BACKGROUND: The neuropsychological profile of Niemann-Pick type C (NP-C) patients is characterized by an early deterioration in executive functions and attention. There are few studies on cognitive impairment and on neuropsychological assessment of NP-C disease. The purpose of this review is to analyze the studies on a psychological assessment for NP-C patients. METHOD: This review aims to identify a neuropsychological assessment to evaluate cognitive domains and neuropsychological changes in these patients. There were a total of 73 articles. The search terms were identified as titles and abstracts. All articles were evaluated by title, abstract, and text. RESULTS: Only four of the 73 articles were included because they met the criteria of our review. Furthermore, in these studies, possible diagnostic protocols are proposed on NP-C subjects. DISCUSSION AND CONCLUSION: The cognitive impairment in NP-C has a negative impact on daily functioning and quality of life. Early diagnosis could identify cognitive deficits and promote cognitive interventions to improve the neuropsychological profile. The management of NP-C disease should be based on a multidisciplinary approach, to treating symptoms, preserving neurological functions, and guaranteeing the best possible quality of life. Early identification of neurological and psychological symptoms of the disease is necessary in order to decrease the progression of neurological disease and improve patient care and treatment outcomes. Furthermore, research should focus more on cognitive aspects, not only in the diagnostic process but also in the rehabilitation process.
BACKGROUND: The neuropsychological profile of Niemann-Pick type C (NP-C) patients is characterized by an early deterioration in executive functions and attention. There are few studies on cognitive impairment and on neuropsychological assessment of NP-C disease. The purpose of this review is to analyze the studies on a psychological assessment for NP-Cpatients. METHOD: This review aims to identify a neuropsychological assessment to evaluate cognitive domains and neuropsychological changes in these patients. There were a total of 73 articles. The search terms were identified as titles and abstracts. All articles were evaluated by title, abstract, and text. RESULTS: Only four of the 73 articles were included because they met the criteria of our review. Furthermore, in these studies, possible diagnostic protocols are proposed on NP-C subjects. DISCUSSION AND CONCLUSION: The cognitive impairment in NP-C has a negative impact on daily functioning and quality of life. Early diagnosis could identify cognitive deficits and promote cognitive interventions to improve the neuropsychological profile. The management of NP-C disease should be based on a multidisciplinary approach, to treating symptoms, preserving neurological functions, and guaranteeing the best possible quality of life. Early identification of neurological and psychological symptoms of the disease is necessary in order to decrease the progression of neurological disease and improve patient care and treatment outcomes. Furthermore, research should focus more on cognitive aspects, not only in the diagnostic process but also in the rehabilitation process.
Authors: Alberto Benussi; Maura Cosseddu; Ilaria Filareto; Valentina Dell'Era; Silvana Archetti; Maria Sofia Cotelli; Anna Micheli; Alessandro Padovani; Barbara Borroni Journal: Ann Neurol Date: 2016-08-10 Impact factor: 10.422
Authors: Niklas Mattsson; Maria Olsson; Mikael K Gustavsson; Marko Kosicek; Martina Malnar; Jan-Eric Månsson; Maria Blomqvist; Johan Gobom; Ulf Andreasson; Gunnar Brinkmalm; Charles Vite; Silva Hecimovic; Caroline Hastings; Kaj Blennow; Henrik Zetterberg; Erik Portelius Journal: Metab Brain Dis Date: 2012-09-01 Impact factor: 3.584
Authors: Stephanie M Cologna; Celine V M Cluzeau; Nicole M Yanjanin; Paul S Blank; Michelle K Dail; Stephan Siebel; Cynthia L Toth; Christopher A Wassif; Andrew P Lieberman; Forbes D Porter Journal: J Inherit Metab Dis Date: 2013-05-08 Impact factor: 4.982
Authors: Alberto Benussi; Maria Sofia Cotelli; Maura Cosseddu; Valeria Bertasi; Marinella Turla; Ettore Salsano; Andrea Dardis; Alessandro Padovani; Barbara Borroni Journal: JIMD Rep Date: 2017-01-17
Authors: Rao Fu; Nicole M Yanjanin; Matthew J Elrick; Christopher Ware; Andrew P Lieberman; Forbes D Porter Journal: Am J Med Genet A Date: 2012-09-28 Impact factor: 2.802
Authors: Francesco Di Lorenzo; Viviana Ponzo; Sonia Bonnì; Caterina Motta; Priscilla C Negrão Serra; Marco Bozzali; Carlo Caltagirone; Alessandro Martorana; Giacomo Koch Journal: Ann Neurol Date: 2016-07-08 Impact factor: 10.422
Authors: Marcello Esposito; Raffaele Dubbioso; Stefano Tozza; Rosa Iodice; Marco Aiello; Emanuele Nicolai; Carlo Cavaliere; Marco Salvatore; Lucio Santoro; Fiore Manganelli Journal: Heliyon Date: 2019-11-14
Authors: Simona Pisanti; Erika Rimondi; Elena Pozza; Elisabetta Melloni; Enrico Zauli; Maurizio Bifulco; Rosanna Martinelli; Annalisa Marcuzzi Journal: Int J Environ Res Public Health Date: 2022-07-25 Impact factor: 4.614