Lower Urinary Tract Dysfunction in Pediatric Patients with Multiple Sclerosis: Diagnostic and Management Concerns.

BACKGROUND: Multiple sclerosis (MS) is increasing in the pediatric population and, as in adults, symptoms vary among patients. In children the first manifestations can sometimes overlap with acute neurological symptoms. Urological symptoms have not been much studied in childhood. We shared our experience with MS urological manifestation in children. METHODS: This article is a retrospective evaluation of all children with MS, according to the Krupp criteria, who also present with urological symptoms. We collected demographic and clinical history, the MR localization of demyelinating lesions, urological symptoms, and exams. RESULTS: We report on six MS pediatric cases with urological manifestation. Urinary symptoms, characterized by urinary incontinence in five patients and urinary retention in one patient, appeared in a different time frame from MS diagnosis. Urodynamic exams showed both overactive and underactive bladder patterns. Treatment was defined according to lower urinary tract dysfunction, using clean intermittent catheterization, oxybutynin, and intradetrusor Onabotulinum Toxin-A injection. A low acceptance rate of invasive evaluation and urological management was observed. CONCLUSIONS: The MS diagnosis was traumatic for all our patients. We believe it is important to address urological care in young people from the time of diagnosis for prompt management; it could be useful to include a pediatric urologist in multidisciplinary teams.

Hypospadias management in children with anorectal malformation: a multidisciplinary single center experience.

Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described. Aim of study is to describe our experience in ARM-hypospadias patients especially in relation to occult spinal dysraphism (OSD). ARM patients treated from 1999 to 2022 were retrospectively reviewed, selecting male with hypospadias. Clinical data, hypospadias's severity, ARM sub-type (Group A: perineal fistula; Group B: urethral fistula, bladder fistula, no fistula), OSD, other associated malformations, NLUTD were evaluated. Exclusion criteria: uncomplete data. Among 395 ARMs, 222 were males, 22 (10%) had hypospadias. Two patients were excluded. Group A: 8 patients, Group-B: 12. Hypospadias: proximal 9 patients, distal 11. Neuro-urological evaluation was performed before hypospadias repair. Eleven patients (55%) had OSD. Four OSD patients presented NLUTD and underwent detethering and CIC (two via cystostomy button, two via appendicostomy); two of them had hypospadias repaired. All proximal hypospadias underwent two stages of surgery. Distal hypospadias was corrected in 4/11 cases. Hypospadias is quite common in ARM patients and its surgical management must be scheduled considering the possible OSD and NLUTD, with the possible need for intermittent catheterization. Complexity of ARM and hypospadias appears to be related to each other.

Development and Pilot Study of a Pediatric Screening for Feeding and Swallowing Disorders in Infants and Children: The Pediatric Screening-Priority Evaluation Dysphagia (PS-PED).

Feeding and swallowing disorders (FSD) are common during childhood, with a prevalence of 85% in children with neurodevelopmental disorders. A comprehensive screening is essential to identify FSD and improve health outcomes in a clinical setting. This study aims to develop a new Pediatric Screening tool capable of identifying FSD. This screening tool was developed in three steps: selecting variables based on clinical experience, searching the literature and finding agreement between experts with a two-round Delphi study. This process, which reached 97% of agreement between experts, led to the development of the Pediatric Screening-Priority Evaluation Dysphagia (PS-PED). PS-PED comprises 14 items divided into three main domains: clinical history, health status and feeding condition. We also carried out a pilot test for measuring internal consistency, as measured with Cronbach Coefficient alpha. Concurrent validity, as measured with Pearson correlation coefficient, was tested using a videofluoroscopy swallow study (VFSS) classified with the Penetration Aspiration Scale (PAS). The pilot test was conducted on 59 children with different health conditions. Our findings showed good internal consistency (alpha = 0.731), and a strong linear correlation with PAS (Pearson 0.824). Furthermore, comparing PS-PED and PAS scores, we find preliminary strong discriminant validity to identify children with FSD (p < 0.01). Our results provide evidence on using the 14-item PS-PED as a screening tool for FSD in a clinical sample of children with heterogeneous disease.

