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
  • Time from submission to publication: 8 weeks

Publication charges

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

Open access & licensing

  • Type of License: CC BY
  • License terms
  • Open Access Statement: Yes
  • Year open access content began: 1997
  • Does the author retain unrestricted copyright? False
  • Does the author retain publishing rights? False

Best practice polices

  • Permanent article identifier: DOI
  • Content digitally archived in: LOCKSS, CLOCKSS
  • Deposit policy registered in: Sherpa/Romeo

This journal has '589' articles

VALIDITY, RELIABILITY AND UTILITY OF THE 6-YEAR AGES AND STAGES QUESTIONNAIRE

VALIDITY, RELIABILITY AND UTILITY OF THE 6-YEAR AGES AND STAGES QUESTIONNAIRE

Authors: Ajay SINGH| University of Oregon, USA
Year: 2015, Volume: 16, Number: 3
(36 downloads)
Abstract

Introduction: The Ages and Stages Question-naire (ASQ), is a parent completed question-naire that may be used as a general develop-mental screening tool, evaluating five develop-mental domains: communication, gross motor, fine motor, problem-solving, and personal adaptive skills, for children from ages of 1 to 66 months (1). Now that the usefulness of the ASQ has been demonstrated in many contexts, and international interest has been aroused by the demonstrated benefit of early intervention for children with developmental delays, the time has come to expand the age range of ASQ. Researchers have designed the 6-Year ASQ to answer the need for a screening tool for children approaching school age. The 6-Year ASQ (2) will evaluate five develop-mental domains: communication, gross motor, fine motor, problem-solving, and personal adaptive skills, for children from the ages of 66 months to 78 months. Objectives: The primary objective of this research study was to expand the age range of the ASQ and measure the psychometric properties of the 6-Year ASQ. Methods: The purpose of this research study is to measure the psychometric properties, including validity, reliability and utility of the 6-Year ASQ. Results: This research study was focused on the psychometric properties of the 6-Year ASQ (2). A Confirmatory Factor Analysis (CFA) with categorical data confirmed the 6-Year ASQ domains e.g., communication, gross motor, fine motor, problem-solving, and personal adaptive skills. The implied model showed high level of fit, so its para-meter was interpretable, indicating approp-riateness for the 6-Year ASQ structure. The results were promising in terms of reliability, validity and utility of the 6-Year ASQ. The research result showed that the 6-Year ASQ (2) was found to be highly reliable. Conclusion: This research study have investigated the usefulness of the 6-Year ASQ and examined the validity, reliability and utility of the 6-Year ASQ. The results of this research study provided initial evidence for use of the 6-Year ASQ. This question-naire may help with a model for identifying school-age children early and improving their outcomes. In summary, the result of this research study supported the use of the 6-Year ASQ for early identification of suspe-cted developmental delay. The 6-Year ASQ can be used to improve the early identifica-tion of school-age children and improve out-comes before disabilities become more esta-blished (2).

Keywords: Parent-completed Developmental Questionnaire, ASQ, Validity, Reliability, Utility, Confirmatory Factor Analysis
EVALUATION OF THE INDEPENDENCE OF CHILDREN WITH CEREBRAL PALSY AND HYDROCEPHALUS FOR PERFORMING EVERYDAY ACTIVITIES

EVALUATION OF THE INDEPENDENCE OF CHILDREN WITH CEREBRAL PALSY AND HYDROCEPHALUS FOR PERFORMING EVERYDAY ACTIVITIES

Authors: Sanja ATANASOVSKA| Department of Physical Medicine and Rehabilitation, Skopje, Republic of Macedonia
Year: 2015, Volume: 16, Number: 3
(36 downloads)
Abstract

The master’s thesis is presented on 111 pages. The paper contains the following parts: Introduction, Theoretical part, Rese-arch, composed of Methodology of Research, Analysis and Interpretation of Results, Discussion, Conclusions, Recom-mendations, Attachments and Literature. The Introduction explains the concept of cerebral palsy and hydrocephalus. Cerebral palsy is chronic, no progressive damage of the brain, which can be developed during pregnancy, birth or in the first few years of the postnatal period (the slow psychomotor early-development). Hydrocephalus repre-sents increased quantity of cerebral liquid and expansion of the cerebral ventricles. The way of life and the everyday func-tioning depends on the type of the cerebral palsy and whether the child is diagnosed with hydrocephalus.

