Carlo Fusco1, Vincenzo Leuzzi2, Pasquale Striano3,4, Roberta Battini5,6, Alberto Burlina7, Carlotta Spagnoli8. 1. Child Neurology and Psychiatric Unit-Presidio Ospedaliero Santa Maria Nuova -AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy. fusco.carlo@ausl.re.it. 2. Department of Paediatric Neuropsychiatry, Università La Sapienza, Rome, Italy. 3. Paediatric Neurology and Muscular Diseases Unit, IRCCS Istituto G. Gaslini, Genoa, Italy. 4. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy. 5. Department of Developmental Neuroscience, Scientific Institute for Child and Adolescent Neuropsychiatry - IRCCS Stella Maris Foundation, Pisa, Italy. 6. Department of Experimental Medicine, University of Pisa, Pisa, Italy. 7. Division of Inborn Metabolic Disease, Department of Pediatrics, University Hospital Padua, Padova, Italy. 8. Child Neurology and Psychiatric Unit-Presidio Ospedaliero Santa Maria Nuova -AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Abstract
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence, the number of undiagnosed patients is likely to be high. METHODS: Italian experts in AADC deficiency formed a steering committee to engage clinicians in a modified Delphi consensus to promote discussion, and support research, dissemination and awareness on this disorder. Five experts in the field elaborated six main topics, each subdivided into 4 statements and invited 13 clinicians to give their anonymous feedback. RESULTS: 100% of the statements were answered and a consensus was reached at the first round. This enabled the steering committee to acknowledge high rates of agreement between experts on clinical presentation, phenotypes, diagnostic work-up and treatment strategies. A research gap was identified in the lack of standardized cognitive and motor outcome data. The need for setting up an Italian working group and a patients' association, together with the dissemination of knowledge inside and outside scientific societies in multiple medical disciplines were recognized as critical lines of intervention. CONCLUSIONS: The panel expressed consensus with high rates of agreement on a series of statements paving the way to disseminate clear messages concerning disease presentation, diagnosis and treatment and strategic interventions to disseminate knowledge at different levels. Future lines of research were also identified.
BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence, the number of undiagnosed patients is likely to be high. METHODS: Italian experts in AADC deficiency formed a steering committee to engage clinicians in a modified Delphi consensus to promote discussion, and support research, dissemination and awareness on this disorder. Five experts in the field elaborated six main topics, each subdivided into 4 statements and invited 13 clinicians to give their anonymous feedback. RESULTS: 100% of the statements were answered and a consensus was reached at the first round. This enabled the steering committee to acknowledge high rates of agreement between experts on clinical presentation, phenotypes, diagnostic work-up and treatment strategies. A research gap was identified in the lack of standardized cognitive and motor outcome data. The need for setting up an Italian working group and a patients' association, together with the dissemination of knowledge inside and outside scientific societies in multiple medical disciplines were recognized as critical lines of intervention. CONCLUSIONS: The panel expressed consensus with high rates of agreement on a series of statements paving the way to disseminate clear messages concerning disease presentation, diagnosis and treatment and strategic interventions to disseminate knowledge at different levels. Future lines of research were also identified.
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