RARE SYNDROMES CONFERENCE SPEAKERS AND PARTICIPANTS, “THE PATRONAGE AND ATTENTION
Her Excellency Sheikha Jamila bint Muhammad Al Qasimi, President of Sharjah City for Humanitarian Services (SCHS), directed her sincerest thanks and appreciation to His Highness Sheikh Dr. Sultan bin Muhammad Al Qasimi, Member of the Supreme Council and Ruler of Sharjah. He sponsored and opened the first international scientific conference of its kind in the Arab world “Rare Syndromes Associated with Disability”. SCHS organized the conference in partnership with the University of Sharjah and the Ministry of Health and Prevention on February 27 and 28, 2023. The event took place at the Student Forum Hall, at the Boys College - University of Sharjah, with the participation and presence of a large number of professors, doctors, specialists, researchers, interested persons, students, parents and workers in the field.
Her Excellency Sheikha Jamila hopes that relevant institutions would concert efforts on local, regional and international levels to provide the best services consistent with the best and latest medical, educational and rehabilitative practices for people with rare syndromes. This would ensure their integration into society and would provide them with appropriate opportunities in life and jobs.
Sheikha Jamila referred to the pioneering role of SCHS, in cooperation with the Ministry of Health, in approving the examination of cases of “PKU” “phenylketonuria” for children in the United Arab Emirates immediately after their birth, to ensure that they do not suffer from a rare genetic disorder that may lead to serious health problems in the future.
SCHS President also thanked all the speakers and participants in the conference. She values their efforts and endeavors to make conference’s sessions and workshops a success through the valuable working papers, interventions and fruitful discussions. These contributions enriched conference themes and contributed to the exchange of ideas and experiences.
Recommendations
The speakers and participants in the international scientific conference "Rare Syndromes Associated with Disability" concluded their work at the conference on Tuesday, February 28, 2023, with a set of recommendations. Her Excellency Mona Abdul Karim, Director of SCHS and Chairman of the Conference read these recommendations. Among the most important of these recommendations are:
Emphasizing the importance of conducting genetic tests before marriage, especially in cases of consanguineous marriage. Couples should also seek genetic counseling before marriage in the event that the family previously had a child with rare syndromes. Speakers and participants urged the concerted efforts of specialists in medical fields such as human genetics, neurology, psychiatry, and medicine children, and the efforts of specialists within the educational and social fields. This should aim at providing comprehensive support to families of children with rare syndromes.
In addition, the recommendations included the affirmation of the right of students with rare syndromes to comprehensive effective integration during all stages of education up to higher education. Families have the right to obtain early assessment and diagnosis characterized by medical, educational and psychological accuracy. In addition, they should receive adequate information and reports that include Independent recommendations with details.
The participants in the Rare Syndromes Conference also recommended expanding studies dealing with the educational, psychological and social aspects of people with rare syndromes. They must translate relevant modern foreign sources and researches, and emphasizing the importance of using modern therapeutic methods, especially art therapy and preparing cadres capable of providing services at the highest levels of quality. In addition, they shall seek to exchange experiences with the aim of establishing associations specialized in rare syndromes and support groups for people with rare syndromes and their families.
The next international scientific conference
At the conclusion of the "Rare Syndromes Associated with Disability" conference, SCHS honored speakers. Then, Her Excellency Mona Abdul Karim announced the forthcoming International Scientific Conference on "Adapted Sports" in strategic partnership with California State University - Chico.
Themes and sessions of the conference
More than 50 speakers contributed their working papers and experiences to the conference sessions, which were included in its four themes.
Medical theme
Within the first session of the conference chaired by His Excellency Dr. Abdulaziz Saeed Al Muhairi, Chairman of the Sharjah Health Authority, Prof. Dr. Nagwa Abdel Majeed, Professor and Head of the Department of Human Genetics and Disability, at the National Research Center in the Arab Republic of Egypt, spoke about genetic diversity within the Arab population. In addition to the fact that the rates of consanguineous marriage are often high. The numbers of family members are often large and constitute conditions that facilitate the emergence and discovery of rare syndromes, which explained in particular by autosomal recessive inheritance. Consanguineous marriage has a long history and respected in Arab culture.