Keywords: cerebral palsy, hydrocephalus, daily activities, rehabilitation
THE ROLE OF ARTICLE LEVEL METRICS IN SCIENTIFIC PUBLISHING

THE ROLE OF ARTICLE LEVEL METRICS IN SCIENTIFIC PUBLISHING

Authors: Vladimir TRAJKOVSKI| Journal of Special Education and Rehabilitation Institute of Special Education and Rehabilitation, Faculty of Philosophy, Univers...
Year: 2016, Volume: 17, Number: 1
(35 downloads)
Abstract

Emerging metrics based on article-level does not exclude traditional metrics based on citations to the journal, but complements them. Article-level metrics (ALMs) provide a wide range of metrics about the uptake of an individual journal article by the scientific community after publication. They include citations, statistics of usage, discussions in online comments and social media, social bookmarking, and recommendations. In this editorial, the role of article level metrics in publishing scientific papers has been described. Article-Level Metrics (ALMs) are rapidly emerging as important tools to quantify how individual articles are being discussed, shared, and used. Data sources depend on the tool, but they include classic metrics indicators depending on citations, academic social networks (Mendeley, CiteULike, Delicious) and social media (Facebook, Twitter, blogs, and Youtube). The most popular tools used to apply this new metrics are: Public Library of Science - Article-Level Metrics, Altmetric, Impactstory and Plum Analytics. Journal Impact Factor (JIF) does not consider impact or influence beyond citations count as this count reflected only through Thomson Reuters’ Web of Science® database. JIF provides indicator related to the journal, but not related to a published paper. Thus, altmetrics now becomes an alternative metrics for performance assessment of individual scientists and their contributed scholarly publications. Macedonian scholarly publishers have to work on implementing of article level metrics in their e-journals. It is the way to increase their visibility and impact in the world of science.

Keywords: Article level metrics, altmetrics, scientometrics, scientific publishing, social media
CORRELATION BETWEEN TYMPANIC MEMBRANE PERFORATION AND HEARING LOSS

CORRELATION BETWEEN TYMPANIC MEMBRANE PERFORATION AND HEARING LOSS

Authors: Lidija RISTOVSKA| City General Hospital “8 September”, Department of Otorhinolaryngology, Division of Audiology, Skopje, Republic of Macedonia, Zora J...
Year: 2016, Volume: 17, Number: 1
(35 downloads)
Abstract

Introduction: Perforation of the tympanic membrane primarily results from middle ear infections, trauma or iatrogenic causes. The perforation causes conductive hearing loss by reducing the surface area available for sound transmission to the ossicular chain. Objective: The objective was to analyze the characteristics of tympanic membrane perforations in relation to hearing loss and to determine the type and degree of hearing loss. Materials and methods: We analyzed audiometric, otoscopic findings and medical reports of 218 patients, 114 males (52.3%) and 104 females (47.7%), aged 9 to 75 years (mean age of 47.9 years), examined during the period of November 2012 to October 2015. For statistical data analysis we used Chi-square test with level of significance p<0.05. Results: Most of the patients had unilateral perforations (89%) with right ear predominance and involvement of two quadrants of pars tensa (37.2%). Mean air-bone gap was 23.9 dB. The largest air-bone gap was at frequency of 250 Hz. Most of the patients (73.1%) had mixed hearing loss (p=0.032), and average hearing thresholds from 21 to 40 dB. Conclusion: Mean air-bone gap is largest at the lower frequencies, and decreases as frequency increases. Size of the perforation has effect on hearing loss. Mean air-bone gap increases with increasing size of the perforation. There is no big difference between the mean air-bone gap in posterior versus anterior perforations.

