SHEIKHA JAMILA AL QASIMI, “THE TOPIC OF RARE SYNDROMES ASSOCIATED WITH DISABILITIES
On February 27 and 28, 2023, Sharjah City for Humanitarian Services will organize its International Scientific Conference “Rare Syndromes Associated with Disabilities”, in the context of keeping pace with recent developments in genetics and neuroscience. This is part of its contribution to shedding light on the educational and psychological characteristics of these syndromes, and the practical applications of the characteristics in intervention and support of individuals and families.
A group of the most important specialists, doctors, researchers, parents and workers in the field will attend the conference. It aims at raising awareness about the latest developments and medical, practical, educational and rehabilitative practices for people with rare syndromes to provide new knowledge and exchange experiences about educational and rehabilitation services for people with rare syndromes. In addition to improving the quality of life for people with rare syndromes and their families, unifying efforts and coordinating the services provided by different agencies for people with rare syndromes, identify solutions to some issues and difficulties by looking at some successful experiences.
Sheikha Jamila bint Muhammad Al Qasimi, Director of the City, has confirmed that the interest in studying the cognitive, behavioral, linguistic and educational aspects of each of these syndromes is one of the objectives of this conference. This relates to the vision and objectives of Sharjah City for Humanitarian Services in the production and dissemination of modern knowledge at the local and international levels, support for attention to the issues of persons with disabilities and their families without discrimination, and the networking between various authorities and institutions, including educational, medical, social, economic, media and others. The city wants to mobilize their efforts in favor of advocacy, empowerment and inclusion of all persons with disabilities.
She said, “The issue of rare syndromes associated with disability is an important field that calls for more research and attention, especially with regard to its educational and psychological aspects. These aspects does not receive enough attention that matches their importance and lasting effects on the lives of individuals and families. The successive recent developments in genetics sciences in recent decades shed more light on a large group of these syndromes and facilitated the ways of diagnosis and discovery. Thus, professionals would be able to take appropriate intervention measures”.
When we turn to global statistics in the field of rare syndromes, we find that there are no comprehensive statistics about them. Unlike rare diseases, for which there are comprehensive statistics in their field, while we find “scattered” statistics in the field of rare syndromes according to the type of syndrome.
The Genetic and Rare Diseases Information Center reports that there are about seven thousand rare diseases (including rare syndromes), "the rarity of a disease within the European Union is defined as less than 1 in every 2000 people".
As for the prevalence of some rare genetic syndromes associated with disability, the National Organization for Rare Disorders provides information on the prevalence rates of many of them. For example, the prevalence of Prader-Willi syndrome is one case in 10,000 to 30,000. Angelman syndrome, one case in every 12,000 to 20,000 of the general population. Williams’s syndrome has a prevalence of 1 in 10,000 to 20,000 births in the United States.
Sheikha Jamila talked about the percentage of students with rare syndromes in the city, which is 4.46% of the total students with disabilities who received special education services in Sharjah City for Humanitarian Services.
Four Themes
The international city conference includes four themes. The medical theme, in which the working papers and interventions will discuss a set of points. The most important of which are detection, early diagnosis, facilitating access to specialized care and preventive treatment, psychological support for people with rare syndromes, medical interventions in critical cases, genetic tests, and nutrition therapy.
The educational and rehabilitation theme would include assessment methods and measurement methodologies used with people with rare syndromes, appropriate educational programs and environments. Behavioral, psychological and cognitive patterns characteristic of some syndromes will be discussed. In addition to supportive services (Assistive Technologies, Communication, Physical and Occupational Therapy), and the integration of students with rare syndromes in schools.
Within the family counseling theme, we will talk about supporting families of people with rare syndromes, helping families to obtain services at an early date, and about genetic counseling for families of people with rare syndromes, with experiences, and stories.
The Art Therapy theme will address the creative aspects of people with rare syndromes, the impact of art on developing their personal skills, and the role of the media in raising awareness of rare syndromes.