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Simona Gulbinaitė

As a neuroscientist I think it is important to know the symptoms of most common childhood disorders.


The most common signs and symptoms to look out for in childhood epilepsy.

In 10 seconds? Epilepsy is known to be associated with disorders that affect brain function, however 60% of epilepsies in children have no known cause and are reffered to as primary generalised seizures.

Don’t believe it? Epilepsy can occur in children due to various abnormalities in the brain, such as changes in structural integrity, including brain injury, brain tumours and lesions, and chemical changes; where the metabolism of certain chemicals is impaired. Children may also have primary generalised epilepsy with no apparent cause. Although the majority of children have normal development prior to seizures, 50% will develop learning difficulties. The type of epilepsy is diagnosed by the kind of seizures, the age when they started and electrical brain activity during it (this can be recorded using EEG).

If a child is having seizures does that mean they have epilepsy?

If your child has had a seizure, this does not necessarily mean that they have epilepsy. For example, febrile seizures which present with stiffness and twitching of the arms and legs are caused by fever, usually greater than 38°C. It is the most common type of seizure in children aged 3 months to 5 years. Children may also have psychogenic non-epileptic seizures (PNES) which present with episodes of abnormal movement, sensations, or cognitive experiences similar to epilepsy. PNES are not accompanied by abnormal electrical discharges in the brain and therefore are not epileptic. Multiple studies show that PNES occurs in 1-9% of the children with suspected epilepsy.

What are the most common childhood epilepsies?

Rolandic epilepsy – It is a benign focal epilepsy that occurs in 15-20% of childhood epilepsies. Simple focal seizures that affect sensations in the face, arrest speech and increase saliva production usually presents during sleep or just before waking up. In some cases it may develop into a fully convulsive episode.

Childhood absence epilepsy (CAE) – CAE affects up to 12% of children with epilepsy. It presents with absence seizures during which a child becomes unconscious. These seizures occur frequently but last only a few seconds, therefore they often go unnoticed.

Juvenile myoclonic epilepsy (JME) – This type of epilepsy accounts for 5-10% of all epilepsy cases. It is characterised by three types of seizures; tonic-clonic, absence and myoclonic jerks. They usually occur upon wakening, but can also be triggered by flickering light and alcohol.


Childhood absence epilepsy: behavioral, cognitive, and linguistic comorbidities.

Abstract: Evidence for a poor psychiatric, social, and vocational adult outcome in childhood absence epilepsy (CAE) suggests long-term unmet mental health, social, and vocational needs. This cross-sectional study examined behavioral/emotional, cognitive, and linguistic comorbidities as well as their correlates in children with CAE.Sixty-nine CAE children aged 9.6 (SD = 2.49) years and 103 age- and gender-matched normal children had semistructured psychiatric interviews, as well as cognitive and linguistic testing. Parents provided demographic, seizure-related, and behavioral information on their children through a semi-structured psychiatric interview and the child behavior checklist (CBCL).Compared to the normal group, 25% of the CAE children had subtle cognitive deficits, 43% linguistic difficulties, 61% a psychiatric diagnosis, particularly attention deficit hyperactivity disorder (ADHD) and anxiety disorders, and 30% clinically relevant CBCL broad band scores. The most frequent CBCL narrow band factor scores in the clinical/borderline range were attention and somatic complaints, followed by social and thought problems. Duration of illness, seizure frequency, and antiepileptic drug (AED) treatment were related to the severity of the cognitive, linguistic, and psychiatric comorbidities. Only 23% of the CAE subjects had intervention for these problems.The high rate of impaired behavior, emotions, cognition, and language and low intervention rate should alert clinicians to the need for early identification and treatment of children with CAE, particularly those with longer duration of illness, uncontrolled seizures, and AED treatment.

Pub.: 19 Jun '08, Pinned: 15 May '17

Benign childhood focal epilepsies: assessment of established and newly recognized syndromes.

