Search

BACKGROUND: Ataxia is a clinical syndrome characterized by coordination problems and postural disorders. OBJECTIVE: This study aimed to examine the effects of functional trunk training on trunk control and upper limb functions in autosomal recessive hereditary ataxia. METHODS: Twenty patients were randomly divided into treatment and control groups. Both groups received trunk stabilization and balance exercises, and the treatment group received additional functional trunk training sessions (3 days/week for 8 weeks). The International Cooperative Ataxia Rating Scale, Trunk Impairment Scale, Modified Functional Reach Test, Nine-Hole Peg Test and Quick-Disabilities of the Arm Shoulder and Hand questionnaire were used for assessments. RESULTS: The treatment group showed an increase in the upper limb performance bilaterally, whereas increased performance was seen only in the dominant upper limb in the control group. While the functional reach improved in the anterior-posterior (AP) and medial-lateral (ML) directions in the treatment group, it was improved only in the AP direction in the control group. Also, the mean changes in outcomes were not significantly different between the groups except for modified functional reach test. CONCLUSIONS: Functional trunk training may be a more effective method to improve upper limb performance and dynamic trunk balance in autosomal recessive hereditary ataxia.

Purpose: This case report investigated the effectiveness of an individualized physical therapy program in CALFAN syndrome. Case Description: A 13-year-old girl participated in physical therapy, which included trunk stabilization, balance training, and functional exercises for 12 weeks. Assessments: The International Cooperative Ataxia Rating Scale; Trunk Impairment Scale; Pediatric Quality of Life Inventory; Functional Independence Measure for Children; Quick Disability of the Arm, Shoulder, and Hand Questionnaire; 9-Hole Peg Test; and Cobb measurement were used as outcome measures. Results: Positive changes were observed in the International Cooperative Ataxia Rating Scale; Quick Disability of the Arm, Shoulder, and Hand Questionnaire; Pediatric Quality of Life Inventory; Trunk Impairment Scale; Functional Independence Measure; and the 9-Hole Peg Test. The Cobb angle was increased by 2° in the thoracic region and reduced by 11° in the lumbar region. Conclusions: Physical therapy improved quality of life, functional independence, trunk control, and upper extremity performance. What This Adds to Evidence: This case report is the first to support the effectiveness of physical therapy for a child with CALFAN syndrome. © 2022 Lippincott Williams and Wilkins. All rights reserved.

The mucopolysaccharidosis (MPS) can lead to poor endurance and mobility, often associated with pain, restricted range of motion (ROM), low energy levels and fatigue, negatively affecting quality of life and activities of daily living. This study aimed to examine the impact of enzyme replacement therapy (ERT) on aerobic capacity, functional independence and quality of life in children with MPS and to determine the anxiety and depression levels of their caregivers. Study Design established in Cross sectional study. Twelve children aged 3 to 11 years were included in the study. The subjects were divided into two groups according to the use of ERT. Quality of life and functional independence were assessed using the Pediatric Quality of Life Inventory (PedsQL) and Functional Independence Measure for Children (WeeFIM). The 6-minute walk test (6MWT) and timed up and go test (TUG) were used to evaluate aerobic capacity. Anxiety and depression levels of parents were assessed using the Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI), respectively. A total of 12 MPS patients 7 boys (58.3%) and 5 girls (41.7%) with a mean age of 5.58±2.67 years were included in the study.1 patient had MPS type I, 2 patients had MPS type III, 5 patients had MPS type IV, and 4 patients had MPS type VI. Six patients were receiving ERT. The children had a mean 6MWT score of 330.83±114.29, a mean TUG score of 14.24±5.71 sec, a mean PedsQL score of 46.83±14.03 and a mean WeeFIM score of 70.83±26.85. Their caregivers had a mean BAI score of 19.25±10.95 and a mean BDI score of 19.41±6.81. A significant difference was found between the children receiving ERT and those not receiving in the WeeFIM scores (P0.05). ERT did not change aerobic capacity and quality of children with MPS but increased their level of functional independence. Multisystem involvement in MPS children may affect anxiety and depression levels of their caregivers but ERT does not seem to have any effect on this psychosocial aspect.