Clinical evaluation of muscle functions in neurofibromatosis type 1.

AIM: Muscle weakness, fatigue and speech problems can occur in neurofibromatosis type 1 (NF1). The pathogenesis of these symptoms is unclear, likely multifactorial. We examined motor function in limb and speech muscles in NF1 patients. METHODS: We evaluated NF1 and control groups aged 4-18 years for muscle strength, tone and mobility using standard manual testing, joint motion and Beighton score measurements. Speech and language functions were assessed by speech articulation and resonance. As a marker of muscle tissue turnover, we determined collagen degradation products in urine before and after submaximal exercise. RESULTS: NF1 patients had reduced strength in proximal limb muscles compared to control subjects. Speech articulation problems and hypernasality were more common in NF1 (47% and 38%, respectively). Collagen products excreted in urine correlated with gluteal and biceps muscle strength. CONCLUSION: Muscle dysfunction can be detected in some children with NF1 and may explain certain clinical features including fatigue, speech and articulation problems. If confirmed by further research, these findings may be relevant to the management of this condition.

The validity and reliability of the Turkish version of the Fear of Pain Questionnaire for Children-Short Form (FOPQC-SF) in children and adolescents with juvenile idiopathic arthritis.

OBJECTIVE: The aim of this study was to investigate the validity and reliability of the Turkish version of the Fear of Pain Questionnaire for Children-Short Form (FOPQC-SF) in children/adolescents with juvenile idiopathic arthritis (JIA). METHODS: To evaluate validity of FOPQC-SF, 70 children/adolescents with JIA were included. Data were collected using Pediatric Quality Of Life Inventory 3.0. Module Arthritis (PedsQL), Childhood Health Assessment Questionnaire (CHAQ) and Juvenile Arthritis Disease Activity Score (JADAS).To determine the reliability of the FOPQC-SF, test-retest was performed at one-week intervals on participants who had not made any changes to their pharmacological treatment and had not received any additional treatment. RESULTS: With factor restrictions, items of Turkish version of FOPQC-SF were found acceptable for a 2-factor structure (fear:4 items; avoidance:6 items)(RMSEA = 0.058, GFI = 0.890, X2 = 40.667 X2/df = 1.196). With no restrictions, items of Turkish version of FOPQC-SF were found to be excellent for a 3-factor structure (fear:3 items; avoidance:4 items; other:3 items) (RMSEA = 0.036, GFI = 0.909, X2 = 34.465, X2/df = 1.077).The Cronbach's alpha value of Turkish version of FOPQC-SF total was 0.865 (good). The intraclass correlation coefficient (ICC2,1) was 0.865 (very high). Fear and avoidance subscales and total score of Turkish version of FOPQC-SF had low to moderate correlation with CHAQ-disability index, CHAQ-pain, CHAQ-global evaluation, JADAS, PedsQL-child total, PedsQL-parent total (r:-0.283/-0.452)(p < 0.05). Other subscale of Turkish version of FOPQC-SF had low to moderate correlation with CHAQ-disability index, CHAQ-pain, PedsQL-parent total (r:0.286/0.318) (p < 0.05). CONCLUSION: The Turkish version of FOPQC-SF was found to be clinically valid and reliable in children and adolescents with JIA.

Evaluation of daily and social participation of children with Cerebral Palsy across different age groups with a focus on the 'F'-words: Function, family, fitness, fun, friends and future.

BACKGROUND: The impact of disability differs across cultures. This study aimed to determine the predictors of participation in children with cerebral palsy (CP) in Turkey, based on the six F-words. METHODS: Cross-sectional study exploring participation profiles of 450 children with CP, aged between 2 and 18 years. Pediatric Evaluation of Disability Inventory (PEDI) evaluated functional skills, and Assessment of Life Habits (LIFE-H) version 3.0 assessed daily and social participation. Hierarchical linear regression models were done to determine the predictors of participation in daily activities (PDA) and social roles (PSR) in three age groups (2-4, 5-13 and 14-18 years) based on the 6 F-words (mobility of PEDI for 'fitness'; four classification systems and self-care of PEDI for 'functioning'; social functions of PEDI for 'friends'; demographic information by parents for 'family'; the recreation of LIFE-H for 'fun'; and different stages of development for 'future'). RESULTS: The most important predictors for total PDA by age group were: self-care (p = 0.012) of PEDI in 2-4 y; self-care (p = 0.001) and mobility (p = 0.005) of PEDI in 5-13 y; GMFCS (p = 0.006) and mobility (p = 0.002) of PEDI in 14-18 y. Significant predictors for PSR differed by age group: self-care (p = 0.001) of PEDI in 2-4 y; self-care (p = 0.023) and mobility (p = 0.006) of PEDI in 5-13 y; and GMFCS (p = 0.004) and MACS (p = 0.003) in 14-18 y. CONCLUSIONS: Six F-words of function and fitness focussed on self-care in younger children with an increasing emphasis on mobility and ability levels according to age. Therefore, rehabilitation for different aspects of the functional levels is needed to improve participation in life across the six F-words framework; plus take into consideration context, age-differences, family's expectations, life requirements, environmental needs, and cultural differences.

