P.052 Benign spasms of infancy - a mimicker of infantile epileptic disorders

Background: Benign spasms of infancy (BSI), previously described as benign non-epileptic infantile spasms or benign myoclonus of early infancy, are non-epileptic movements manifesting during the first year of life and spontaneously resolving in the second year of life. BSI are characterized by spasms typically lasting 1-2 seconds, involving to varying degrees the head, neck, trunk, shoulders and upper extremities. Ictal and interictal EEG recordings are normal. BSI are not associated with developmental retardation and do not require treatment. Distinction between BSI and infantile epileptic disorders, such as epileptic spasms or myoclonic epilepsy of infancy, can be challenging given the clinical similarities. Moreover, interictal EEGs can be normal in all conditions. Epileptic spasms and myoclonic epilepsy require timely treatment to improve neurodevelopmental outcomes. Methods: We describe a 6-month old infant presenting with spasm-like movements. His paroxysms as well as a positive family history for epileptic spasms were in keeping with a likely diagnosis of West syndrome. Results: Surprisingly, ictal video EEG did not reveal epileptiform activity, and suggested a diagnosis of BSI. Conclusions: We emphasize that ictal EEG is the gold standard for classification of infantile paroxysms as either epileptic or non-epileptic, thereby avoiding overtreatment of BSI and facilitating timely targeted treatment of infantile epilepsies.

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Epilepsy combined with Wolf-Hirschhorn syndrome: a literature review and description of clinical cases

Epilepsia and paroxyzmal conditions ◽

10.17749/2077-8333.2018.10.4.039-052 ◽

2019 ◽

Vol 10 (4) ◽

pp. 39-52

Author(s):

M. B. Mironov ◽

N. V. Chebanenko ◽

S. O. Ayvazyan ◽

S. A. Vladimirova ◽

K. V. Osipova ◽

...

Keyword(s):

Epileptiform Activity ◽

Epileptic Seizures ◽

Febrile Seizures ◽

First Year ◽

Eeg Activity ◽

Epileptic Spasms ◽

High Incidence ◽

Clonic Seizures ◽

First Year Of Life ◽

Patients With Epilepsy

This article presents the anamnestic, clinical, electro-encephalographic and neuroimaging findings in 5 patients with epilepsy combined with Wolf-Hirschhorn syndrome (WHS). According to our data and the results of others, this combination has its specific characteristics. These include: a high incidence of epilepsy in patients with WHS (50-100% of cases), an early debut of seizures (mainly in the first year of life), fever-provoked seizures, and a variety of seizure types – focal paroxysms, bilateral tonic-clonic seizures, atypical febrile seizures, atypical absences and epileptic spasms. In addition, there may be frequent epileptic seizures tending toward status epilepticus, a slowing of the major EEG activity, a local EEG slowing (mainly in the posterior and bi-frontal areas), and regional / multiregional epileptiform activity. In more than 50% of cases, the diffuse peakwave activity is observed; the broad spectrum anti-epileptic drugs are highly efficient in 80% of cases. Based on this study, we propose recommendations for the management of patients with epilepsy combined with WHS.

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DOZ047.81: Neurodevelopmental outcome in infants with AE: developmental trajectories in the first year of life

Diseases of the Esophagus ◽

10.1093/dote/doz047.81 ◽

2019 ◽

Vol 32 (Supplement_1) ◽

Author(s):

F Bevilacqua ◽

B Ragni ◽

L Valfrè ◽

A Conforti ◽

A Braguglia ◽

...

Keyword(s):

