Special Education and Rehabilitation

NEWS ABOUT THE VISIT OF ASS. PROFESSOR BLAKE HANSEN PH.D., CONDUCTED RESEAR...

Authors: Filip JURTOSKI
(42 downloads)
Abstract

Macedonian Scientific Society for Autism (MSSA) in cooperation with Ass. Professor Blake Hansen Ph.D. and his team began conducting research and trainings that were held in Skopje, Republic of Macedonia. Ph.D. Ass. Professor Blake Hansen is a lecturer in Brigham Young University in Provo, Utah, USA in the Department for advice psychology and special education. He is also a visiting professor at the University for Medicine in Utah, in the Department of pediatrics. His main areas of expertise are evaluation of challenging behavior and early intervention, instructions for reading and speech and small size sample research. He has worked with graduates from the areas of special education, early intervention, school psychology, advice, experimental psychology and speech language pathology. His research is focused on evaluation and intervention with challenging behavior with persons with intellectual disability, the different kinds and function of repetitive behavior and anxiety disorders.

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Journal of Special Education and Rehabilitation

CHALLENGES OF EMPOWERING PEOPLE WITH DISABILITIES IN NIGERIA FOR NATIONAL D...

Authors: Johan ELEWEKE, Gabriel SOJE
(0 downloads)
Abstract

Introduction: This paper reviews issues affecting the empowerment of people with disabilities in Nigeria so they can be productive and contribute to the development of the nation. The questions of concern are: What is known about the extent people with disabilities are empowered to contribute to national development in Nigeria? What challenges do people with disabilities in Nigeria encounter in their attempt to contribute to national development? What are the implications of these challenges regarding strategies that could enhance the empowerment of people with disabilities to facilitate their contribution to national development? Method: This paper addresses these questions by reviewing available research on issues pertaining to (1) legislative mandates on provision of services to individuals with disabilities in the country, (2) funding for services by the government, (3) accessing education and related services, which can ensure that people with disabilities are able to develop their potential and be able to contribute to national development as workers, administrators or employers of labour. Findings: Available evidence indicates that people with disabilities in Nigeria encounter challenges in accessing essential services that could enhance their contribution to national development due to factors such as the absence of legislation protecting their rights to receive these services, inadequate funding of services, absence of effective inclusion programmes, and lack of facilities, personnel, and resources. Suggestions and conclusion: The author recommended some strategies that could produce better outcomes and enhance the opportunities for people with disabilities to be empowered so that they can contribute their quota to national development. These strategies include: enacting and implementing ? national disability legislation, utilisation of community-based strategies in the provision of services, and increased advocacy activities by disability organisations.

Keywords: Nigeria, developing countries, people with disabilities, empowerment, service provision, national development
Journal of Special Education and Rehabilitation

THE RELATION BETWEEN SCHOOL BULLYING AND VICTIMIZATION IN CHILDREN WITH ATT...

Authors: Anamarija ŽIC RALIĆ, Daniela CVITKOVIĆ, Ena ŠIFNER
(39 downloads)
Abstract

The ADHD symptoms put the children suffering from this disorder at a higher risk of being a victim of bulling as well as of behaving aggressively towards peers. Objectives: This study is conducted in order to identify the frequency of specific forms of victimization and bullying in children with ADHD, and to determine if there is any correlation between victimization and bullying, and between different forms of bullying in children with ADHD. Methods: Bullying was tested on a sample of 72 first-through-eighth graders with ADHD diagnosis by means of the School Bullying Questionnaire (UŠN-2003) designed in line with the Olweus Bully/Victim Questionnaire. Results: The results indicate a statistically significant correlation between being a victim and being a perpetrator of bullying. The study also shows statistically significant correlations between specific forms of bullying. Conclusion: The results of this study provide guidelines for further studies and prevention/ intervention programs concerning bullying which involves children with ADHD.

Keywords: ADHD, children, school bullying, victims
Journal of Special Education and Rehabilitation

EXAMINING THE FACTOR STRUCTURE OF AN EARLY CHILDHOOD SOCIAL EMOTIONAL SCREE...

