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. 2021 Aug;42(8):3167-3175.
doi: 10.1007/s10072-021-05337-5. Epub 2021 May 22.

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

Giuseppa Maresca  1 , Caterina Formica  2 , Vanessa Nocito  1 , Desiree Latella  1 , Simona Leonardi  1 , Maria Cristina De Cola  1 , Giuseppe Triglia  1 , Placido Bramanti  1 , Francesco Corallo  1
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Neuropsychological assessment in Niemann-Pick disease type C: a systematic review

Giuseppa Maresca et al. Neurol Sci. 2021 Aug.

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.

Keywords: Cognitive impairment; Diagnosis; Neuropsychological evaluation; Niemann-Pick disease type C; Psychological assessment.

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