Childhood Absence Epilepsy- Electroclinical Profile and Prevalence of Attention-Deficit/Hyperactivity Disorder Among a Cohort of 47 Children.

BACKGROUND: We aimed to find the proportion of attention-deficit/hyperactivity disorder (ADHD) among children with childhood absence epilepsy (CAE) and to describe their electroclinical features. METHODS: Video electroencephalography (EEG) was performed on 47 children who fulfilled International League Against Epilepsy criteria for CAE. These children were also assessed for the presence of ADHD. RESULTS: Of the 47 children, 27 (57%) met criteria for the diagnosis of ADHD. Majority (74%) of them had inattentive type of ADHD. Age at onset of absences ranged from three to 12 years (mean 7.2 ± 2.47). We analyzed 219 seizures (154 electroclinical and 65 electrographic). The average seizure duration was 7.1 seconds (range 1 to 38 [S.D. 5.81]). Of the 154 clinical absences, ictal discharges were less than or equal to two seconds in nine of 154 (5.8%); greater than two to less than or equal to four seconds in 33 of 154 (21.4%), and longer than 20 seconds in 11 of 154 (7%). The longest duration of ictal discharge recorded was 38 seconds, and the shortest duration was one second. The onset of ictal discharge had a "lead in" focus in 81% (177 of 219). CONCLUSIONS: The proportion of ADHD among children with CAE is high. A "lead in" focus of the generalized ictal discharges was observed frequently, lending support to the theory that the origin of seizure discharges in CAE is indeed cortical. The shortest ictal discharge recorded was one second.

Long-term survival and factors associated with mortality among children with infantile epileptic spasms syndrome - A retrospective cohort study.

BACKGROUND AND OBJECTIVES: The existing literature indicates a higher risk of mortality among children with Infantile epileptic spasms syndrome (IESS). Our aim was to find the mortality pattern and factors that affect survival among children with IESS. METHODS: Children with IESS who had age of onset between one month and 24 months were included. The primary outcome was survival. We used Kaplan-Meier estimates for survival analysis and Cox regression analyses to evaluate possible factors associated with mortality. RESULTS: During the follow-up period (120 months), 19/160 children (11.9%) expired. Three children expired in the first week after initiation of ACTH. There were six deaths (3.8%; 31.6% of deaths), within two years. Clinical findings and laboratory investigations revealed the cause of death to be severe pneumonia in ten children. Three died of severe sepsis. Four died due to metabolic crisis and two children died due to probable Sudden unexpected death in epilepsy (SUDEP). On multivariable analysis, mortality was predicted by 'presence of seizures other than spasms' and an inborn error of metabolism (IEM) as the underlying cause. None of the children in the idiopathic group died. CONCLUSION: Survival in our single center cohort with IESS was good in comparison to previous studies. Considering that pneumonia and sepsis were the most common cause of mortality that we detected, steps for prevention of sepsis might be worth considering in these children. Presence of seizures other than epileptic spasms, and an IEM should prompt the physician to let the family know that risk of mortality is high.

Factors Related to Long Term Motor, Behavioral, and Scholastic Outcome in Children with Acute Disseminated Encephalomyelitis.

OBJECTIVE: We studied the long-term outcome of Acute disseminated encephalomyelitis (ADEM). METHODS: We performed a retrospective cohort study among children diagnosed with ADEM (fulfilling IPMSSG criteria). Major outcome variables were motor deficit, scholastic underperformance, and behavioral abnormality. RESULTS: The inclusion criteria were fulfilled by 102 children. Three died in hospital. The follow-up ranged from one to 10 years (median 4 years). Motor deficit was seen in 17(17.2%), attention deficit in 25 (25.3%), behavioral abnormality in 13(13.1%), persistent seizures in seven (7%) invididuals and poor learning skills in 22 (22.2%). Recurrence of demyelination occurred in seven (7.1%). Two individuals had a recurrent demyelinating disorder (a chronic relapsing demyelinating disorder) that could not be classified as multiple sclerosis (MS), two had ADEM with sequential optic neuritis and three had multiphasic ADEM. At follow-up, the mean (SD) modified Rankin Scale (mRS) score was 0.556 (1.36) and Expanded Disability Status Scale score was 1.71(2.22). On multivariate analysis, the mRS score at discharge (p<0.01) and thalamic lesions on magnetic resonance imaging (MRI) (p<0.01) were associated with motor sequelae; poor learning skills with ADEM with concomitant polyneuropathy (p<0.02); and behavioral abnormality with tumefactive demyelination (p<0.02). CONCLUSIONS: Children who had ADEM may have motor or cognitive sequelae, seizures or recurrent demyelinating events on follow-up. We identified a few risk factors for these sequelae. Factors that affected outcome on discharge from hospital did not affect chances of having long-term sequelae. On follow-up, none of the children fulfilled the diagnostic criteria for MS, suggesting that the chance of conversion of ADEM to MS is less likely.

