European Journal of Paediatric Neurology最新文献

Purpose

To investigate validity and reliability of the Kinesthetic and Visual Imagery Questionnaire-10 (KVIQ-10) in children with Duchenne Muscular Dystrophy (DMD), to compare the motor imagery (MI) ability with age-matched controls, and to examine the relationship between MI ability and cognitive status.

Methods

The research involved 38 children who were diagnosed with DMD, as well as 20 healthy controls aged between 7 and 18 years. The KVIQ-10 was assessed for its test-retest reliability, internal consistency, construct and concurrent validity. The Motor Imagery Questionnaire for Children (MIQ-C) was selected as the gold standard test for concurrent validity. Cognitive function was assessed using the Modified Mini Mental Test (MMMT) and Montreal Cognitive Assessment (MoCA).

Results

KVIQ-10 showed excellent test-retest reliability (ICC>0.90) and high internal consistency (Cronbach's alpha>0.70). A moderate-to-strong association was found between KVIQ-10 and MIQ-C subscales (p < 0.001). KVIQ-10 and MIQ-C subscores were statistically lower in the DMD group (p ≤ 0.05). A correlation was found between MoCA and KVIQ-10 in children with DMD (p ≤ 0.05).

Conclusions

The KVIQ-10 is a reliable and valid measure to assess the MI ability of children with DMD whose imagery ability was determined to be impaired.

Clinical trial registration number and url

NCT05559710 (https://classic.clinicaltrials.gov/ct2/show/NCT05559710?term=NCT05559710&draw=2&rank=1)

Objective

Music therapy (MT) is proposed to enrich the acoustic environment of very preterm infants (VPT) on the neonatal intensive care unit during a vulnerable period of brain development. The objective of this study was to investigate the effect of MT on the white matter (WM) microstructure. It is hypothesized that MT affects WM integrity in VPT.

Methods

Randomized controlled trial enrolling infants born <32 weeks’ gestation. Infants were randomized to MT or standard care. Live MT was provided twice weekly from the second postnatal week onwards by a trained music therapist. At term equivalent age, participants underwent a cranial magnetic resonance imaging scan including sequences for diffusion tensor imaging analysis. Differences in WM microstructure were assessed using tract based spatial statistics with fractional anisotropy.

Results

Of 80 infants enrolled, 42 were eligible for diffusion tensor imaging analysis (MT: n = 22, standard care: n = 20). While primary tract based spatial statistics analysis revealed no significant differences between groups, post hoc analysis with uncorrected p-values and a significance threshold of p < 0.01 revealed significant fractional anisotropy differences in several WM tracts including the bilateral superior longitudinal fasciculus, the left forceps minor and left fasciculus uncinatus, the corpus callosum, the left external capsule, and the right corticospinal tract.

Conclusion

Post hoc analysis results suggest an effect of MT on WM integrity in VPT. Larger studies including long-term outcome are necessary to confirm these effects of MT on WM microstructure and to assess its impact on clinical neurodevelopment.

Clinical trial registration

Clinical trial number DRKS00025753.

Aim

This exploratory study evaluates rating scale usage by experts from the European Reference Network for Rare Neurological Diseases (ERN-RND) for paediatric MD, considering factors like diagnosis, intellectual disability, age, and transition to adult care. The aim is to propose a preliminary framework for consistent application.

Methods

A multicentre survey among 25 ERN-RND experts from 10 European countries examined rating scale usage in paediatric MD, categorizing MD into acute, non-progressive, and neurodegenerative types. Factors influencing scale choice and the transition to adult care practices were analysed. A comprehensive literature search was conducted to identify the earliest age of application of these scales in paediatric patients.

Results

The study identifies various rating scales and establishes their usage frequencies for different MDs. Experts highlighted the need for standardized scales and proposed preliminary evaluation strategies based on clinical contexts. Challenges in applying scales to young, non-cooperative patients were acknowledged.

Interpretation

The study recommends developing standardized rating scales for paediatric MDs to improve evaluations and data collection. It suggests potential scales for specific clinical scenarios to better evaluate disease progression. Comprehensive, patient-centred care remains crucial during the transition to adult care, despite the identified challenges. This exploratory approach aims to enhance patient outcomes and care.

Background

Children with Attention Deficit Hyperactivity Disorder (ADHD) demonstrate a heterogeneous sensorimotor, emotional, and cognitive profile. Comorbid sensorimotor imbalance, anxiety, and spatial disorientation are particularly prevalent among their non-core symptoms. Studies in other populations presented these three comorbid dysfunctions in the context of vestibular hypofunction.

Objective

To test whether there is a subgroup of children with ADHD who have vestibular hypofunction presenting with concomitant imbalance, anxiety, and spatial disorientation.

