El Síndrome X frágil contado desde dentro

Fragile X syndrome as told from an insider


What is fragile X syndrome?

Fragile X syndrome (FXS) is an inherited genetic conditioncaused by a defect in the FMR1 gene located on the X chromosome; this gene provides instructions for making a protein called FMRP.Mutations in the FMR1 gene prevents the gene from producing FMRP, which is necessary for normal neuronal development.

FXS affects 1 in 4,000 males and 1 in 6,000 females, and 1 in 250 carrier females show no clear symptoms. Although it is a very rare syndrome, it is the most commoninherited cause of intellectual disabilities.

Fragile x syndrome characteristics

FSX causes a range of problems includinglearning disabilities and intellectual delay. Individualswith FXS may have features of autism spectrum disorders, as well as features of ADHD and impulsivity.

The clinical presentation of FXS varies greatly among males and females.Females with FXS are less impaired than their male counterparts regarding cognitive functioningand have a higher rate of learning disability in mathematics.In addition, females with FXS are more vulnerable to social anxiety.

The Associació Catalana Síndrome X Fràgil

The Associació Catalana Síndrome X Fràgil (the Fragile X Syndrome Association of Catalonia) was founded in 1995 by a group of parents whose children were diagnosed with FXS. At present, we are an organization with more than 180 members including family members and professionals. One of our basic goals is to welcome and provide families who have receiveda diagnosis with information. We are in Barcelona and our website is: http://www.xfragil.cat/.

Our experience with NeuronUP

A little more than a month ago, we started PAI (Spanish acronym for Early Childhood Care Program), a new line of work focused on cognitive stimulation of children between 6-12 years of agewith FXS. For this purpose, we are using the NeuronUP platform, which offers a great variety of interactive material usingtablets or computers.

What do we train with NeuronUP?

Our PAI approach is to train attention primarily, since we observed that it was the function most affected in the children at our association due to their high levels of impulsivity. Moreover, we consider that attention is basic for acquiring different kinds of more complex knowledge (language, comprehension, numbers, etc.). Without attention, learning is practically impossible.

Regarding attention, we focus on two types: sustained attention and selective attention. We combine the NeuronUP web platform with two other types of materials: manipulatives (interlocking blocks, puzzles, etc.) and worksheets in paper format.

Prior to starting training, we carry out an initial assessment of each child as well as a design of the specific goals for each one of them while alsotaking into account the needs and concerns of their familiesafter an initial interview with them.

How has NeuronUP helped us?

NeuronUP allows us to work comfortably on a tablet, as well as to design personalized activities for eachchild (e.g., adjust the difficulty level by changing the number of items, displayingthe timer or not, selecting the autocorrect option, etc.). It also allows you to plan the sessions and save the exercises with the names of each client.

The range of material available is another factor that enhances the sessions, as well as the type of activities which, by being interactive and incorporating sounds, increase the child’s motivation. Correct answers have a green check markand a sound that lets you know that the answer is right.

Going forward

We are in the middle of our pilot project and we are already beginning to see small improvements in the children. Therefore, we believe that NeuronUP could be a very good working tool for the implementation of our project starting September.

We move forward!

“The mind that opens to a new idea will never return to its original size.” 

 Albert Einstein.


Author:Laura Ruiz, child psychologist Programa d’Atenció a la Infància. Associació Catalana Síndrome X Fràgil (Early Childhood Care Program. Fragile X Syndrome Association of Catalonia).


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