Abstract: A big advance in epileptology has been the recognition of syndromes with distinct aetiology, clinical and EEG features, treatment and prognosis. A prime and common example of this is rolandic epilepsy that is well known by the general paediatricians for over 50 years, thus allowing a precise diagnosis that predicts an excellent prognosis. However, rolandic is not the only benign childhood epileptic syndrome. Converging evidence from multiple and independent clinical, EEG and magnetoencephalographic studies has documented Panayiotopoulos syndrome (PS) as a model of childhood autonomic epilepsy, which is also common and benign. Despite high prevalence, lengthy and dramatic features, PS as well as autonomic status epilepticus had eluded recognition because emetic and other ictal autonomic manifestations were dismissed as non-epileptic events of other diseases. Furthermore, PS because of frequent EEG occipital spikes has been erroneously considered as occipital epilepsy and thus confused with the idiopathic childhood occipital epilepsy of Gastaut (ICOE-G), which is another age-related but rarer and of unpredictable prognosis syndrome. Encephalitis is a common misdiagnosis for PS and migraine with visual aura for ICOE-G. Pathophysiologically, the symptomatogenic zone appears to correspond to the epileptogenic zone in rolandic epilepsy (sensory-motor symptomatology of the rolandic cortex) and the ICOE-G (occipital lobe symptomatology), while the autonomic clinical manifestations of PS are likely to be generated by variable and widely spread epileptogenic foci acting upon a temporarily hyperexcitable central autonomic network. Rolandic epilepsy, PS, ICOE-G and other possible clinical phenotypes of benign childhood focal seizures are likely to be linked together by a genetically determined, functional derangement of the systemic brain maturation that is age related (benign childhood seizure susceptibility syndrome). This is usually mild but exceptionally it may diverge to serious epileptic disorders such as epileptic encephalopathy with continuous spike and wave during sleep. Links with other benign and age-related seizures in early life such as febrile seizures, benign focal neonatal and infantile seizures is possible. Overlap with idiopathic generalized epilepsies is limited and of uncertain genetic significance. Taking all these into account, benign childhood focal seizures and related epileptic syndromes would need proper multi-disciplinary re-assessment in an evidence-based manner.

Pub.: 23 Aug '08, Pinned: 15 May '17

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Abstract: We performed a systematic review of the clinical, molecular, and biochemical features of polymerase gamma (POLG)–related epilepsy and current evidence on seizure management. Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of POLG mutations were considered. Seventy-two articles were included for analysis. We identified 128 pathogenic variants in 372 patients who had POLG-related epilepsy. Among these, 84% of the cases harbored at least one of these pathogenic variants: p.Ala467Thr, p.Trp748Ser, and p.Gly848Ser. A bimodal distribution of disease onset was present in early childhood (<5 years) and adolescence; female patients had a later presentation than male patients (median age 4.00 vs. 1.83 years, p-value = 0.041). Focal-onset seizure including convulsive, myoclonus, and occipital seizures was common at the outset and was refractory to pharmacotherapy. We confirmed that homozygous pathogenic variants located in the linker region of POLG were associated with later age of onset and longer survival compared to compound heterozygous variants. In addition, biochemical and molecular heterogeneities in different tissues were frequently observed. POLG-related epilepsy is clinically heterogeneous, and the prognosis is, in part, influenced by the location of the variants in the gene and the presence of hepatic involvement. Normal muscle and fibroblast studies do no exclude the diagnosis of POLG-related mitochondrial disease and direct sequencing of the POLG gene should be the gold standard when investigating suspected cases.

Pub.: 24 Aug '16, Pinned: 15 May '17

The prevalence of atypical presentations and comorbidities of benign childhood epilepsy with centrotemporal spikes.

