Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews.

To describe the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) in relation to epileptic seizures and/or convulsions, their daily management and impact on family life. A qualitative descriptive study was conducted. The study included parents of children diagnosed with PMS by a medical specialist. Purposive sampling was used, and data were collected via in-depth interviews. A thematic analysis was performed on the data. This study was conducted according to the Standards for Reporting Qualitative Research. Thirty-two parents were recruited. Four themes were identified: (a) the first epileptic seizure, where the first seizure appears abruptly and unexpectedly; (b) living with seizures, seizures generate high concern about the evolution of the disease and the future of children with PMS; (c) treatment of epileptic seizures, obtaining an adequate treatment is a long process that involves decision making by parents; (d) the impact of epilepsy on the family, where there is a change in the functioning and relationships among family members.  Conclusions: It is necessary to develop programs where parents can discuss treatment decisions with professionals and provide coping strategies for the management of epilepsy and seizures. What is Known: • Children with Phelan-McDermid syndrome may develop epilepsy. Parents receive insufficient information for the management and control of seizures. • Parents describe concerns about the evolution of epilepsy in their children's adulthood, along with the impact of seizures and/or convulsions on their children. What is New: • Epilepsy and seizures force the entire family to adapt their lifestyle and give up activities that can trigger seizures. • Parents pointed out the need to create programs to inform about the benefits and disadvantages of pharmacological treatments in order to improve decision making.

Social and Family Challenges of Having a Child Diagnosed with Phelan-McDermid Syndrome: A Qualitative Study of Parents' Experiences.

(1) Background: Phelan-McDermid Syndrome (PMS) in children causes significant challenges affecting social and family relationships. The purpose of this study was to explore the experience of parents with children diagnosed with PMS regarding interactions with their social environment; (2) Methods: A qualitative descriptive study was conducted. Participants were recruited using non-probabilistic purposeful sampling. In total, 32 parents of children with PMS were included. In-depth interviews and researchers' field notes were used to collect the data. An inductive thematic analysis was performed; (3) Results: Five themes were identified: (a) challenges in the relationship as a couple; (b) challenges within the family and close social relationships; (c) challenges in the educational-school environment; (d) challenges in the health environment and with health professionals, and (e) reconnection through the PMS association. It would be beneficial for parents to create training programs on PMS in the educational and healthcare settings, to promote the participation of professionals in the PMS association and to develop care programs focusing in their physical, psychological and social health.

Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study.

Phelan-McDermid syndrome (PMS) is a genetic disorder caused by a mutation or deletion of the SHANK3 gene (chromosome 22q13.3), characterized by different sensory processing anomalies. The objective of this study is to expand and provide a detailed definition of the sensory profile of patients with PMS. The secondary objective was to examine the relationship between sensory patterns and adaptive behavior. A cross-sectional study was carried out among 51 Spanish patients with a confirmed genetic diagnosis of PMS. All the participants' parents completed the Short Sensory Profile-Spanish (SSP-S) and the Adaptive Behavior Assessment System II (ABAS-II). Correlational, multiple regression and hierarchical cluster analyses were performed. An atypical sensory profile was identified in almost 75% of PMS patients. Definite differences were found among scores; nonetheless, sub-threshold values were observed in tactile sensitivity, underresponsive/seeks sensation, auditory filtering, and low energy/weak sensory categories. Conceptual, social, and practical domains, as well as the General Adaptive Composite (GAC) of the ABAS-II showed extremely low scores (i.e., <70). Significant correlations were found (p<0.005) between SSP-S scores and the conceptual, social, practical, and GAC index of the ABAS-II, whereby higher SSP-S scores were associated with better skills and higher adaptive performance. The cluster analysis indicated that the group with the largest mutation size (7.23 Mb) showed the greatest sensory processing difficulties and very low adaptive skills. CONCLUSIONS: Patients with PMS show an atypical sensory profile, which correlates with limitations in general adaptive behaviors. WHAT IS KNOWN: • PMS sensory processing difficulties were associated with a pattern of underresponsive/seeks sensation, low energy/weak, and tactile hyporeactivity. • Sensory processing difficulties have been associated with limitations in the development of appropriate adaptive communication and interaction behaviors. WHAT IS NEW: • Sensory definite differences associated with tactile hyperreactivity, as well as significant effects of underresponsiveness/seeks sensation and auditory filtering categories on the adaptive abilities were found in SHANK3deletion patients. • Cluster analysis suggests that smaller mutation sizes were related to better sensory processing and higher adaptive skills, while patients with larger deletion sizes have greater adaptive difficulties and worse sensory processing skills.

