Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.

PURPOSE: Caudal regression syndrome (CRS) is a rare congenital abnormality including orthopedic deformities, urological, anorectal, and cardiac malformations. The clinical spectrum of CRS varies in severity, therefore multiple surgeries and complex medical care may be required with the efforts and support of a multidisciplinary team to ensure the most accurate treatment and the best outcome. The aim of our retrospective study was to evaluate the role of a multidisciplinary treatment and the long-term outcome in patients with severe CRS. METHODS: Clinical, surgical and psychological data were collected for all patients with diagnosis of CRS, treated at our Pediatric Hospital from January 1995 to December 2020. Patients with a severe form of CRS according to Pang's classification were included in the study. All patients have been followed by a multidisciplinary team composed by urologists, neurosurgeons, neonatal and digestive surgeons, orthopedic surgeon, physiatrists and psychologists. On admission, patients were screened for CRS with sacrum, spine and legs X-ray, spine MRI, renal ultrasound, voiding cystography and urodynamic, and renography. Clinical data about bowel function were evaluated. RESULTS: During the study period, 55 patients with CRS were treated at our Institution. Six out of 55 (10.9%), presented with severe form of CRS (5 pts with type 1; 1 pt, with type 2) and represent our study group. Diagnosis of severe CRS was made at birth because of the typical deformities of the pelvis (fusion of the iliac wings), and of the lower extremities (undeveloped legs with flexion of the knees, clubfoot). All patients presented with neurogenic bladder, 4/6 (66.6%) with vesicoureteral reflux (VUR) and 2/6 (33.3%) with renal agenesia and contralateral ectopic hypoplastic kidney. Bowel symptoms occurred in 5/6 pts (83.3%). All patients were started with an earlier clean intermittent catheterization (CIC) regimen. In 3 patients oxybutynin has been effective or well tolerated, while in other 3 onabotulinumtoxin A has been used. Vesicoureteral reimplantation has been performed in 1 patient, 2 required endoscopic treatment of VUR. On long-term, 2 patients required bladder augmentation with ileum and appendicostomy (Mitrofanoff). Low adherences in CIC have been observed in three patients, mainly at puberty. Two patients presented with chronic renal failure. One patient reported suicide proposal. Regarding social life, only one is regularly performing sport activity. CONCLUSION: CRS is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. Management of CRS includes a wide variety of interventions to address the full spectrum of possible anatomical abnormalities. Hence, a multidisciplinary team is also mandatory for a correct bladder and bowel management, in order to maintain continence and preserve renal function, improve quality of life and increase self-esteem.

Efficacy of adaptive seating system for the management of neuromuscular scoliosis in a young adult with cerebral cavernous malformation: A case report.

Cerebral cavernous malformations (CCMs) are vascular malformations causing seizures and cerebral hemorrhages. Neurological and functional profile can differ from each individual, and the management requires high complexity. The aim of the present case report was to explore the management of neuromuscular scoliosis in a young adult with CCM, comparing the use of a scoliotic brace with a customized adaptive seating system (AdSS). X-ray examinations were performed in three different situations: sitting in a flat bench without postural support, sitting in a flat bench with scoliotic brace, and sitting in an AdSS. For the analysis of the AdSS, an experimental radiolucent device was used. Differences in spine alignment and postural support were found. The best option to care was the use of the scoliotic brace. Nevertheless, the use of a customized AdSS offers a good solution for the management of neuromuscular scoliosis, with a difference of 10 degrees with respect to the scoliotic brace. Position was maintained at 3-month follow-up, with a reduction of the overhang of the spine. The use of an AdSS represents a valid attempt for the management of neuromuscular scoliosis in people with CCM. This approach can be considered when the patient suffers the scoliotic brace and/or when the brace interferes with breathing or other clinical conditions.

An Italian Validation of ABILHAND-Kids for Children With Cerebral Palsy.

Limitations in hand function are common among children with cerebral palsy (CP), with almost 50% presenting an arm-hand dysfunction. However, there is no standardized assessment tool available in Italian for evaluating bimanual performance for this population. Our objective in this study was to evaluate the psychometric properties of an Italian translation of the ABILHAND-Kids (ABILHAND-Kids-IT) among children with CP. We examined internal consistency using Cronbach's Alpha and Omega coefficients, and we investigated test-retest reliability with intraclass correlation coefficients (ICC). We performed explorative factor analysis (EFA) to investigate structural validity. We calculated Pearson's correlation coefficients between the ABILAND-Kids IT and the Manual Ability Classification System (MACS) to assess criterion validity; and, to demonstrate the score variability of the ABILHAND-Kids-IT, we used analyses of variance (ANOVAs) to compare the 181 children with CP in this sample with their levels on the MACS. We enrolled 181 children with CP in the study. EFA confirmed a uni-dimensional scale. We obtained internal consistency on both Cronbach's Alpha and Omega coefficient of 0.98, and a one-week test-retest reliability analysis revealed an ICC with 95% of confidence interval of .992. The ANOVA revealed significant score variability (p < 0.01) and the Pearson correlation coefficient comparing the ABILHAND-Kids-It score with the MACS was -0.929 (p < 0.01). We conclude that the ABILHAND-Kids-IT is valid and reliable for use with Italian children with CP.

Comparison of outcomes between people with and without central cord syndrome.

STUDY DESIGN: Retrospective analysis of prospectively collected data. OBJECTIVE: Central cord syndrome (CCS) is reported to have better outcomes than other cervical lesions, especially for ambulation and bladder recovery. However, a formal comparison between patients with CCS and other incomplete cervical spinal cord injuries (iCSCI) is lacking. Aim of the study is to investigate the neurological and functional outcomes in patients with or without CCS. SETTING: European Multicenter Study. METHODS: Data following SCI were derived from the European Multicenter Study about Spinal Cord Injury Database. CCS was diagnosed based on a difference of at least ten points of motor score in favour of the lower extremities. Patients were evaluated at 30 days, 6 months and 1 year from injury. The neurological and functional data were collected at each time point based on the International Standards for Neurological Classification of Spinal Cord injury (ISNSCI) and Spinal Cord Independence Measure (SCIM). Patients were selected with a matching procedure based on lesion severity, neurological level of injury (NLI) and age. Evaluation of the outcomes was performed by means of two-way Anova for repeated measures. RESULTS: The matching produced 110 comparable dyads. At all time points, upper extremity motor scores remained lower than lower extremity motor scores in CCS compared with iCSCI. With regard to daily life independence, both cohorts achieved comparable improvements in self-care sub-scores between T0 and T2 (6.6 ± 6.5 in CCS vs 8.2 ± 6.9 in iCSCI, p = 0.15) but this sub-score was significantly lower in CCS compared with iCSCI (3.6 ± 5.2 in CCS vs 7.3 ± 7.0 in iCSCI at T0, 13.7 ± 6.2 vs 16.5 ± 5.7 at T2), while the other sub-scores were comparable. CONCLUSIONS: In contrast to previous reports, people with CCS have poorer outcomes of self-care ability compared with iCSCI.