Our Story

The history of the Italian Association for Pallister-Killian Syndrome is deeply intertwined with the birth of my third child, Giacomino. PKS forcefully entered my life with his birth in June 2011, following a smooth pregnancy and a “normal karyotype” result from the chorionic villus sampling that left the doctors unconvinced from the first moments after delivery. Giacomino was markedly hypotonic, did not cry, did not move, and did not even open his eyes. These unusual behaviors, and most notably, the dysmorphic features of his face, drew the attention of Professor Cocchi, a neonatologist and head of the Clinical Genetics and Rare Diseases outpatient clinic at the same hospital, Policlinico S.Orsola Malpighi in Bologna. Thanks to his vast experience and keen intuition, less than a month after Giacomino's birth, he delivered a diagnosis he had hoped to rule out: Pallister-Killian Syndrome.

Medical literature available in 2011 was scarce and highlighted the grim outlook and limited survival prospects beyond five years.

Despite the despair and immense sorrow that comes with receiving such a diagnosis, I sought information and connected with the mother of Lucia, an American girl with PKS born just a few months before Giacomino. This led me to the PKS families association in the United States, where I quickly realized the significant discrepancy between the scant information available about the syndrome and the reality, both in terms of incidence and the survival and developmental prospects of children with PKS.

With Professor Cocchi's support and encouragement, when Giacomino was four months old, I founded PKS Kids Italia Onlus (renamed PKS Italia Aps in 2020) and began to register Italian families. Precise information on the number of cases was lacking, with estimates suggesting about 300 cases worldwide, including less than ten in Italy. However, according to the team of American doctors at the Children's Hospital of Philadelphia led by Professor Ian Krantz, who are engaged in significant studies on the syndrome, the actual number in the United States alone could exceed two thousand. Pallister-Killian Syndrome is presumed to be the second most common aneuploidy—a condition involving a variation in chromosome number—after Down syndrome. To date, our association has connected with around 50 families in Italy.

The limited awareness of this syndrome and the diagnostic challenges are the root of this discrepancy.

Samantha Carletti

Mother of Giacomino - Founder and President of PKS Italia Aps

PKS Italia Aps is the Italian Association for Pallister-Killian Syndrome (registered under no. 35572 in the RUNTS, registration no. 396 in the Emilia Romagna Regional Registry of Social Promotion Associations, and enrolled in the ONLUS Registry under protocol 15128).

PKS Italia APS is a non-profit organization that pursues civic, solidarity, and social utility purposes and carries out activities of general interest, as per article 5, paragraph 1 of the Legislative Decree 117/2017, specifically related to: a) social interventions and services; h) scientific research of particular social interest; i) organization and management of cultural, artistic, or recreational activities of social interest; u) charity, sponsorship, free distribution of food or products; w) promotion and protection of human, civil, social, and political rights, as well as the rights of consumers and users of general interest activities mentioned in this article, promotion of equal opportunities, and initiatives of mutual aid.

In particular, PKS Italia Aps works on behalf of individuals affected by Pallister-Killian Syndrome (PKS) and their families, even those residing in other territories, without discrimination of nationality, race, religion, or political affiliation; it protects the dignity of individuals affected by PKS and their family members, and their other rights enshrined in the Italian Constitution, disability laws, and the United Nations Declaration on the rights of the disabled. The Association is autonomous but may temporarily or permanently connect, due to the affinity of the pursued goals and the possibility of coordinating some of their respective activities to offer better support to individuals affected by PKS and their families, with other local, national, or international associations having similar or related purposes.