Methods

Children with ADHD-only (n = 28), ADHD + Developmental Coordination Disorder (ADHD + DCD; n = 38), and Typical Development (TD; n = 19) were evaluated for vestibular function by the Dynamic Visual Acuity test (DVA-t), balance by the Bruininks-Oseretsky Test of motor proficiency (BOT-2), panic anxiety by the Screen for Child Anxiety Related Emotional Disorders questionnaire-Child version (SCARED-C), and spatial navigation by the Triangular Completion test (TC-t).

Results

Children with ADHD vs. TD presented with a high rate of vestibular hypofunction (65 vs. 0 %), imbalance (42 vs. 0 %), panic anxiety (27 vs. 11 %), and spatial disorientation (30 vs. 5 %). Children with ADHD + DCD contributed more frequent and severe vestibular hypofunction and imbalance than children with ADHD-only (74 vs. 54 %; 58 vs. 21 %, respectively). A concomitant presence of imbalance, anxiety, and spatial disorientation was observed in 33 % of children with ADHD, all sharing vestibular hypofunction.

Conclusions

Vestibular hypofunction may be the common pathophysiology of imbalance, anxiety, and spatial disorientation in children. These comorbidities are preferentially present in children with ADHD + DCD rather than ADHD-only, thus likely related to DCD rather than to ADHD disorder. Children with this profile may benefit from a vestibular rehabilitation intervention.

Objective

This systematic review provides an update on outcomes for patients with spinal muscular atrophy (SMA) type 1 to 4 treated with approved therapeutics, including the most recent, risdiplam, for an observation period of up to 48 months.

Methods

A systematic literature search was conducted in July 2023 in four databases. Selected publications were assessed for internal validity and risk of bias by two authors and relevant data were extracted into standardised tables. Results were summarised narratively as substantial heterogeneity of studies prevents meaningful quantitative analysis.

Results

Twenty observational studies and one RCT were included in the analysis, fifteen studies on nusinersen, one on onasemnogene abeparvovec and two on risdiplam. Evidence supports the effectiveness of the therapies in motor function improvement for up to 48 months of follow-up in the SMA types specified in their respective indications. Better results were observed with earlier treatment initiation and higher baseline function. Whilst motor improvement was consistently observed, regardless of SMA type or treatment used, we noted no significant improvements in respiratory and nutritional outcomes. Quality of life endpoints were rarely investigated. Adverse events were common but seldom classified as treatment–related except for post–lumbar puncture syndrome, which was frequently reported across nusinersen studies.

Conclusion

The treatment of SMA with the new therapies changes the disease phenotype with changes in motor function far exceeding any improvement in respiratory and nutritional function. Questions persist on long-term efficacy, potential regressions, impact on quality of life and social functioning, therapy duration, and discontinuation indicators.

Aim

To explore the perspectives of cerebral palsy (CP) experts on access to healthcare and an analysis of socioeconomic and environmental determinants impacting young individuals with CP in Europe.

Method

Cross-sectional survey designed by a convenience multi-disciplinary panel of invited experts and completed by clinicians, researchers and opinions leaders in the field of CP.

Results

Fifty-eight experts (response rate 85 %) from 39 regions in 26 European countries completed the survey. All countries provide care and financing through public systems. Long waiting lists were reported (mean 3 mo, range 1–12 mo), depending on type of specialist care and place of residence. Although diagnostic and therapeutic services were available, access within countries/regions were unevenly distributed, with children receiving better care than adults. Most experts reported a lack of transition services, although improvement is expected (62 % of responses). Hip and malnutrition surveillance, as well as educational and recreational activities were variably available. Public transportation, accessible roads and pavements, and urban green spaces for persons with disabilities were more available in larger cities. Overall, only 57 % of responders felt that most patients had adequate access to healthcare.

Conclusion

The survey of CP experts’ perspectives from the majority of European countries indicates discrepancies in the availability and accessibility of healthcare needed by people with CP and nonuniform implementation of policies across Europe.

Spinal muscular atrophy (SMA) is one of the most common genetic diseases and was, until recently, a leading genetic cause of infant mortality. Three disease-modifying treatments have dramatically changed the disease trajectories and outcome for severely affected infants (SMA type 1), especially when initiated in the presymptomatic phase. One of these treatments is the adeno-associated viral vector 9 (AAV9) based gene therapy onasemnogene abeparvovec (Zolgensma®), which is delivered systemically and has been approved by the European Medicine Agency for SMA patients with up to three copies of the SMN2 gene or with the clinical presentation of SMA type 1. While this broad indication provides flexibility in patient selection, it also raises concerns about the risk-benefit ratio for patients with limited or no evidence supporting treatment.

In 2020, we convened a European neuromuscular expert working group to support the rational use of onasemnogene abeparvovec, employing a modified Delphi methodology. After three years, we have assembled a similar yet larger group of European experts who assessed the emerging evidence of onasemnogene abeparvovec's role in treating older and heavier SMA patients, integrating insights from recent clinical trials and real-world evidence. This effort resulted in 12 consensus statements, with strong consensus achieved on 9 and consensus on the remaining 3, reflecting the evolving role of onasemnogene abeparvovec in treating SMA.