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.

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.

Diagnosis of Bilirubin Encephalopathy in Preterm Infants with Dyskinetic Cerebral Palsy.

INTRODUCTION: Very preterm infants are susceptible to bilirubin neurotoxicity, the signs of which are unclear during early infancy. We investigated children born preterm and later diagnosed with bilirubin encephalopathy (BE) to gain insights into accurate early diagnosis. METHODS: We identified 93 children born preterm and clinically diagnosed with BE who visited our hospital between 2006 and 2018. Perinatal history, findings of auditory brainstem response (ABR), brain magnetic resonance imaging (MRI), and functional outcomes were investigated retrospectively based on chart review. RESULTS: The mean gestational age and birth weights were 27.2 weeks and 991 g, respectively. During the neonatal period, only 3% (2/71) had exchange transfusions, and none were diagnosed with acute BE. ABR was abnormal in 64% (51/80), but the majority (34/51) required no hearing aids. Brain MRI taken between 6 and 18 months of age revealed bilateral T2 hyperintensity of the globi pallidi in 91% (60/66); subsequently, the rate decreased with age. Functional communication outcomes were markedly superior to gross motor and hand function outcomes. CONCLUSION: For early diagnosis of BE, brain MRI is recommended at a corrected age of between 6 and 18 months, especially for those with abnormal ABR during early infancy, and even with no apparent history of marked neonatal hyperbilirubinemia.