Developmental Medicine and Child Neurology最新文献

Aim: To assess the effect of the augmented reality application called Minidocs on pain reduction during botulinum neurotoxin A (BoNT-A) injections in children with cerebral palsy (CP).

Method: Children with CP aged 3 to 8 years undergoing BoNT-A injection were randomized to usual pain management alone (n = 41) or combined with Minidocs (n = 39). Minidocs is an augmented reality application on a digital device offering several games including active distraction, hypnotic suggestion, and counter-aggression features. The primary outcome was the child's pain during BoNT-A injection, combining patient-reported (Faces Pain Scale [FPS]) and observer-reported (Face, Legs, Activity, Cry, Consolability scale [FLACC]) outcomes. Secondary outcomes included anxiety of children (Modified Yale Preoperative Anxiety Scale) and parents (State-Trait Anxiety Inventory Form Y-1), and satisfaction with Minidocs.

Results: In total, 14 out of 41 (34.1%) children in the control group and 7 out of 39 (17.9%) children in the experimental group experienced pain (i.e. FPS or FLACC scores ≥4). The difference between groups was not statistically significant (odds ratio 0.36; 95% confidence interval 0.11-1.16; p = 0.087). Changes in anxiety scores from before to after injection did not differ between groups. Satisfaction with the use of Minidocs was high.

Interpretation: This study did not demonstrate the benefit of augmented reality on pain reduction. The counter-aggression feature is an innovation of Minidocs worth exploring. Further studies are needed to identify profiles of children who respond to non-drug therapies.

Aim: To expand the scope of the Hand Assessment for Infants (HAI) by validating its internal scale structure and reliability in infants with a corrected age of 3 to 12 months who are at risk of bilateral or unilateral cerebral palsy (CP).

Method: This test-validation study included 274 HAI assessments collected from 221 infants (mean age = 7 months, SD = 2.4 months, 132 males) at risk of unilateral (n = 123) or bilateral (n = 98) CP. Each assessment was scored on 17 HAI items (12 unimanual and five bimanual) and analysed using the Rasch measurement model.

Results: Strong internal scale validity and person and item reliability were found for the HAI items when analysed separately for infants at risk of unilateral and bilateral CP. Logit measures for both scales were linked to a common reference frame, allowing comparable overall bimanual performance measures (HAI unit) while maintaining distinct item difficulty hierarchies.

Interpretation: The HAI provides valid and reliable measures of hand use in infants at risk of bilateral and unilateral CP regardless of the severity of manual impairments. By linking the scales, the HAI unit provides a comparable measure of bimanual performance across CP subtypes. Thus, the subtype of CP does not need to be determined before data collection.

Aim: To investigate the content and construct validity of the Both Hands Assessment (BoHA) for children and adolescents with bilateral cerebral palsy (CP), classified in Manual Ability Classification System (MACS) levels I to III, aged 18 months to 18 years.

Method: In this cross-sectional study, we included 61 adolescents with bilateral CP (37 males, 24 females, mean age 15 years 6 months, SD = 2 years 3 months) who were assessed with the BoHA to investigate content validity. Their BoHA results were combined with data from 210 children (121 males, 89 females, mean age 6 years 4 months, SD = 3 years 1 month), resulting in 271 BoHA assessments for the Rasch measurement model analyses investigating construct validity.

Results: After revising the bimanual item 'orients objects', the BoHA items were suitable for scoring bimanual performance in adolescents. Strong internal scale validity and reliable item and person measures were demonstrated for the 16 BoHA items, analysed separately for individuals with asymmetric (n = 94) and symmetric (n = 177) hand use. The BoHA logit measures were linked to the same reference frame, enabling comparable overall bimanual performance measures while maintaining separate item difficulty hierarchies.

Interpretation: The BoHA scale can measure bimanual performance in individuals with bilateral CP, classified in MACS levels I to III, aged 18 months to 18 years. This allows for monitoring development and evaluating the effectiveness of intervention from early childhood to adulthood.

Hypotonia in childhood may arise because of dysfunction across the neuroaxis. Hypotonia is termed central when it arises because of dysfunction of the central nervous system, in contrast to peripheral hypotonia which is due to neuromuscular disorders. Central hypotonia predominantly affects the axial region of the body and is the most common form of hypotonia. For many children and young people a mixed picture is seen, with some elements of inappropriately high or low tone coinciding. This review explores the pathophysiological mechanisms of central hypotonia, focusing particularly on the role of descending motor pathways and the cerebellum as potential avenues for intervention. A case is made that hypotonia is an underappreciated and underexplored component of the central motor disorder.

Aim: To explore the integrated cardiopulmonary, metabolic, and muscular response to incremental exercise in individuals with cerebral palsy (CP) compared with typically developing participants.

