Developmental Medicine and Child Neurology最新文献

Aim: To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis.

Method: This single-center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed PreViAs. Data were extracted from the electronic medical record. Data analysis included sensitivity, specificity, area under the curve, and Fisher's exact test.

Results: Of the 205 charts screened, 98 met study criteria (81 with CVI, 17 without); ages ranged from 3 to 50 months. The mean age of children with CVI was 15.41 months (SD = 8.93) and without was 13.24 months (SD = 5.98). Among the PreViAs domains, visual processing showed the highest frequency of concern (CVI = 94%; non-CVI = 76%), while visual attention had the lowest (CVI = 72%; non-CVI = 41%). Visual processing demonstrated the highest sensitivity (93.8%), whereas visual attention showed the best balance of sensitivity (71.6%) and specificity (58.8%). Area under the curve ranged from 0.59 to 0.66. All domains demonstrated significant differences between children with and without CVI (Fisher's exact test, p < 0.05).

Interpretation: Effective screening tools are critical for detection of CVI. The PreViAs is a sensitive screening tool in children at high risk for CVI. Children with concerns on the PreViAs should be referred for an interdisciplinary CVI evaluation.

Photosensitive epilepsy is the most common form of stimulus-induced epilepsy. We describe two unrelated females aged 9 years and 10 years, with prolonged photic-induced absence seizures triggered by a commercially available red-light flashing pen popular among children. Both patients underwent clinical assessment and electroencephalography (EEG) with intermittent photic stimulation. Their EEGs showed a generalized photoparoxysmal response to intermittent photic stimulation. Exposure to the pen, performed in the 9-year-old, elicited a powerful photoparoxysmal discharge. Both patients were successfully treated with valproic acid, preventative measures, and avoidance of known triggers. These observations highlight the risk posed by poorly regulated flashing lights in consumer products. Despite past efforts to regulate visual stimuli in video games and media, current regulatory frameworks do not adequately address emerging light-emitting diode-based technologies, leaving vulnerable populations exposed to preventable risks. There is a pressing need for updated safety standards to prevent seizure-provoking stimuli, especially in products marketed to children.

Advancements in the treatment of cerebral palsy depend on animal research. Yet, most animal models have not been fully evaluated for spasticity and dystonia using clinically relevant measures of altered tone or movement patterns, which form the basis for diagnosing people with the condition. Sensory differences and pain are almost never studied in animal models. Complicating factors include the diversity of animals and injuries used to model the condition, the diversity of outcomes after acquired injury, and translating clinical measures into reliable and repeatable measurements tailored to animals, ideally using common data elements. We summarize preclinical models based on acquired injury to the nervous system in cerebral palsy research over the years and provide a comparison of developmental time courses for common laboratory animals. We encourage researchers to coalesce on consistent, reliable measurements for assessing both sensory and motor systems to ensure that animal models reflect meaningful aspects of the condition.

Aim: To evaluate the effectiveness of repeated botulinum neurotoxin A (BoNT-A) injections on gross motor function over 3 years in ambulant children with spastic cerebral palsy (CP).

Method: A prospective observational cohort study of 124 participants was conducted comparing outcomes in children (aged 2-6 years) with spastic CP functioning in Gross Motor Function Classification System (GMFCS) levels I to III who did and did not receive BoNT-A. The primary outcome was the 66-item Gross Motor Function Measure (GMFM-66), assessed at baseline and annually over 3 years. Secondary outcomes included passive ankle dorsiflexion with knee extended (PADKE) and several measures of activity and participation.

Results: A total of 117 participants (94%), consisting of 61 cases and 56 comparisons, were assessed on the GMFM-66 at a follow-up of 1 year or longer, with 106 (85%) assessed at year 3. There were no significant differences in mean GMFM-66 scores adjusted for baseline differences between groups over time (β̂_group = 0.92, standard error [SE] = 0.81, 95% confidence interval [CI] = -0.66 to 2.50; p = 0.256). A difference in PADKE favouring the comparison group was observed (β̂_group = -4.17, SE = 1.58, 95% CI = -7.27 to -1.08; p = 0.009), approaching the 5° minimally important difference.

