Multidisciplinary early intervention in Down syndrome: a retrospective study.

BACKGROUND: Scientific community agrees on the importance of early, global multidisciplinary family-based care in the neuropsychological development of children with disabilities, including those with Down Syndrome (DS). This study aim to assess whether a structured, multidisciplinary early intervention carried out at the outpatient service of Stella Maris I.R.C.C.S. can lead to better outcomes in children with DS, in development and cognitive functioning, compared to conventional care provided by the local health centres (ASL). METHODS: We included in the study 20 children with DS. The experimental group received early treatment (0-36 months), while the control group only underwent cognitive assessments. In order to examine the outcome of long-term cognitive functioning, our study evaluated assessments of the children at 5 years of age, by administering the WPPSI-III scale. RESULTS: In our result we can confirm the typical profile of children with Down Syndrome described in the literature. Comparing the results obtained in both groups, we see that the mean scores obtained by the experimental group, in all three of the quotients examined, are higher than the mean scores obtained by the control group. CONCLUSIONS: This study makes it clear that early, structured, multidisciplinary interventions play a fundamental role in modifying neurocognitive outcomes in children with Down Syndrome. The results of this study thus confirm the usefulness of the outpatient service in the early management of individuals with DS, following a multidisciplinary, structured pathway focused on the child and his/her family.

Toward the Knowledge of the Epidemiological Impact of Acute Rheumatic Fever in Italy.

Background: To estimate the incidence of Acute Rheumatic Fever (ARF) in Tuscany, a region of Central Italy, evaluating the epidemiological impact of the new diagnostic guidelines, and to analyse our outcomes in the context of the Italian overview. Methods: A multicenter and retrospective study was conducted involving children <18 years old living in Tuscany and diagnosed in the period between 2010 and 2019. Two groups were established based on the new diagnostic criteria: High-Risk (HR) group patients, n = 29 and Low-Risk group patients, n = 96. Results: ARF annual incidence ranged from 0.91 to 7.33 out of 100,000 children in the analyzed period, with peak of incidence registered in 2019. The application of HR criteria led to an increase of ARF diagnosis of 30%. Among the overall cohort joint involvement was the most represented criteria (68%), followed by carditis (58%). High prevalence of subclinical carditis was observed (59%). Conclusions: Tuscany should be considered an HR geographic area and HR criteria should be used for ARF diagnosis in this region.

Synthesis and structure-activity relationship studies in translocator protein ligands based on a pyrazolo[3,4-b]quinoline scaffold.

As a further development of our large program focused on the medicinal chemistry of translocator protein [TSPO (18 kDa)] ligands, a new class of compounds related to alpidem has been designed using SSR180575, emapunil, and previously published pyrrolo[3,4-b]quinoline derivatives 9 as templates. The designed compounds were synthesized by alkylation of the easily accessible 4-methyl-2-phenyl-1H-pyrazolo[3,4-b]quinolin-3(2H)-one derivatives 13-15 with the required bromoacetamides. Along with the expected 2-(4-methyl-3-oxo-2-phenyl-2,3-dihydro-1H-pyrazolo[3,4-b]quinolin-1-yl)acetamide derivatives 10, 2-(4-methyl-3-oxo-2-phenyl-2H-pyrazolo[3,4-b]quinolin-9(3H)-yl)acetamide isomers 11 were isolated and characterized. The high TSPO affinity shown by new pyrazolo[3,4-b]quinoline derivatives 10 and especially 11 leads the way to further expand the chemical diversity in TSPO ligands and provides new templates and structure-affinity relationship data potentially useful in the design of new anxiolytic and neuroprotective agents.