Down syndrome (or Trisomy 21) affects around 40,000 people in Italy alone, 1 child for every 1,200 births. On the occasion of World Day of 21 March, the Bambino Gesù Pediatric Hospital – which cares for over 800 children and young people with Down syndrome – relaunches the importance of a multidisciplinary approach and specific clinical transition paths from the pediatric to the adult, also underlining the new perspectives of treatment for the most complex cases of regression, a manifestation of Trisomy 21 which involves the rapid and abnormal loss of thinking skills, socialization and the skills necessary to carry out daily activities.
To date, medical progress and early management can guarantee these people, the specialists say, prospects and a quality of life that were unimaginable until recently. In particular, since 2017 an international group of clinicians has created a database containing data on symptoms, medical investigations and clinical management of patients with regression and Il Bambino Gesù has participated in a study in collaboration with other American centers involving 51 patients with regression. The results were published in the American Journal of medical genetics.
The study demonstrated how the diagnostic features differed markedly between the regression cases and the control group. Compared with the control group, the regression patients had four times as many mental disorders, six times as many stressors, and seven times as many depressive symptoms. With respect to clinical management, rates of improvement with electroconvulsive therapy, intravenous immunoglobulin (IVIG), and other therapies were compared. Treatment with IVIG was significantly associated with a higher rate of clinical improvement. The data “demonstrate that regression can be treated with different forms of clinical management and has a variable course – explains Diletta Valentini, head of the Bambino Gesù Down Syndrome Center -. Our study lays the foundations for future research, such as the development of objective and standardized outcome measures, and the creation of a guideline for the clinical management of regression”.
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