Our Activities

Since its inception, PKS Italia has organized:

  • 4 European Scientific Workshops on Pallister-Killian Syndrome: 2013 in Loiano (BO), 2017 in Cervia (RA), 2019 in Sassuolo (MO), 2023 in Bologna;

  • 6 national PKS family meetings (PKS Family Day): in 2012 in Monterenzio (BO), in 2013 and 2015 in Loiano (BO), in 2017 in Cervia (RA), in 2018 in San Lazzaro di Savena (BO), and in 2019 in Sassuolo (MO).

The association has fully funded:

  • A one-year scholarship established by the Children's Hospital of Philadelphia for a young Italian pediatric geneticist who joined Professor Krantz's PKS research team in Philadelphia (2016);

  • Six thesis awards for the best dissertations on PKS (2017-2018-2019-2022);

  • Two research internship awards on PKS (2019 and 2023);

  • A study on the neurological profile in PKS, led by Professor Cordelli, head of the Pediatric Neurology Department at the Policlinico S. Orsola Malpighi in Bologna (2018).

To date, PKS Italia has also contributed to significant studies published in the American Journal of Medical Genetics and the European Journal of Paediatric Neurology:

  • “Oro-dental Features in Pallister-Killian Syndrome: Evaluation of 21 European Probands” (Bagattoni, D’Alessandro et al.) – American Journal of Medical Genetics 2016
  • “Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis” (Salzano, Raible, Kaur et al.) – American Journal of Medical Genetics 2018
  • “Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome” (Ricci, Bonfatti, Rocca et al.) – European Journal of Paediatric Neurology 2019

Thanks largely to the fundamental work of the doctors on its Scientific Committee, the Association facilitated the creation of a hub of study and knowledge on PKS, involving pediatricians, geneticists, neurologists, orthopedists, physiatrists, surgeons, and dentists, serving as a crucial resource for PKS families, not only in Italy but also in Europe, Asia, and America.

Among the next major goals are the creation of an International PKS Patient Registry, a study on the immunological phenotype in PKS, and a study on the relationship between neurological and orthopedic issues.