No gene-specific guidelines for management and surveillance are available.
Understanding phenotypic variation is clinically relevant, enabling individualized prognosis and identification of modifiable factors influencing the severity of outcomes.
To define therapeutic management it is necessary to assess the intellectual and social functioning and health needs of the individual patient according to the methodology summarized here:
• https://www.iss.it/documents/d/guest/the-full-guideline-english-version
The following guidelines and recommendations provided by various countries illustrate the principle for the management of spasticity and motor difficulties:
• https://sinpia.eu/wp-content/uploads/2023/10/La-Riabilitazione-nella-PC-Care-Pathways-24.10-DEF.pdf
• https://sinpia.eu/wp-content/uploads/2019/02/2013_2.pdf
• http://www.health.nsw.gov.au/kidsfamilies/
AP1S2