Università degli studi di Modena e Reggio Emilia

Xia-Gibbs syndrome: Unimore coordinates the largest Italian case series

An important multicentre study on Xia-Gibbs syndrome has been published in the American Journal of Medical Genetics Part A . This research is the result of a collaboration between the Paediatrics group at the University of Modena and Reggio Emilia (Unimore) and colleagues from the University of Pisa, the University of Florence, the IRCCS Fondazione Stella Maris in Pisa, and the Child and Adolescent Neuropsychiatry Unit at the ASST Rhodense.

The scientific study, coordinated by Professor Lorenzo Iughetti, Senior Professor of Paediatrics at Unimore, compiled the largest Italian case series of patients affected by Xia-Gibbs syndrome. The study analysed fifteen patients using genetic, clinical, neuroradiological, electroencephalographic, and behavioural data, with the aim of better defining a pathological framework that is still recent in scientific literature and characterised by significant variability among patients.

Xia-Gibbs syndrome is an ultra-rare neurodevelopmental genetic disorder associated with variants of the AHDC1 gene. In most cases, these are de novo mutations, appearing spontaneously at the time of conception and therefore absent in the parents. A definitive diagnosis requires genetic testing, often through exome sequencing, which is now a crucial tool for identifying many rare conditions affecting neurological development.

The clinical picture includes hypotonia, delayed psychomotor and speech development, intellectual disability, sleep apnoea, and symptoms of varying severity. Managing the syndrome requires a multidisciplinary care programme focused on symptom control and developmental support, incorporating speech therapy, physiotherapy, occupational therapy, neurological monitoring, and repeated specialist assessments over time.

This multidisciplinary approach, developed over several years, has established the Modena group as a national point of reference for the care of patients with Xia-Gibbs syndrome. In Modena, patients find the necessary expertise across paediatrics, neurology, neuroradiology, genetics, orthopaedics, endocrinology, and psychology.

"The Policlinico of Modena," says Professor Iughetti, "precisely because of these concurrently available specialities, is indeed the facility to which the Xia-Gibbs Italy Association (founded in 2019 to support Italian families and promote research into this rare syndrome) refers, including for the staging of the 'Syndrome Days'. These are days entirely dedicated to the follow-up of Xia-Gibbs patients, organised in particular by Dr Patrizia Bergonzini and Dr Simona Madeo from the paediatric group."

The research published in the American Journal of Medical Genetics Part A stems from this clinical and scientific work and is embedded within a multicentre network of centres of excellence capable of expanding knowledge of this pathology.

In particular, the study explored the neuroradiological and electroencephalographic features of the syndrome, which until now had been analysed less systematically than other clinical aspects. In the patients assessed, brain MRI abnormalities were frequently observed, including thinning of the corpus callosum, posterior fossa anomalies, and morphological changes in the lateral ventricles. Furthermore, electroencephalographic analysis revealed abnormalities in the temporo-occipital and posterior regions, which were exacerbated by sleep—features that could assist clinicians in recognising the syndrome.

The research also confirms the significance of epilepsy and behavioural manifestations within the overall framework of the disease. Neurodevelopmental disorders, language difficulties, autistic spectrum traits, attentional issues, and behavioural manifestations requiring longitudinal evaluations were reported in the studied cohort. This evidence reinforces the need to monitor patients over time through coordinated check-ups capable of addressing the evolution of clinical, rehabilitative, and family needs.

This work lays the foundations for future multicentre investigations into Xia-Gibbs syndrome, with the ultimate goal of gaining a deeper understanding of the natural history of the disease, identifying more recognisable diagnostic markers, and establishing monitoring protocols tailored to the complexity of the condition.

Categorie: International - english, Notizie_eng