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.

Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan-McDermid syndrome: A qualitative study.

AIM: To explore the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) with regard to the diagnostic process, treatment, and medical care. METHOD: A qualitative descriptive study was conducted. Participants were recruited using non-probabilistic purposeful sampling. In total, 32 parents with children with PMS were included. In-depth interviews and researcher field notes were used. An inductive thematic analysis was performed. RESULTS: Five themes were identified: (1) the 'diagnostic process' describes the diagnostic process and how it is communicated to the parents; (2) 'treatment and expectations' describes the expectations and hopes placed on future treatment; (3) 'family planning' describes how parents deal with genetic counselling when planning to have more children after a diagnosis of PMS; (4) 'the world of disability' describes the entry of parents into an environment of dependency and disability after the diagnosis; (5) 'family's financial situation' highlights the financial difficulties due to the high cost of therapies and daily care products. INTERPRETATION: Our results provide insight on how a diagnosis of PMS and its consequences are experienced by parents of children with PMS. These results can be used by health professionals to help and support parents.

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.

Mental Practice and Manipulative Skills Training Among People With Multiple Sclerosis: A Pilot Study.

IMPORTANCE: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system that produces both motor and cognitive dysfunctions. Impairments in limb function as a result of MS cause a decline in the performance of activities of daily living (ADLs). OBJECTIVE: To determine whether the use of mental practice (MP) or MP combined with training in motor manipulation skills (skills training) would improve gross and fine motor skills and treatment satisfaction among people with MS. DESIGN: Pilot study with a duration of 3 mo plus 3-mo follow-up. SETTING: Two MS associations. PARTICIPANTS: Thirty-five patients diagnosed with MS of the relapsing-remitting and progressive secondary subtypes, ages 25 to 60 yr. INTERVENTION: The participants were allocated to one of three groups according to their order of inclusion in the study: (1) MP, (2) MP + skills training, or (3) control group. The treatment protocol had a 6-wk duration and a total of 12 sessions. Outcomes and Measures: Blinded evaluators performed three assessments for each patient (pretreatment, posttreatment, and 3-mo follow-up) using the Nine-Hole Peg Test, Box and Block Test, ABILHAND, and Canadian Occupational Performance Measure (COPM). RESULTS: We found no evidence of benefits in self-perceived performance of ADLs with respect to gross and fine motor skills; however, there was an improvement in perceived satisfaction and in the performance of activities, independent of the treatment received. CONCLUSIONS AND RELEVANCE: Perceived ADL performance and satisfaction with performance increases among people with MS when they receive MP, MP + skills training, and conventional rehabilitation treatment. What This Article Adds: Mental practice combined with conventional treatment could contribute to patients perceiving improved performance of ADLs. Self-reported outcome measures, such as the COPM, could provide highly valuable information about occupation performance that may not match the objective evidence.

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.

Female Family Caregivers' Experiences During Nursing Home Admission: A Phenomenological Qualitative Study.

The experience of nursing home (NH) admission has a significant impact on older adults and their relatives. The aim of the current study is to describe the life experiences of female family caregivers (N = 20) after long-stay NH admission of their relative. A qualitative phenomenological approach was followed with purposeful sampling. Data were collected over 18 months using unstructured interviews, letters, and diaries and were analyzed using systematic text condensation analysis. Three themes emerged: The Value of Experience: Deciding on Admission and Defending One's Criteria; Living on Two Sides of the Same Coin; and Maintaining Contact. Results provide insight into female caregivers' experiences of NH admission, which may improve relationships established between female family caregivers and NH staff and help inform the decision-making process. [Journal of Gerontological Nursing, 45(6), 33-43.].

La experiencia del diagnóstico y la atención en progenitores de niños diagnosticados con el Síndrome de Phelan-McDermid: Un estudio cualitativo.

OBJETIVO: El Síndrome de Phelan-McDermid (SPMD) es una enfermedad rara, infradiagnosticada y sin cura. El propósito de este estudio fue explorar la experiencia de los progenitores con niños diagnosticados con el Síndrome de Phelan-McDermid, en relación con el proceso de diagnóstico, el tratamiento y la atención médica. MÉTODO: Se realizó un estudio cualitativo descriptivo. Los participantes fueron reclutados mediante un muestreo intencional no probabilístico. En total, se incluyeron 32 progenitores con hijos con SPMD. Se utilizaron entrevistas en profundidad y notas de campo de los investigadores. Se realizó un análisis temático inductivo. RESULTADOS: Se identificaron cinco temas: "El proceso diagnóstico", se describe el proceso diagnóstico y la forma de comunicarlo a los progenitores; "El tratamiento y sus expectativas" describe las expectativas y esperanzas construidas sobre un futuro tratamiento; "Planificación familiar", describe como los progenitores se enfrentan al consejo genético, para la planificación de tener más hijos tras el diagnóstico de SPMD; "El mundo de la discapacidad", describe la entrada de los progenitores en el entorno de la dependencia y discapacidad tras el diagnóstico; "La economía familiar", muestra las dificultades económicas debido al elevado coste de las terapias y los productos del cuidado diario. INTERPRETACIÓN: Nuestros resultados proporcionan una visión de cómo el diagnóstico y sus consecuencias son experimentados por los progenitores con niños con SPMD. Estos resultados pueden ser utilizados por los profesionales de la salud para ayudar y apoyar a los progenitores.

