I began working with people with Rett Syndrome at San Paolo Hospital in Milan in 2005, and soon after that in 2006 I had the opportunity to visit the Rett Clinic directed by Dr Budden in Portland, Oregon, USA.
Since then, Rett Syndrome has become one of my main research interests. I have contributed to further characterizing the neurophysiological features of this syndrome (e.g. stereotypies, response to antiepileptic drugs, neurophysiological and cognitive characteristics). Working in a multidisciplinary team, I coordinated a panel of consultants in Italy, and developed recommendations for the diagnosis and management of Rett Syndrome at all ages (published online at: www.malattierare.marionegri.it). I have also been involved in the development and implementation of the Rett Network Database (https://www.rettdatabasenetwork.org), as a local Coordinator.
My other areas of research are childhood complex epilepsies, especially their therapeutic issues, and genetic and rare disorders with neurological involvement.
My noteworthy expertise in rare disorders and epilepsy is recognized also by my social activity on newspapers and websites, and by collaborations with patients’ organizations.
The complete List of Published Work is available at:
https://orcid.org//0000-0003-4638-4663
Aglaia Introduces Herself
Relevant publications
Phenotypes in adult patients with Rett Syndrome: results of a 13-year experience and insights into healthcare transition
Angela Peron, Maria Paola Canevini, Filippo Ghelma, Rosangela Arancio, Miriam Nella Savini, Aglaia Vignoli
Lay summary
This informative paper has the purpose of describing the common profile of an adult patient with Rett syndrome, as a result of previous data combined with a study conducted at San Paolo University Hospital in Milan (Italy), currently hosting the only adult RTT clinic in Northern Italy. The study focused the analysis on 50 patients aged ≥18 years with MECP2 pathogenic variants or a clinical diagnosis of typical RTT.
The main problems experienced by these patients were: first of all epilepsy, showing that seizure remission is not so common as was believed; moreover, drugs often need to be changed with ageing (i.e. carbamazepine seems more effective than valproic acid in adult patients).
Some of the girls maintain the ability to walk when adults, especially the ones showing mild neurological signs since childhood. Older women can be affected by Parkinsonism and other neurological impairments; stereotypic hand movements persist throughout life.
Other common issues are sleep problems and behavioural disorders. Night laughing and screaming tend to decrease with age, while waking remains similar across age groups. A significant deterioration in mood as individuals aged is reported, so depression should be assessed.
Scoliosis and low bone density (anticonvulsant therapy, especially with valproate, is an additional risk factor) are common in adult women with RTT.
Breathing problems are frequent. Adults tend to have fewer episodes of hyperventilation, while breath holding tends to persist. Gastrointestinal (GI) problems are common but, while children present with vomiting or regurgitation and GERD, underweight along with prolonged feeding time and swallowing difficulty – thus considering the need of gastrostomy placement — are typical of older individuals. Cholelithiasis seems relatively frequent in adults with RTT.
In conclusion, the clinical manifestations associated with this syndrome vary with age, therefore referring to a multidisciplinary clinic is very useful, so that all the main comorbidities are addressed.
CDKL5 disorder and FOXG1 mutations.
Adults with CDKL5 disorder almost always present epilepsy, which is frequently drug-resistant also in adulthood, as in two patients in the study. Sleep difficulties as well as GI problems seem to be very common in the CDKL5 disorder. Breathing abnormalities seem much less common than in classic RTT.
Less than 10 adults with FOXG1 mutations have been described so far. GI problems, scoliosis and severe osteopenia with fracture were the main problems in two patients in this study, in addition to ID.