Diseases Costs and Impact of the Caring Role on Informal Carers of Children with Neuromuscular Disease.

This study aims to evaluate the costs of informal care for children with neuromuscular disease and evaluate how physical and psychological health is associated with socio-demographic variables. A cross sectional design was used with a convenience sample of 110 carers that participated in this study. Participants were recruited from Spanish hospitals and rare diseases organizations. Economic costs and sociodemographic aspects were assessed using the economic costs questionnaire and the sociodemographic questionnaire. Physical and psychological health was evaluated using the CarerQol-7D, PHQ-15, Barthel Index, Zarit Overload Scale and Satisfaction with Life Scale. Carers of children with neuromuscular disease spent a large percentage of their annual income in physical therapy, psychological care and speech therapy. Informal costs differed according to the degree of dependency of the child. These were higher in those caregivers whose child under their care presented low functional independence. The loss of work productivity was related to marital status, use of professional services and the child's dependency. Finally, carers who were female, single or separated and without a job showed worse physical and psychological health. The results highlighted that carers have to face a number of high costs because of the non-existence of social protection and due to the child's diagnosis.

Effects of Teleassistance on the Quality of Life of People With Rare Neuromuscular Diseases According to Their Degree of Disability.

Rare neuromuscular diseases (RNMDs) are a group of pathologies characterized by a progressive loss of muscular strength, atrophy, fatigue, and other muscle-related symptoms, which affect quality of life (QoL) levels. The low prevalence, high geographical dispersion and disability of these individuals involve difficulties in accessing health and social care services. Teleassistance is presented as a useful tool to perform psychosocial interventions in these situations. The main aim of this research is to assess the effects of a teleassistance psychosocial program on the QoL levels of people with RNMDs who have different levels of disability. A sample of 73 participants was divided into an experimental group (n = 40), which participated in the intervention, and a control wait list group (n = 33). QoL was evaluated through the SIP and the SF-36, and disability through the WHO-DAS II. The participants with a moderate to severe level of disability were those who most benefited from the intervention. The results also revealed that the psychosocial teleassistance program was suitable to improve physical and psychosocial aspects of people suffering from a rare neuromuscular disease with a moderate level of disability, but just psychosocial aspects in those with a severe level of disability.

Signal-detection analysis of the WMS faces subtest: Results in amyotrophic lateral sclerosis patients.

About 30% of patients with amyotrophic lateral sclerosis (ALS) suffer from cognitive impairment and 10-15% suffer from frontotemporal dementia (FTD). Due to the patients' reduced motor function, a neuropsychological assessment with a low motor demand can be an advantage when evaluating patients, aiding its application. The present work has studied the usefulness of the Faces subtest of the Wechsler Memory Scale in 42 patients with ALS and 42 healthy volunteers applying Holdnack's Two-High Threshold model. The ALS group performed significantly worse in immediate and delayed discriminability. With respect to the presence of cognitive impairment, it seemed to be independent of the indexes proposed by Holdnack and Delis. On the other hand, motor problems were associated with delayed recognition while behavior alterations were linked to problems with delayed discriminability. ALS patients do not express differences in the bias index, in line with other types of previously studied pathologies.

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers.

BACKGROUND: Wolf-Hirschhorn Syndrome (WHS) is a rare, congenital disease characterized by a distinctive facial phenotype, seizures, intellectual disability and developmental delay, and pre and postnatal growth requiring lifelong care. The psychosocial status of the family caregivers of children diagnosed with WHS is unknown. This study aims to characterize the sociodemographic and psychosocial profile of WHS caregivers and analyze how these variables impact their quality of life (QoL) and well-being. RESULTS: The sociodemographic and clinical profile of 22 Spanish caregivers of children with WHS and the characteristics of those affected have been described. Significant relationships were found between sociodemographic and psychosocial characteristics among caregivers. The impact on the parents' QoL and negative relationship with the symptomatology were assessed. The use of engagement strategies such as problem focused coping was associated with improved psychological QoL and social support. CONCLUSIONS: WHS caregivers share similarities in their profile and needs with caregivers of children with other rare diseases. Pychosocial support groups involving parents caring for children with the same disease could improve caregivers' well-being and QoL by strengthening their social support network and using positive coping styles.

