Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way.
Authors
- Michela Camia (ORCID: https://orcid.org/0000-0002-8753-9839)
- Francesca Cucinotta (ORCID: https://orcid.org/0000-0001-8477-7826)
- Laura Turriziani (ORCID: https://orcid.org/0009-0005-7173-2879)
- Arianna Ricciardello (ORCID: https://orcid.org/0000-0001-9926-0627)
- Fethia Chehbani (ORCID: https://orcid.org/0000-0002-6649-5048)
- Fabiana Bellomo
- Maria Boncoddo
- Antonio M. Persico (ORCID: https://orcid.org/0000-0001-8910-4479)
- Lisa Asta (ORCID: https://orcid.org/0000-0003-1619-237X)
- Giulia Scandolo
- Martina Gnazzo
- Francesco Pelagatti
- Jessica Maria Angelini (ORCID: https://orcid.org/0009-0009-8437-3907)
- Giulia Pisanò (ORCID: https://orcid.org/0009-0005-2730-2791)
Institutions
- University of Modena and Reggio Emilia (IT)
- Martin University (US)
- Azienda Unita' Sanitaria Locale Di Modena (IT)
- Organizzazione Sociopsichiatrica Cantonale (CH)
- Institute for Biomedical Research and Innovation (IT)
- Azienda Ospedaliera Universitaria Policlinico "G. Martino" (IT)
- Centro Neurolesi Bonino Pulejo (IT)
- Center for Autism and Related Disorders (US)
Publication Details
- Journal
- Journal of Neurodevelopmental Disorders
- Published
- 2024-10-03
- DOI
- https://doi.org/10.1186/s11689-024-09572-7
- Citations
- 5
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 1.71
Funders
- Università Degli Studi di Modena e Reggio Emila
- Ministero della Salute
- Università degli Studi di Messina