Deficiencies in prevention, diagnosis, treatment and support faced by people with fragile X syndrome

Deficiencies in prevention, diagnosis, treatment and support faced by people with fragile X syndrome

On 28 October 2020, Spanish Member of the European Parliament (MEP) Mónica Silvana González of the Group of the Progressive Alliance of Socialists and Democrats in the European Parliament, posed a written parliamentary question to the European Commission:

“Since persons with disabilities are one of the groups most affected by the pandemic, and with European Fragile X Syndrome Awareness Day held just a few weeks ago on 10 October, it now seems a good time to recall the Convention on the Rights of Persons with Disabilities, to which the EU is party, and which sets out mandatory standards for the rights of persons with disabilities.

I would like to urge the Commission to put all measures in place to guarantee compliance with the obligations contained in Article 4 of the Convention. In that regard:

1. Is the Commission assessing ways of improving existing techniques for early diagnosis of fragile X syndrome?

2. What tools are being considered to improve care for people with fragile X syndrome? For example, is there a specific budget item for research into this and other diseases?

3. Is there a strategy in place to alleviate job losses among caregivers, health workers, teachers, etc., and thus avoid worsening the situation of people with fragile X syndrome and other disabled people as a result of COVID-19? Similarly, is there a strategy to ensure full social integration and equal employment opportunities for people with the disorder?”

On 15 February 2021, Innovation, Research, Culture, Education and Youth Commissioner Mariya Gabriel, responded on behalf of the European Commission stating:

“1. The Commission does not assess ways of improving existing techniques for early diagnosis. Opportunities for research and innovation improving diagnostic methods may arise in Horizon Europe.

2. The Commission supports 24 European Reference Networks (ERNs) set up in 2017 under the directive on patients’ rights in cross-border healthcare. ITHACA, on congenital malformations and rare intellectual disability, includes the Fragile X Syndrome (FXS).

Research on FXS is supported via the EU Framework Programmes (FP) for research and innovation: FP5, FP6, FP7 and Horizon 2020. There is no dedicated budget item for research on any specific rare disease, but several projects have and will further advance understanding of mechanisms in FXS and identification of the gene defects associated with FXS, catalysing progress in developing diagnostic methods. For example, NeuroStemX develops an in vitro model of FXS; METAFRAX studies the mechanisms of synaptic plasticity alteration as a basis for new FXS therapeutic targets.

3. The EU is a party to the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD) and bound by its legal obligations. EU funds may support the Member States to fight negative consequences of COVID-19, in particular in relation to those hit by the pandemic such as service providers, health workers and others. Once adopted, the future Union of Equality: Strategy on the Rights of Persons with Disabilities, main tool for UNCRPD implementation at the EU level, may enhance the social inclusion of people with disabilities including people with FXS.”

Source: https://www.europarl.europa.eu/doceo/document/E-9-2020-005856_EN.html

Photo Credit : https://pixabay.com/vectors/autism-awareness-month-national-6105112/

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