Risk Factors ◽

Mechanical Ventilation ◽

Motor Development ◽

Developmental Trajectories ◽

Neurodevelopmental Outcome ◽

First Year ◽

Neurodevelopmental Outcomes ◽

Prospective Longitudinal Study ◽

First Year Of Life ◽

Prospective Longitudinal

Abstract Background Esophageal atresia (EA) prognosis have improved significantly over the past three decades. Research and clinical attention has shifted to neurodevelopmental outcomes and quality of life. Aim The aim of this study wasto examine neurodevelopmental outcomes and to identify clinical and sociodemographic risk factors in a cohort of infants with EA. Methods An observational prospective longitudinal study was conducted between 2009 and 2017. Neurodevelopment was assessed at 6 and 12 months by Bayley Scales of Infants and Toddler Development—3rd Edition. Clinical and sociodemographic variables included were gender, birthweight, gestational age, associated malformations, number of hospitalizations, surgeries and dilatations at 12 months, days of mechanical ventilation, parental age, education level, and socioeconomic status. Results Ninety-six infants were enrolled in the study at 6 months and 73 of them were evaluated also at 12 months. Analysis showed significant differences between motor development at 6 and 12 months (M6 = 95.39, SD = 15.71; M12 = 91.83, SD = 12.87; t = 0.245, P = 0.017); significant differences emerged also between cognitive development at 6 and 12 months (M6 = 91.80, SD = 11.70; M12 = 100.92, SD = 15.39; t = −5.10, p = .000). Infants with long-gap AE achieved the worst scores in cognitive (r = -.28, P < .01) and motor scales (r = -.36, P < .01) at 6 months and in motor scale at 12 months (r = −0.30, P < 0.05). More days of mechanical ventilation were related to a lower score in both the cognitive (6 months r = −0.26, P < 0.05; 12 months r = −0.26, P < 0.05) and motor scale (6 months: r = −0.38, P < 0.01; 12 months r = −0.42, P < 0.01). A major number of interventions in the first year of life were related to lower scores in the motor scale at 12 months (r = −0.43, P < 0.01). Conclusions Infants operated on for AE are at risk of neurodevelopmental impairment in the first year of life. Findings support the association between neurodevelopmental outcomes and clinical risk factors. Careful interdisciplinary follow-up is essential for early detection of neurodevelopmental delay.

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Kleefstra syndrome and epilepsy

Russian Journal of Child Neurology ◽

10.17650/2073-8803-2019-14-4-32-37 ◽

2020 ◽

Vol 14 (4) ◽

pp. 32-37

Author(s):

R. G. Gamirova ◽

N. G. Lyukshina ◽

R. R. Gamirova ◽

M. E. Farnosova

Keyword(s):

Autosomal Dominant ◽

Genetic Disorder ◽

Underlying Disease ◽

Congenital Defects ◽

First Year ◽

Intellectual Deficiency ◽

Pharmacoresistant Epilepsy ◽

Epileptic Spasms ◽

Kleefstra Syndrome ◽

First Year Of Life

Kleefstra syndrome is a rare autosomal dominant genetic disorder caused by haploinsufficiency of the EHMT1 (Euchromatic Histone MethylTransferase 1). Patients with Kleefstra syndrome have following most common symptoms: moderate or severe intellectual deficiency, absence of speech, significant diffuse muscular hypotonia, micro-brachycephaly, congenital defects of heart, kidneys, genitourinary tract and recognizable dysmorphic features of face. The article presents 2 similar clinical cases of Kleefstra syndrome in combination with epilepsy. Both patients, along with a typical clinical picture of the underlying disease, have serial epileptic spasms with an onset after first year of life, modified hypsarrhythmia with tendency to synchronization on the electroencephalogram, pharmacoresistant epilepsy. This indicates that Kleefstra syndrome can include epilepsy as one of symptoms of the disease.

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Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant

La Pediatria Medica e Chirurgica ◽

10.4081/pmc.2014.100 ◽

2014 ◽

Vol 36 (5-6) ◽

Author(s):

A. Berio ◽

G. Mangiante ◽

A. Piazzi

Keyword(s):

Corticosteroid Treatment ◽

Lymphoproliferative Disease ◽

Myoclonic Epilepsy ◽

First Year ◽

Costal Margin ◽

Autoimmune Lymphoproliferative Syndrome ◽

Lymphoproliferative Syndrome ◽

Severe Myoclonic Epilepsy ◽

First Year Of Life ◽

Myoclonic Epilepsy Of Infancy

The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD). A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutropenia, dysgammaglobulinemia, relative and sometimes absolute lymphocytosis. Subsequently the patient presented with constantly raised IgA in serum and positive antinuclear and thyroid antimicrosomal antibodies. The diagnosis of probable autoimmune lymphoproliferative syndrome was made; arthritis, skin and throat blisters, which appeared subsequently led to the diagnosis of linear IgA disease. On the basis of these unique associations, the Authors hypothesized that autoimmunity may be partly responsible of the severe epileptic symptomatology, perhaps mediated by autoantibodies against sodium channels or by accompanying cytotoxic T-lymphocytes. Corticosteroid treatment ameliorated the epilepsy and laboratory tests. Future studies will be necessary to evaluate the relevance of autoimmunity in SMEI.

