Related Experiment Video
Updated: Jan 20, 2026
Whole-body PET/MRI of Pediatric Patients: The Details That Matter
Published on: December 19, 2017
FUNCTIONAL INDEPENDENCE OF PEDIATRIC PATIENTS WITH MUCOPOLYSACCHARIDOSES
Paloma Silva Lopes1, Diógenes Pires Serra1, Marcos Antônio Almeida Matos1,2
1Escola Bahiana de Medicina e Saúde Pública (EBMSP), Salvador, BA, Brazil.
Insights
Pediatric patients with mucopolysaccharidoses (MPS) show impaired functional independence in daily activities. Assistance is most needed for tasks like dressing, toileting, bathing, problem-solving, and social interaction.
Area of Science:
- Pediatric Orthopedics
- Rare Diseases
- Functional Independence Assessment
Background:
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
- These conditions often lead to significant physical and cognitive impairments.
- Assessing functional independence is crucial for managing pediatric patients with MPS.
Purpose of the Study:
- To evaluate the level of functional independence in performing activities of daily living (ADLs) among pediatric patients diagnosed with mucopolysaccharidoses.
- To identify specific ADLs that pose the greatest challenges for children and adolescents with MPS.
Main Methods:
- A descriptive cross-sectional study was conducted.
- Data were collected from 26 pediatric patients with confirmed MPS diagnoses.
- Functional Independence Measure (FIM) scale was used to assess motor and cognitive domains.
Main Results:
- The study included predominantly male patients (61.5%) with a mean age of 10 ± 4.5 years.
- MPS VI was the most prevalent type (73.1%).
- Mean FIM scores were 65 (motor), 28 (cognitive), and 93 (total).
Conclusions:
- Children and adolescents with MPS exhibit significantly impaired functional independence.
- Assistance and supervision are most required for dressing, toileting, bathing, problem-solving, and social interaction.
- These findings highlight the need for targeted interventions to improve ADLs in this population.
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.
Related Concept Videos
01:26Pharmacokinetics in Pediatric Patients: Drug Excretion
01:17Pharmacokinetics in Pediatric Patients: Drug Distribution
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
01:21Introduction to Test of Independence
The test statistic for a test of independence is similar to that of a goodness-of-fit test:
01:16Hypothesis Test for Test of Independence
H0: The two variables (factors)...