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

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.

Effect of neurological screening on early dementia detection in southern Italy.

OBJECTIVE: Population screening can facilitate early diagnosis of dementia and improve disease management. This study examined the effects of a screening campaign for neurodegenerative disorders on the early diagnosis of dementia using 2-year follow-up data. METHODS: A 5-day screening campaign was conducted that comprised neurological, neuropsychological and other specialist examinations. Identification of alterations during the neurological examination was followed-up by further diagnostic examinations to confirm the neurological impairment. RESULTS: Neurological alterations were observed in 39% of the screened subjects, who were mostly diagnosed with mild cognitive impairment and referred to a dementia and cognitive disorders centre. Suspicion of neurological impairment was a risk factor for inclusion in a specific neurological ambulatory follow-up and a condition for exemption from payment for medical examinations. CONCLUSIONS: Neurodegenerative screening initiatives should include subjects selected by general practitioners. It would be useful to create a network including primary care physicians and cognitive disorder centres. Telemedicine tools (e.g., teleconsulting) could also be used to facilitate early diagnosis.