Short term outcome of ADEM: Results from a retrospective cohort study from South India.

INTRODUCTION: Acute disseminated encephalomyelitis (ADEM), an immune mediated inflammatory disease is common in children. The profile and immediate outcome of children hospitalized with ADEM is scarce in the available literature. OBJECTIVES: We aimed to study the clinical profile of children with ADEM and to look for prognostic factors for outcome at discharge from hospital METHODS: We chose a retrospective cohort study of all children diagnosed with ADEM at our institution between January 2006 and December 2015, and they were evaluated, after excluding other diagnoses when they were summoned for a follow up visit. The major outcome variables were the modified Rankin Scale (mRS), the Kurtzke Expanded Disability Status Scale (EDSS) and the Glasgow outcome score (GOS) RESULTS: There were 102 children (with a mean follow up of 4.81 ± 2.78 years) and mean age at presentation, 6.16 ± 3.1 years. Pyramidal signs, ataxia, fever at onset, brain stem signs, seizures, myelitis and headache were the commoner clinical manifestations. Movement disorders particularly disabling tremor was seen in 12%. Only 52% had MRI lesions confined to supratentorial region, with 20% having thalamic lesions, 14% with corpus callosal lesions and 28% with brain stem hyperintensities. Three patients expired during the acute stage of the disease, the rest recovering with a mean mRS score of 1.92 ± 1.7 and EDSS score of 2.96 ± 3.05. On multivariable regression analysis, using mRS, presence of fever at admission, myelopathy with a definite sensory level and ventilator associated pneumonia were associated with a bad outcome. Using EDSS score (multivariable regression), presence of myelopathy with a definite sensory level and coma were associated with a bad outcome. Using GOS score (multivariable regression), presence of myelitis with a definite sensory level, signs of meningeal irritation and encephalomyeloradiculoneuropathy type of ADEM were associated with a bad outcome and headache with a good prognosis. The mean of the number of hours of altered sensorium and the mean duration of hospital stay in days had a significant association using the mRS, EDSS score and GOS. CONCLUSION: This study shows a profile of ADEM in South Indian children at admission and at discharge from hospital. ADEM has a good immediate outcome though death during the nadir of disease has been recorded in this study and in the literature and effort should be taken for optimal life support for these children who would have a good outcome if life support is successful. We have been able to show that, presence of myelopathy, the mean number of hours of altered sensorium and the mean duration of hospital stay were associated with a bad prognosis using three different outcome scales. Fever at admission, ventilator associated pneumonia, more profound altered sensorium at nadir of disease, signs of meningeal irritation at presentation and lower motor neuron involvement also, during the course of disease were associated with an immediate bad outcome using one of the outcome scores used in our study. Future studies should also address the question of why children with myelopathy, signs of lower motor involvement and fever at onset have a bad immediate outcome.

Infantile spasms: A prognostic evaluation.

BACKGROUND: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. OBJECTIVE: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. MATERIALS AND METHODS: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. RESULTS: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total) children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome - the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH). No predictor could be identified for abnormal psychomotor development. DISCUSSION AND CONCLUSION: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging.

Acute encephalopathy with a lesion of the splenium of the corpus callosum--a report of two cases.

We report two cases of encephalopathy following a short febrile illness. Case one was a five year old child whose magnetic resonance imaging (MRI) of the brain showed a reversible discrete lesion in the splenium of the corpus callosum (SCC) and a ten year old boy who had extensive hyperintensity of the SCC. As these children have presented while there was an outbreak of influenza in our locality and since the second child tested positive for H1N1 antigen on PCR test, we feel that as previous authors have pointed out, these cases are cases of possible influenza encephalopathy. This awareness needs to be disseminated as this specific MRI finding should prompt one to test for H1N1 antigen and offer specific antiviral agent. Case one showed signs that support the existence of a splenial syndrome.

A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy.

Pontocerebellar hypoplasia is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, microcephaly, congenital contractures, polyhydramnios, and respiratory insufficiency leading to death in infancy. Recently, however, the spectrum of this disease has been extended to include less severe variants, some of which are associated with minimal atrophy of the brainstem. In two reported cases of late-onset variant pontocerebellar hypoplasia, the siblings were alive at 9 years and 6 years, respectively, but were severely crippled and anarthric; they had features of anterior horn cell involvement and cerebellar atrophy but the brainstem was spared. The present case is that of a 12-year-old boy with early onset of anterior horn cell involvement and slowly progressive cerebellar ataxia who is still able to walk with support and speak in sentences. He was found to be devoid of the exon 7 and exon 8 deletion of the survival motor neuron gene seen in classical spinal muscular atrophy, and magnetic resonance imaging indicated marked atrophy of the cerebellar vermis and hemispheres, with minimal involvement of the brainstem. This form is apparently the mildest variant of pontocerebellar hypoplasia type 1 described to date.