Childhood-onset epilepsy in patients with dyskinetic cerebral palsy caused by basal ganglia and thalamic lesions.

OBJECTIVE: To elucidate the incidence and outcomes of childhood-onset epilepsy and associated factors in term-born patients with basal ganglia and thalamic lesion (BGTL)-induced dyskinetic cerebral palsy (DCP) caused by perinatal hypoxic-ischemic encephalopathy (HIE). METHODS: We studied 104 term-born patients with BGTL-induced DCP (63 males and 41 females, aged 2-22 years) to investigate the incidence of epilepsy and the factors related to its development. We used multivariate analysis to assess perinatal factors, gross motor function, and the extent of brain lesions. We also investigated the seizure onset, clinical course, and electroencephalography (EEG) characteristics. RESULTS: The cumulative epilepsy incidence was 36%. Multiple logistic regression analysis revealed that deep white matter lesions were the only independent risk factor for epilepsy. The confirmed seizure types included epileptic spasms (ES, n = 13), myoclonic seizures (MS, n = 6), and focal-onset seizures (FS, n = 24). Only patients with deep white matter lesions exhibited ES or MS. The symptoms of FS resembled those of self-limited epilepsy with centrotemporal spikes; however, only half of the patients reached remission by the time of investigation, and four patients had more than one seizure per month despite appropriate drug therapy. Focal spikes in the peri-rolandic area were detected not only in patients with FS but also in half of the patients without epilepsy. CONCLUSIONS: One-third of term-born patients with BGTL-induced DCP caused by perinatal HIE develop epilepsy, and deep white matter lesions increase the likelihood of epilepsy. Preparation for early-onset ES, MS, and subsequent FS is beneficial.

Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.

OBJECTIVE: This study aimed to establish an optional newborn screening program for spinal muscular atrophy (SMA-NBS) in Osaka. METHODS: A multiplex TaqMan real-time quantitative polymerase chain reaction assay was used to screen for SMA. Dried blood spot samples obtained for the optional NBS program for severe combined immunodeficiency, which covers about 50% of the newborns in Osaka, were used. To obtain informed consent, participating obstetricians provided information about the optional NBS program to all parents by giving leaflets to prospective parents and uploading the information onto the internet. We prepared a workflow so that babies that were diagnosed with SMA through the NBS could be treated immediately. RESULTS: From 1 February 2021 to 30 September 2021, 22,951 newborns were screened for SMA. All of them tested negative for survival motor neuron (SMN)1 deletion, and there were no false-positives. Based on these results, an SMA-NBS program was established in Osaka and included in the optional NBS programs run in Osaka from 1 October 2021. A positive baby was found by screening, diagnosed with SMA (the baby possessed 3 copies of the SMN2 gene and was pre-symptomatic), and treated immediately. CONCLUSION: The workflow of the Osaka SMA-NBS program was confirmed to be useful for babies with SMA.

Functional outcomes of children with dyskinetic cerebral palsy depend on etiology and gestational age.

OBJECTIVE: To elucidate the differences in etiology of dyskinetic cerebral palsy (DCP) between term-born and preterm-born children and its relationship to functional outcomes. METHODS: We determined the etiology of DCP based on the clinical course and brain MRI of 163 term-born and 136 preterm-born children. Information about genetic abnormality was also collected if available. Functional outcomes were compared between the two major etiologies in each group, i.e., hypoxic ischemic encephalopathy (HIE) and bilirubin encephalopathy (BE), using four standardized classification systems, i.e., Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Communication Function Classification System (CFCS), and Eating and Drinking Ability Classification System (EDACS). RESULTS: The most common etiologies were HIE (123/163) in term-born and BE (93/136) in preterm-born children. Genetic mutations were identified in 14 of 30 term-born children with no other known etiology. GMFCS levels of the preterm children with BE were significantly poorer than those of term children with HIE (p < 0.01). Both the CFCS and EDACS levels were significantly better in preterm children with BE than in term children with HIE (p < 0.01). CONCLUSION: The most common etiology of DCP is different between term-born and preterm-born children, and the distribution of functional impairment is significantly influenced by etiology and gestational age. The difference should be taken into consideration to allow the provision of adequate interventions.

A questionnaire survey on the efficacy of various treatments for dyskinetic cerebral palsy due to preterm bilirubin encephalopathy.

OBJECTIVES: Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS: A mail questionnaire was administered to the caregivers of 67 children with preterm bilirubin encephalopathy aged >4 years. We asked about the type of treatments they received and their efficacy using a five-point subjective scale for the following five domains: motor function, postural stability, sleep, pain, and care burden. The names of oral drugs and their efficacies were also explored. RESULTS: The response rate of the questionnaires was 62.7% (42/67), and we analysed the results from 41 validated cases. All children underwent rehabilitation. A total of 30 children received oral drugs, 22 botulinum toxin, 12 orthopaedic surgery, and 3 intrathecal baclofen. Each of these treatments was subjectively reported to be effective in more than half of the recipients for each of the five domains, whereas 23 (56%) required more than two types of treatments other than rehabilitation. Chlordiazepoxide was the most commonly used oral drug, by 28 children (68%), and was discontinued in 7 patients (25%) only. In the sleep domain, the rate of a positive effect was significantly higher for oral drugs (92.7%) than the other treatments (p < 0.01). CONCLUSION: All treatments were partially effective, but their appropriate combination based on a multidisciplinary approach is essential for muscle tone management in children with preterm bilirubin encephalopathy.

Ultrasound-guided peripheral intravenous access placement for children in the emergency department.

The usefulness of ultrasound guidance in peripheral intravenous access placement has yet to be established in children. In this prospective comparative study, we investigated success rates of intravenous access placement with ultrasound guidance in a pediatric emergency department. After a failed first attempt with the conventional technique, the second and third attempts were conducted using either the ultrasound guidance (a real-time, dual operator method) or the conventional technique. The success rates within the two interventional attempts were then compared. From a total of 712 participants, those with a failed first attempt were allocated to the ultrasound guidance (n = 99) and conventional technique (n = 100) groups. The success rate was significantly lower for the ultrasound guidance (65%) than for the conventional technique (84%) group (p = 0.002, chi-square test). This remained significant after adjusting for confounders with multiple logistic regression analysis (odds ratio 2.60, 95% confidence interval 1.26-5.37, p = 0.001). CONCLUSION: Ultrasound-guided intravenous access placement using a real-time, dual operator method led to a significantly lower success rate than the conventional technique in children with one failed conventional attempt in the emergency department. TRIAL REGISTRATION: UMIN000014730 What is Known: • Children experience a low success rate (about 60% with 1 attempt and about 90% with 4 attempts) for IV access placement. • Ultrasound guidance may lead to a decreased number of attempts and shorter procedural time with comparable overall IV success rate. What is New: • Ultrasound-guided IV placement (a real-time, dual operator method) actually led to a significantly lower IV success rate than the conventional technique in children in the emergency department. • Our result warrants further trials to determine the precise population who benefits from ultrasound guidance.