Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study.

BACKGROUND AND OBJECTIVES: Quality of life (QoL) in children with facioscapulohumeral dystrophy (FSHD) seems plausible decreased. Little is known about factors influencing QoL in children with FSHD. Our objective is to explore factors contributing to the QoL of children, adolescents, and young adults with FSHD, to describe how they experience life with FSHD, and to report their support needs. METHODS: We performed a mixed-method study with individual age-appropriate semi-structured interviews assessing QoL in children, adolescents, and young adults with FSHD and their parents. To characterize the sample, quantitative data on QoL, pain, fatigue, and participation were collected. Interview data was analyzed using a thematic analysis. RESULTS: Fourteen patients participated (age between 9 and 26 years old, eight males and six females). The degree of FSHD severity, as indicated by the FSHD-score, did not correlate with QoL. Older children had a lower QoL than younger children. Children and adolescents strived for normality regardless of physical discomfort. Phenotypical features of FSHD led to insecurity aggravated by hurtful comments of others. The unpredictability of disease progression and its implications for career and parenthood choices led to a generalized feeling of uncertainty about the future. Support was found within family and friends. Participants expressed a need for peer support and psychological support as well as recommending it to others. DISCUSSION: Quality of life in childhood FSHD is diminished caused by their physical limitations, altered appearance, fear of social rejection, and uncertainty of the disease progression in the future. A fear of social rejection most likely contributes to striving for normality regardless of physical discomfort. Support should be focused on acceptance and coping with hurtful comments. It should preferably be individualized, easily accessible and not offered as therapy but rather as tutoring for children.

Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.

Background: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities. Objective: We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD. Methods: A systematic search was performed. Selected studies had to include FSHD, Bell's palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease and treatment options which target altered facial expression. Data was extracted for study and patients' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning. Results: Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell's palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures. Conclusions: Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.

Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases.

PURPOSE: To perform a scoping review to investigate the psychosocial impact of having an altered facial expression in five neurological diseases. METHODS: A systematic literature search was performed. Studies were on Bell's palsy, facioscapulohumeral muscular dystrophy (FSHD), Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease patients; had a focus on altered facial expression; and had any form of psychosocial outcome measure. Data extraction focused on psychosocial outcomes. RESULTS: Bell's palsy, myotonic dystrophy type 1, and Parkinson's disease patients more often experienced some degree of psychosocial distress than healthy controls. In FSHD, facial weakness negatively influenced communication and was experienced as a burden. The psychosocial distress applied especially to women (Bell's palsy and Parkinson's disease), and patients with more severely altered facial expression (Bell's palsy), but not for Moebius syndrome patients. Furthermore, Parkinson's disease patients with more pronounced hypomimia were perceived more negatively by observers. Various strategies were reported to compensate for altered facial expression. CONCLUSIONS: This review showed that patients with altered facial expression in four of five included neurological diseases had reduced psychosocial functioning. Future research recommendations include studies on observers' judgements of patients during social interactions and on the effectiveness of compensation strategies in enhancing psychosocial functioning.

Negative effects of altered facial expression on psychosocial functioning are common and more abundant in women and in more severely affected patients with various neurological disorders.Health care professionals should be alert to psychosocial distress in patients with altered facial expression.Learning of compensatory strategies could be a beneficial therapy for patients with psychosocial distress due to an altered facial expression.

'Everybody is watching me': A closer look at anxiety in people with facial palsy.

OBJECTIVES: Objectives were to evaluate the sociodemographic and disease-related factors, and coping style associated with social interaction and social appearance anxiety in people with unilateral facial palsy. METHODS: Medical data were extracted from electronic health records, and participants completed the Social Interaction Anxiety Scale (SIAS), Social Appearance Anxiety Scale (SAAS), and Coping Orientation to Problems Experienced inventory. Associations of SIAS and SAAS scores with sociodemographic and disease variables, and coping were assessed with multiple linear regression. RESULTS: Among 111 participants (mean age 58.6 years; 59% women), higher age and greater use of emotion-focused coping were associated with lower SIAS scores, whereas greater use of avoidant coping was associated with higher SIAS scores. Higher age, male sex, and greater use of emotion-focused coping were associated with lower SAAS scores, whereas greater use of avoidant coping was associated with higher SAAS scores. CONCLUSIONS: Healthcare providers should understand that women and younger people are more likely to have social appearance concerns and that this is not predicted by the objective severity of facial palsy.

