Functional Independence of Pediatric Patients With Mucopolysaccharidoses

Abstract

Objective: To measure the functional independence to perform activities of daily living of pediatric patients diagnosed with mucopolysaccharidoses. Methods: A descriptive cross-sectional study was carried out with the population of pediatric patients with a confirmed enzymatic diagnosis of mucopolysaccharidoses, enrolled in the Orthopedics outpatient clinic of a hospital in the State of Bahia. The data were collected between October 2016 and March 2017, based on the documentary analysis of the assessment forms used in the department. The variables of this study comprised sex, age, type of MPS and level of functional independence, measured by the Functional Independence Measure scale. Results: Twenty-six patients participated in the study. These were predominantly male (61.5%), with a mean age of 10 ± 4.5 years, affected by MPS VI (73.1%). In the motor domain, the mean score was 65 (± 19.9 points); the cognitive domain obtained a mean score equal to 28 (± 8.2 points); and the total FIM score was 93 (± 26.5). Conclusion: Impaired functional independence was observed among children and adolescents with mucopolysaccharidoses. Tasks related to dressing, toileting, bathing, problem solving and social interaction were those that required the most assistance and/or supervision. Level of Evidence IV, Case Series.

Mucopolysaccharidoses: Psychosocial Vulnerability of Family Caregiver

“…The impact on caregivers divided into two aspects remains an objective overload, which is due to the effort involved in the performance of care tasks, with the economic demands and social restrictions derived from them; and the subjective one, which refers to the dimension of the feelings and emotions caused by the care work. 6,16,21,17,3 The woman stands out as a primary caregiver being the most prevalent female sex in the country (96.4%), which correlates with the literature 2 since women are the most dedicated to the work of caring for patients with lysosomal storage disorders such as MPS, rare, chronic or debilitating diseases. These female caregivers are characterized by belonging to a low socioeconomic stratum (79%), just 38,5% finished secondary and 15,6% being professionals located in rural areas (68.5%) 19 with ages between 30 and 49 years.…”

“…These female caregivers are characterized by belonging to a low socioeconomic stratum (79%), just 38,5% finished secondary and 15,6% being professionals located in rural areas (68.5%) 19 with ages between 30 and 49 years. Moreover, most of them work full time as caregivers (79.1%) and in relation to economic solvency, 16,27 they depend on their sentimental partner, mostly men, performing a double role, mothers and caregivers. In terms of psychosocial vulnerability factors and impact on health, the attitude towards the disease depends not only on the diagnosis, it depends on the prognosis that varies according to the type of MPS, because the signs and symptoms are not the same in each of them.…”

“…This impact on caregivers can be divided into two aspects: an objective overload, which is due to the effort involved in the performance of care tasks, with the economic demands and social restrictions derived from them; and a subjective one, which refers to the dimension of the feelings and emotions caused by the care work. 16 Medical social workers have a long history of providing psychosocial support for physical and mental health problems to patients with chronic or debilitating diseases. 17,18 They are capable of building relationships and providing in multidisciplinary teams.…”

“…They are called hidden or unknown patients and are characterized by not attending medical services, delaying their health care. 17,16 The majority of caregivers are family members and within the symptoms that the caregiver may present, there are manifestations of stress, psychological state of overload, stress or discomfort caused by the continuous provision of care for the family member, feelings and negative perceptions regarding their caring function. This investigation contributes in Colombia to develop more efforts between academic and health institutions in order to create a baseline for neuropsychological assessment, diagnosis and intervention processes with orphan and lysosomal storage diseases, that improve the QoL of caregivers and their families, thus reducing the different impact factors of illness and caregiver work.…”

Projeto Dança Em Cadeira De Rodas E Mobilidade De Crianças E Adolescentes Com Deficiência Física: Série De Casos

“…O PEDI, apresenta boas propriedades psicométricas, além de ser padronizado e utilizar de relatos de pais e cuidadores por meio de uma entrevista estruturada 15 . Já as escalas WeeFIM e MIF, aplicada em crianças acima de 7 anos, são métodos extremamente utilizados para a avaliação funcional pediátrica, o que inclui a mobilidade, e têm demonstrado confiabilidade e validade, para crianças com e sem deficiência 16,17 . Para Lin et al 18 , a escala WeeFIM apresenta um sistema bastante versátil, adequando-se a uma grande variedade de pacientes e diagnósticos.…”