The main speaker at the session, Dr. Nagwa, explained that studies show a large percentage of the presence of consanguineous marriage in "Egypt", from 33% to 42%. According to the World Health Organization, the term congenital anomaly syndromes includes any morphological, functional, biochemical or molecular defects that may develop in a fetus from conception to birth.
She added, "Arab countries shows great progress in preventing and controlling infectious diseases. However, rare genetic disorders remained a major health problem. When a child is born with a disability, the family must deal with stress, grief, and challenges that may lead to a crisis or even disruption of family life”.
The medical theme also discussed some rare syndromes in detail. Clinical identification of rare phenotypes leading to a targeted molecular testing approach can empower the clinician in answering additional questions about recurrence risk and prognosis. It will lead to better knowledge of their disease-causing processes, better opportunities for treatment, counseling and prevention.
Pediatrician Dr. Latifa Mahmoud Maraqa, and Dr. Safwan Yousef Al-Dababneh, Head of the Department of Prevention of Genetic and Congenital Disorders at the Jordanian Ministry of Health, spoke in their paper on the molecular epidemiology of “Phenylketonuria in Jordan and the medical and nutritional challenges”. They also talked about the phenotypes and the main challenges in providing nutritional management for patients with phenylketonuria.
After that, Dr. Salwa Salem Khalaf Al Hosani, a Consultant Pediatrician and Adolescent Psychiatrist at Sheikh Khalifa Medical City, spoke about Dravet Syndrome. Then Dr. Ali Saber Muhammad Hassan, Consultant Neurologist and Psychiatrist, spoke about the association of autism and tuberous sclerosis.
He explained that tuberous sclerosis is a rare syndrome that results from a genetic defect. It affects many organs and tissues in the body, including the brain. Its prevalence is one in every 6,000 people. About 90% of people with tuberous sclerosis show symptoms of developmental disorders, including autism spectrum disorder, with a rate ranging between 17-63%. While the incidence of autism spectrum disorder in general is 2%. This means that there are causes and mechanisms that leads to the combination of the two disorders.
He said, "Because early diagnosis, even for a fetus with tuberous sclerosis, is available and the genetic mutations that cause tuberous sclerosis are known and their effect on the structure and arrangement of tissues and connections in the brain is known, this is a great opportunity to search for a treatment for autism spectrum disorder. There are drugs that have proven useful in varying proportions. Patients with tuberous sclerosis, the first of which is Rapamycin, Everolimus, which reduces excessive activity in the formation of unfit tissues within the patient’s body. The second is Bumetanide, which restores the balance of chloride in brain cells. The third is Vigabatrin, which treats an early electroencephalographic disorder and thus reduces the likelihood and severity of autism spectrum disorder in children with tuberous sclerosis”.
The session concluded with a recording by Dr. Soma Shanker, Chair of the Department of Genomic Medicine at the University of California, in which she talked about the experience of comprehensive exome sequencing in the diagnosis of rare genetic diseases.
Educational and Rehabilitative Theme
In the educational and rehabilitation theme, which Professor Dr. Muhammad Ali Fateha, Director of the two campuses - Al Ain and Dubai, at Abu Dhabi University, chaired, the main speaker, Professor Judy Rochelle Carr, former Minister of Education in Canada, emphasized human rights, policies and legislative reform on inclusive education.
Then Ms. Samia Mohamed Salih, Director of Al-Wafa School for Capacity Development, Member of the Research Team, Member of the Scientific Committee of the conference, spoke about the experience of SCHS in working with students with rare syndromes associated with disability.
Then, Prof. Dr. Aniella Gizara and Prof. Rachel Bennett from the Perkins International Foundation spoke about visual impairment in children with rare syndromes. Then, Dr. Amal Ezzat Ali Bakr, a Psychological and Educational Consultant, Speech Specialist, and Chairman of the Board of Trustees of the Hope City Foundation spoke about the activities of sensorimotor integration and their effects on People with Batten Syndrome at the Hope City Foundation.
Mr. Wael Ahmed Allam, Director of the Educational and Rehabilitation Services Department at SCHS, Member of the Research team - Member of the Scientific Committee and Ms. Nana Abdullah Mansour, Senior Educational Supervisor at the Sharjah Autism Center, affiliated to SCHS, presented a study that talked about the profile of cognitive abilities and adaptive behavior among children with Dandy-Walker syndrome. It is a comparative study with children with Down syndrome.