Interpretation: Repeated BoNT-A injections over 3 years were not associated with improvements in gross motor function or passive ankle dorsiflexion range in young children with spastic CP functioning in GMFCS levels I to III compared to a comparison group not receiving BoNT-A.

This letter to the editor is on the Editorial by Mayston. To view this paper visit https://doi.org/10.1111/dmcn.16220.

Aim: To develop and externally validate a bio-ecological model for early screening of developmental coordination disorder (DCD) using maternal and environmental risk factors from electronic health records, aimed at improving early detection in children under 5 years.

Method: This was a prospective study that examined data from 150 948 preschool children in China. Perinatal and sociodemographic predictors were integrated using logistic regression and random forest algorithms. The model was internally validated on split training and testing subsets and externally validated on an independent clinical sample of 1359 children aged 3 to 10 years, including confirmed diagnoses of DCD. Model performance was evaluated using the area under the curve (AUC), sensitivity, specificity, and accuracy.

Results: In the group aged 3 to 5 years, the model achieved an AUC of 0.70, sensitivity of 71.43%, accuracy of 77.61%, and specificity of 78.00%. In the group aged 6 to 10 years, performance was moderate (AUC = 0.58; sensitivity = 54.88%; accuracy = 61.50%; specificity = 62.28%).

Interpretation: This bio-ecological model offers a scalable, cost-effective tool to support the early identification of DCD using electronic health record data. It performs well in early childhood and maintains moderate accuracy in older children, supporting its utility for longer-term risk prediction. The model could enhance existing screening systems by enabling earlier triage and intervention. Further validation across diverse health care settings is warranted.

Aim: To study the neurodegenerative diseases that cause progressive intellectual and neurological deterioration (PIND) in children in the UK.

Method: This active prospective epidemiological study asked UK paediatricians to notify all childhood cases of PIND via the British Paediatric Surveillance Unit. Clinical data were obtained using a questionnaire or via a site visit. An independent PIND study Expert Group classified the cases.

Results: Between May 1997 and April 2024 (27 years), 2373 children with PIND were identified who had an underlying diagnosis to explain their deterioration. There were six cases of variant Creutzfeldt-Jakob disease plus 2367 children (1265 males, 1102 females) with other diseases. The lifetime risk of having a diagnosed disease causing PIND was 0.1 in 1000 live births. Asian British children made up 28.6% of the 2183 cases with known ethnicity. Excluding variant Creutzfeldt-Jakob disease, diagnosed children had 259 diseases, identified before death in 99% of children (only 39 were known to have had postmortems). Increasingly, diagnosis was made using genetic studies. Sixty-one per cent (157 of 259) of the diseases were inborn errors of metabolism, affecting 78% of diagnosed children. There were 43 lysosomal diseases.

Interpretation: This unique epidemiological study of many rare childhood neurodegenerative diseases provides valuable practical information about the presentation, clinical features, and inheritance of these complex disorders.

The Gross Motor Function Measure (GMFM) is a tool that evaluates motor abilities. The GMFM is the gold standard for assessing gross motor skills in cerebral palsy (CP), but in recent years, it has been widely used for various other conditions. We looked at whether the GMFM is reliable when used for children with conditions other than CP and examined how widely it is being used.

We reviewed 210 studies that used the GMFM in children with various conditions other than CP.

Measurement properties (how well the tool works) were properly tested in only eight conditions: acquired brain injury, spinal muscular atrophy, Fukuyama congenital muscular dystrophy, Down syndrome, osteogenesis imperfecta, acute lymphoblastic leukemia, leukodystrophy, and Pompe disease. Even for these conditions, evidence quality was low due to small sample sizes and methodological problems.

Most concerning was the lack of content validity examination. This means checking whether the GMFM items can appropriately assess motor abilities in children with each specific condition. This basic step was completed for only one of the eight conditions (acute lymphoblastic leukemia). Several modified GMFM versions exist for different conditions, but most lack proper validation.

Despite limited validation, widespread use continues. Over 75% of studies used the GMFM to evaluate treatment effectiveness, even for conditions where validity had not been established.

Currently, healthcare providers should interpret GMFM results cautiously when assessing children with conditions other than CP. Future research should examine content validity for each condition where the GMFM is used, improve study quality, and develop standardized reporting guidelines.