Romina Romaniello1, Chiara Gagliardi1, Patrizia Desalvo1, Livio Provenzi2, Roberta Battini3,4, Enrico Bertini5, Maria Teresa Bonati6, Marilena Briguglio7, Stefano D'Arrigo8, Maria Teresa Dotti9, Lucio Giordano10, Claudio Macaluso11, Isabella Moroni12, Sara Nuovo13,14, Margherita Santucci15,16, Sabrina Signorini2, Franco Stanzial17, Enza Maria Valente18,19, Renato Borgatti2,20. 1. Scientific Institute IRCCS E. Medea, Child Neuropsychiatry and Neurorehabilitation Unit, Lecco, Italy. 2. Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy. 3. Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy. 4. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. 5. Department of Neuroscience and Neurorehabilitation, Ospedale Pediatrico Bambino Gesù, Roma, Italy. 6. Clinic of Medical Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy. 7. Child and Adolescent Neuropsychiatry, University of Messina, Messina, Italy. 8. Department of Developmental Neurology, Fondazione IRCCS, Istituto Neurologico C. Besta, Milan, Italy. 9. Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy. 10. Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy. 11. Department of Medicine and Surgery, University of Parma, Parma, Italy. 12. Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. 13. Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome. 14. Department of Medicine and Surgery, University of Salerno, Salerno, Italy. 15. IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Infantile, Bologna, Italy. 16. Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italia. 17. Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy. 18. Department of Molecular Medicine, University of Pavia, Pavia, Italy. 19. Laboratory of Molecular Medicine and Cytogenetics, IRCCS Mondino Foundation, Pavia, Italy. 20. Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Abstract
BACKGROUND: Joubert Syndrome (JS) is a rare inherited neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation (i.e. the molar tooth sign) and variable organ involvement. The aim of the present study was to describe functional limitations and disabilities in a large sample of adult patients with a diagnosis of JS. METHODS: We administered the International Classification of Functioning (ICF) checklist to thirty-six adult Italian patients with JS or their caregivers through telephone calls. RESULTS: None-to-mild impairment was documented for basic cognitive and mental functions, whereas severe deficit emerged for higher-order skills and language. A mismatch between individuals' capacity for daily activity and social participation and the actual performance in these fields emerged, suggesting that adults with JS may greatly benefit from external support from the caring environment. Indeed, specific facilitators were highlighted, including communication technologies as well as family members, healthcare professionals and peers support. Mild-to-severe barriers have been identified by adult patients with JS in the domains of services, systems and policies. CONCLUSIONS: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by investing in rehabilitation care models that embed social support programs and policies into clinical interventions.IMPLICATIONS FOR REHABILITATIONChildren with Joubert Syndrome, a child-onset rare inherited neurodevelopmental condition, are growing up and becoming adults; a life course approach in rehabilitation is needed;There is a substantial lack of information on the long-term adaptive daily functioning of children with a diagnosis of Joubert Syndrome;In this paper, the International Classification of Functioning (ICF) was applied to assess the daily functioning in people with JS;Severe deficits emerged for high-order skills and language, whereas the use of communication technologies and the engagement of family members were highlighted as key facilitators;These findings highlight the need for a change of paradigm in the care model of subjects with JS, with the embedding of social support in rehabilitation programs.
BACKGROUND: Joubert Syndrome (JS) is a rare inherited neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation (i.e. the molar tooth sign) and variable organ involvement. The aim of the present study was to describe functional limitations and disabilities in a large sample of adult patients with a diagnosis of JS. METHODS: We administered the International Classification of Functioning (ICF) checklist to thirty-six adult Italian patients with JS or their caregivers through telephone calls. RESULTS: None-to-mild impairment was documented for basic cognitive and mental functions, whereas severe deficit emerged for higher-order skills and language. A mismatch between individuals' capacity for daily activity and social participation and the actual performance in these fields emerged, suggesting that adults with JS may greatly benefit from external support from the caring environment. Indeed, specific facilitators were highlighted, including communication technologies as well as family members, healthcare professionals and peers support. Mild-to-severe barriers have been identified by adult patients with JS in the domains of services, systems and policies. CONCLUSIONS: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by investing in rehabilitation care models that embed social support programs and policies into clinical interventions.IMPLICATIONS FOR REHABILITATIONChildren with Joubert Syndrome, a child-onset rare inherited neurodevelopmental condition, are growing up and becoming adults; a life course approach in rehabilitation is needed;There is a substantial lack of information on the long-term adaptive daily functioning of children with a diagnosis of Joubert Syndrome;In this paper, the International Classification of Functioning (ICF) was applied to assess the daily functioning in people with JS;Severe deficits emerged for high-order skills and language, whereas the use of communication technologies and the engagement of family members were highlighted as key facilitators;These findings highlight the need for a change of paradigm in the care model of subjects with JS, with the embedding of social support in rehabilitation programs.
Entities:
Keywords:
Developmental disability; genetic syndrome; international classification of functioning; joubert syndrome; rare disease