ASA-Asociatcion Sindrome de Angelman Spain
“Let’s make the journey together” Conference 10-11th May-Madrid
This past 10th and 11th of May, Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of let’s make the journey together for parents and professionals who deal with our children.
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledge. The association undertook the commitment of holding this conference during an assembly. We do believe that our expectations became self-fulfilling, both in participation as well as chosen issues.
In addition, you can find some brief summaries of conference presentations. Videos will be available to anyone who is interested on our YouTube channel.
Genetic aspects of Angelman Syndrome. PhD Pablo Lapunzina, head of the Institute of Genetics and Molecular Medicine (INGEMM), the Hospital La Paz (Madrid), member of the advisory committee at Dravet Syndrome Foundation PDh.
Pablo Lapunzina, made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms. He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms. Then, he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion, paternal uniparental disomy, mutation in the UBE3A gene and clinical cases), he also talked about the occurrence of each one. He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome.
To conclude, he delved into the key themes: sleep disorder. He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders.
Treatment of behavioral disorder related to Angelman Syndrome, PhD Ignacio Sanchez Cubillo, clinical neuropsychologist of adults, children and youth in brain injury (Red Menni, Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca).
Phd Sanchez Cubillo, neuropsychologist, tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children. Behaviour always has a reason, they pursue an objective (attention, power, revenge, etc…) and we need to figure out these objectives in order to understand their behaviour, at the same time we will be able to modify misconduct.
According to Pdh. Sanchez, it is essential to analyze in depth the context of behaviour that needs to be corrected. For that reason, it is necessary to take into account what happened before and during the misconduct and value our reaction to it. The behaviour of our children will be modied when we modify our reaction to such conduct. This is why it is essential to know if our reaction was correct or not.
During his presentation, Pdh Sanchez analyzed and explained the guidelines you should follow with real cases.
Introduction to PECS workshop PhD Sonia Vilatela Verdes, speech therapist and managing director at Pyramid Educational Consultants – Spain (www.pecs-spain.com).
Sonia Vitatella Verdes, introduced us to picture exchange communication system (PECS). The rst thing that she explained to us is that we are not always using PECs when we are using any king of images, it is essential a picture exchange among users with a clear feedback intention. PECS starts teaching how to carry out spontaneous requests, and then to add additional communicative functions such as answer questions and comment.
PECS has 6 phases:
•PHASE I: how to communicate. The child is trained to initiate communication, with one picture at a time (non discrimation)
•PHASE II: distance and persistence. Aid and support are progressively eliminated.
•PHASE III: Discrimation. The child learns to select the appropriate picture (simple discrimation). Then, he/she learns conditional discrimination.
•PHASE IV: the child learns to construct simple senteces by using expressions such as “I want…”
•PHASE V: the child is taught to respond to the prompt: “what do you want?”
•PHASE VI: the child is taught to make comments about what they see, hear,etc.
Sonia spoke about the importance of making generalizations in every possible context: family, school, etc.
When epilepsy is only a part of the clinical case: advances and challenges in the treatment of drug-resistant epilepsy, PhD Ana Mingorance, head of Technology and Innovation at Dravet Syndrome Foundation, she works in Brussels as specialist in epilepsy, Alzheimer and Parkinson diseases. Dr. Ana Mingorance, analyzed in depth the various types of epilepsy and the
incidence each one has. According to her, drugs are progressing rapidly to control seizures, although it is still unknown what causes the seizures. She commented on the fact that some kind of epilepsies cannot be controlled with drugs. Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting, convulsion and possible solutions to these problems. According to Mingorance, it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the effect that they have on children.
At the end of our Professional Conference we had a round table, exclusively parents of children with Angelman syndrome. The aim was to create a space in which everybody can talk about concerns, share experiences and worries. Several issued emerged during the topic, including sleep disorders. We discussed and raised issues about routines, whether it is important or not to establish and keep routine associated with bedtime. We also talked about the options that each family has selected for their children: sleep alone in a room or share the room with his/her parents, end up with him/her when he/she wakes up, etc. Sphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at night.
We also share some tricks to make daily life easier, for instance get kids to wear their glasses, collaboration during bathtime, dress, undresses, ect…
We could have stayed talking for a few hours; the time seemed too brief for too many things that we wanted to share. It was a great group therapy group which helped to bring emotions to the surface.
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel.