Myotonic dystrophy type 1 (DM1), also called Steinert's disease, is a genetic multisystem disorder that has raised, in the last years, high interest because of the high variable clinical spectrum and related disability. Children with myotonic dystrophy are affected by behavioural problems and intellectual disability, finally impacting on their degree of engagement in family, work and social activities. The transition phase, representing the process of moving from adolescence to adulthood, can be severely affected by growing up with a neuromuscular disorder, with significant impact on patient's and families' quality of life. Although conceptual models of health assistance for individual with genetic disorders have already been proposed the burden for the patient and his family is still relevant. Therefore to afford this critical condition it would be suitable to plan proper educational and psychosocial programs, identifying areas of unmet needs and targeted health objectives that ensure the right support to DM1 population.
Hard ways towards adulthood: the transition phase in young people with myotonic dystrophy
Baldanzi, Sigrid;Ricci, Giulia;Simoncini, Costanza;COSCI O DI COSCIO, MIRNA;Siciliano, Gabriele
2016-01-01
Abstract
Myotonic dystrophy type 1 (DM1), also called Steinert's disease, is a genetic multisystem disorder that has raised, in the last years, high interest because of the high variable clinical spectrum and related disability. Children with myotonic dystrophy are affected by behavioural problems and intellectual disability, finally impacting on their degree of engagement in family, work and social activities. The transition phase, representing the process of moving from adolescence to adulthood, can be severely affected by growing up with a neuromuscular disorder, with significant impact on patient's and families' quality of life. Although conceptual models of health assistance for individual with genetic disorders have already been proposed the burden for the patient and his family is still relevant. Therefore to afford this critical condition it would be suitable to plan proper educational and psychosocial programs, identifying areas of unmet needs and targeted health objectives that ensure the right support to DM1 population.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
