Developmental Medicine and Child Neurology最新文献

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.

The goal of this study was to assess the impact of wearing an eye patch on seizure frequency in patients with Sunflower syndrome, a reflex photosensitive epilepsy. Caregivers were instructed to record the number of handwaving episodes (HWEs) that occurred per hour under each of the following conditions: (1) no eye patch, (2) wearing an eye patch on the eye ipsilateral to the hand involved in handwaving, and (3) wearing an eye patch on the eye contralateral to the hand involved in handwaving. Patients performed each trial three times, for a total of nine 1-hour trials. Seven patients (five females, two males; age range 8 years 10 months-21 years 5 months, median age = 11 years 2 months) participated in this study. All patients experienced a decrease in HWEs while wearing an eye patch on either eye. Across all patients, the median frequency of HWEs with no eye patch (baseline) was 136 HWEs/hour. When patching the contralateral eye, the median frequency was 26 HWEs/hour. When patching the ipsilateral eye, the median frequency was 23 HWEs/hour. The findings in this study suggest that blocking sensory input to one eye may significantly reduce seizure frequency in patients with Sunflower syndrome. This may inform theories around the pathophysiology of Sunflower syndrome and provide insight into more effective treatment options.

Spinal muscular atrophy (SMA) type 1 is a genetic condition that causes severe muscle weakness. New treatments introduced in recent years have dramatically improved survival and movement abilities in children with SMA type 1. However, doctors and families have noticed that some treated children may experience delays in thinking skills, language development, and social interaction, with reports ranging from 9% to 60% of children affected.

This review examined existing research to understand whether these difficulties represent true brain involvement or whether they appear worse than they really are, because standard developmental tests require physical abilities that children with SMA cannot perform.

While some children with SMA type 1 may experience genuine brain-related developmental challenges, current testing methods may overestimate these problems because they do not account for severe physical limitations. This creates unnecessary worry for families and may lead to inaccurate diagnoses.

Healthcare professionals need clear, consistent definitions of developmental disorders in SMA, adapted assessment tools that separate thinking abilities from physical abilities and develop/validate new testing approaches using eye-tracking, lightweight materials, or alternative methods that preserve the cognitive challenge while removing motor barriers.

In this study, researchers looked at how often children with cerebral palsy (CP) experience problems with eating and drinking, and whether these problems are linked to undernutrition (such as low weight, height, or body mass index). The study used data from 2280 children with CP in Sweden.

Rett syndrome is a rare genetic condition that causes serious difficulties with movement, speech, and breathing. Many individuals with Rett syndrome experience sudden ‘episodes’ of unusual breathing, movements, or behaviour. These can look like epileptic seizures, but not all of them are caused by epilepsy. This confusion can lead to unnecessary treatments and extra stress for families.

Our study reviewed 62 research papers published over nearly six decades to understand what types of non-epileptic paroxysmal events (sudden but not seizure-related episodes) occur in individuals with Rett syndrome. We included case reports, family observations, and clinical studies describing these events.

We found that non-epileptic events are quite common and include changes in breathing (such as breath-holding, and hyperventilation), sudden movements (like dystonic posturing or jerking), and abrupt behavioural or emotional changes (such as panic, laughter, or agitation). These episodes often overlap. For example, a breathing change might occur together with altered awareness or body stiffness. Importantly, many of these events were initially thought to be epileptic seizures but were later shown on video-electroencephalogram (EEG) not to be epileptic.

Recognizing the difference between epileptic and non-epileptic episodes is essential. Giving antiseizure medication when it is not needed can cause side effects without benefit. Using tools such as video-EEG, home video recordings, and breathing or heart-rate monitoring can help doctors make a clearer diagnosis. Families play a key role in sharing observations and recordings of these episodes.

The prevalence of cerebral palsy (CP) in low- and middle-income countries is almost twice that in high-income countries. Since 2007, there has been greater appreciation of the social and cultural perceptions of individuals with CP and their lived experiences. An increasing number of CP registries have been established in low- and middle-income countries, enabling improvements in prevention and intervention programs. However, in Brazil, there is still no unified national registry for CP.

The SARAH Network of Rehabilitation Hospitals described the profile of 17 771 Brazilian individuals with CP, from January 2023 to September 2024, who were followed at its rehabilitation units located in four of the five regions of the country.

Brazil presents large socioeconomic inequalities, with characteristics that in some aspects resemble high-income countries and in others resemble low- and middle-income countries. These differences impact access to public health services across regions and are also reflected in CP indicators. The Brazilian profile showed a higher mean age at CP diagnosis, with most cases attributed to perinatal (the period surrounding childbirth) factors, a higher prevalence of spasticity with bilateral (affecting both sides) involvement, and a greater proportion of severe cases according to the Gross Motor Function Classification System – patterns typically seen in low- and middle-income countries. On the other hand, some characteristics were closer to those of high-income countries, such as more than half of the births being vaginal deliveries and most infants having a normal birthweight.