Keywords: hearing loss, perforation, tympanic membrane
VOICE QUALITY BEFORE AND AFTER THYROIDECTOMY

VOICE QUALITY BEFORE AND AFTER THYROIDECTOMY

Authors: Dora CVELBAR| University of Zagreb, Faculty of Education and Rehabilitation Sciences, Department of Speech and Language Pathology, Zagreb, Croatia, An...
Year: 2016, Volume: 17, Number: 1
(36 downloads)
Abstract

Introduction: Voice disorders are a well-known complication which is often associated with thyroid gland diseases and because voice is still the basic mean of communication it is very important to maintain its quality healthy. Objectives: The aim of this study referred to questions whether there is a statistically significant difference between results of voice self-assessment, perceptual voice assessment and acoustic voice analysis before and after thyroidectomy and whether there are statistically significant correlations between variables of voice self-assessment, perceptual assessment and acoustic analysis before and after thyroidectomy. Methods: This scientific research included 12 participants aged between 41 and 76. Voice self-assessment was conducted with the help of Croatian version of Voice Handicap Index (VHI). Recorded reading samples were used for perceptual assessment and later evaluated by two clinical speech and language therapists. Recorded samples of phonation were used for acoustic analysis which was conducted with the help of acoustic program Praat. All of the data was processed through descriptive statistics and nonparametric statistical methods. Results: Results showed that there are statistically significant differences between results of voice self-assessments and results of acoustic analysis before and after thyroidectomy. Statistically significant correlations were found between variables of perceptual assessment and acoustic analysis. Conclusion: Obtained results indicate the importance of multidimensional, preoperative and postoperative assessment. This kind of assessment allows the clinician to describe all of the voice features and provides appropriate recommendation for further rehabilitation to the patient in order to optimize voice outcomes.

Keywords: voice quality, thyroidectomy, voice self-assessment, perceptual voice assessment, acoustic voice analysis
UNDERSTANDING CONATIVE REGULATION SYSTEMS – AN EXAMINATION OF THE DIFFERENCES BETWEEN OFFENDERS AND NON-OFFENDERS

UNDERSTANDING CONATIVE REGULATION SYSTEMS – AN EXAMINATION OF THE DIFFERENCES BETWEEN OFFENDERS AND NON-OFFENDERS

Authors: Sanja DJURDJEVIC| Faculty of Special Education and Rehabilitation, University of Belgrade, Belgrade, Serbia, Zilijeta KRIVOKAPIC| 2High Medical Schoo...
Year: 2016, Volume: 17, Number: 1
(35 downloads)
Abstract

Introduction: Numerous studies confirmed personality traits as being important predictors of criminal behavior. The aim of this research was to determine which constellation of basic personality traits incarcerated individuals and those serving alternative sanctions differ, and which traits make the difference between the criminal and the non-criminal populations. In this research, the model of personality used is a cybernetic model of conative functioning, which assumes that conative regulation systems almost completely describe the structure of personality. Methods: The study sample consisted of 391 male respondents (152 offenders serving prison sentence, 91 convicts sentenced to alternative penalties and 148 non-offenders). Examined variables were: the regulator of activity (Extroversion), the regulator of organic functions (Hysteria), the regulator of defense reactions (Anxiety), the regulator of attack reactions (Aggressiveness), the system for coordination of regulatory functions (Psychoticism) and the system for integration of regulatory functions (Integration). Results: There were significant differences in all dimensions of personality between groups, except for the framework of Extraversion. The traits that contribute to the difference between individuals serving prison sentence and offenders sentenced to alternative penalties are Integration and Aggressiveness. The traits that contribute to the difference between non-offenders and offenders serving prison sentence are Psychoticism, Integration, Aggressiveness, and Anxiety. Among offenders sentenced to alternative penalties and the general population no difference in personality traits was found. Conclusion: Our findings may indicate the need for mandatory diagnostic psychological evaluation of persons who have committed minor offenses, to ensure the right decision is made when choosing between prison and an alternative method of punishment.

Keywords: personality traits, offenders, disorganization, disorders, rehabilitation
HOMEWORK ACCURACY TO INCREASE THE ACADEMIC REPERTOIRE OF YOUNG CHILDREN WITH AUTISM

HOMEWORK ACCURACY TO INCREASE THE ACADEMIC REPERTOIRE OF YOUNG CHILDREN WITH AUTISM

Authors: Lina GILIC| Ss John's University New York, USA
Year: 2016, Volume: 17, Number: 1
(35 downloads)
Abstract

There are many forms of interventions used to increase homework completion. However, there is far less research to assess homework accuracy for young children with special needs, and even less for young children diagnosed with Autism. Homework intervention methods have been proven by researchers to be effective under certain specific circumstances. Emphasis should be placed on increasing the accuracy of homework completed prior to deciding what intervention would be more effective for a particular student struggling with homework completion. Educators should take into consideration the level of participation from the children’s home, the needs of the student, and how data would be collected and communicated for homework accuracy. Data for visual analysis would identify the homework completed correctly rather than just completed, and also identify progress over time. Researchers have demonstrated that homework completed cannot determine academic skill gained which is needed for academic success for young students with or without disabilities. Homework accuracy requires greater attention and emphasis in the early childhood research. The need for research on young children with Autism is evident as it is the fastest growing neurobiological condition in the world. The inclusion of children with Autism in the general environment has also greatly increased. Recommendations for further research focused on homework accuracy are offered.