Intrusion errors during verbal fluency task in amyotrophic lateral sclerosis.

BACKGROUND: Numerous studies have noted the presence of a dysexecutive component of the ALS-FTD. The most widely replicated result refers to the significantly reduced verbal fluency of ALS patients when compared to healthy people. As ALS patients have motor alterations that interfere with production, qualitative studies have the advantage of being independent of the degree of motor disability and revealing patients' cognitive state. This study examined the production differences between 42 ALS patients who presented with different degrees of dementia and motor impairment and 42 healthy people. Production processes were studied by extending the administration time of a letter fluency task to 2 minutes for the phonemic verbal fluency (PVF) and semantic verbal fluency (SVF) categories. This ensured that the qualitative aspects of verbal fluency were addressed, paying special attention to the new perseverations and intrusions, as well as any clinical correlates that may exist. RESULTS: The ALS patients produced a significantly lower number of responses in PVF (p = .017) and SVF (p = .008). The rest of the indicators for frontal lobe alteration also suggested the existence of a dysfunction. The most remarkable results were the number of intrusions on the PVF task, which was much higher in the ALS group (p = .002). However, the number of perseverations did not differ significantly. CONCLUSIONS: This study highlights the value of intrusions in addressing cognitive deterioration in ALS patients. This deterioration seems to be independent of the degree of motor impairment and of behavioural alterations. Therefore, the value of the intromissions on the verbal fluency task was highlighted as an indicator of a new cognitive alteration, which can be easily evaluated, even retrospectively.

Using a Virtual Serious Game (Deusto-e-motion1.0) to Assess the Theory of Mind in Primary School Children: Observational Descriptive Study.

BACKGROUND: Given the interactive media characteristics and intrinsically motivating appeal, virtual serious games are often praised for their potential for assessment and treatment. OBJECTIVE: This study aims to validate and develop normative data for a virtual serious game (Deusto-e-motion1.0) for the evaluation of emotional facial expression recognition and social skills, both of which are components of the theory of mind. METHODS: A total of 1236 children took part in the study. The children were classified by age (8-12 years old), gender (males=639, females=597), and educational level (between the third and sixth years of Primary Education). A total of 10 schools from the Basque Country and 20 trained evaluators participated in this study. RESULTS: Differences were found in Deusto-e-motion1.0 scores between groups of children depending on age and gender. Moreover, there was a moderately significant correlation between the emotional recognition scores of Deusto-e-motion1.0 and those of the Feel facial recognition test. CONCLUSIONS: Deusto-e-motion1.0 shows concurrent validity with instruments that assess emotional recognition. Results support the adequacy of Deusto-e-motion1.0 in assessing components of the theory of mind in children.

Social Cognition in Chiari Malformation Type I: a Preliminary Characterization.

Chiari malformation type I (CM-I) is a neurological disorder in which cerebellar tonsils are herniated through the foramen magnum into the spinal canal. A wide spectrum of cognitive deficits underlying this pathology has been reported, but the literature about social cognition is insufficient. Clinical research has pointed out the cerebellar role in Theory of Mind (ToM), indicating that there are several disorders with cerebellar pathology that reveal a poorer performance in social cognition tasks. The main purpose of this study is to compare the performance on ToM tasks between CM-I patients and healthy controls. The protocol includes Faux Pas test, Happé's Strange Stories test, Ice-Cream Van task, the FEEL test, and the Word Accentuation Test. In order to eliminate the possible influence of covariables, physical pain and anxious-depressive symptomatology have been controlled for. According to the results, CM-I patients performed worse than matched healthy controls on ToM tasks, except for facial emotion recognition. These differences remained even after controlling for the neuropsychiatric variables and physical pain. Thus, it can be suggested that patients with CM-I are impaired in their social skills related to their performance on ToM tasks. These findings can be considered to be a preliminary approach to the specific study of social cognition in relation to CM-I since it is similar to other cerebellar pathologies and to previous literature on the cerebellum's role in social cognition.

