[Guidelines on the urological management of the adult patient with spinal dysraphism (spina bifida)]. / Recommandations sur la gestion du risque et la prise en charge urologique du patient adulte atteint de dysraphisme spinal (spina bifida).

INTRODUCTION: Improved life expectancy and prenatal screening have changed the demographics of spina bifida (spinal dysraphism) which has presently become a disease of adulthood. Urinary disorders affect almost all patients with spinal dysraphism and are still the leading cause of mortality in these patients. The aim of this work was to establish recommendations for urological management that take into account the specificities of the spina bifida population. MATERIALS AND METHODS: National Diagnosis and Management Guidelines (PNDS) were drafted within the framework of the French Rare Diseases Plan at the initiative of the Centre de Référence Maladies Rares Spina Bifida - Dysraphismes of Rennes University Hospital. It is a collaborative work involving experts from different specialties, mainly urologists and rehabilitation physicians. We conducted a systematic search of the literature in French and English in the various fields covered by these recommendations in the MEDLINE database. In accordance with the methodology recommended by the authorities (Guide_methodologique_pnds.pdf, 2006), proposed recommendations were drafted on the basis of this literature review and then submitted to a review group until a consensus was reached. RESULTS: Bladder dysfunctions induced by spinal dysraphism are multiple and varied and evolve over time. Management must be individually adapted and take into account all the patient's problems, and is therefore necessarily multi-disciplinary. Self-catheterisation is the appropriate micturition method for more than half of the patients and must sometimes be combined with treatments aimed at suppressing any neurogenic detrusor overactivity (NDO) or compliance alteration (anticholinergics, intra-detrusor botulinum toxin). Resort to surgery is sometimes necessary either after failure of non-invasive treatments (e.g. bladder augmentation in case of NDO resistant to pharmacological treatment), or as a first line treatment in the absence of other non-invasive alternatives (e.g. aponeurotic suburethral tape or artificial urinary sphincter for sphincter insufficiency; urinary diversion by ileal conduit if self-catheterisation is impossible). CONCLUSION: Spinal dysraphism is a complex pathology with multiple neurological, orthopedic, gastrointestinal and urological involvement. The management of bladder and bowel dysfunctions must continue throughout the life of these patients and must be integrated into a multidisciplinary context.

[Evaluation of adherence and satisfaction with intermittent catheterization in children: Feasibility and first steps of validation of InCaSaQ and ICAS in the pediatric population]. / Évaluation de l'adhérence et de la satisfaction aux sondages intermittents chez l'enfant : étude de faisabilité et premières étapes de validation d'InCaSaQ et ICAS dans la population pédiatrique.

INTRODUCTION: In pediatric neurourology, clean intermittent catheterization (CIC) setting, and then self catheterization learning are important steps for children with neurogenic bladder. There is no adherence and satisfaction evaluation scale for children who are using self or hetero CIC. The aim of this article is to study the feasibility of using InCaSaQ (Intermittent Catheterization Satisfaction Questionnaire) and ICAS (Intermittent Catheterization Adherence Scale) in children, and to validate the first steps. PATIENTS AND METHODS: Scale validation monocentric study. Inclusion criterias were patients with neurogenic bladder, under the age of 18, using CIC (auto or hetero). The questionnaires ICAS and InCaSaQ were sent twice between 2017 March and April, and then filled by the child or his parents depending on who was doing the CIC. The internal concistency (Cronbach's alpha) measured the construct validity. The reproductibility was measured by the intraclass correlation cœfficient (ICC) and the Wilcoxon and McNemar tests. Filling facility was evaluated for each score (evaluation with a 0 to 10 scale from the person who filled the questionnaire). RESULTS: Twenty two patients were included, and 50 questionnaires filled (25 ICAS and 25 InCaSaQ), twice each. Internal consistency was good for InCaSaQ (Cronbach's alpha>0,7) and so was ICAS and InCaSaQ reproductibility (ICC>0,7 for most of the questions). Patients under hetero-CIC had a worse adherence than parents of children under hetero-CIC (ICAS 3,25 versus 0,7 for children under hetero-CIC). The lowest InCaSaQ item was the way of throwing away their catheter. CONCLUSIONS: ICAS and InCaSaQ are interesting tools which can be used for children under auto and hetero-CIC. Studies with more patients will be necessary for finalizing the validation of these scales in the pediatric population. LEVEL OF PROOF: 4.

[Social participation after childhood craniopharyngioma]. / Morbidité et impact sur la participation sociale du craniopharyngiome de l'enfant.

Craniopharyngioma is a rare, benign central nervous system tumor, which may be a source of multiple complications, from endocrinology to vision, neurology and neurocognitive functions. This morbidity can lead to reduced participation in life activities, as described in the International Classification of Functioning, Disability, and Health. The primary objective of this study was to measure participation in life activities in a population of children and young adults affected by childhood craniopharyngioma, using the LIFE-H questionnaire (Assessment of Life Habits), validated as a social participation measurement tool in various pediatric disabilities. We also describe complications in our population and examined the potential links between tumor characteristics, complications, and participation in life activities. PATIENTS AND METHODS: This was a descriptive study, including all patients having presented childhood craniopharyngioma (before 18 years of age), followed in the Lyon region between 2007 and 2013. The main criterion was the LIFE-H results, completed by the patient or the carer. RESULTS: Of 21 patients included in the study, 14 completed the questionnaire, a mean 6.7 years after the diagnosis (SD: 3.9 years). The mean total LIFE-H score was 8.4 (SD: 1.03) for a normal score estimated at 10 in the general population. The lowest scores affected the nutrition, community life, and recreation dimensions. No patient had a normal score on all dimensions; 57% of the patients had more than three dimensions affected. The variability of the results between patients was lower for some dimensions with high means (fitness, personal care, communication, housing, mobility, responsibilities, and education) than in others (nutrition, interpersonal relationships, community life, employment, and recreation) with rather low means. All patients had an endocrinological deficit, 19% hypothalamic syndrome, 52% an impaired fulfillment feeling, 76% visual impairment, 14% neurologic impairment, and 91% neurocognitive impairment. In the entire group of patients, 57% were able to attend a normal school (of which 38% needed a personal helper), 43% had to enter a specialized school. In patients in a specialized school, the LIFE-H results were significantly lower in the nutrition, communication, housing, and recreation dimensions. Girls also had significantly better results in many dimensions than boys. DISCUSSION: Heavy comorbidity goes with childhood craniopharyngioma and affects patients' participation in life activities, which is not very low but multidimensional (more than three affected dimensions). This participation is mainly affected in social dimensions, whereas in cerebral palsy, where the LIFE-H has been tested several times, the daily activities dimensions are more affected. CONCLUSION: Patients with childhood craniopharyngioma are affected in their participation in daily activities, mainly in the social dimensions. This could be improved with systematic diagnosis of these participation impairments, with the goal of adapted multidisciplinary management.