Children living with rare genetic syndromes generally need long-term, coordinated support to build cognitive, language and motor skills. Without consistent rehabilitation, the disabilities linked to these conditions tend to become permanent over time rather than improve.
Research increasingly points to another factor at play: an imbalance in gut bacteria, common in children with rare diseases because of sedentary lifestyles, feeding difficulties and long-term medication, appears to worsen inflammation that affects the nervous system, adding a further layer of risk on top of the syndrome itself. In Italy, several hundred thousand children live with a rare disease, many involving some form of neurological disability, which makes a joined-up approach to both rehabilitation and gut health relevant well beyond a single condition.
The project
UPLUNG combines two areas of support that are usually addressed separately: neuropsychological rehabilitation, working on each child's cognitive, language and motor abilities together with neurologists and neuropsychologists, and gastroenterological monitoring of the gut microbiome. The project adds a structured protocol for periodic checks of gut bacteria, alongside practical guidance on diet, lifestyle and supplements, to reduce the risk of imbalance and its knock-on effects on the nervous system.
Rehabilitation and gut health are managed at the same time rather than one after the other, on the understanding that improving one supports progress in the other. Over time, the project aims to document this combined approach clearly enough that it can be shared, through scientific and public communication, as a model relevant to other rare conditions involving similar psychomotor, behavioural or communication difficulties.
Who the project is for
The project's direct beneficiaries are around 15 children and young people with Wolf-Hirschhorn syndrome, who take part in AISIWH's week-long annual rehabilitation programme, now extended through UPLUNG's combined rehabilitation and gut health support.
Project name: AUtonomie e Prevenzione sul LUNGo Periodo (UPLUNG)
Proposing organisation: Associazione Italiana Sindrome di Wolf-Hirschhorn OdV ETS (AISIWH)
Area of intervention: Health & Welfare
Country: Italy