Abstract: Benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common epileptic syndrome in childhood. The outcome is usually excellent, but there are some atypical forms of BCECTS with less favorable outcomes. The aim of this study was to delineate the frequency of these atypical features among patients with BCECTS.We conducted a retrospective chart study by retrieving the medical records of all consecutive patients with BCECTS who were evaluated in four pediatric neurology outpatient clinics in Israel between the years 1991 and 2008.A total of 196 patients with BCECTS were identified (78 female and 118 male; mean age at time of diagnosis 7.64 years, range 1.5-14). The mean duration of follow-up was 4.43 years (range 2-11). Nine patients (4.6%) developed electrical status epilepticus in slow waves sleep (ESES) during follow-up, four (2%) had Landau-Kleffner syndrome, three (1.5%) had BCECTS with frequent refractory seizures, two (1%) had BCECTS with falls at presentation, one (0.5%) had a "classic" atypical variant, and one (0.5%) had oromotor dysfunction. None had rolandic status epilepticus. Sixty-one patients (31%) had attention deficit hyperactivity disorder (ADHD), 43 (21.9%) had specific cognitive deficits, and 23 (11.7%) had behavioral abnormalities, including aggressiveness, anxiety disorders, depression, and pervasive developmental disorder (PDD).The prevalence of most atypical forms of BCECTS other than ESES is low. There is, however, a high prevalence of ADHD and specific cognitive deficits among patients with BCECTS.

Pub.: 23 Jun '11, Pinned: 15 May '17

Depression and anxiety disorders in pediatric epilepsy.

Abstract: This study examined affective disorders, anxiety disorders, and suicidality in children with epilepsy and their association with seizure-related, cognitive, linguistic, family history, social competence, and demographic variables.A structured psychiatric interview, mood self-report scales, as well as cognitive and language testing were administered to 100 children with complex partial seizures (CPSs), 71 children with childhood absence epilepsy (CAE), and 93 normal children, aged 5 to 16 years. Parents provided behavioral information on each child through a structured psychiatric interview and behavior checklist.Significantly more patients had affective and anxiety disorder diagnoses (33%) as well as suicidal ideation (20%) than did the normal group, but none had made a suicide attempt. Anxiety disorder was the most frequent diagnosis among the patients with a diagnosis of affective or anxiety disorders, and combined affective/anxiety and disruptive disorder diagnoses, in those with suicidal ideation. Only 33% received some form of mental health service. Age, verbal IQ, school problems, and seizure type were related to the presence of a diagnosis of affective or anxiety disorder, and duration of illness, to suicidal ideation.These findings together with the high rate of unmet mental health underscore the importance of early detection and treatment of anxiety disorders and suicidal ideation children with CPSs and CAE.

Pub.: 29 Apr '05, Pinned: 15 May '17

Psychogenic nonepileptic seizures.

Abstract: This review summarizes the recent studies assessing patients with psychogenic nonepileptic seizures and developments in treatment.The misdiagnosis of nonepileptic seizure is costly to patients, the healthcare system, and to society. Patients with nonepileptic seizures are prescribed antiepileptic drugs that do not treat nonepileptic seizures, have multiple laboratory tests performed, and may not receive the necessary mental healthcare that could benefit them.The first step in nonepileptic seizure treatment is proper diagnosis. Video electroencephalography remains the gold standard for nonepileptic seizure diagnosis. Certain seizure types, such as frontal lobe seizures, may mimic nonepileptic seizure semiology. Bedside observations may augment video electroencephalography to establish nonepileptic seizure diagnosis. The methodology in nonepileptic seizure treatment trials is examined, describing the challenges in conducting clinical trials with patients with overlapping neurologic and psychiatric disorders. Finally, realizing that nonepileptic seizures are in a spectrum of somatoform disorders, diagnostic literature is reviewed in other conversion disorders.Nonepileptic seizure patients remain one of the most challenging populations to diagnose and treat in medical practice. Clinical findings and laboratory advances exist that more clearly establish the diagnosis of nonepileptic seizures. With the appropriate diagnosis, neurologists and mental health providers are better equipped to treat the underlying causes of nonepileptic seizures.

Pub.: 05 Mar '08, Pinned: 15 May '17

Risk factors for psychogenic nonepileptic seizures in children and adolescents with epilepsy.

