(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.

Subjects with carpal tunnel syndrome (CTS) typically describe self-perceived pinch grip deficits, clumsiness sensations and difficulty with grasping small objects, which suggest the existence of a fine motor control deficit. No previous studies have investigated fine motor control and pinch grip force bilaterally in patients diagnosed with moderate CTS. Our aim was to investigate differences in fine motor control ability and pinch grip force between patients with unilateral CTS and healthy controls. Subtests of the Purdue Pegboard Test (one-hand, bilateral and assembly) and pinch grip force were evaluated bilaterally in 20 women with unilateral CTS (aged 22-66 years), and 20 age and hand dominance-matched healthy women. Differences between sides (affected/unaffected or dominant/non-dominant) and groups (patients or controls) were analysed with an analysis of variance (ANOVA). The ANOVA found significant differences between both groups (F = 65.7; P < 0.001) and between sides (F = 5.4; P = 0.02) for the one-hand pin placement subtest: CTS patients showed bilateral worse scores on one-hand pin placement than controls (P < 0.001). Patients also showed 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 (F = 141.2; P < 0.001), and fingers (F = 142.2; P < 0.001), but not between sides (F = 0.9; P = 0.4) for pinch grip strength: CTS patients showed bilateral lower pinch grip force levels in all fingers when compared to controls (P < 0.001). Fine motor control and pinch grip were negatively related to the hand pain intensity and duration of symptoms history (all, P < 0.01). Our findings revealed bilateral deficits in fine motor control ability and pinch grip force in patients with unilateral moderate CTS when compared to controls.

ObjectivesOur aims were (1) to compare the sensory organisation of balance control and balance strategies between women with fibromyalgia (FM) and healthy women; (2) to investigate which sensory component, that is, vestibular, visual or somato-sensory, is the most affected in FM and (3) to determine the associations between the functional independence measure (FIM) and balance responses in FM.DesignCross-sectional observational study.SettingUrban regional hospital and university (Universidad Rey Juan Carlos, Madrid, Spain).ParticipantsTwenty women with FM and 20 matched healthy women.Primary/secondary outcome measuresThe sensory organisation test (SOT) was used to determine postural sway and balance during six different conditions with subjects in a standing position. The FIM was used to determine the level of functional independence in daily life activities (ADL). Between-group differences were analysed with analysis of covariance, and the Spearman's test was used for correlations.ResultsSignificant differences between-groups and between-conditions were found for all SOT conditions (all, p<0.001): women with FM showed lower scores being the vestibular score the most affected. Different correlations between SOT conditions and some specific ADL were observed in the FM group: bathing activity and balance condition 6 (rs=0.541; p<0.001), bed transfers activity and conditions 2 (rs=0.491; p<0.001) and 3 (rs=0.510; p<0.001), positioning strategy six and dressing the upper (rs=0.530; p<0.001) or lower (rs=0.562; p<0.001) body, and toileting (rs=0.521; p<0.001): the greater the loss of balance, the greater the interference on some daily life activities.ConclusionsWomen with FM exhibited balance deficiencies and used different strategies for maintaining their balance in standing, which was associated with a negative impact on functional independence.

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.

(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.