Analysis of Visuospatial Abilities in Chiari Malformation Type I.

The involvement of the cerebellum in visuospatial abilities has been evidenced in numerous studies, based on the cerebellar-cortical circuitry. This domain has been evaluated in several patients with cerebellar disorders, but the assessment of visuospatial processing in Chiari malformation type I (CM-I) is scarce. The aim of this study is to analyze the visuospatial performance between CM-I adult patients and healthy controls. Participants have been tested using Block Design and Visual Puzzles subtests of the Wechsler Adult Intelligence Scale (WAIS), the Benton Judgment of Line Orientation test, and the Rey-Osterrieth Complex Figure test. The anxious-depressive symptomatology, the physical pain, and the premorbid intelligence have been controlled for, as well. The CM-I patients showed a significantly lower performance; however, after analyzing and controlling for the effect of clinical variables and psychopathological symptomatology, the main effect was maintained for visual puzzles and line orientation tasks. The findings suggest that CM-I patients show a poorer performance in tasks that require an exercise of perceptual reasoning without motor demand, accompanied by visualization and mental imagery of the stimuli. This study contributes towards the reinforcement of the evidence on the cognitive alterations associated to CM-I.

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

"An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion.

An instrument to measure perceptions of people with disabilities regarding the application of international vocational rehabilitation standards.

This study aimed to create a valid and reliable instrument to measure people with disabilities' perceptions regarding the extent of application of international standards issued by the Council of Europe, International Labour Organization, and the International Classification of Functioning, Disability and Health in vocational rehabilitation centers in the Basque country, Spain. The instrument items were selected from international recommendations and conventions issued by the International Labour Organization, Council of Europe, International Classification of Functioning, Disability and Health, and a vocational rehabilitation literature review. The instrument was translated from English to Spanish, and the content validity index of an expert panel survey was used to assess content validity. For the Spanish version of the instrument, internal consistency reliability, confirmatory factor analysis and factor analysis were examined with 186 people with disabilities in 10 vocational rehabilitation centers in the Basque country. The coefficient alpha estimate was 0.945, indicating excellent internal consistency. Three factors were identified: job-related services, aims of vocational rehabilitation center, and vocational rehabilitation guidance. The instrument appears to have good validity and reliability but requires further validation. Support is provided for its use in both English and Spanish. Implications for vocational rehabilitation practice and suggestions for future research are provided.

Instrument for Assessing the Ability to Identify Emotional Facial Expressions in Healthy Children and in Children With ADHD: The FEEL Test.

OBJECTIVE: This study presents the validation of a computerized assessment tool that studies the ability to recognize emotional facial expressions in children between 8 and 11 years of age: the Facially Expressed Emotion Labeling Test (FEEL Test). METHOD: The two tests composing the protocol were applied using a laptop in the following order: the FEEL Test followed by the Deusto-e-Motion 1.0 Test.The sample consisted of a total of 1,189 schoolchildren aged between 8 and 11 years, 594 boys and 594 girls. A clinical sample of 47 children with ADHD also took part in this study. RESULTS: The Cronbach's α coefficient for the total scale was .82, showing high levels of reliability. The difficulty index of the items ranged between .4 and .7. The statistical analyses showed a high rate of discrimination between those who obtained low scores compared with those who obtained high scores. The test results reflected differences according to age and gender of participants in many of the variables associated with both response accuracy and response speed. Regarding its predictive validity, the test is able to find statistically significant differences in the total test score among a group of children diagnosed with ADHD and a matched control group. CONCLUSION: This article presents the validation of an instrument that assesses the ability to recognize facial expressions in children between 8 and 11 years old and can discriminate and detect differences in gender, age, and possible deficits in social skills within the ADHD.

Comparison between decompressed and non-decompressed Chiari Malformation type I patients: A neuropsychological study.

