Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of intellectual disability to the subtle cognitive impairments. It is unclear if different clusters of neuropsychological deficits appear in different phenotypes of DM, or if there are patients with no cognitive deficit at all. The aim of this study is to assess cognitive impairments among patients with different phenotypes of DM type 1 (DM1) and type 2 (DM2), and to potentially define cognitive clusters in these disorders. Study comprised 101 DM1 and 46 DM2 adult patients who were genetically confirmed. Patients underwent analysis of five cognitive domains (visuospatial, executive, attention, memory and language). Virtually all DM1 patients had cognitive defect with approximately 2–3 cognitive domains affected. On the other hand, one-third of DM2 patients had completely normal neuropsychological findings, and in other two-thirds approximately 1–2 domains were affected. Cluster analysis showed that in both diseases visuospatial and executive dysfunctions seemed to be the main cognitive defects, while memory and language impairments appeared in more severe phenotypes. Our results showed that a single form of DM1 or DM2 may consist of several cognitive clusters. Understanding of cognitive impairments in DM is very important to follow positive and side effects in ongoing and future clinical trials.

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2 / S. Peric, V. Rakocevic Stojanovic, G. Mandic Stojmenovic, V. Ilic, M. Kovacevic, A. Parojcic, J. Pesovic, M. Mijajlovic, D. Savic Pavicevic, G. Meola. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - 38:3(2017 Mar), pp. 415-423. [10.1007/s10072-016-2778-4]

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2

G. Meola
Ultimo
2017

Abstract

Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of intellectual disability to the subtle cognitive impairments. It is unclear if different clusters of neuropsychological deficits appear in different phenotypes of DM, or if there are patients with no cognitive deficit at all. The aim of this study is to assess cognitive impairments among patients with different phenotypes of DM type 1 (DM1) and type 2 (DM2), and to potentially define cognitive clusters in these disorders. Study comprised 101 DM1 and 46 DM2 adult patients who were genetically confirmed. Patients underwent analysis of five cognitive domains (visuospatial, executive, attention, memory and language). Virtually all DM1 patients had cognitive defect with approximately 2–3 cognitive domains affected. On the other hand, one-third of DM2 patients had completely normal neuropsychological findings, and in other two-thirds approximately 1–2 domains were affected. Cluster analysis showed that in both diseases visuospatial and executive dysfunctions seemed to be the main cognitive defects, while memory and language impairments appeared in more severe phenotypes. Our results showed that a single form of DM1 or DM2 may consist of several cognitive clusters. Understanding of cognitive impairments in DM is very important to follow positive and side effects in ongoing and future clinical trials.
cluster analysis; cognitive impairment; myotonic dystrophy; neuropsychology; 2708; neurology (clinical); psychiatry and mental health
Settore MED/26 - Neurologia
mar-2017
2016
Article (author)
File in questo prodotto:
File Dimensione Formato  
2016_Neurol Sci_Cognitive.pdf

accesso riservato

Tipologia: Publisher's version/PDF
Dimensione 700.16 kB
Formato Adobe PDF
700.16 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/474092
Citazioni
  • ???jsp.display-item.citation.pmc??? 13
  • Scopus 38
  • ???jsp.display-item.citation.isi??? 35
social impact