Open Seminar on Congenital Cerebral Hypomyelination
Report on the tenth Open Seminar on Congenital Cerebral Hypomyelination
Ken INOUE
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry
Kimiko DEGUCHI
Department of Anatomy, Keio University School of Medicine
Introduction
The tenth Open Seminar on Congenital Cerebral Hypomyelination was held on Sunday, July 17, 2016. This seminar has been held every year since 2009 by groups carrying out research on this disease The series have been held mainly for patients and their families, as well as people engaged directly in the treatment and care of patients. It was launched at the request of the relatives of patients with congenital cerebral hypomyelination, as they have few chances to obtain information about this rare condition. This seminar is an opportunity not only to explain the characteristics of the disease and the current status of treatment and research in simple terms, but also to present the results of the groups carrying out research on this condition directly to patients, as well as a venue where patients can ask specialists questions in person. It also plays a major role as a venue where patients and their families can come together and build friendships, and has laid the foundation for the establishment of a Parents' Association for the parents of children with congenital cerebral hypomyelination. The theme of this year's seminar was "Advances in Software Tools," with Mr. Isamu Fukushima, a teacher at the Fukushima Municipal Minami-Fukushima School for Students with Special Needs, invited to give a Special Lecture. This seminar is held every year on the Sunday before Marine Day (a national holiday that falls on the third Monday of July), and every year the number of families attending the meeting is increasing.
Venue
Similar to last year, the venue was the Conference Room in the National Institute of Advanced Industrial Science and Technology (AIST) Tokyo Waterfront Center near Odaiba. The room is of good size and is well equipped, with desks laid out, providing plenty of space to bring in buggies, and yoga mats are laid out at the back so that infants and tired child patients can listen to the seminar while lying down. A diaper-changing space is also set up in the neighboring room, ensuring every possible measure to enable participants to bring their children with them.
Participants
As every year, leaflets were prepared to publicize the seminar, and these were distributed at the Annual Meeting of the Japanese Society of Pediatric Neurology and sent out to members of patients’ associations via the Parents' Association. The seminar was also announced on the websites of research groups. As a result, 59 individuals belonging to 18 families participated in this year's seminar, including 16 children with congenital cerebral hypomyelination. Students studying genetic counseling and from a nursing university, as well as teachers, welfare center staff, and other general participants brought the total number up to 65 participants. The seminar staff included 24 volunteer childcare assistants and 10 research group members and others, and hence, a total of around 100 people took part.
Organizing Staff
Carrying on from last year, this year's seminar was organized jointly by two research groups that receive research funding from the Japan Agency for Medical Research and Development (AMED; Professor Inoue's group, funded by the Practical Research Project for Intractable Diseases) and the Ministry of Health, Labour and Welfare (MHLW; Professor Osaka's group, funded by grant-in-aid for scientific research). It was also supported by AIST, which provided the venue. In addition to Professor Inoue and Professor Osaka, both of whom gave presentations, three other members of these research groups also took part and were able to respond to a range of questions from the family members of patients. Members of the Parents' Association were responsible for administrative tasks, such as staffing the reception desk, ensuring the smooth running of the seminar.
Examinations
Since last year, pediatric neurologists who are members of the concerned research groups have provided examinations and advice in conjunction with the seminar. This year 12 children with congenital cerebral hypomyelination were examined after having registered in advance. These examinations were carried out using a severity assessment scale created by the research group This year, some children were examined for the second time, which helped in evaluating the practicability of the assessment scale. This was also an important opportunity for family members to question specialists directly about their children's symptoms and ask their opinions.
Presentations
This year's seminar included four presentations. Professor Osaka and Professor Inoue give presentations every year on behalf of their research groups, on the basic understanding of the various diseases concerned and providing information mainly on the development of treatment methods and advances in research on clinical assessment. This year, in addition to covering those areas, Professor Osaka also provided information on a website developed by his research group, as well as useful information for patients on the systems of subsidized medical costs for children with specified chronic diseases and those with designated intractable diseases. Professor Inoue described the basic research being conducted by his group with the aim of developing methods of treatment and the preparatory status of clinical studies on curcumin, discovered as a result of basic research. In addition to these presentations, Mr. Isamu Fukushima, a teacher at the Fukushima Municipal Minami-Fukushima School for Students with Special Needs, was invited to give another Special Lecture, after his lecture three years ago, titled "Utilizing technology using smartphones or tablets on other subjects too." In that lecture he had addressed the role of information technology and latest tools utilized in teaching and caring for children with severe mental retardation. At the conclusion of his lecture, he offered demonstrations and the opportunity to experience these tools directly, giving children with congenital cerebral hypomyelination the chance to handle and use the devices. Dr. Yoshifumi Nishida of AIST also gave a presentation on the project for preventing accidents in the living environment, made possible by widespread data analysis using artificial intelligence, entitled "Using the Internet of Things (IoT) to turn daily life into science in the Satellite Living Laboratory." Finally, members of the Parents' Association, which was launched last year, introduced their children. The families of patients described the course followed by their children with congenital cerebral hypomyelination, which was highly significant as these children were in our midst to be clearly recognized and shared. It was also highly valued by families who had only recently received their diagnosis, as it helped them to know what to expect in the future. After the presentations, the customary session for questions was held, with members of the research groups offering advice on everyday issues and other points from a specialist standpoint.
Parents' Association Annual Meeting and Discussion Meeting
Following on from last year, the members of the Parents' Association gave a presentation in a lecture format about their children and the disease, using slides to describe their disease course thus far and other issues. This year, after an introduction by the Chair of the Parents' Association, two members stepped up to the podium. This program was extremely well received, and not only increased the presenters' motivation but also enabled the families in the audience to understand and sympathize with familiar issues, such as ways of coping with the disease in daily life as well as their worries.
Childcare
As in previous years, childcare was provided to enable parents to focus on the seminar, with children taken to play in the Miraikan (the National Museum of Emerging Science and Innovation) next door to the venue. The excursion was led by Dr. Deguchi, a pediatric neurologist who is a member of one of the research groups, with the participation of volunteer staff including nurses and other professionals.
After the seminar had ended, a discussion meeting was held by the Parents' Association. The volunteers who had helped to provide childcare were also able to participate in this Discussion Meeting, demonstrating the high quality of the people associated with this seminar every year. Setting low barriers for entry of attendees to the discussion session made this an effective initiative in a sense separate to that of the seminar itself.
