Background: Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options. Currently, the indication and plan are overlooked, nonspecific and reported only for one patient. Methods: We describe a case series of MCTO patients diagnosed and followed by a centre to identify functional deficit as a potential clinical marker of disease progression for future etiological therapies. In addition, we define a symptomatic treatment approach and specific clinical management, including a patient-centred rehabilitation approach. Functional assessments are performed independently by a multidisciplinary group to establish the functional abilities of patients and the relationship between residual motor skills and their degree of autonomy and participation. We suggest a way to identify a rehabilitation plan based on a specific disease using the International Classification of Functioning, Disability and Health Children and Youth (ICF-CY). Results: To define a reliable and reproducible “Function Profile”, through age and over time, we used to value the disease status according to the ICF-CY domains. It could be used to determine the complexity of the illness, its overall impact on the complexity of the person and the burden on the caregiver, and an eventual short- and long-term rehabilitation plan for MCTO and other ultra-rare diseases. Conclusion: Based on the MCTO experience, we suggest a way to determine a rehabilitation plan based on a specific disease and patient needs, keeping in mind that often the final point is not recovering the full function but improving or maintaining the starting point. In all cases, each patient at the time of diagnosis requires a functional assessment that must be repeated over time to adjust the course of rehabilitation. The evaluations revealed the importance of early rehabilitation management in enhancing independence, participation and control of stress deconditioning, shrinking of muscle tendons and loss of movement to immobility.

Objective: This study aims to compare the long-term results of continuous intrathecal baclofen therapy rehabilitation against those of conventional treatment for intractable spasticity in children with cerebral palsy using the International Classification of Functioning, Disability and Health of Children and Youth. Design: This is a 5-yr single-center retrospective cohort study. Results: The International Classification of Functioning, Disability and Health of Children and Youth data from 24 patients with cerebral palsy of Gross Motor Function Classification System levels IV–V (aged between 8 and 18 yrs) were retrospectively analyzed for 5 yrs. The results show different trends between the 12 patients who received continuous intrathecal baclofen therapy and the 12 who were excluded because of contraindications. The continuous intrathecal baclofen therapy group improved spasticity, pain, and body mass index z-scores over 12 mos and during the 5-yr follow-up with a continuous simple Baclofen administration at a maximum of 140 μg/d at a concentration of 2000 μg/mL. Conclusions: Continuous intrathecal baclofen therapy improves structure and function, autonomy, and participation in both short and long term. Overall, the continuous intrathecal baclofen therapy group, with its characteristics of initially greater pain and hypertonia, benefited significantly from the efficacy of intrathecal Baclofen treatment compared with the control group, which continued to receive conventional treatment. The International Classification of Functioning, Disability and Health of Children and Youth outcome measures demonstrated an interrelationship between spasticity and weakness and disease progression over childhood to adolescence. Follow-up will be vital for effective personalized treatment, quality of life, and research. Long-term International Classification of Functioning, Disability and Health of Children and Youth data collection is key to comparing treatment outcomes.

Background/Objectives: To determine whether a sitting position with the femoral heads centered into the acetabulum is more effective than the usual sitting position in preventing migration percentage progression in non-ambulatory children with bilateral cerebral palsy. Methods: This was a multicenter, randomized controlled trial. Inclusion criteria: spastic or dyskinetic cerebral palsy, Gross Motor Function Classification System level IV-V, age 1–6 years, migration percentage <41%, and informed consent. Exclusion criteria: contractures affecting the hip, anterior luxation, previous hip surgery, and lumbar scoliosis. The treatment group sat with their hips significantly abducted to reduce the head into the acetabulum in a customized system for at least five hours/day for two years. Controls sat with the pelvis and lower limbs aligned but the hips less abducted in an adaptive seating system. The primary outcome was migration percentage (MP) progression. Health-related quality of life and family satisfaction were among the secondary outcomes. The study was approved by the local ethics board and conducted in accordance with CONSORT reporting guidelines. ClinicalTrials.gov ID: NCT04603625. Results: Overall median MP progression was 1.6 after the first year and 2.5 after the second year. No significant differences were observed between the groups. MP exceeded 40% and 50% in 1.8% and 0% of the experimental group and 5.4% and 3.6% of controls in years 1 and 2, respectively. Both groups expressed satisfaction with the postural system and stable health-related quality of life. Conclusions: MP remained stable over the two-year period in both groups. Considering outliers which progressed over 50%, a more protective trend of the hip-centering sitting approach emerged, but this needs to be confirmed in a final, larger dataset.

"Letter to the Editor. Intrathecal baclofen pump insertion versus selective dorsal rhizotomy" published on 30 Sep 2022 by American Association of Neurological Surgeons.

Objective: Patients with juvenile fibromyalgia syndrome (JFS) often report gastrointestinal (GI) symptoms. Disorders of gut-brain interaction (DGBI) are common in adult fibromyalgia, but data in JFS are limited. We evaluated the prevalence and clinical impact of DGBI in JFS and explored their association with disease severity. Methods: This observational study included patients with JFS followed at the Gaslini Institute between March 2024 and October 2025. At each visit, the Widespread Pain Index (WPI) and JFS-related symptoms (fatigue, headache, morning tiredness, and neuropsychiatric features) were assessed using self-reported measures. Patients completed a questionnaire for GI symptoms at each visit, and DGBI diagnoses were established by a pediatric gastroenterologist according to the Rome IV criteria. Results: Sixty-three patients (55 female, 87%; mean age at enrollment 16.9 [SD 2.6] years) were included, and 219 questionnaires were collected. Forty-eight patients (76%) had ≥ 1 DGBI, which included functional dyspepsia (63%), irritable bowel syndrome (38%), and functional constipation (15%). Thirty-eight percent of patients with JFS reported limitations in daily activities due to GI symptoms. BMI (kg/m ² ) was significantly lower in patients with DGBI (BMI Z -score 0.0 [IQR −0.6 to 1.8] vs 2.1 [IQR 0.7 to 3.3]; P = 0.01). In multivariate analysis, a higher WPI was independently associated with DGBI (odds ratio 1.19, 95% CI 1.03-1.37; P = 0.02). Conclusion: DGBI are very common in JFS and may significantly affect patients' functional capacity. Their presence is associated with more severe and widespread musculoskeletal pain, underscoring the importance of a multidisciplinary approach in the management of JFS.