Keywords: homework accuracy, academic indicator, Autism, inclusion
PHYSICAL DISABILITY, STIGMA, AND PHYSICAL ACTIVITY IN CHILDREN: A REPLICA STUDY

PHYSICAL DISABILITY, STIGMA, AND PHYSICAL ACTIVITY IN CHILDREN: A REPLICA STUDY

Authors: Markus GEBHARDT| TUM School of Education, Technische Universität München, Munich, Germany, Julio G. MORA| TUM School of Education, Technische Universi...
Year: 2016, Volume: 17, Number: 1
(35 downloads)
Abstract

Introduction: Stereotypes can be reduced through positive descriptions. A stigma that able-bodied adults have towards children with physical disability can be reduced when the child is portrayed as being active. The study found out that a sporty active child, who uses a wheelchair, is perceived as more competent than the sporty active able-bodied child. Objective: This study is a replica study to support the hypotheses and to examine the stereotypes of able-bodied adults towards children with and without (physical) disabilities. Methods: This study presents two experimental replica studies using a 2 (physical activity) x 2 (sporty activities). The dependent variables were the perception of competencies and warmth according to Stereotype Content Model (SCM). Study 1 is an online experiment with 355 students of the Open University of Hagen. Study 2 surveys 1176 participants (from Munich and Graz) with a paper-pencil-questionnaire. Results: The significant interaction effect was not supported by our studies. The sporty able-bodied child was rated higher in competences than the sporty child, who use a wheelchair. Sporting activity only reduces the stigma towards children with a physical disability slightly. Conclusion: The stigma towards children with physical disability can be reduced when the child is portrayed as being active, but the effect was not strong enough to chance the original classification by the SCM.

Keywords: physical disability, stigma, sport, stereo content model, replica study
CELABRATION OF 3RD OF DECEMBER, INTERNATIONAL DAY OF PERSONS WITH DISABILITIES

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

Authors: Maja FILIPOVSKA| Institute of Special Education and Rehabilitation, Faculty of Philosophy, Ss Cyril and Methodius University Skopje, Republic of Maced...
Year: 2016, Volume: 17, Number: 1
(35 downloads)
Abstract

This year as well, the Institute of Special education and rehabilitation celebrated the International day of persons with disabilities. In that occasion, two different events were organized by the Institute at the Faculty of Philosophy. The first event was held on 03.12.2015 and was organized in collaboration with the students of the Institute of Special education and rehabilitation, Faculty of pedagogy “St. Kliment Ohridski” form Skopje, Faculty of architecture, Faculty of Fine Arts and Faculty of Music. In the official part of the program, speeches were held by Stefani Nakova, student at the Institute of Special Education and rehabilitation, dr. Zora Jachova, PhD, head of the Institute of special education and rehabilitation and dr. Velimir Stojkovski, PhD, rector of the University “Ss Cyril and Methodius” – Skopje. Beside the mentioned speeches, the event was enriched by the students from the Faculty of pedagogy “St. Kliment Ohridski” from Skopje with the performance of “Tajno moja” in sign language by Dzengis Memedovski and the presentation of Aleksandar Matovski called “Youth and the Down syndrome”.