The second session
In the session chaired by Dr. Bushra Ahmed Jassim Obaid, Head of the Education Department at the College of Arts, Humanities and Social Sciences at the University of Sharjah, Dr. Yomna Nasouh spoke about inclusive education in higher education institutions. She presented a case study of a student with Prader-Willi syndrome at the University of Sharjah.
After that, Dr. Abdullah Al-Najjar, Executive Director of the Kharma Center for Autistic Children, presented a working paper on the mechanisms of diagnosing and detecting Williams syndrome in special education centers in Palestine. Dr. Suhair Abdel Hafeez Omar, a Consultant for Special Education and Empowering People with Hearing and Visual Disabilities and their Families, presented a case study on Usher syndrome. She explained its relationship to the quality of life of persons with visual disabilities.
Then, Prof. Dr. Ahmed Saeed Abdel Aziz Ibrahim Salih, Assistant Professor of Special Education at Taibah University, presented a working paper entitled the Effectiveness of a Program Based on Mental Alertness in Developing Self-Advocacy Skills for Women with Turner syndrome. To conclude the session, Mr. Mohamed Fathi Awad Stiti, a Physiotherapist at the Center Physiotherapy and Occupational Therapy in SCHS presented a case study entitled the Experience of Physiotherapy with a 3-year-old child with Angelman Syndrome.
Family counseling theme
The family counseling theme began its work with the beginning of the second day of the conference. Dr. Asmaa Muhammad Al Darmaki, Director of SCHS Branch in the Eastern Region in Kallba chaired its first session. Ms. Samia Badih Muhammad Ahmed, Director of the German University in Cairo, and Mr. Abdel Fattah Ahmed Mansour from the Ber Al-Aman Society talked about their experience in caring for children and supporting the community and NGOs.
Dr. Ghaithan Saleh Ali Al-Omari, Head of the Special Education Department at Taibah University, discussed in a study the quality of challenges facing mothers of children with Charge syndrome from their point of view. The study aimed to know the challenges facing mothers of children with Charge syndrome in the Kingdom of Saudi Arabia, by knowing the challenges that they face.
Professor Nafisa Muhammad Tawfiq, Chairman of the Board of Directors of the Emirates Rare Disease Society, presented a working paper entitled "We Embrace our Rare Heroes to Make a Difference". She emphasized that worldwide, there are more than 300 million people living with one or more than 6000 specific rare diseases . Rare diseases currently affect 3.5% - 5.9% of the world's population.
Prof. Dr. Mohamed Al-Zeyoudi, Acting Head of the Department of Doctoral Programs at the College of Graduate Studies at Mohamed bin Zayed University for Human Sciences, and Dr. Ayman Ramadan Zahran at Mohamed bin Zayed University for Human Sciences presented a working paper on Williams’s syndrome in children. It is an exploratory study on behavioral patterns and family psychological support for them.
Dr. Fatima Ahmed Al-Gharabawi and Dr. Nora Nasser Salim Al-Karbi from the University of Sharjah presented a working paper on the rare syndrome in the Emirati society. It is a sociological reading of the forms of support for families of people with rare syndromes. The study aims to learn the information, which members of the Emirati society know about rare syndromes associated with disabilities in the Emirati society. The study does this through the dimensions of general knowledge about diseases, and knowledge about the types of treatment provided to this group". The study used a social survey in the sample that included 110 students from the University of Sharjah in the "Faculties of Arts" Humanities, Communication, Law and Sharia, and Medicine.”
Dr. Suhair Safwat Abdel Majeed, Professor of Sociology at Ain Shams University, presented a working paper on "Supporting Families of People with Usher Syndrome Associated with Visual Impairment". Ms. Maryam Mohamed Al Mazmy spoke about her experience. She is the guardian of a student with rare syndromes.
A college student with Usher syndrome
In this session, the student Ahmed Reda, who is one of the people with Usher syndrome, is studying Computers and Information at the University of Sharjah. He is in his third year at collage. He discussed the most prominent characteristics associated with the syndrome and the challenges he faces in order to achieve his dreams, leading to work within the field that he masters.
