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.
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.