Experiencing the body during pregnancy: A qualitative research study among Spanish sportswomen.

The aim of the current qualitative phenomenological study was to describe the body experiences during pregnancy among Spanish elite sportswomen. Twenty Spanish sportswomen with the following criteria were included: (1) aged between 18 and 65 years; (2) had been pregnant during their professional sporting career; and (3) after the end of their pregnancy, had returned to their professional sports career for at least 1 year. A qualitative thematic analysis was conducted. Data were collected from May 2010 to April 2012 using in-depth personal interviews, investigator's field notes, and extracts from the participants' personal letters. Identified themes included: (1) a new body; (2) body control; (3) to feel their bodies and communicate with them; and (4) body's beauty ideal. Understanding the meaning of the body experience for elite Spanish sportswomen might provide us with deeper insight into their expectations and might help in the development of training systems focused on them.

Expressing sexuality in nursing homes. The experience of older women: A qualitative study.

In nursing homes, a number of barriers to the expression of sexuality exist, such as the lack of privacy, certain attitudes on behalf of the staff and the family, the lack of a sexual partner, and physical limitations. The aim of this study was to describe the lived experience of sexuality in elderly Spanish women residing in nursing homes. A qualitative phenomenological approach was followed. Data were collected over an 18-month period between 2013 and 2015. Purposeful sampling was conducted with Spanish residents in nursing homes in Madrid. Data were collected using unstructured and semi-structured interviews. The data were analyzed using thematic analysis. Twenty female residents participated. Three main themes emerged from the data: a) expressing sexuality, b) sexuality as a duty and c) respecting vows. Female residents reported key elements influencing how they manage their sexuality in Nursing Homes. These results serve to improve our understanding regarding the expression of sexuality in older female nursing home residents.

Is the experience of meaningful activities understood in nursing homes? A qualitative study.

Lack of occupation can lead to boredom, apathy, social exclusion and solitude. Occupation should incorporate meaningful activities. The aim of this study is to describe how Spanish Nursing Home residents experienced and made sense of meaningful activities. A qualitative phenomenological approach was followed. Data were collected over an 18-month period between 2012 and 2014. Purposeful sampling was conducted with Spanish residents in nursing homes in Madrid. Data were collected using unstructured and semi-structured interviews. The data were analyzed using the Giorgi proposal. Thirty-eight residents (20 female and 18 male) participated. Three main themes describing the significance of meaningful activity in nursing homes emerged from the data: Feeling the passage of time, Seeking an occupation, and Living with restrictions. Nursing homes should strive to develop diverse and meaningful activity programs for residents in order to occupy their time and provide them with a greater sense of purpose.

Bilateral deficits in fine motor control ability and manual dexterity in women with fibromyalgia syndrome.

The aim of the current study was to investigate fine motor control ability and manual dexterity women with fibromyalgia syndrome (FMS) without symptoms in the upper extremity compared to healthy women. Subtests of the Purdue Pegboard Test (one-hand, bilateral and assembly) and of the Jebsen-Taylor hand-function test (writing, turning cards, picking up small, light and large heavy objects, simulated feeding and stacking checkers) were evaluated bilaterally in 20 women with FMS (aged 35-55 years) without symptoms in the upper limb and 20 age- and hand dominance-matched healthy women. Differences between sides and groups were analysed with several analysis of variance (ANOVA). The ANOVA revealed significant differences between groups (P < 0.001) and sides (P = 0.007) for one-hand pin placement subtest: women with FMS showed bilateral worse scores than controls. Patients also exhibited significantly lower scores in bilateral pin placement and assembly subtests when compared to healthy controls (P < 0.001). The ANOVA also revealed significant differences between groups for writing, turning over cards, picking up small objects, stacking checkers, picking up large light objects and picking up large heavy objects (all, P < 0.001): women with FMS needed more time for these subtests than healthy women with both hands. No difference for simulated feeding was found between groups. Our findings revealed bilateral deficits in fine motor control ability and manual dexterity in patients with FMS without symptoms in the upper extremity. These deficits are not related to the clinical features of the symptoms supporting an underlying central mechanism of altered motor control.