Clinical validation of the Allen's Cognitive Level Screen in acquired brain injury.

BACKGROUND: The evaluation of functional cognition is a central concern in clinical practice. However, there are few standardized or validated tools, and many of them take too long, requiring screening tests. AIMS: To explore the convergent validity of the ACLS-5 with other cognitive screening test and functional independence test in a sample of people with acquired brain injury. Moreover, to examine the prediction of ACLS-5 on functioning and cognitive performance outcomes. MATERIALS AND METHODS: A cross-sectional design was applied following the guidelines of the STROBE checklist. A consecutive sample of people with acquired brain injury was recruited from rehabilitation centers. A cognitive screening test and daily living activity tests were implemented, such as ACLS-5, MoCA, Barthel, and FIM+FAM. Data were analyzed using non-parametric methods. In addition, a structural analysis and simple regression models were performed. RESULTS: Eighty patients with chronic acquired brain injury, with a mean age of 52, were recruited. All tests are significantly related to the ACLS-5 score, a moderate effect size for MoCA (ρ = 0.36), and a strong effect size for the other two (ρ > 0.50). CONCLUSIONS: ACLS-5 predicts functional and cognitive performance quickly and effectively, optimizing assessment time and avoiding mental fatigue or physical exhaustion.

Empathy in occupational therapy students: a cross-sectional study at a Spanish university.

INTRODUCTION: Empathy is an important interpersonal skill and a fundamental component in the professional-patient relationship, being the basis for implementing person-centred practice. In several studies, a decrease in empathy levels throughout training in medicine, nursing or dentistry, among others, has been shown. There are few studies on the occupational therapy branch of healthcare. The aim was to determine the degree of empathy perceived by students of occupational therapy at a Spanish university, as well as to analyse the differences between empathy levels according to the different degree courses and gender. METHODS: A descriptive cross-sectional study was designed with a sample of 221 occupational therapy students from a Spanish university. The Davis Interpersonal Reactivity Index (IRI) and the Jefferson Scale of Empathy-Health Profession Student's Spanish version (JSPE-HPS-S) were used as outcome measures. RESULTS: According to the results found, high level of empathy was found on all dimension of the IRI (69.84 (9.80)) and the JSPE-HPS-S (122 (94-140)). Although high levels of empathy among occupational therapy students are observed in all degree courses, no significant differences were found between them. Statistically significant differences and a moderate effect size (r) were found between the variables according to the gender of the participants, with females showing greater empathy in the overall scores of the IRI as well as in the JSPE-HPS-S (p=0.002, r=0.212; p=0.001, r=0.327, respectively). CONCLUSIONS: Empathy is an essential competence for the development of quality occupational therapy practice. According to the results and although occupational therapy students showed high levels of empathy, it is important to pay attention to the evolution of empathy and to provide students with learning experiences that prevent its possible decline.

"Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome.