Psychological counselling in patients with a peripheral facial palsy: initial experience from an expert centre.

BACKGROUND: The aims of this pilot study were to evaluate the psychologist's role on the multidisciplinary team during peripheral facial palsy (PFP) patient care and to identify the potential predictors of anxiety and depressive symptoms/disorders in PFP patients. METHODS: Using the prospective non-controlled study design, PFP patients aged 18-75 years who presented to the Radboud Facial Palsy Expert Centre, the Netherlands, were enrolled during a 1-year interval. The main outcome variables were 1) anxiety and depression in relation to PFP using the Hospital Anxiety and Depression Scale (HADS) and 2) the outcome of psychological counselling in patients with a HADS score ≥ 8. RESULTS: A sample comprised 25 patients (68% females, 56% right-side PFP, 16% House-Brackmann scale I-II) with a mean age of 50 ± 14 years were referred to a psychologist. The proportion of patients with a HADS score ≥8, were 16 (64%) and 13 (52%), respectively. Especially, coping (in general or coping with the disease, 48%) and/or help with the choice of possible surgery (8.0%) were important reasons for counselling. In one case, a patient had chronic fatigue syndrome and was therefore referred to a psychological specialist centre. One patient was treated with acceptance and commitment therapy (ACT) with good results. CONCLUSIONS: Despite a small sample size and limited statistical analyses, the results of this study suggest that one-eighth of the PFP patients require psychological evaluation and treatments. This pilot study emphasises the important role of psychological screening and counselling in PFP patient care.

Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study.

PURPOSE: This study focuses on the functional and psychosocial consequences of facial weakness of patients with facioscapulohumeral muscular dystrophy (FSHD) and how they manage their daily lives. MATERIALS AND METHODS: We conducted a qualitative study. Sixteen FSHD patients with varying degrees of facial weakness were interviewed using a semi-structured interview guide. Data were analyzed using the constant comparison approach based on the Straussian Grounded Theory. RESULTS: Reduced facial expression affected different aspects of a participant's life, which is reinforced by fatigue. Particularly the younger participants described the confrontation with reduced facial expression as upsetting. The unpredictability of the progression of facial weakness makes many participants insecure and concerned. They generally tend to avoid discussing facial weakness with loved ones as well as with strangers. CONCLUSIONS: Patients would like the expert teams to shed more light on effective skill training and psychosocial support, especially for the younger patient group. A multidisciplinary approach is needed in addition to programs focusing on the individual aspects of facial weakness. As the experienced psychosocial effect is not commonly equal to the objective degree of facial weakness, we recommend a tailored approach. Finally, these programs should point out the importance of the patient's own ingenuity.Implications for RehabilitationFacial weakness affects both activities and social participation in patients with facioscapulohumeral muscular dystrophy (FSHD), which is reinforced by fatigue.Many participants try to stay down to earth and focus on their ability to self-manage their obstacles regarding facial weakness.Thus, future treatment programs should have a multidisciplinary approach and should point out the importance of the patient's own ingenuity.

Association between duration of peripheral facial palsy, severity, and age of the patient, and psychological distress.