Keywords: null
NEWS FOR THE ANNUAL GENERAL MEETING OF THE MACEDONIAN SCIENTIFIC SOCIETY FOR AUTISM

NEWS FOR THE ANNUAL GENERAL MEETING OF THE MACEDONIAN SCIENTIFIC SOCIETY FOR AUTISM

Authors: Filip JURTOSKI| Secretary of Macedonian Scientific Society for Autism Skopje, Republic of Macedonia
Year: 2016, Volume: 17, Number: 1
(35 downloads)
Abstract

On the 25th of December 2015 in „Porta Macedonia“ in Skopje was held the annual general meeting of MSSA. This is the second year that this meeting took place in „Porta Macedonia“, where the ambient and atmosphere are truly at a satisfying level, for which the members expressed their content from the staff services. The annual general meeting began exactly at 13:00 hours, and it was opened by the president of the MSSA, prof. Dr. Vladimir Trajkovski. The president greeted all the present members and thanked them for attending and began with the agenda of today’s meeting. As every year the first item on the agenda was the adoption of the minutes of the Assembly of MSSA from the annual general meeting held in 2014, which was unanimously adopted by the participants. Every year MSSA makes admission to new members. This year as a member was admitted Anita Stojcevska, student of the generation of the Institute of Special Education and Rehabilitation for 2014.

Keywords: null
XI AUTISM-EUROPE INTERNATIONAL CONGRESS

XI AUTISM-EUROPE INTERNATIONAL CONGRESS

Authors: Jasmina TROSHANSKA| Macedonian Scientific Society for Autism, Faculty of Philosophy, Skopje, Republic Macedonia
Year: 2016, Volume: 17, Number: 1
(36 downloads)
Abstract

In the period from 16th to 18th September 2016 in the historic city of Edinburgh the 11th International Congress of Autism Europe organized by the National Organization for Autism from the UK will be held. Theme of the Congress in 2016 will be "happy, healthy and empowered". The Congress will focus on the most recent developments in the field of autism, including causes, genetics, diagnosis, early intervention, treatments, education, support, employment, rights and policies, and many more. The improvement of the science, the rights and services for autistic people will be presented, and an insight into future developments of the events, knowledge and technologies for autistic people that may soon become a part of everyday life will be provided.

Keywords: null
HOW TO SELECT APPROPRIATE STATISTICAL TEST IN SCIENTIFIC ARTICLES

HOW TO SELECT APPROPRIATE STATISTICAL TEST IN SCIENTIFIC ARTICLES

Authors: Vladimir TRAJKOVSKI| Journal of Special Education and Rehabilitation Institute of Special Education and Rehabilitation, Faculty of Philosophy, Univers...
Year: 2016, Volume: 17, Number: 3
(0 downloads)
Abstract

Statistics is mathematical science dealing with the collection, analysis, interpretation, and presentation of masses of numerical data in order to draw relevant conclusions. Statistics is a form of mathematical analysis that uses quantified models, representations and synopses for a given set of experimental data or real-life studies. The students and young researchers in biomedical sciences and in special education and rehabilitation often declare that they have chosen to enroll that study program because they have lack of knowledge or interest in mathematics. This is a sad statement, but there is much truth in it. The aim of this editorial is to help young researchers to select statistics or statistical techniques and statistical software appropriate for the purposes and conditions of a particular analysis. The most important statistical tests are reviewed in the article. Knowing how to choose right statistical test is an important asset and decision in the research data processing and in the writing of scientific papers. Young researchers and authors should know how to choose and how to use statistical methods. The competent researcher will need knowledge in statistical procedures. That might include an introductory statistics course, and it most certainly includes using a good statistics textbook. For this purpose, there is need to return of Statistics mandatory subject in the curriculum of the Institute of Special Education and Rehabilitation at Faculty of Philosophy in Skopje. Young researchers have a need of additional courses in statistics. They need to train themselves to use statistical software on appropriate way.

Keywords: statistical test selection, statistics, scientific article, statistical software
RELATION BETWEEN QUALITY OF LIFE, CHOICE MAKING, AND FUTURE EXPECTATIONS IN ADULTS WITH INTELLECTUAL DISABILITY

RELATION BETWEEN QUALITY OF LIFE, CHOICE MAKING, AND FUTURE EXPECTATIONS IN ADULTS WITH INTELLECTUAL DISABILITY

Authors: Vesna KOSTIKJ-IVANOVIKJ| Special school “Dr. Zlatan Sremec”, Skopje, Republic of Macedonia, Natasha CHICHEVSKA-JOVANOVA| Institute of Special Educatio...
Year: 2016, Volume: 17, Number: 3
(0 downloads)
Abstract

