About this Research Topic

Background

Rare diseases [RDs] are, usually, multisystemic conditions affecting < 5 in 10,000 individuals in the general population, i.e., over 300 million persons worldwide. More than 50% of RDs affect children with different phenotypes and onsets due to genetic variability. Nearly 80% of these persons have neurological manifestations causing life-long physical (mostly motor), intellectual and psychosocial disabilities of various types and severity. The main neurological RDs include nervous system malformations, disorders of neurodevelopment, epileptic encephalopathies, neurometabolic and neuromuscular diseases, mitochondrial and neurotransmitter disorders, movement disorders including ataxias and spastic paraplegias, immune-mediated neurological disorders, DNA defect repair syndromes, and neurocutaneous syndromes. Affected people with neurological RDs experience multiple accesses to different health services and multifaceted, often not conclusive treatments. Among the few conditions which can be currently cured, care is entrusted to forms of tailored management and symptomatic medications, coupled with programs of physical/neurocognitive rehabilitation. The time spent by these children in rehabilitation affects school attendance and performance, study time, playful hours, and leisure activities; this is aggravated in adolescents and adults, including parents by absence from employment and job productivity. In addition to that, in many low/middle-income countries >50% of people with RDs do not receive the rehabilitation services they require, and the existing rehabilitation services in 60-70% of countries have been unsettled due to the current COVID-19 pandemic. One of the most urgent challenges for RDs, thus, is probably the regular/steady availability of in-home care programs for monitoring and rehabilitating practices without interferences with daily activities. The need for continuity of special care encourages researchers to put in action new strategies, combining innovative approaches for motor learning based on emerging technologies for telemedicine, such as ad-hoc video game-based therapy, dynamic human movement harmonic analysis, music, and art therapy, objective indices to assess harmonicity in human movements, artistic and musical feedback- based exergames; web-cam marker-less motion capture systems for motion tracking and analysis of kinematic patterns.

The goal of this research topic is to:
• Highlight and provide an in-depth understanding of the neurological manifestations of RDs, especially motor disabilities;
• Describe the earliest onsets and how to recognize these onsets and the natural history in childhood vs. adolescence;
• Perform deterministic or stochastic modeling of neurological manifestations of RDs, including the use of neural networks and machine learning;
• Perform analysis of neurological manifestations of RDs, including the use of clinical motor representations;
• Unravel progress and perspectives for diagnosis, management, and treatment of neurological manifestations in RDs, including new technologies in home-based (virtual telematics) neurorehabilitation strategies.
Relying on the multidisciplinary approach that is typical of complex systems, we welcome Original Research studies, Topic-relevant literature Reviews, and Brief Research Reports from different fields on the following subtopics:
• Modelling of neurological manifestations in RDs;
• Analysis of neurological manifestations in RDs;
• Neonatal vs. childhood vs. adolescence onsets recognition;
• New technologies and innovative approaches for the diagnosis, management, and treatment of motor disorders in RDs.

Keywords: pediatrics, chlidhood, modeling, habilitation, neurorehabilitation, neuroimaging, movement analysis, rare disease, ataxias, cerebral malformations, DNA defect repair, epilepsy, epileptic encephalopathies, immune-mediated disorders, neurodevelopmental disorders, neurometabolic diseases, neuromuscular disorders, neurotransmitter disorders, phacomatoses, spastic paraplegias

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Frequently asked questions

• What is a Research Topic?

  Frontiers' Research Topics are collaborative hubs built around an emerging theme.Defined, managed, and led by renowned researchers, they bring communities together around a shared area of interest to stimulate collaboration and innovation.

  Unlike section journals, which serve established specialty communities, Research Topics are pioneer hubs, responding to the evolving scientific landscape and catering to new communities.

• Why does Frontiers publish Research Topics? 

  The goal of Frontiers' publishing program is to empower research communities to actively steer the course of scientific publishing. Our program was implemented as a three-part unit with fixed field journals, flexible specialty sections, and dynamically emerging Research Topics, connecting communities of different sizes and maturity.

  Research Topics originate from the scientific community. Many of our Research Topics are suggested by existing editorial board members who have identified critical challenges or areas of interest in their field.

• Why are Research Topics important for journals?

  As an editor, Research Topics will help you build your journal, as well as your community, around emerging, cutting-edge research. As research trailblazers, Research Topics attract high-quality submissions from leading experts all over the world.