BACKGROUND: Previous studies have suggested an association of Chiari Malformation type I (CM-I) and cognitive deficits. CM-I is a neurological disorder characterized by a descent of cerebellar tonsils into the foramen magnum, resulting in overcrowding of the upper cervical spine region. Posterior fossa decompression (PFD) is the surgical treatment of choice, however, the literature on the consequences for patients is mainly reduced to the assessment of physical symptoms. METHODS: Data from a neuropsychological assessment of 76 patients with CM-I, both with PFD (n = 37) and without PFD (n = 39) surgery, and 76 healthy controls, matched by gender, age and years of education are reported. RESULTS: CM-I patients show a generally lower cognitive performance in executive function, verbal fluency, spatial cognition, language (naming), verbal memory, processing speed, emotional facial recognition and theory of mind, compared to control group. The results are maintained even after statistically controlling for the influence of perceived physical pain and the presence of anxious-depressive symptomatology. Data also illustrate a similar cognitive profile between both groups with CM-I. CONCLUSION: These findings provide evidence of a deficient cognitive profile associated with CM-I, regardless of the PFD surgery. According to these results, both physical and cognitive consequences must be considered in the treatment of CM-I.

Chiari Type I Malformation Associated With Verbal Fluency Impairment.

Purpose: Chiari malformation (CM) Type I is a rare disorder that implies an anomaly in the craniocervical junction, where one or both cerebellar tonsils are displaced below the foramen magnum into the cervical spinal channel. Research carried out regarding cognitive symptoms such as verbal fluency is scarce. The aim of this study was to investigate whether verbal fluency is impaired in a CM clinical group compared to a group of healthy control individuals while controlling for depression and anxiety symptomatology. Method: For this purpose, 101 individuals were enrolled to take part in the study (51 CM, 50 healthy controls). The Controlled Oral Word Association Test (Benton, de Hamsher, & Sivan, 1983) and the Hospital Anxiety and Depression Scale (Zigmond & Snaith, 1983) were administered. Results: Results showed significantly lower scores for the CM group in verbal fluency compared to the control group (p < .005). After performing an analysis of covariance to eliminate depression and anxiety symptomatology tendencies, it was observed that verbal fluency could not be predicted by this variable (p > .005). Conclusions: From the results of this study, it can be concluded that people suffering from CM exhibit less verbal fluency than healthy control individuals and that this difference is not caused by depression or anxiety.

Cognitive Functioning in Chiari Malformation Type I Without Posterior Fossa Surgery.

Chiari Malformation type I (CM-I) is a neurological disorder characterized by a displacement of the cerebellar tonsils through the foramen magnum into the spinal canal. Most research has focused on physical symptomatology but few studies include neuropsychological examinations. Moreover, although current research highlights the involvement of the cerebellum on higher cognitive functions, little is known about cognitive consequences associated with CM-I. The aim of this study is to analyze cognitive functioning between 39 CM-I patients and 39 healthy controls, matched by gender, age and years of education. Participants have been examined on a large battery of neuropsychological tests, including executive functioning, verbal fluency, spatial cognition, language, verbal memory, processing speed, facial recognition and theory of mind. Results show a poorer performance of the clinical group compared to the control group, even after controlling the effect of physical pain and anxious-depressive symptomatology. The findings suggest the presence of a generalized cognitive deficit associated with CM-I, which makes it necessary to focus attention not only on physical consequences, but also on cognitive ones.

Accuracy and reaction time in recognition of facial emotions in people with multiple sclerosis.

INTRODUCTION: Facial emotional expression constitutes a basic guide in the social interaction and, thus, the alterations in its expression or recognition imply an important limitation for the communication. On the other hand, cognitive impairment and the presence of depressive symptoms, which are commonly found in patients with multiple sclerosis, it is unknown how they influence cognitive function and depression on emotional recognition. AIMS: To consider the evaluation of time reaction and response accuracy of facial expression recognition in people affected by multiple sclerosis, and to assess the possible variables that may be modulating the emotion recognition, such as depression and cognitive functions. SUBJECTS AND METHODS: The study has a cross-sectional non-experimental design with a single measurement. The sample is compound by 85 participants, 45 diagnosed as multiple sclerosis and 40 control subjects. RESULTS: Multiple sclerosis subjects reveal significant differences in both reaction time and response accuracy in neuropsychological tests in comparison to the control group. Explanatory models were identified in the emotional recognition. CONCLUSION: Multiple sclerosis subjects face difficulties at recognising facial emotions; and differences at attention memory, processing speed and depressive symptomatology were observed in regard to the control group.