Introduction: Quality of life of individuals depends significantly on the ability to have control over everyday life, realized through the freedom to make choices from available options and self-determination. Objective: To determine the correlation between possibilities for making choices and expectations for the future with the quality of life in adults with intellectual disabilities according self-assessment and assessment by others. Methods: Descriptive, method of correlation and comparative analysis ware applied. From techniques, analysis of documents, surveys with the Quality of life questionnaire by Schalock and Keith and Questionnaire for expectations for the future by Speck, and scaling with the Scale for assessment of the opportunities for making choices by Kishi et al. Sample consisted of 130 intellectually disabled adults and 130 proxies. For establishing connection between the examined phenomena Pearson correlation coefficient (r) was used, at p<0,01. Results: There is a strong correlation between the results obtained from the questionnaires about quality of life and opportunities for making choices, self-assessment r(130)=0,497, p<0,01, assessment by others r(130)=0,482, p<0,01. There is a correlation between the results obtained from the questionnaires about quality of life and expectations for the future, but not very strong, self-assessment r(130)=0,233, p=0,008<0,01, assessment by others r(130)=0,305, p<0,01. Conclusion: There is a correlation between opportunities for making choices and expectations for the future with the quality of life in adults with intellectual disabilities. To improve the quality of life in these individuals, it is necessary to design programs that will develop self-concept, abilities for self-determination and making personal choices.

Keywords: adults with intellectual disability, quality of life, choice making, future expectations, self-assessment
CORRELATION BETWEEN AGGRESSIVE BEHAVIOUR AND STRESS IN PEOPLE WITH INTELLECTUAL DISABILITY IN RELATION TO THE TYPE OF HOUSING

CORRELATION BETWEEN AGGRESSIVE BEHAVIOUR AND STRESS IN PEOPLE WITH INTELLECTUAL DISABILITY IN RELATION TO THE TYPE OF HOUSING

Authors: Daniela TAMAŠ| Department of Special Rehabilitation and Education, University of Novi Sad, Faculty of Medicine, Nenad GLUMBIĆ| University of Belgrade,...
Year: 2016, Volume: 17, Number: 3
(0 downloads)
Abstract

Background: Several research findings indicate that aggression in individuals with intellectual disability (ID) is significantly associated with environmental, housing and living conditions. The aim of this study is to determine levels and forms of aggressive behaviour found among individuals with ID; also examine levels of stress experienced as a result of housing conditions and relationships between aggressive behaviours and stressful experiences encountered among individuals with ID living in different housing types. Method: A total of 122 participants participated in the study, 51 of whom reside in institutions, 38 of whom live with families and 33 of whom participate in supported housing programmes. Following instruments have been used: The Lifestress Inventory, The Adult Scale of Hostility and Aggression Reactive-Proactive (A-SHARP). Results: The results reveal that there is a connection between housing types and levels and forms of aggressive behaviour and the level of stress experienced by the individuals with ID. Aggressive behaviour is least pronounced among the participants living in supported housing programmes (verbal aggression: p=0.001; bullying: p=0.002; covert aggression; p=0.003; hostility affect: p=0.002 and physical aggression: p=0.001). Among the participants living in institutions and with families is no statistically significant difference in terms of the level of any form of aggressive behaviour. Participants from supported housing programmes showed significantly lower levels of stress in comparison to the other two sub-samples (p=0.000). Conclusions: There is a statistically significant correlation between aggressive behaviour among individuals with ID and experienced stress, depending on the type of the participants housing.

Keywords: intellectual disability, aggression, stress, supported housing
CONTEMPORARY APPROACH TO DIAGNOSIS OF GENETIC CAUSES OF INTELLECTUAL DISABILITY

CONTEMPORARY APPROACH TO DIAGNOSIS OF GENETIC CAUSES OF INTELLECTUAL DISABILITY

Authors: Ana PETERLIN | Clinical Institute of Medical Genetics University Medical Center Ljubljana, Slovenia, Borut PETERLIN| Clinical Institute of Medical Gen...
Year: 2016, Volume: 17, Number: 3
(69 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

About Europub

EuroPub is a comprehensive, multipurpose database covering scholarly literature, with indexed records from active, authoritative journals, and indexes articles from journals all over the world. The result is an exhaustive database that assists research in every field. Easy access to a vast database at one place, reduces searching and data reviewing time considerably and helps authors in preparing new articles to a great extent. EuroPub aims at increasing the visibility of open access scholarly journals, thereby promoting their increased usage and impact.