Relatives experiences during the COVID-19 pandemic: A qualitative study set in Spanish locked-down nursing homes.

AIM: To describe the experience of relatives of residents with dementia residing in locked-down nursing homes during the first outbreak of the COVID-19 pandemic, concerning their relationships with nurses and the nursing care applied. METHODS: A qualitative descriptive study was carried out and purposive sampling was applied. Participants were first- and second-degree relatives of residents with dementia, who lived permanently in a nursing home and who were admitted prior to the COVID-19 pandemic. Sixteen participants, of which 10 were women (mean age 57.1 years), participated in the study. Data were collected through in-depth interviews and reflective notes, using a digital platform. An inductive thematic analysis was carried out. This study was approved by the University Research Ethics Committee and followed the COREQ guidelines. The Guba and Lincoln criteria (credibility, transferability, dependability, and confirmability) were applied for quality control. RESULTS: Families' relationships with nurses before the first wave relied on closeness and involvement in care. Families had difficulty maintaining a close relationship with nurses due to turnover and lack of time. The nursing care applied in the first wave resulted in limited family access to the nursing home, limited contact time with residents, and limited close physical contact. CONCLUSIONS: The first outbreak has affected the relationships among relatives and nurses in nursing homes. Changes should be made in the organization of care within nursing homes in order to adapt to restrictions due to the pandemic.

[Occupational balance, disability and functionality in people with rheumatic disease]. / Equilibrio ocupacional, discapacidad y funcionalidad en personas con enfermedades reumáticaS

BACKGROUND: We aimed to assess the occupational balance of people with rheumatic disease, analyze its relationship with participation, performance, and satisfaction with daily life activities, and evaluate whether age or receiving non-pharmacological treatment affects the outcome. METHODS: Cross-sectional study carried out between March and November 2021; patients with non-advanced stage of rheumatic disease from the ConArtritis Association - selected through simple random sampling -, were included. Sociodemographic data and scores from the OBQ, IMPACT-S, COPM questionnaires, and a questionnaire created ad hoc for daily life activities were collected online and/or by telephone. RESULTS: The occupational balance of the 47 participants was low (OBQ: 34.2; SD: 13.7). Despite a high participation in daily life activities (IMPACT-S: 76.8; SD: 13.1), the degree of performance and satisfaction with these activities was far from optimal (COPM-R: 3.9; SD: 2.0 and COPM-S: 4.3; SD: 2.5); 46.8% of the participants found limitations in at least four daily life activities (basic and instrumental) and 61.7% used at least one support product in their daily lives. These limitations reduced their resting time and affected their jobs, hobbies, and personal relationships. The level of performance was negatively related to age (p=0.04); No changes in the scores were found in patients who received non-pharmacological treatment. CONCLUSIONS: Our results suggest that individuals with non- advanced stage of a rheumatic disease perceive that their occupational balance may be improved should they have fewer limitations in daily life activities.

Spanish Cultural Adaptation and Inter-Rater Reliability of the Revised Knox Preschool Play Scale.

BACKGROUND: The Revised Knox Preschool Play Scale (RKPPS) is a comprehensive assessment test that observes the level of play development; however, there is no culturally adapted version available with stable psychometric values that would allow its widespread use and provide objective information during clinical evaluations. METHODS: Cross-cultural adaptation included direct and retrospective translations, along with cognitive interviews with pediatric occupational therapists to analyze the comprehensibility of the translation. In addition, a final phase of linguistic revision was carried out to determine the grammatical and semantic fit of the adapted version. Finally, inter-rater reliability was analyzed in a sample of typically developing children aged four to six years old. RESULTS: The processes of translation and back-translation, cognitive interview, and linguistic review determined an adequate grammatical and semantic equivalence to the Spanish cultural context. Almost perfect agreement, with values between 0.82 and 0.94, was obtained for items and play dimensions, indicating that the precision of the measurements between both evaluators was excellent. CONCLUSIONS: The cross-culturally adapted version of the RKPPS meets the necessary adjustments for the sociocultural context and can be used in the clinical practice of occupational therapy.

Prospective One-Year Follow-Up of Sensory Processing in Phelan-McDermid Syndrome.

BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by the loss (deletion) of a small portion of chromosome 22 in a region designated q13.3 (22q13.3 deletion). PMS is one of the most common genetic forms of autism spectrum disorder (ASD) in which sensory reactivity difficulties have been described on limited occasions. METHODS: The objective of this study is to identify whether changes in sensory reactivity skills occur after one year of follow-up in a group of 44 participants diagnosed with PMS. All participants completed the Short Sensory Profile (SSP). Two-factor ANOVA tests were performed with repeated measures for the study of the evolution of the scores. RESULTS: Participants with PMS showed significant changes after one year of follow-up in sensory reactivity skills associated with tactile hyperreactivity (p = 0.003). The rest of the study variables did not show significant differences compared to the baseline assessment, showing definite differences associated with patterns of hypo-responsiveness and sensory seeking, low/weak energy, and difficulties in auditory filtering. CONCLUSIONS: Understanding the evolution of sensory reactivity skills can facilitate the adjustment to behavioral changes in people with PMS and design-targeted interventions to address sensory reactivity challenges.

The Impact of Social Distancing Due to COVID-19 on Activities of Daily Living in Parkinson's Disease.

INTRODUCTION: To explore the impact of the lockdown and social distancing measures, applied for one year, due to the COVID-19 pandemic on Activities of Daily Living in patients with Parkinson's disease, as well as to determine the association between daily performance and tasks requiring more manipulative dexterity. METHODS: Data collection was carried out between 18 January and 22 March 2021 through telephone interviews. Patients were recruited from associations of patients with Parkinson's disease in Spain. A questionnaire was designed including items from standardized tools of the Activities of Daily Living Questionnaire to measure the level of independence and from the Dexterity Questionnaire for manipulative dexterity. RESULTS: There were 126 participants aged 36-89 years, 58% of whom were male. The results of our study reveal a significant decline in almost all the ADLs assessed. There is a moderate correlation between the degree of dependence in ADLs and the difficulty in performing activities requiring manipulative dexterity. CONCLUSIONS: Social isolation related to the COVID-19 pandemic and its consequences may have contributed to an increase in the deterioration of manipulative ability, leading to a loss of ability to perform ADLs. These results show specific needs to be considered in the rehabilitation treatment of these patients.

How Do Motor and Sensory Function Correlate with Daily Performance Recovery after Post-Stroke Robotic Intervention? A Secondary Analysis of a Non-Randomized Controlled Trial.

New technologies have been developed to complement conventional interventions to better target the specific needs of people with stroke, and they have been shown to improve both function and performance. However, it is unknown whether the baseline levels of sensorimotor function and performance interrelate with the improvement in upper limb and daily performance. Thus, the aim of this study was to examine the relationship between baseline levels of sensorimotor function and daily performance and its impact on post-intervention improvement in people with stroke following a robotic intervention. A single-blind, non-randomized, controlled clinical trial was conducted. Participants in the experimental group (n = 9) received a robotic intervention in addition to conventional treatment. Sensorimotor function was measured with Semmes-Weinstein Monofilaments® and the Fugl-Meyer Assessment Upper Extremity Scale. Upper limb and daily performance were measured with the MAL and SIS-16 scales. The multivariate regression models showed that baseline levels of upper limb performance and motor function predicted >95% of the variance in upper limb performance (p < 0.001), while pre-intervention levels of daily performance explained >75% of the post-intervention variance (p < 0.05). These findings indicate that basal upper limb motor function is associated with improved performance following a combined intervention of conventional treatment and robotic intervention.

Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder.

Introduction: The variety in symptomatology and clinical presentation of individuals diagnosed with Phelan-McDermid Syndrome (PMS) can delay medical diagnosis, so identifying specific neurobehavioral variables and facilitating differential diagnosis with patients with idiopathic Autism Spectrum Disorder (ASD) can guide early detection. Methods: A descriptive analysis of the level of adaptive behavior in 50 patients diagnosed with PMS was performed (SHANK3 deletion: N = 44; SHANK mutation : N = 6). Subsequently, a comparative analysis was performed with 28 children aged between 4 years and 6 years and 11 months (SHANK3 deletion = 14; ASD = 14). Differences between the two groups were evaluated and Bonferroni correction was applied for multiple comparisons. Results: Differences were identified in the variables of communication (z = -2.715, p = 0.007), Self-Direction (z = -2.199, p = 0.028) and social participation (z = -3.190, p = 0.001), with better adaptive behavior skills being observed in participants with a SHANK3 mutation . Better adaptive skills in the sample of participants with ASD , were found and statistically significant differences were identified in the variables of academic skills (z = -3.084, p = 0.002), use of community resources (z = -1.889, p = 0.050) and health and safety (z = -2.90, p = 0.004). Conclusion: Participants with SHANK3 mutation show better communication and social participation skills than those with a diagnosis of SHANK3 deletion. The observed differences between ASD and individuals with PMS reflect deficits in practical and conceptual adaptive skills that may limit and hinder daily adaptive functioning.

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.