BACKGROUND: Peripheral facial palsy (PFP) (paralysis) can be a devastating condition that has been shown to have associations with increased depression and worse quality of life. The aim of the present study is to better understand the complex association of psychological distress with the duration, severity, and age of patients with PFP. We hypothesize that a shorter duration of PFP is associated with higher levels of psychological distress. METHODS: Fifty-nine patients with PFP that existed longer than 3 months were included in this study. The Hospital Anxiety and Depression Scale (HADS) was used to assess the presence and severity of anxiety and depressions. Spearman's correlation analysis was used to determine correlation between psychological distress, duration, severity of the PFP, and age. RESULTS: Fifty-nine patients were included in this study, of whom 22 were male and 37 were female. The mean age was 55.6 ±â€¯14.6 years and mean duration of PFP from onset ranged from 3 months to 35 years (with a mean duration of 5.39 ±â€¯6.06 years). Twenty-eight patients had left-sided PFP, 30 patients had right-sided PFP, and one patient had bilateral PFP. The majority were caused by Bell's palsy (50.8%). In the group with a duration less than 5 years, there were five (12.8%) patients having a score between 11 and 15 (on HADS) compared to two (10%) patients in the group with a duration of 5 years or more(p = 0.04). CONCLUSION: There seems to be an association between moderate depression and duration of the PFP. Further studies need to substantiate our findings.

A closer look at the paralyzed face; a narrative review of the neurobiological basis for functional and aesthetic appreciation between patients with a left and a right peripheral facial palsy.

BACKGROUND: The facial nerve or n. facialis (NVII) is the seventh cranial nerve and it is responsible for the innervation of the mimic muscles, the gustatory organ, and the secretomotor function to the salivary, lacrimal, nasal and palatine glands. Clinical presentation of Facial Palsy (FP) is characterized by unilateral facial asymmetry and may present with a change in taste, decreased saliva production, and dysarthria. A facial palsy has a notable effect on the facial appreciation by both the patient and the environment and also affects quality of life and emotional processing. There appear to be differences in the appreciation of people with a left and right facial palsy. PURPOSE OF THIS REVIEW: The purpose of the review is to give an overview of the anatomy of the facial nerve, neuro-anatomy of face processing, and hemispheric specialization and lateralization. Further,an overview is given of the clinical studies that translated the neuro-anatomical and neurobiological basis of these concepts into clinical studies. What this review adds: This review emphasizes the neurobiological evidence of differences in face processing between the left and right cerebral hemisphere, wherein it seems that the right hemisphere is superior in emotional processing. Several theories are proposed; 1) a familiarity hypothesis and 2) a left-right hemispheric specialization hypothesis. In clinical studies, promising evidence might indicate that, in patients with FP, there is indeed a difference in how left and right FP are perceived. This might give differences in decreased quality of life and finally in occurrence of depression. Further research must aim to substantiate these findings and determine the need for altering the standard therapeutic advice given to patients.

Quality of life before and after different treatment modalities in peripheral facial palsy: A systematic review.

OBJECTIVES: A systematic review was conducted to investigate the effect of peripheral facial palsy (PFP) on the quality of life (QoL). Secondly, we investigated if different treatment modalities influence the QoL of patients with PFP. METHODS: A multidatabase systematic literature search was performed using the following databases: PubMed, Embase, MEDLINE, and The Cochrane Library from the earliest date of each database up to August 2015. The inclusion criteria were either prospective and/or retrospective cohort trials and/or case series measurement of QoL before and after treatment, patients with PFP (irrespective of etiology), and various treatment modalities (medication, physical therapy, botulinum toxin injections, and several types of surgical procedures). Two authors rated the methodological quality of the included studies independently using the Newcastle-Ottawa Quality Assessment Scale for nonrandomized studies. RESULTS: Two hundred fifty-eight studies were found, of which 14 studies met the inclusion criteria. Most studies were assessed to be of fair to good methodological quality. The Cohen's κ (between author r.e.l. and s.p.) was 0.68. Eight different questionnaires were used to measure QoL, of which the Facial Clinimetric Evaluation scale was used most frequent. After different modalities, all studies showed significant improvements in terms of QoL. CONCLUSIONS: This study found significant improvement when measuring QoL before and after different treatment modalities in patients with peripheral facial palsy. Future research should focus on patients with PFP due to the same etiology and use of valid QoL instruments for outcome measures. Laryngoscope, 127:1044-1051, 2017.