Authors: Chieh-Yu CHEN, Alberto FILGUEIRAS, Jane SQUIRES, Jesus LANDEIRA-FERNANDEZ
(41 downloads)
Abstract

Introduction: The Ages & Stages Questionnaires: Social-Emotional (ASQ:SE) has been recommended for screening young children for social-emotional delays in pediatric practices and other early childhood settings. While many psychometric properties of the ASQ:SE have been examined, the factorial structure of the instrument has not as yet been comprehensively investigated. This study examined the factorial structure of the ASQ:SE in order to establish its construct validity, including study of all eight age intervals. Method: A total of 13,718 child/parent dyads participated in the study in the United States, completing one ASQ:SE test interval. ASQ:SE is a screening instrument exclusively focusing on social-emotional competence in 3-to-66 month old children. A series of eight questionnaires at different age intervals (i.e., 6-, 12-, 18-, 24-, 30-, 36-, 48-, and 60-month) make up the content. Exploratory factor analysis was conducted to evaluate the number of factors that should be retained, factorial structures, and item loading on factors. Confirmatory factor analysis was conducted to further examine the goodness-of-fit of the fit model to data, based on the exploratory factor analysis result. Results: One-factor and two-factor structure models were suggested by the exploratory factor analysis results depending on the age intervals. Confirmatory factor analysis indicted that a two-factor structure model was a better fit than a one-factor structure for all intervals. Conclusion: The items representing social-emotional competence in the ASQ:SE can be classified in two highly correlated clusters, labeled as Emotion and Sociality. The findings supported the construct validity of the ASQ:SE, measured the intended underlying constructs.

Keywords: Ages & Stages Questionnaires, Social-Emotional (ASQ:SE), construct validity, factor analysis, screening, social-emotional competence
Journal of Special Education and Rehabilitation

TEST-RETEST RELIABILITY OF INDEPENDENT PHONOLOGICAL MEASURES OF 2-YEAR-OLD...

Authors: Katherine Marie WITTLER, Shari Leigh DEVENEY
(0 downloads)
Abstract

Introduction: Within the field of speech-language pathology, many assume commonly used informal speech sound measures are reliable. However, lack of scientific evidence to support this assumption is problematic. Speech-language pathologists often use informal speech sound analyses for establishing baseline behaviors from which therapeutic progress can be measured. Few researchers have examined the test-retest reliability of informal phonological measures when evaluating the speech productions of young children. Clinically, data regarding these measures are critical for facilitating evidence-based decision making for speech-language assessment and treatment. Objectives: The aim of the present study was to identify the evidence-base regarding temporal reliability of two such informal speech sound measures, phonetic inventory and word shape analysis, with two-year-old children. Methods: The researchers examined analyses conducted from conversational speech samples taken exactly one week apart for three children 29- to 33-months of age. The videotaped 20-minute play-based conversational samples were completed while the children interacted with their mothers. The samples were then transcribed using the International Phonetic Alphabet (IPA) and analyzed using the two informal measures noted above. Results: Based on visual inspection of the data, the test-retest reliability of initial consonant and consonant cluster productions was unstable between the two conversational samples. However, phonetic inventories for final consonants and word shape analyses were relatively stable over time. Conclusion: Although more data is needed, the results of this study indicate that academic faculty, clinical educators, and practicing speech-language pathologists should be cautious when interpreting informal speech sound analyses based on play-based communication samples of young children.

Keywords: communication disorders, phonetic inventory, phonology, speech, speech-language pathology, word shape analysis
Journal of Special Education and Rehabilitation

CONTEMPORARY APPROACH TO DIAGNOSIS OF GENETIC CAUSES OF INTELLECTUAL DISABI...

Authors: Ana PETERLIN , Borut PETERLIN
(41 downloads)
Abstract

Intellectual disability is a lifelong debilitating developmental disorder with important genetic contribution, which remains challenging to investigate due to high clinical and genetic variability. Finding the etiologic diagnosis of ID, however comes with great benefits for patients and their families, therefore establishing a genetic diagnostic pathway with right combination and succession of diagnostic tools is crucial for both prevention and appropriate treatment and/or rehabilitation of patients with ID. New diagnostic tools in genetics such as array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) have much higher detection rate for genetic aberrations responsible for ID and have enormous potential to shorten the path to diagnosis, as early diagnosis is a cornerstone for medical and non-medical management of persons suffering from ID.

Keywords: intellectual disability, aCGH, NGS, genetic testing

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