Abstract: There is evidence that psychogenic nonepileptic seizures (PNES) remain underdiagnosed, especially in children and adolescents. Diagnosis of such events is even more difficult in patients that do have epilepsy, leading to delayed diagnosis and treatment and, consequently, iatrogenic complications. This study aimed to evaluate possible risk factors in children with epilepsy who had PNES. Seizures and epileptic syndromes were classified according to International League Against Epilepsy guidelines. Patients were evaluated with a structured psychiatric anamnesis and classified according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition; Classification of Mental and Behavioral Disorders: Diagnostic Criteria for Research; and Schedule for Affective Disorders and Schizophrenia for School-Age Children--Epidemiological Version. Risk factors such as head trauma, physical, sexual and psychological abuse, and psychiatric diagnoses, among others, were investigated. Family history of epilepsy and psychiatric illness were detected by review of medical records and/or follow-up interviews. Gender was not a predictive factor, and although older children had a higher risk for PNES, younger children also presented truly psychogenic events mimicking epileptic seizures. The most common associated psychiatric diagnosis was depression. Family histories for epilepsy and psychiatric illness were a frequent finding. An inadequate family environment was more common than sexual or physical abuse. Current knowledge obtained from adults with PNES has been used to understand children with PNES. However, this study of children with epilepsy revealed some similarities and many differences. These features may help to identify predictive factors in a population in need of adequate diagnosis of and therapy for this long-lasting pathology.

Pub.: 29 Oct '05, Pinned: 15 May '17

Individual brain structure and modelling predict seizure propagation.

Abstract: See Lytton (doi:10.1093/awx018) for a scientific commentary on this article.Neural network oscillations are a fundamental mechanism for cognition, perception and consciousness. Consequently, perturbations of network activity play an important role in the pathophysiology of brain disorders. When structural information from non-invasive brain imaging is merged with mathematical modelling, then generative brain network models constitute personalized in silico platforms for the exploration of causal mechanisms of brain function and clinical hypothesis testing. We here demonstrate with the example of drug-resistant epilepsy that patient-specific virtual brain models derived from diffusion magnetic resonance imaging have sufficient predictive power to improve diagnosis and surgery outcome. In partial epilepsy, seizures originate in a local network, the so-called epileptogenic zone, before recruiting other close or distant brain regions. We create personalized large-scale brain networks for 15 patients and simulate the individual seizure propagation patterns. Model validation is performed against the presurgical stereotactic electroencephalography data and the standard-of-care clinical evaluation. We demonstrate that the individual brain models account for the patient seizure propagation patterns, explain the variability in postsurgical success, but do not reliably augment with the use of patient-specific connectivity. Our results show that connectome-based brain network models have the capacity to explain changes in the organization of brain activity as observed in some brain disorders, thus opening up avenues towards discovery of novel clinical interventions.

Pub.: 02 Apr '17, Pinned: 15 May '17

Prevalence of juvenile myoclonic epilepsy in people

Abstract: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria.This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age. Subjects diagnosed with JME, unspecified genetic generalized epilepsy, or absence epilepsy were identified. All of these patients were contacted and asked specifically about myoclonic jerks. Electroencephalography (EEG) recordings and medical records were reevaluated for those who confirmed myoclonic jerks. Information about seizure onset was obtained from the medical records, and annual frequency of new cases was estimated.A total of 55 subjects fulfilled the diagnostic criteria for JME. The point prevalence was estimated at 5.6/10,000. JME constituted 9.3% of all epilepsies in the age group we investigated. Of subjects diagnosed with either unspecified genetic generalized epilepsy or absence epilepsy, 21% and 12%, respectively, had JME. We identified 21 subjects with JME (38%) who had not been diagnosed previously. Six subjects (11%) had childhood absence epilepsy evolving into JME. Between 2009 and 2013, the average frequency of JME per 100,000 people of all ages per year was estimated at 1.7.A substantial portion of people with JME seem to go undiagnosed, as was the case for more than one third of the subjects in this study. By investigating subjects diagnosed with unspecified genetic generalized epilepsy or absence epilepsy, we found a prevalence of JME that was considerably higher than previously reported. We conclude that JME may go undiagnosed due to the underrecognition of myoclonic jerks. To make a correct diagnosis, clinicians need to ask specifically about myoclonic jerks.

Pub.: 20 Nov '16, Pinned: 15 May '17