  A thriving Research Topic can potentially evolve into a new specialty section if there is sustained interest and a growing community around it.

• How do we ensure the quality of articles within Research Topics?

  Each Research Topic must be approved by the specialty chief editor, and it falls under the editorial oversight of our editorial boards, supported by our in-house research integrity team. The same standards and rigorous peer review processes apply to articles published as part of a Research Topic as for any other article we publish.

  In 2023, 80% of the Research Topics we published were edited or co-edited by our editorial board members, who are already familiar with their journal's scope, ethos, and publishing model. All other topics are guest edited by leaders in their field, each vetted and formally approved by the specialty chief editor.

• What are the benefits of publishing my article in a Research Topic?

  Publishing your article within a Research Topic with other related articles increases its discoverability and visibility, which can lead to more views, downloads, and citations. Research Topics grow dynamically as more published articles are added, causing frequent revisiting, and further visibility.

  As Research Topics are multidisciplinary, they are cross-listed in several fields and section journals – increasing your reach even more and giving you the chance to expand your network and collaborate with researchers in different fields, all focusing on expanding knowledge around the same important topic.

  Our larger Research Topics are also converted into ebooks and receive social media promotion from our digital marketing team.

   
• What types of articles can be published in a Research Topic?

  Frontiers offers multiple article types, but it will depend on the field and section journals in which the Research Topic will be featured. The available article types for a Research Topic will appear in the drop-down menu during the submission process.

  Check available article types here 

• Can I suggest a new Research Topic? 

  Yes, we would love to hear your ideas for a topic. Most of our Research Topics are community-led and suggested by researchers in the field. Our in-house editorial team will contact you to talk about your idea and whether you’d like to edit the topic. If you’re an early-stage researcher, we will offer you the opportunity to coordinate your topic, with the support of a senior researcher as the topic editor. 

  Suggest your topic here 

• Who leads a Research Topic? 

  A team of guest editors (called topic editors) lead their Research Topic. This editorial team oversees the entire process, from the initial topic proposal to calls for participation, the peer review, and final publications.

  The team may also include topic coordinators, who help the topic editors send calls for participation, liaise with topic editors on abstracts, and support contributing authors. In some cases, they can also be assigned as reviewers.

• What is the role of a topic editor?

  As a topic editor (TE), you will take the lead on all editorial decisions for the Research Topic, starting with defining its scope. This allows you to curate research around a topic that interests you, bring together different perspectives from leading researchers across different fields and shape the future of your field. 

   

  You will choose your team of co-editors, curate a list of potential authors, send calls for participation and oversee the peer review process, accepting or recommending rejection for each manuscript submitted.

• What support will I receive when editing a new Research Topic? 

  As a topic editor, you're supported at every stage by our in-house team. You will be assigned a single point of contact to help you on both editorial and technical matters. Your topic is managed through our user-friendly online platform, and the peer review process is supported by our industry-first AI review assistant (AIRA).

• As a junior researcher, can I be involved in editing a Research Topic? 

  If you’re an early-stage researcher, we will offer you the opportunity to coordinate your topic, with the support of a senior researcher as the topic editor. This provides you with valuable editorial experience, improving your ability to critically evaluate research articles and enhancing your understanding of the quality standards and requirements for scientific publishing, as well as the opportunity to discover new research in your field, and expand your professional network.

• Can I get a certificate for editing a Research Topic?

  Yes, certificates can be issued on request. We are happy to provide a certificate for your contribution to editing a successful Research Topic.

• Who will I collaborate with?

  Research Topics thrive on collaboration and their multi-disciplinary approach around emerging, cutting-edge themes, attract leading researchers from all over the world.

• How long does it take to publish a Research Topic?

  As a topic editor, you can set the timeline for your Research Topic, and we will work with you at your pace. Typically, Research Topics are online and open for submissions within a few weeks and remain open for participation for 6 – 12 months. Individual articles within a Research Topic are published as soon as they are ready.

  Find out more about our Research Topics

• What fee support is available to authors publishing in a Research Topic?

  Our fee support program ensures that all articles that pass peer review, including those published in Research Topics, can benefit from open access – regardless of the author's field or funding situation.

  Authors and institutions with insufficient funding can apply for a discount on their publishing fees. A fee support application form is available on our website.

• Will there be a printed version of my Research Topic?

  In line with our mission to promote healthy lives on a healthy planet, we do not provide printed materials. All our articles and ebooks are available under a CC-BY license, so you can share and print copies.