Quality of Life in Children and Adolescents with Stickler Syndrome in Spain.

OBJECTIVE: To describe the quality of life and daily functioning of Spanish children and adolescents living with Stickler syndrome (SS) and to estimate the prevalence of associated disease features in a representative sample. METHODS: A cross-sectional study of children and adolescents with SS were recruited via telephone calls through the Spanish SS Association. All participants underwent a structured clinical interview and filled in questionnaires reporting their quality of life (EuroQol-5D, TSK-11, CHAQ and PedsQoL). The prevalence of the main features associated with the syndrome and the mean scores of the questionnaires were estimated with 95% confidence intervals (95% CI). RESULTS: The recruited sample included 26 persons who were mainly children (mean age 10.4 ± 4.5 (SD) range: 5-14) and male (65.4%). The prevalence estimates of SS features were as follows: the presence of moderate pain (52%), hearing loss 67% (95% CI: 54.8 to 91.3) and myopia 96% (95% CI: 87.2 to 104.4). The mean scores of the QoL indices were as follows: 22.4 (95% CI: 19.2 to 25.5) (±7.5) for TSK-11; 76.2 (95% CI: 68.8 to 83.6) (±17.1) for PedsQoL, 0.8 (95% CI: 0.7 to 0.9) (±0.3) for EQ-5D and 0.61 (95% CI: 0.24 to 1.0) (±0.9) for the cHAQ functional index. CONCLUSIONS: Our results confirmed a high variability in syndrome-related manifestations, with a large prevalence of visual and hearing deficits, pain and maxillofacial alterations. These findings may facilitate the detection of the most prevalent problems in this population, which could be a target to be addressed during the treatment of children and adolescents with SS.

Therapeutic patient education and exercise therapy in patients with cervicogenic dizziness: a prospective case series clinical study.

The purpose of this study was to evaluate the effectiveness of a treatment for patients with cervicogenic dizziness that consisted of therapeutic education and exercises. The Dizziness Handicap Inventory and Neck Disability Index were used. Secondary outcomes included range of motion, postural control, and psychological variables. Seven patients (two males and five females) aged 38.43±14.10 with cervicogenic dizziness were included. All the participants received eight treatment sessions. The treatment was performed twice a week during a four weeks period. Outcome measures included a questionnaire (demographic data, body chart, and questions about pain) and self-reported disability, pain, and psychological variables. Subjects were examined for cervical range of motion and postural control. All of these variables were assessed pre- and postintervention. Participants received eight sessions of therapeutic education patient and therapeutic exercise. The majority of participants showed an improvement in catastrophism (mean change, 11.57±7.13; 95% confidence interval [CI], 4.96-18.17; d=1.60), neck disability (mean change, 5.14±2.27.28; 95% CI, 3.04-7.24; d=1.32), and dizziness disability (mean change, 9.71±6.96; 95% CI, 3.26-16.15; d=1.01). Patients also showed improved range of motion in the right and left side. Therapeutic patient education in combination with therapeutic exercise was an effective treatment. Future research should investigate the efficacy of therapeutic patient education and exercise with larger sample sizes of patients with cervicogenic dizziness.

Physical therapy management of infants and children with hypophosphatasia.

Hypophosphatasia (HPP) is a rare inborn error of metabolism resulting in undermineralization of bone and subsequent skeletal abnormalities. The natural history of HPP is characterized by rickets and osteomalacia, increased propensity for bone fracture, early loss of teeth in childhood, and muscle weakness. There is a wide heterogeneity in disease presentation, and the functional impact of the disease can vary from perinatal death to gait abnormalities. Recent clinical trials of enzyme replacement therapy have begun to offer an opportunity for improvement in survival and function. The role of physical therapy in the treatment of the underlying musculoskeletal dysfunction in HPP is underrecognized. It is important for physical therapists to understand the disease characteristics of the natural history of a rare disease like HPP and how the impairment and activity limitations may change in response to medical interventions. An understanding of when and how to intervene is also important in order to optimally impact body function, lessen structural impairment, and facilitate increased functional independence in mobility and activities of daily living. Individualizing treatment to the child's needs, medical fragility, and setting (home/school/hospital), while educating parents, caregivers, and school staff regarding approved activities and therapy frequency, may improve function and development in children with HPP.

Metabolic, cardiorespiratory, and neuromuscular fitness performance in children with cerebral palsy: A comparison with healthy youth.

The aim of this study was to assess metabolic, cardiorespiratory, and neuromuscular fitness parameters in children with spastic cerebral palsy (CP) and to compare these findings with typically developing children. 40 children with CP (21 males, 19 females; mean age, 11.0±3.3 yr; range, 6.5-17.1 yr; Gross Motor Function Classification System levels 1 or 2) and 40 healthy, age- and sex-matched children completed a test battery that consisted of 8 tests and 28 measures that assessed cardio-respiratory fitness, energy expenditure, anaerobic endurance, muscle strength, agility, stability and flexibility. Children with CP had significantly lower performance (P<0.05) on most cardiorespiratory and metabolic tests than those of healthy children, Differences in neuromuscular measures of muscular strength, speed, agility, anaerobic endurance, and flexibility between groups were most apparent. Grouped differences in cardiorespiratory variables revealed a 25% difference in performance, whereas grouped differences in metabolic and neuromuscular measures were 43% and 60%, respectively. The physical fitness of contemporary children with CP is significantly less than healthy, age-matched children. Significant differences in neuromuscular measures between groups can aid in the identification of specific fitness abilities in need of improvement in this population.