Method: This was a prospective cross-sectional study. Sixteen (seven male) individuals with CP (classified in Gross Motor Function Classification System levels II-V) and 30 (15 male) typically developing participants performed a treadmill-based incremental submaximal test and an exercise test to task failure. Participants used running frames (CP) or performed traditional running (typically developing participants). Metabolic and cardiopulmonary parameters were measured during both tests. Electromyography of the vastus lateralis and gastrocnemius medialis was recorded during the test to task failure.

Results: Compared with typically developing participants, individuals with CP showed decreased minute ventilation (p < 0.05), increased respiratory frequency at a comparable exercise intensity (p < 0.05), and an altered metabolic response, on the basis of the partial pressure of carbon dioxide (p < 0.05) and lactate levels (p < 0.001), during both tests. In addition, participants with CP exhibited a lower ventilatory efficiency during the test to task failure (p < 0.01). Electromyography analysis suggested peripheral skeletal muscle fatigue in the lower limbs (p < 0.05) in individuals with CP compared with typically developing participants.

Interpretation: Individuals with CP have a disproportional ventilatory response to incremental exercise, not driven by metabolic perturbations. The increased breathing frequency resulted in high rate of perceived exertion and signs of peripheral muscle fatigue compared with typically developing participants. Our findings stress the importance of interventions focused on ventilatory function in individuals with CP.

Aim: To develop a brief, reliable, and valid screening tool and to provide normative data for the identification of individuals with Duchenne muscular dystrophy (DMD) at risk of brain-related comorbidities.

Method: An 18-item proxy/self-report screening tool covering nine comorbidity areas was developed on the basis of existing literature and expert consensus, and translated into 11 languages. In this cross-sectional observational study, data from 835 individuals with DMD (aged 5-42 years) were used to assess reliability, construct validity, and diagnostic accuracy. A subsample of 90 participants completed cognitive and behavioural assessments for concurrent validity analyses.

Results: The Brain Involvement iN Dystrophinopathies (BIND) screener showed excellent internal consistency (α = 0.89) and a factor structure aligned with theoretical domains. Age-related patterns were observed across domains. The total score (Duchenne Brain Comorbidity Score) correlated with clinical and cognitive markers in the validation subsample. Receiver operating characteristic analysis in the full sample yielded an area under the curve of 0.78, with a cut-off score of 20/72 providing optimal sensitivity (71.6%) and specificity (72.5%) for identifying parent- or self-reported neurodevelopmental conditions previously diagnosed by professionals.

Interpretation: The BIND screener is a brief, psychometrically robust tool that facilitates early identification of brain-related comorbidities in DMD and may be applied in both clinical practice and research.

The aim of this study was to review and summarize the literature describing clinically observed or caregiver-reported and patient-reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023). Case reports and series, observational studies, non-randomized and single-arm trials, and registries and databases reporting seizure-related and non-seizure-related outcomes in patients aged 18 years or younger with KCNQ2 DEE were eligible for inclusion. Results were summarized according to outcome type (seizure-related and non-seizure-related) and patient age. Of 92 publications reporting KCNQ2 DEE outcomes, 70 reported patient-level data, of which the most common age was younger than 5 years old. Seizures were frequently reported (69 of 70 publications for 338 patients). Seizure onset was primarily within the first week of life (n = 334 of 356 seizure events; 93.8%), with frequency commonly reported as 'multiple daily'. Seizure resolution was reported for 56.2% of patients; most (87.0%) achieved resolution by age 5 years. Seventy publications reported non-seizure-related outcomes for 289 patients. Neurological (73.3%) and developmental (52.9%) manifestations were frequently reported, with muscle tone (71.7%), gross motor (67.3%), and communication (66.6%) impairments being most common. Similar findings were observed across 23 publications reporting pooled patient data. While seizures were typically resolved in early life, non-seizure-related outcomes gained more prominence as children aged, highlighting the evolving challenges for individuals living with KCNQ2 DEE.

Aim: To assess the long-term efficacy of vagus nerve stimulation (VNS) in Dravet syndrome and identify key factors influencing treatment response.

Method: We conducted a two-center, retrospective cohort study of 15 patients (six females, nine males; median age at seizure onset 4 months [range 2-12 months]) with Dravet syndrome who underwent VNS implantation. Seizure frequency was evaluated over 12 months and up to 10 years after implantation. Linear mixed-effects regression was used to analyze the impact of antiseizure medications (ASMs) and VNS parameters on seizure outcomes.

Results: A 50% or greater reduction in seizure frequency was observed in 93.3% (14 of 15) of patients at 12 months and 86.7% (13 of 15) of patients across the 10-year follow-up. This seizure reduction was independent of ASM use; the VNS duty cycle was a significant predictor of seizure reduction. Two individuals (13.3%) experienced minor adverse events.

Interpretation: VNS provides durable seizure reduction in Dravet syndrome, independent of ASM adjustments. These findings highlight the importance of early VNS initiation and parameter optimization in managing genetically defined epilepsy syndromes.