Construct-concurrent validity and reliability of the European Child Environment Questionnaire (ECEQ) in a sample of Turkish children with cerebral palsy.

PURPOSE: To investigate the construct-concurrent validity and reliability of the Turkish version of the European Child Environment Questionnaire (ECEQ-T) in children with cerebral palsy (CP). METHODS: Mean age 9.53 ± 4.45 years 306 children with CP and their parents participated in the study. While construct validity was assessed using confirmatory factor analysis, concurrent validity was investigated using the correlation between ECEQ-T and Pediatric Evaluation of Disability Inventory (PEDI) with Spearman's correlation analysis. For test-retest reliability, ECEQ-T was administered twice to 65 parents with an interval of two weeks. Cronbach's alpha (α) and Intraclass Correlation Coefficient (ICC) were used for reliability. RESULTS: Construct validity (RMSEA > 0.080; GFI ≥ 0.90) and concurrent validity (r: -0.533 to -0.293; p < 0.05) were confirmed as acceptable. Eight items were dropped out as they did not fit the model and finally ECEQ-T contains 54 items in three domains. High Cronbach's α and ICC values were found (Cronbach αPE: 0.960/ICCPE: 0.959, Cronbach αSS: 0.955/ICCSS: 0.954), Cronbach αA: 0.822/ICCA: 0.802, Cronbach αT: 0.957/ICCT: 0.955). CONCLUSION: ECEQ-T has demonstrated good psychometric properties and can be used as a reliable and valid measure to assess environmental factors. We believe that ECEQ-T is a useful and detailed questionnaire to determine barriers-facilitators for increasing activity and participation in Turkish children with CP.IMPLICATIONS FOR REHABILITATIONThe Turkish version of ECEQ has acceptable construct validity and moderate concurrent validity for evaluating environmental factors in children with cerebral palsy.The Turkish version of ECEQ provides valuable information, which could be helpful to guide public health services and government policies in order to optimize the participation of children with CP.Environmental factors may play an important role in activity and participation in children with cerebral palsy. Turkish version of the ECEQ can be used for evaluating the environmental factors to determine barriers of activity and participation.

Relationship among four functional classification systems and parent interpredicted intelligence level in children with different clinical types of cerebral palsy.

OBJECTIVE: To investigate the relationships between four functional classification systems in children with cerebral palsy (CP) and parent-interpredicted intelligence level, and the functional status in clinical types of CP. METHODS: Two hundred and twenty-five children with CP ages between 2 and 18 (mean age 6.5 ± 4.4) years included using the Surveillance of CP in Europe (SCPE) database in Turkey. Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Communication Function Classification System (CFCS) and Eating and Drinking Classification System (EDACS) levels were classified by clinical observation, and intelligence quotient (IQ) was determined by parent reports. RESULTS: Correlations were found between all functional levels; the strongest were between GMFCS-MACS (r = 0.784, p < .001), CFCS-EDACS (r = 0.772, p < .001). Strong correlations were found for the IQ-CFCS (r = 0.762, p < .001) and IQ-EDACS (r = 0.634, p < .001). Correlations were stronger in children with bilateral CP and IQ level <70. CONCLUSIONS: Taken together, these four classification systems and reported IQ levels can adequately describe overall functioning for children with CP. Our results can guide clinicians in the rehabilitation of children with CP.

The effects of fatigue, gross motor function, and gender on participation in life situations of school-aged children with cerebral palsy: A parental perspective.

OBJECTIVE: To investigate the effects of fatigue, gross motor function, and gender on participation in life situations of school-aged children with cerebral palsy (CP) from a parental perspective. METHODS: The study included 209 children with CP aged between 5 and 13 years (mean age, 8.06 ± 2.41 years; girls, 45.5%) and their parents. Fatigue, gross motor function, and participation status were evaluated with the Pediatric Quality of Life (PedsQL), Gross Motor Function Classification System (GMFCS), and the Assessment of Life Habits (Life-H) questionnaire, respectively. The effects of fatigue, gross motor function, and gender on participation were investigated with linear regression analysis. RESULTS: According to parental reports, 79.9% of the children had fatigue. Children in all GMFCS levels experienced fatigue. Fatigue and GMFCS levels were dependent variables, and therefore only simple linear regression analyses were performed. Fatigue explained 38-43% of the variances in daily activities, social roles, and total Life-H scores, while gross motor function explained 48-65% of the variances in scores (p < 0.001). Gender had no effect on participation scores (p > 0.05). CONCLUSION: More than two thirds of the school-aged children with CP had fatigue. Fatigue and poor gross motor function had a negative effect on participation in daily activities and social roles.