Art Therapy theme
In the Art Therapy theme, Dr. Nadia Mahdi Al-Hassani, Dean of the College of Fine Arts and Design at the University of Sharjah, chaired the first session. Dr. Muhammad Yusuf Ali Al-Hammadi, the main speaker and Assistant Professor at the College of Fine Arts and Design at the University of Sharjah, presented a working paper entitled “The Role of Art Therapy in the Services provided to People with Rare Syndromes”. Ms. Amna Chandoul, a Special Education Teacher at the Cultural Center in Tunis, presented a paper entitled “The Role of Art Therapy on Children with Rare Syndromes Associated with Disability - Cohen’s Syndrome as an Example.”
Dr. Safaa Gharsli, a Researcher specializing in Art Therapy at the University of Paris-Sclay, presented a working paper entitled "The Rehabilitation Dimension of Creative Art Therapy Protocols According to the Stage of Rett Syndrome Development". She talked about the visions and systems developed in alternative therapies, specifically creative art therapy for Rett syndrome, which is one of the rare syndromes. It is of genetic origin, which may be associated with some cases of autism, such as Asperger's syndrome.
Ms. Sawsan Abu Al-Enein, a First-Grade Teacher at Al-Wafa School for Capacity Development affiliated to SCHS, presented a case study on the impact of the Music Therapy Program on the development of cognitive skills in children - Dandy Walker. It is about knowing the impact of the Music Therapy Program on developing cognitive skills in children with Dandy Walker syndrome. Music is an effective means of communication that professionals use in therapeutic, rehabilitation and training programs.
Dr. Rehab El-Gabaly, a University Professor at the Higher Institute of Specialized Education at Manouba University, talked about the role of music therapy in developing cognitive and social skills in children with Williams’s syndrome. Whereas, Dr. Manal Eleiwa and Eng. Sarah Samir Ali Nassar from Cluster Workshop Company for Training and Rehabilitation presented a working paper entitled The Impact of Arts on Developing Personal Skills for Individuals with Rare Syndromes, which is a case study of Tourette's syndrome and art therapy interventions.
Workshops
The first workshop was entitled "The Role of Occupational Therapy in Working with People with Rare Syndromes". Mr. Muhammad Fawzi Youssef, Director of the Early Intervention Center affiliated with SCHS; Member of the Scientific Committee of the Conference chaired the workshop. Ms. Manar Rashid Salih Hawashin and Ms. Aseel Atef Ahmed Tayeh, Two Specialists in the Physiotherapy Center of SCHS, presented a workshop that included an interactive activity to know the group and determine the workshop’s outputs through the activity of the Internet by analyzing one of the daily life skills.
The workshop also mentioned the fields of work of the occupational therapist, the aspects he works on.
The mechanism of action of occupational therapy, and after presenting the theoretical material and clarifying the role of occupational therapy in general, the attendees were divided into two groups, each group discussed a specific syndrome through a case study. Each group was asked to find some appropriate interventions for the case at hand based on the areas and interventions that were previously explained
Each group gave a simple 10-minute presentation to convey the experience learned to the entire audience.
Dr. Ibrahim Al-Tayeb Mahmoud, an Assistant Professor at the University of Sharjah - College of Medicine - Department of Family and Community Medicine and Behavioral Sciences, member of the Scientific Committee of the conference, and Dr. Rehab Al-Jabali presented a workshop on "Music Therapy for People with Rare Syndromes". They said that music therapy is a means of communication and expression with others. It deals with the self and treats many health problems, psychological and physical. Music contributes to improving the methods of intervention with people with rare syndromes and helps the interveners to acquire new ways to communicate with them by using music as an alternative treatment to improve ways of communication.
As for the workshop on "Charge's Syndrome. It is one of the causes of severe and multiple disabilities". It was chaired by Dr. Noha Nasser Al-Suwaiji Al-Zaabi, a Genetic and Metabolic Diseases Consultant at the Ministry of Health and Prevention, a member of the Scientific Committee of the conference, and Professor Bassem Abdel Ghaffar, a Psychological Counselor at the University of Sharjah, spoke about reviewing physical and developmental features for children with Charge syndrome. It aims to increase educators' awareness of its signs and symptoms and to discuss the impact of these traits on growth and development, unique educational needs, and best educational practices for intervention.