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Multifractal Analysis and Relevance Vector Machine-Based Automatic Seizure Detection in Intracranial EEG

International Journal of Neural Systems ◽

10.1142/s0129065715500203 ◽

2015 ◽

Vol 25 (06) ◽

pp. 1550020 ◽

Cited By ~ 67

Author(s):

Yanli Zhang ◽

Weidong Zhou ◽

Shasha Yuan

Keyword(s):

Multifractal Analysis ◽

Detection System ◽

Transient Behavior ◽

Seizure Detection ◽

Relevance Vector Machine ◽

Detection Technology ◽

Ictal Eeg ◽

Interictal Eeg ◽

Eeg Recordings ◽

Event Based

Automatic seizure detection technology is of great significance for long-term electroencephalogram (EEG) monitoring of epilepsy patients. The aim of this work is to develop a seizure detection system with high accuracy. The proposed system was mainly based on multifractal analysis, which describes the local singular behavior of fractal objects and characterizes the multifractal structure using a continuous spectrum. Compared with computing the single fractal dimension, multifractal analysis can provide a better description on the transient behavior of EEG fractal time series during the evolvement from interictal stage to seizures. Thus both interictal EEG and ictal EEG were analyzed by multifractal formalism and their differences in the multifractal features were used to distinguish the two class of EEG and detect seizures. In the proposed detection system, eight features (α0, αmin, αmax, Δα, f(α min ), f(α max ), Δf and R) were extracted from the multifractal spectrums of the preprocessed EEG to construct feature vectors. Subsequently, relevance vector machine (RVM) was applied for EEG patterns classification, and a series of post-processing operations were used to increase the accuracy and reduce false detections. Both epoch-based and event-based evaluation methods were performed to appraise the system's performance on the EEG recordings of 21 patients in the Freiburg database. The epoch-based sensitivity of 92.94% and specificity of 97.47% were achieved, and the proposed system obtained a sensitivity of 92.06% with a false detection rate of 0.34/h in event-based performance assessment.

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Neurologist, 11 years’ experience, USA

Non-Epileptic Seizures in Our Experience ◽

10.1093/med/9780190927752.003.0023 ◽

2020 ◽

pp. 63-67

Author(s):

Markus Reuber ◽

Gregg H. Rawlings ◽

Steven C. Schachter

Keyword(s):

Epileptiform Activity ◽

Epileptic Seizures ◽

Clinical Value ◽

Interictal Eeg ◽

Eeg Recordings ◽

Patients With Epilepsy ◽

Present Possibility ◽

Epilepsy Monitoring

This chapter focuses on the clinical value of continued vigilance and neurologic follow-up after video-EEG (VEEG) confirmation of the diagnosis of Psychogenic Non-Epileptic Seizures (PNES), even when long-term EEG recordings over two separate admissions to an epilepsy monitoring unit have not captured any epileptiform activity. It has been shown that 19% of patients with epilepsy will not have interictal epileptiform abnormality during an admission for long-term VEEG monitoring. In particular, patients with extratemporal lobe epilepsies who have deep/mesial seizure foci and those with well-controlled epilepsies will be likely not to have epileptiform interictal EEG activity. In consideration of these observations, it has been advised that patients with PNES and non-epileptiform long-term EEG recordings should be followed by a neurologist for at least six months after discontinuation of antiepileptic drugs (AED). This consideration is due to the small but ever-present possibility of coexisting epilepsy as well as the observation that the risk of breakthrough epileptic seizures is highest during the initial six months after discontinuation of AEDs.

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Adult EEG

Clinical Neurophysiology ◽

10.1093/med/9780190259631.003.0006 ◽

2016 ◽

pp. 97-109

Author(s):

Katherine H. Noe ◽

Joseph F. Drazkowski

Keyword(s):

Epileptiform Activity ◽

Sharp Waves ◽

Epileptiform Discharges ◽

Inappropriate Treatment ◽

Delta Activity ◽

Epilepsy Diagnosis ◽

Interictal Eeg ◽

Eeg Recordings ◽

Rhythmic Delta Activity ◽

Normal Background

Epileptiform discharges present on routine EEG recordings highly correlate with a tendency for clinical seizures. When present, they can help confirm a diagnosis of epilepsy and classify epilepsy type, localization, and syndrome. EEG’s sensitivity for detecting epileptiform activity depends on many factors, including the site of seizure origin and seizure frequency. Even in persons with known epilepsy, a routine EEG can often be normal; thus a normal interictal EEG should not be used to exclude an epilepsy diagnosis. Misinterpretation or “over-reading” of artifacts and normal background activity on the EEG as epileptiform is common by inexperienced readers. Unfortunately, this can lead to misdiagnosis and inappropriate treatment. The EEG reader should be familiar with the commonly encountered epileptiform patterns of generalized spike and wave, generalized slow spike and wave, generalized paroxysmal fast activity, focal spike and sharp waves, and temporal intermittent rhythmic delta activity.