TITLE: Precision y tiempo de reaccion en el reconocimiento de emociones faciales en personas con esclerosis multiple.Introduccion. La expresion facial emocional constituye una guia basica en la interaccion social y, por lo tanto, las alteraciones en su expresion o reconocimiento implican una limitacion importante para la comunicacion. Por otro lado, el deterioro cognitivo y la presencia de sintomas depresivos, que se encuentran comunmente en los pacientes con esclerosis multiple, no se sabe como influyen en el reconocimiento emocional. Objetivo. Considerar la evaluacion del tiempo de reaccion y precision en la respuesta de reconocimiento de expresiones faciales de las personas afectadas por esclerosis multiple y valorar las posibles variables que pueden modular el reconocimiento de emociones, como la depresion y las funciones cognitivas. Sujetos y metodos. El estudio tiene un diseño no experimental transversal con una sola medicion. La muestra esta compuesta por 85 participantes, 45 con diagnostico de esclerosis multiple y 40 sujetos control. Resultados. Los sujetos con esclerosis multiple revelaban diferencias significativas tanto en el tiempo de reaccion y la precision de respuesta en pruebas neuropsicologicas en comparacion con el grupo control. Se identificaron modelos explicativos en el reconocimiento emocional. Conclusion. Los sujetos con esclerosis multiple se enfrentan a dificultades en el reconocimiento de emociones faciales, y se observaron diferencias en la memoria, atencion, velocidad de procesamiento y sintomatologia depresiva en relacion con el grupo control.

Precisión y tiempo de reacción en el reconocimiento de emociones faciales en personas con esclerosis múltiple / Accuracy and reaction time in recognition of facial emotions in people with multiple sclerosis

Introducción. La expresión facial emocional constituye una guía básica en la interacción social y, por lo tanto, las alteraciones en su expresión o reconocimiento implican una limitación importante para la comunicación. Por otro lado, el deterioro cognitivo y la presencia de síntomas depresivos, que se encuentran comúnmente en los pacientes con esclerosis múltiple, no se sabe cómo influyen en el reconocimiento emocional. Objetivo. Considerar la evaluación del tiempo de reacción y precisión en la respuesta de reconocimiento de expresiones faciales de las personas afectadas por esclerosis múltiple y valorar las posibles variables que pueden modular el reconocimiento de emociones, como la depresión y las funciones cognitivas. Sujetos y métodos. El estudio tiene un diseño no experimental transversal con una sola medición. La muestra está compuesta por 85 participantes, 45 con diagnóstico de esclerosis múltiple y 40 sujetos control. Resultados. Los sujetos con esclerosis múltiple revelaban diferencias significativas tanto en el tiempo de reacción y la precisión de respuesta en pruebas neuropsicológicas en comparación con el grupo control. Se identificaron modelos explicativos en el reconocimiento emocional. Conclusión. Los sujetos con esclerosis múltiple se enfrentan a dificultades en el reconocimiento de emociones faciales, y se observaron diferencias en la memoria, atención, velocidad de procesamiento y sintomatología depresiva en relación con el grupo control (AU)

Introduction. Facial emotional expression constitutes a basic guide in the social interaction and, thus, the alterations in its expression or recognition imply an important limitation for the communication. On the other hand, cognitive impairment and the presence of depressive symptoms, which are commonly found in patients with multiple sclerosis, it is unknown how they influence cognitive function and depression on emotional recognition. Aims. To consider the evaluation of time reaction and response accuracy of facial expression recognition in people affected by multiple sclerosis, and to assess the possible variables that may be modulating the emotion recognition, such as depression and cognitive functions. Subjects and methods. The study has a cross-sectional non-experimental design with a single measurement. The sample is compound by 85 participants, 45 diagnosed as multiple sclerosis and 40 control subjects. Results. Multiple sclerosis subjects reveal significant differences in both reaction time and response accuracy in neuropsychological tests in comparison to the control group. Explanatory models were identified in the emotional recognition. Conclusion. Multiple sclerosis subjects face difficulties at recognising facial emotions; and differences at attention memory, processing speed and depressive symptomatology were observed in regard to the control group (AU)