(1) Background: Parents of children with rare diseases experience great uncertainty and employ different strategies to care for their children and cope with the disease. The purpose of the present study was to describe the perspective of parents with children with Phelan McDermid Syndrome (PMS). (2) Methods: A non-probabilistic purposeful sampling was used to perform this qualitative descriptive study. Thirty-two parents with children with PMS were interviewed. In-depth interviews and research field notes were analyzed using an inductive thematic analysis. (3) Results: Four themes emerged from the data. "Understanding and accepting the disease" described how parents experienced their child's diagnosis and the lack of information. The second theme, called "Living day by day", highlighted the daily difficulties faced when caring for a child with PMS. The third theme, "Expectations versus reality", was based on the parents' expectations of parenthood and the reality they face. Expectations for the future are also included. Finally, "Pain and happiness" describes how parents alternate feelings of distress and suffering but also joy with what they learn from these experiences. (4) Conclusions: Health professionals can use these results to support parents.

Cultural adaptation and psychometric properties of the Jefferson empathy scale health professions students' version in SpanishOccupational therapy students.

BACKGROUND: In occupational therapy, empathy is a fundamental concept and has a positive impact on health and quality of care outcomes for patients. It is a basic and essential concept that should prevail in the training of occupational therapy students. The aim of this study is to validate and cross-culturally adapt the Jefferson Medical Empathy Scale, version for health professionals (JSE-HPS) in a sample of Spanish university students of occupational therapy. METHODS: A cross-sectional descriptive study was conducted between 2019 and 2020. A convenience sample was selected, consisting of 221 students from the four courses of the Occupational Therapy degree at the Universidad Rey Juan Carlos during the 2019-20 academic year. Each of the participants voluntarily and anonymously completed a sociodemographic data sheet (including age and sex), in addition to the following assessment scales: JSE-HPS and the Interpersonal Reactivity Index (IRI). RESULTS: A culturally adapted version of the JSE-HPS that guarantees conceptual and grammatical equivalence specific to the study population was obtained. The psychometric analysis of the translated version showed a Cronbach coefficient α of 0.786. The test-retest reliability analysis showed an intraclass correlation coefficient of 0.90 (95% CI = 0.86-0.93, p < 0.0001). Confirmatory factor analysis (CFA) showed positive results (χ2 = 269.095, df = 167, p < 0.001, Confirmatory Fit Index [CFI] = 0.90, Root Mean Square Error of Approximation [RMSEA] = 0.04). CONCLUSION: The cultural adaptation and psychometric results suggest that the Spanish version of the JSE-HPS is a valid and reliable way to evaluate the empathic ability of occupational therapy students.

A Descriptive Cross-Sectional Study of Manipulative Dexterity on Different Subtypes of Multiple Sclerosis.

BACKGROUND: Manipulative dexterity impairments affect 76% of individuals with multiple sclerosis (MS). Patients with MS can experience reduced skill when performing both basic activities of daily living and instrumental activities of daily living. Many studies consider that physical rehabilitation leads to a decrease in the level of disability, especially at the mild and moderate stages of the disease. However, most studies fail to distinguish between the different MS subtypes. PURPOSE: Our aims were (1) to describe the manipulative skills of people according to the different subtypes of MS, (2) to analyze the correlation between dexterity and self-perception variables, and (3) to identify possible predictors of functionality. Study Design. A descriptive cross-sectional study. METHODS: 30 individuals with MS. The measurement tools used were the ABILHAND, the Purdue Pegboard Test (PPT), the Nine-Hole Peg Test, and the Box and Block Test. RESULTS: All subtypes of MS obtained lower scores for manipulative dexterity compared to normal skill levels, with individuals with primary progressive MS displaying the lowest values. However, the analysis of differences between the different subtypes did not reveal statistically significant intragroup differences. In addition, differences were found regarding the effect size of practically all the variables analyzed for both manipulative dexterity (PPT, NHPT, and BBT) and the self-perception of ADLs (ABILHAND), for which high values (d r = 0.72) and very high values (d r = 1.46) were obtained. CONCLUSIONS: Although no significant differences were found between the different types of MS, the assessment of manual dexterity and perceived efficacy of daily activities must be considered as prognostic factors in the progression of the disease. These findings may help support further research on targeted interventions to improve dexterity deficiencies, as well as promote an improved quality of therapeutic interventions.