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Development of neural perceptual vowel spaces during the first year of life

Scientific Reports ◽

10.1038/s41598-019-55085-y ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 1

Author(s):

Kathleen M. McCarthy ◽

Katrin Skoruppa ◽

Paul Iverson

Keyword(s):

First Year ◽

Neural Responses ◽

Spectral Changes ◽

Perceptual Maps ◽

Vowel Space ◽

English Vowels ◽

Eeg Recordings ◽

Phonetic Contrasts ◽

Acoustic Change Complex ◽

First Year Of Life

AbstractThis study measured infants’ neural responses for spectral changes between all pairs of a set of English vowels. In contrast to previous methods that only allow for the assessment of a few phonetic contrasts, we present a new method that allows us to assess changes in spectral sensitivity across the entire vowel space and create two-dimensional perceptual maps of the infants’ vowel development. Infants aged four to eleven months were played long series of concatenated vowels, and the neural response to each vowel change was assessed using the Acoustic Change Complex (ACC) from EEG recordings. The results demonstrated that the youngest infants’ responses more closely reflected the acoustic differences between the vowel pairs and reflected higher weight to first-formant variation. Older infants had less acoustically driven responses that seemed a result of selective increases in sensitivity for phonetically similar vowels. The results suggest that phonetic development may involve a perceptual warping for confusable vowels rather than uniform learning, as well as an overall increasing sensitivity to higher-frequency acoustic information.

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Developmental dysplasia of the hip

Orthopedic Reviews ◽

10.4081/or.2010.e19 ◽

2010 ◽

Vol 2 (2) ◽

pp. 19 ◽

Cited By ~ 42

Author(s):

Shahryar Noordin ◽

Masood Umer ◽

Kamran Hafeez ◽

Haq Nawaz

Keyword(s):

Positive Family History ◽

Breech Presentation ◽

Developmental Dysplasia ◽

Diagnostic Methods ◽

Careful Examination ◽

First Year ◽

Older Children ◽

Hip Abduction ◽

First Year Of Life ◽

Dysplasia Of The Hip

Developmental dysplasia of the hip (DDH) is a spectrum of anatomical abnormalities of the hip joint in which the femoral head has an abnormal relationship with the acetabulum. Most studies report an incidence of 1 to 34 cases per 1,000 live births and differences could be due to different diagnostic methods and timing of evaluation. Risk factors include first born status, female sex, positive family history, breech presentation and oligohydramnios. Clinical presentations of DDH depend on the age of the child. Newborns present with hip instability, infants have limited hip abduction on examination, and older children and adolescents present with limping, joint pain, and/or osteoarthritis. Repeated, careful examination of all infants from birth and throughout the first year of life until the child begins walking is important to prevent late cases. Provocative testing includes the Barlow and Ortolani maneuvers. Other signs, such as shorting of the femur with hips and knees flexed (Galeazzi sign), asymmetry of the thigh or gluteal folds, and discrepancy of leg lengths are potential clues. Treatment depends on age at presentation and outcomes are much better when the child is treated early, particularly during the first six months of life.

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The Development of Swallowing Respiratory Coordination

Perspectives on Swallowing and Swallowing Disorders (Dysphagia) ◽

10.1044/sasd18.1.19 ◽

2009 ◽

Vol 18 (1) ◽

pp. 19-24

Author(s):

Maggie-Lee Huckabee

Keyword(s):

Cortical Activation ◽

First Year ◽

Healthy Children ◽

Nasal Airflow ◽

Single Session ◽

Primary Finding ◽

Patterns Of Behavior ◽

Cortical Modulation ◽

First Year Of Life ◽

Swallowing Apnea

Abstract Research exists that evaluates the mechanics of swallowing respiratory coordination in healthy children and adults as well and individuals with swallowing impairment. The research program summarized in this article represents a systematic examination of swallowing respiratory coordination across the lifespan as a means of behaviorally investigating mechanisms of cortical modulation. Using time-locked recordings of submental surface electromyography, nasal airflow, and thyroid acoustics, three conditions of swallowing were evaluated in 20 adults in a single session and 10 infants in 10 sessions across the first year of life. The three swallowing conditions were selected to represent a continuum of volitional through nonvolitional swallowing control on the basis of a decreasing level of cortical activation. Our primary finding is that, across the lifespan, brainstem control strongly dictates the duration of swallowing apnea and is heavily involved in organizing the integration of swallowing and respiration, even in very early infancy. However, there is evidence that cortical modulation increases across the first 12 months of life to approximate more adult-like patterns of behavior. This modulation influences primarily conditions of volitional swallowing; sleep and naïve swallows appear to not be easily adapted by cortical regulation. Thus, it is attention, not arousal that engages cortical mechanisms.

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