Effectiveness of teleassistance at improving quality of life in people with neuromuscular diseases

Rare neuromuscular diseases (NDs) are a group of inherited or acquired neurological pathologies affecting the muscles and the nervous system. Their low prevalence and high geographical dispersion can cause isolation and difficulties in social interaction between affected equals. New technologies, such as videoconferencing, offer a complementary option for improving the health of this population. The purpose of this study was to assess the effectiveness of a teleassistance program at improving health-related quality of life (HRQoL) through social interaction in adults with NDs. The sample consisted of 45 participants affected by rare NDs. Twenty-four participants were assigned to the experimental group (EG), which participated in the videoconferencing sessions, and 21 to the control group. Three questionnaires were administered: WHO-DAS II, Sickness Impact Profile, and SF-36 Health Survey. Effectiveness was assessed by a pre-post design. An online psychosocial program was applied over three-month period. Data revealed an improvement of the EG in psychosocial variables, e.g. «Getting along with people» (z = -2.289, r = -.47, p ≤ .05) or «Psychosocial Domain» (z = -2.404, r = -.49, p ≤ .05), and in physical variables, e.g. «Life activities» (z = -2.844, r = -.58, p ≤ .05). Social interaction appeared as a relevant factor at improving HRQoL levels. High levels of satisfaction about the teleassistance program were reported (AU)

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Anxiety, Depression and Self-Efficacy in Patients with Myasthenia Gravis

Myasthenia is an autoimmune disease of neuromuscular transmission. This disease is typically characterised by muscle weakness, which is exacerbated by the performance of certain activities or exercise; patients usually recover with rest. Some studies have noted that people with myasthenia gravis have significantly higher depression scores than control participants. Extended experience with neuromuscular disease symptoms has been correlated with mood disorder symptoms. The present study measured and compared the presence of depression, anxiety and self-efficacy as well as the relationships among these variables in people with myasthenia gravis. An evaluation scale for this disease was specifically adapted. A total of 52 participants with myasthenia gravis were given two tests: the HAD questionnaire, which measures depression, and the general self-efficacy questionnaire (GSE). This study found a significantly correlation between anxiety and depression in people with myasthenia gravis. A correlation between self-efficacy and depression was also observed (AU)

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Effectiveness of teleassistance at improving quality of life in people with neuromuscular diseases.

Rare neuromuscular diseases (NDs) are a group of inherited or acquired neurological pathologies affecting the muscles and the nervous system. Their low prevalence and high geographical dispersion can cause isolation and difficulties in social interaction between affected equals. New technologies, such as videoconferencing, offer a complementary option for improving the health of this population. The purpose of this study was to assess the effectiveness of a teleassistance program at improving health-related quality of life (HRQoL) through social interaction in adults with NDs. The sample consisted of 45 participants affected by rare NDs. Twenty-four participants were assigned to the experimental group (EG), which participated in the videoconferencing sessions, and 21 to the control group. Three questionnaires were administered: WHO-DAS II, Sickness Impact Profile, and SF-36 Health Survey. Effectiveness was assessed by a pre-post design. An online psychosocial program was applied over three-month period. Data revealed an improvement of the EG in psychosocial variables, e.g. "Getting along with people" (z = -2.289, r = -.47, p ≤ .05) or "Psychosocial Domain" (z = -2.404, r = -.49, p ≤ .05), and in physical variables, e.g. "Life activities" (z = -2.844, r = -.58, p ≤ .05). Social interaction appeared as a relevant factor at improving HRQoL levels. High levels of satisfaction about the teleassistance program were reported.