Long-term efficacy of glycopyrrolate on sialorrhea in Goldenhar syndrome: a case report.

BACKGROUND: Goldenhar syndrome (GS) is a rare congenital disease characterized by impaired development of different facial structures and deformations of the teeth structures. Sialorrhea, which can cause difficulties in breathing and language impairment, is very common in GS and often difficult to treat. This case report highlights the short- and long-term importance of the therapeutic choice - glycopyrronium in oral solution - for the treatment of sialorrhea in children with poly-malformative syndrome, complicated by outcomes of post-hemorrhagic hydrocephalus. CASE PRESENTATION: We report the case of a 6-year-old child with GS, carrying a percutaneous endoscopic gastrostomy after tracheostomy. The child also presented developmental dysfunction of oral motor skills of feeding, complicated by severe sialorrhea, related to the maxillo-facial dysmorphism. Sialorrhea caused several respiratory tract infections and led to an increase in the care burden. Both the inoculations of botulinum toxin and the treatment with scopolamine transdermal patch have shown mild and transient efficacy. The therapeutic choice of glycopyrronium in oral solution was the most suitable for this patient, leading to long-term sialorrhea control. CONCLUSIONS: This clinical experience represents the first long-term efficacy and tolerability evaluation in using glycopyrrolate oral solution in treating drooling in children with GS. The reduction of drooling over time and the lack of clinically relevant adverse events have contributed to the decrease of respiratory tract infections, the development of oral motor skills, and determining a positive psycho-social impact on the patient's quality of life and her family.

Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study in Childhood Ataxia.

Non-invasive focal mechanical vibrations (NIFMV) now represent a strategy of increasing interest to improve motor control in different neurological diseases. Nanotechnology allowed the creation of wearable devices transforming thermal variations into mechanical energy with focal vibrations. This kind of wearable stimulators (WS) has produced encouraging preliminary results when used in the treatment of movement disorders and ataxia in adults. In this open label pilot study we first evaluated the feasibility, safety and effectiveness of NIFMV by WS in a cohort of 10 patients with childhood ataxia, a phenomenological category including different conditions still lacking of effective symptomatic therapies. Through the assessment of both clinical rating scales and spatio-temporal gait parameters via standardized gait analysis, we observed that a 4 weeks long treatment with WS Equistasi® was safe and provided significantly different effects in stride features of patients with slow/non-progressive cerebellar ataxia and Friedreich's Ataxia. Although limited by the sample size, the absence of a placebo-controlled group, the poor compliance of enrolled population to the original experimental design and the partial accuracy of outcome measures in pediatric subjects, we suggest that NIFMV by WS could support locomotion of patients with childhood slow/non-progressive cerebellar ataxia with preserved sensory system and no signs of peripheral neuropathy. Future studies are definitely necessary to confirm these preliminary results and define criteria for successful NIFMV-based treatment.

Longitudinal gait assessment in a stiff person syndrome.

Stiff person syndrome (SPS) is an autoimmune disorder with multiple clinical presentations, all characterized by generalized or focal muscular stiffness leading to abnormal postures and movements. To date, no standardized treatments are available; also, the outcome measures are mainly clinical based and unstandardized, limiting the reliability of clinical trials. In this case study, we used the eight-camera motion capture system for gait analysis (GA) to outline the gait features and track the clinical evolution of a young patient with SPS receiving a personalized multimodal therapy. GA was accurate in reflecting clinical changes over a 7-week-long period, thus representing a potential source for objective biomarkers in SPS. Therefore, future studies focusing on either the natural history or the treatment of SPS could adopt GA for reliable outocome measures, confirming this preliminary observation.

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study.

Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the Assessment and Rating of Ataxia (SARA). We assessed the spectrum of changes over 12 months of the gait characteristics and the relationship between clinical and instrumental evaluations. We enrolled 11 genetically confirmed patients affected by Friedreich's ataxia in this study together with 13 normally developing age-matched subjects. Eight patients completed a 12-month follow-up under the same protocol. By comparing the gait parameters of Friedreich's ataxia with the control group, we found significant differences for some relevant indexes. In particular, the increased knee and ankle extension in stance revealed a peculiar biomechanical pattern, which correlated reliably with SARA Total, Gait and Sitting scores. The knee pattern showed its consistency also at the follow-up: Knee extension increased from 6.8±3.5° to -0.5±3.7° and was significantly correlated with the SARA total score. This feature anticipated the loss of the locomotor function in two patients. In conclusion, our findings demonstrate that the selective and segmental analysis of kinetic/kinematic features of ataxic gait, in particular the behavior of the knee, provides sensitive measures to detect specific longitudinal and functional alterations, more than the SARA scale, which however has proved to be a reliable and practical assessment tool. Functional outcomes measures integrated by instrumental evaluation increase their sensitivity, reliability and suitability for the follow-up of the disease progression and for the application in clinical trials and in rehabilitative programs.

Avaliação dos efeitos a longo prazo da acupuntura e exercícios terapêuticos em ombro congelado de pacientes com acidente cerebral vascular / Evaluation of long term effects of acupuncture and therapeutic exercises on frozen shoulder in stroke patients

Objetivo do estudo: Determinar como a acupuntura e a terapia com exercícios afetam a função motora e espasmodicidade das mãos de pacientes com acidente cerebral vascular 6 meses após eles terem recebido este tipo de terapia. Métodos: Estudo clínico prospectivo, aleatório e cego de 20 pacientes, com idades entre 60-70 anos, na fase crônica de 6 meses após o AVC. Os sujeitos do estudo foram divididos em dois grupos: Grupo A, o qual foi tratado com acupuntura e terapia de exercícios (AP-ET) 6 meses atrás e Grupo B, o qual foi tratado apenas com terapia de exercícios (ET) 6 meses atrás. A avaliação incluiu uma entrevista ampla e a administração dos estágios de Brunnstrom, a Medida de Independência Funcional (MIF), a Escala Modificada de Ashworth (MAS), o Teste de Funcionalidade das Extremidades Superiores (UEFT), o Registro de Atividade Motora (MAL), a Série de Movimentos ativos e passivos (ROM, pROM), o teste de FUGL-Meyer da função da extremidade superior (FMA), o Questionário de Croft sobre Incapacidade do Ombro (CSDQ) e a Escala Analógica Visual (VAS) de dor. O Teste-t de Gosset foi usado para uma análise estatística. Resultados: As análises mostraram uma diferença estatisticamente significativa nos SCORES do pós-tratamento em comparação com 6 meses após o tratamento com cada grupo de estudo, para todos os parâmetros examinados (p<0.01 em todos os casos) exceto pelo MAS.

Aim of the study: To determine how acupuncture and exercise therapy affect motor function and spasticity on the hands of stroke patients 6 months after they had received this kind of therapy. Methods: Prospective, randomized, single blind clinical study of 20 patients, age 60-70 years, in the chronic phase 6 months after stroke. Subjects were divided into two groups: Group A, which was treated with acupuncture and exercise therapy (AP-ET) 6 months ago and Group B, which was treated with exercise therapy (ET) alone 6 months ago. the assessment included a comprehensive interview and administration of the Brunnstrom?s stages, Functional Independence Measure (FIM), Modified Ashworth Scale (MAS), Upper Extremity Function Test (UEFT), Motor Activity Log (MAL), active and passive Range of Motion (aROM, pROM), Fugl-Meyer test of upper extremity function (FMA), Croft Shoulder Disability Questionnaire (CSDQ) and Visual Analogue Scale (VAS) of pain. The Gosset t-Test was used for the statistical analysis. Results: Analyses showed a statistically significant difference in the post-treatment SCORES as compared to 6 months after treatment within each study group for all parameters examined (p<0.01 in all cases) except for MAS. Analyses showed a statistically significant difference in some parameters in the ET group as compared to the AP-ET group with greater mean values recorded in the AP-ET group for MAS and CSDQ. All other parameters showed no statistical differences between the two different therapy groups 6 months after the therapy. Conclusion: The results confirm the hypothesis that acupuncture and exercise therapy are useful in the treatment of frozen shoulder in stroke patients and that their effects are still present after 6 months of therapy, however, given the small patient population, further studies are needed to verify these results.