Cognitive and emotional disturbances in adult patients with myotonic dystrophy type 1

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Abstract

Background. Myotonic dystrophy type 1 (DM1) is a hereditary slowly progressive multisystem disease with an autosomal dominant mode of inheritance, caused by the expansion of trinucleotide (CTG)n repeats in the 3’ untranslated region of the DMPK gene. Among the clinical manifestations of DM1, an important place is occupied by symptoms of damage to the central nervous system, in particular cognitive and emotional disorders.

Aim. To evaluate the type of cognitive and emotional impairments in patients with different forms of DM1 and their impact on quality of life.

Materials and methods. 60 patients with genetically confirmed DM1 were examined (average age 37.0 ± 12.4 years; 36 (60.0 %) of them were men). All patients underwent neuropsychological testing using the Montreal Cognitive Rating

Scale, Mini‑Mental State Examination, Addenbrooke’s III, Wechsler tests, pathfinding, symbolic and numeric modalities, Luria’s 10 Words, Frontal Dysfunction Battery; assessment of emotional disturbances using the Hospital Anxiety and Depression Rating Scale and the Apathy Scale; quality of life assessment –  36‑Item Short‑Form Medical Outcomes Study. Brain magnetic resonance imaging was performed in 53 patients to assess the severity of white matter lesions and gray matter atrophy.

Results. The study included 8 (13.3 %) patients with congenital, 19 (31.7 %) – childhood, 33 (55 %) – adult forms of MD1. The group of patients with the congenital form had the most severe cognitive deficits, especially in tests of executive functions and visuospatial perception. Cognitive impairment was also characteristic of the adult form, but to a lesser extent. Compared to controls, patients with DM1 were significantly more likely to exhibit apathy (p = 0.002) rather than anxiety and depression. In DM1, damage to both the white and gray matter of the brain was established, and a connection between damage to the gray matter and depression (r = 0.296) and apathy (r = –0.291) was revealed. The quality of life is largely influenced by emotional disorders (anxiety, r = –0.577; depression, r = –0.650; apathy, r = –0.545).

Conclusion. In patients with DM1, a typical pattern of cognitive impairment has not been identified; different domains of cognitive functions are affected. The greatest cognitive deficit is typical for the group of patients with the congenital form. A connection between damage to the gray matter of the brain and emotional disorders has been revealed.

The presence of the latter reduces the quality of life of patients with DM1.

About the authors

E. K. Erokhina

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Author for correspondence.
Email: erokhina0310@gmail.com
ORCID iD: 0000-0002-9617-1706

Elizaveta Konstantinovna Erokhina 

1 Ostrovityanova St., Moscow 117997

Russian Federation

K. V. Shamtieva

Lomonosov Medical Scientific and Educational Center, M.V. Lomonosov Moscow State University

Email: fake@neicon.ru
ORCID iD: 0000-0002-6995-1352

Build. 10, 27 Lomonosovskiy Prospekt, Moscow 117997

Russian Federation

E. A. Melnik

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia; Research Centre for Medical Genetics

Email: fake@neicon.ru
ORCID iD: 0000-0001-5436-836X

1 Ostrovityanova St., Moscow 117997

1 Moskvorechye St., Moscow 115522

Russian Federation

D. O. Kazakov

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-3071-578X

1 Ostrovityanova St., Moscow 117997

Russian Federation

S. A. Kurbatov

Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko; Saratov State Medical University named after V.I. Razumovsky, Ministry of Health of Russia; LLC “Healthy Child”

Email: fake@neicon.ru
ORCID iD: 0000-0002-8886-5222

10 Studencheskaya St., Voronezh 394036

112 Bolshaya Kazachya St., Saratov 410012

24 Generala Lizyukova St., Voronezh 394077

Russian Federation

E. P. Pavlikova

Lomonosov Medical Scientific and Educational Center, M.V. Lomonosov Moscow State University

Email: fake@neicon.ru
ORCID iD: 0000-0001-7693-5281

Build. 10, 27 Lomonosovskiy Prospekt, Moscow 117997

Russian Federation

O. A. Tikhonova

University Clinic of the Immanuel Kant Baltic Federal University

Email: fake@neicon.ru
ORCID iD: 0000-0002-1796-0193

60 9 Aprelya St., Kaliningrad 236035

Russian Federation

E. A. Mershina

Lomonosov Medical Scientific and Educational Center, M.V. Lomonosov Moscow State University

Email: fake@neicon.ru
ORCID iD: 0000-0002-1266-4926

Build. 10, 27 Lomonosovskiy Prospekt, Moscow 117997

Russian Federation

V. E. Sinitsyn

Lomonosov Medical Scientific and Educational Center, M.V. Lomonosov Moscow State University

Email: fake@neicon.ru
ORCID iD: 0000-0002-5649-2193

Build. 10, 27 Lomonosovskiy Prospekt, Moscow 117997

Russian Federation

D. V. Vlodavets

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-2635-2752

1 Ostrovityanova St., Moscow 117997

Russian Federation

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