Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry

Abstract

Background There is little information about neuropsychiatric comorbidities in Charcot-Marie-Tooth disease (CMT). We assessed frequency of anxiety, depression, and general distress in CMT. Methods We administered online the Hospital Anxiety-Depression Scale (HADS) to CMT patients of the Italian registry and controls. HADS-A and HADS-D scores ≥ 11 defined the presence of anxiety/depression and HADS total score (HADS-T) ≥ 22 of general distress. We analysed correlation with disease severity and clinical characteristics, use of anxiolytics/antidepressants and analgesic/anti-inflammatory drugs. Results We collected data from 252 CMT patients (137 females) and 56 controls. CMT patient scores for anxiety (mean ± standard deviation, 6.7 ± 4.8), depression (4.5 ± 4.0), and general distress (11.5 ± 8.1) did not differ from controls and the Italian population. However, compared to controls, the percentages of subjects with depression (10% vs 2%) and general distress (14% vs 4%) were significantly higher in CMT patients. We found no association between HADS scores and disease duration or CMT type. Patients with general distress showed more severe disease and higher rate of positive sensory symptoms. Depressed patients also had more severe disease. Nineteen percent of CMT patients took antidepressants/anxiolytics (12% daily) and 70% analgesic/anti-inflammatory drugs. Patients with anxiety, depression, and distress reported higher consumption of anxiolytics/antidepressants. About 50% of patients with depression and/or general distress did not receive any specific pharmacological treatment. Conclusions An appreciable proportion of CMT patients shows general distress and depression. Both correlated with disease severity and consumption of antidepressants/anxiolytics, suggesting that the disease itself is contributing to general distress and depression. Supplementary Information The online version contains supplementary material available at 10.1007/s00415-022-11365-8.

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

“…These findings suggest that sleep abnormalities are partly related to the CMT disease itself, particularly because of pain and subjective sensory abnormalities, partly to mood disorders and fatigue, which are also frequent in CMT and linked to the condition of chronic disease as previously shown by us [ 16 , 17 ] and others [ 4 , 5 , 7 , 26 ], and likely also by the occurrence of specific sleep disorders in the CMT population as reported in previous studies [ 4 , 5 , 7 , 26 ].…”

“…Both patients and controls were asked to fill in also questionnaires concerning the presence of anxiety, depression, and general distress (Hospital Anxiety and Depression Scale, HADS, Italian version) [ 22 ] and the perception of fatigue (Modified Fatigue Impact Scale, MFIS, Italian version) [ 23 ] to explore the relation of neuropsychiatric status and fatigue with sleepiness and sleep quality. As previously described in our recent researches [ 15 , 16 ], we used as cutoff scores ≥ 11 for both the HADS-A and HADS-D to define the presence of anxiety and depression, respectively, and ≥ 22 for the whole scale (HADS-T) to indicate the presence of general distress [ 24 ], while the cutoff > 38 for the MFIS scale was adopted to indicate the presence of fatigue [ 25 ]. The MFIS scale is divided into physical (PH), cognitive (C), and psychosocial (PS) subscales [ 23 ].…”

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease

“…We administered a series of online questionnaires to patients registered in the National CMT Registry 2 ( www.registronmd.it ) as previously reported. 12–14 Recruitment was conducted before the COVID-19 pandemic and lasted 3 years (2015–2017). Patients were asked to fill online: (a) an ad hoc questionnaire which collected information about the prescription and use of shoe inserts, orthopaedic shoes, AFOs and upper limb orthoses (with images of the different devices for facilitating identification by the patient, online supplemental figure 1 ); about side and total period of use; indication of who prescribed them; use at home and/or outside and for how much of the time for both situations; 10-point Visual Analogue Scales (VAS, 0 lowest, 10 highest) for their tolerability, perceived benefit and the emotional distress they caused; past or present complications (ulcers, sores, pressures, pain, others); reasons for choice of use or for non-tolerability/withdrawal; questions about use of knee orthotics, need of cane or crutch (unilateral or bilateral), scooter, wheelchair, electric wheelchair were also included; (b) the validated Italian version of the Quebec User Evaluation of Satisfaction with assistive Technology (QUEST), a self-assessed questionnaire composed of 12 statements, exploring the patient’s degree of satisfaction with their currently used AFO and the related services experienced.…”

“…We administered a series of online questionnaires to patients registered in the National CMT Registry 2 (www.registronmd.it) as previously reported. [12][13][14] Recruitment was conducted before the COVID-19 pandemic and lasted 3 years (2015-2017).…”

“…Each statement of QUEST is rated by a 5-point system (1 not satisfied at all, 5 very satisfied). 15 Patients were at the same time asked to fill in also other questionnaires, including the Hospital Anxiety and Depression Scale (HADS, Italian version) 16 concerning the presence of anxiety, depression and general distress, and the Modified Fatigue Impact Scale (MFIS, Italian version) 17 investigating the perception of fatigue; we could, thus, explore the correlation of orthotic devices prescription/use with neuropsychiatric status-HADS-T, total score and its HADS-Anxiety (HADS-A)/ Depression (HADS-D) subscores 12 -and fatigue-MFIS-T total score (general fatigue) and its MFIS-Physical (MFIS-P)/Cognitive (MFIS-C) subscores. 13 HADS-A and HADS-D scores ≥11 define the presence of anxiety/depression and HADS total score (HADS-T) ≥22 of general distress according to Singer and colleagues 18 while a total MFIS score >38 indicates abnormal fatigue, according to Flachenecker and colleagues.…”