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Neuropsychological assessment in Niemann-Pick disease type C: a systematic review

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Abstract

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.

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Data availability

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

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Authors and Affiliations

  1. IRCCS Centro Neurolesi “Bonino-Pulejo”, S.S. 113, Contrada Casazza, 98124, Messina, Italy

    Giuseppa Maresca, Caterina Formica, Vanessa Nocito, Desiree Latella, Simona Leonardi, Maria Cristina De Cola, Giuseppe Triglia, Placido Bramanti & Francesco Corallo

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  1. Giuseppa Maresca
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  2. Caterina Formica
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All authors were involved in the preparation of the draft manuscript and have read, critically reviewed, and approved the final version of the manuscript.

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Correspondence to Caterina Formica.

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Maresca, G., Formica, C., Nocito, V. et al. Neuropsychological assessment in Niemann-Pick disease type C: a systematic review. Neurol Sci 42, 3167–3175 (2021). https://doi.org/10.1007/s10072-021-05337-5

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