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Neuropediatrics Aug 2021Vitamin B12 is a water-soluble vitamin that plays a fundamental role as an essential cofactor for two enzymes responsible for the production of succinyl-CoA and...
Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment.
Vitamin B12 is a water-soluble vitamin that plays a fundamental role as an essential cofactor for two enzymes responsible for the production of succinyl-CoA and methionine. Vitamin B12 deficiency can occur in infants and may be related to the breastfeeding mother's adherence to a vegan diet or somatic diseases in the mother. It should be differentiated from inborn errors of vitamin B12 metabolism. Herein, we report the cases of three infants with West syndrome; all three were breastfed by mothers who followed a strict vegan diet. In one of the three infants, West syndrome developed during treatment with vitamin B12 and normalization of the vitamin B12 level. Early treatment and replacement therapy are worthwhile to prevent serious neurological problems and to improve the patient's clinical course.
Topics: Breast Feeding; Female; Humans; Infant; Nervous System Diseases; Spasms, Infantile; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 33657632
DOI: 10.1055/s-0041-1725013 -
Brain & Development Nov 2001In this brief review, the sleep studies on patients with West syndrome (WS) were summarized. In addition to the previously reported common finding for sleep in... (Review)
Review
In this brief review, the sleep studies on patients with West syndrome (WS) were summarized. In addition to the previously reported common finding for sleep in WS--reduction of the amount of rapid-eye-movement (REM) sleep--weakness of phasic suppression of chin muscle activity in WS patients has recently been found. The degree of this weakness is quantified by the phasic inhibition index (PII), which has been found to reflect a patient's prognosis as to convulsions. PII is proposed to be a useful parameter for assessing the prognosis of WS. Since the pontine tegmentum is involved in the production of the REM-related phasic loss of muscle activity in REM sleep, WS patients are hypothesized to have a functional instability of the pontine tegmentum. After adrenocorticotropin (ACTH) treatment, PII decreased significantly in all WS patients examined. Taken together with the effects of corticosteroids on PII, and the incidence of phasic chin muscle activity in patients with congenital adrenal hyperplasia and nephrotic syndrome, ACTH is hypothesized to suppress the spasms in WS patients not only through corticosteroids, but also through a direct action on the pontine tegmentum. Since PII has been reported to be elevated in patients with an autistic tendency, the appearance of an autistic tendency is also hypothesized to be involved in the functional disturbance of the pontine tegmentum.
Topics: Brain; Humans; Infant; Polysomnography; Spasms, Infantile
PubMed: 11701248
DOI: 10.1016/s0387-7604(01)00309-6 -
Indian Journal of Pediatrics Aug 2022To determine epilepsy and neurodevelopmental outcomes beyond 2 y of age and their putative prognostic factors in children with West syndrome (WS).
OBJECTIVE
To determine epilepsy and neurodevelopmental outcomes beyond 2 y of age and their putative prognostic factors in children with West syndrome (WS).
METHODS
This cross-sectional study was initiated after approval from Institutional Ethics Committee. A follow-up cohort of 114 children (aged ≥ 2 y) diagnosed and treated for WS at the authors' center were assessed in-person for epilepsy and neurodevelopmental outcomes using Vineland Social Maturity Scale - Malin's adaptation for Indian children. Subsequently, age at onset, lead-time-to-treatment, etiology, and response to any of the standard therapies were analyzed as possible predictors of these outcomes.
RESULTS
Of 114 children (mean age: 55 ± 32 mo, 91 boys), structural etiology was the predominant underlying etiology (79.8%) for WS. At 2 y of age, 64% had ongoing seizures. At the last follow-up, 76% had social quotient < 55, and 39% had cerebral palsy (spastic quadriparesis in 21%). An underlying structural etiology was associated with ongoing seizures [OR (95% CI) 3.5 (1.4-9); p = 0.008] at 2 y of age and poor developmental outcomes [OR (95% CI): 3.3 (1.3-8.9); p = 0.016]. Complete cessation of spasms with the standard therapy was significantly associated with better seizure control [OR (95% CI): 5.4 (2.3-13); p < 0.001] and neurodevelopmental outcome [OR (95% CI): 5.2 (1.8-14.9); p < 0.001].
CONCLUSION
The majority of children with WS have a poor neurodevelopmental outcome and epilepsy control on follow-up. The underlying etiology and response to initial standard therapy for epileptic spasms have a prognostic role in predicting the neurological outcome in these patients on follow-up.
Topics: Adult; Aged; Aged, 80 and over; Anticonvulsants; Child; Child, Preschool; Cross-Sectional Studies; Electroencephalography; Epilepsy; Humans; Infant; Male; Middle Aged; Retrospective Studies; Seizures; Spasm; Spasms, Infantile; Young Adult
PubMed: 34623615
DOI: 10.1007/s12098-021-03918-y -
Special Care in Dentistry : Official... 2014West syndrome (WS) is a rare age-related syndrome of epilepsy. The oral manifestations of WS are still unknown.
INTRODUCTION
West syndrome (WS) is a rare age-related syndrome of epilepsy. The oral manifestations of WS are still unknown.
OBJECTIVE
To assess the oral health status and oral findings of a sample of WS children being treated at a specialized referral center.
MATERIAL AND METHODS
The dental record forms of 528 children were searched at this center. Eight of the children had been diagnosed with WS.
RESULTS
The ages of those with WS ranged from 6 months to 13 years, and 62% of them were male. All of them were taking antiepileptic medication. Twenty-five percent of them had tongue interposition between the dental arches and a deep palate. The mean DMFT was .25 and dmft was 1.12.
CONCLUSION
Patients with WS seem to have low caries experience, can have a deep palate, and may have their tongue positioned between the arches or on the incisive papilla.
Topics: Adolescent; Child; Child, Preschool; Female; Humans; Infant; Male; Oral Health; Spasms, Infantile; Tooth
PubMed: 25353658
DOI: 10.1111/scd.12068 -
Roczniki Akademii Medycznej W... 2005Paper presents reasons leading to the West Syndrome, disturbances occurring in the child's development and possible rehabilitation programmes. Psychological... (Review)
Review
Paper presents reasons leading to the West Syndrome, disturbances occurring in the child's development and possible rehabilitation programmes. Psychological rehabilitation of a child with West Syndrome is multilateral, but its main aim is to improve the quality of life, social adaptation and optimizing of the cognitive functioning. Taking into consideration the psychokinetic retardation occurring in the West Syndrome because of prenatal, perinatal or postnatal disturbances apart from pharmacotherapy an intensive psychokinetic stimulation based on plasticity of the brain should be stressed out. Only the complex, intensive and long lasting rehabilitation of a child may secure to it the best possible development.
Topics: Child; Child Development; Developmental Disabilities; Humans; Infant; Spasms, Infantile
PubMed: 16358987
DOI: No ID Found -
Research in Developmental Disabilities Jun 2019This study aimed to investigate the clinical characteristics and neurodevelopmental outcomes of children with West syndrome (WS) by using the Bayley-III scale of infant...
BACKGROUND
This study aimed to investigate the clinical characteristics and neurodevelopmental outcomes of children with West syndrome (WS) by using the Bayley-III scale of infant development, as the first report from the Middle-East.
METHODS
Between January 2013 and February 2016, we prospectively enrolled 67 consecutive patients with a confirmed diagnosis of WS from Isfahan, Iran. Cognition, language and motor outcomes of the studied subjects were evaluated with the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III).
RESULTS
Overall, 67 cases, including 34 (50.7%) boys and 33 (49.3%) girls (a male/female ratio of 1.03), were enrolled for the study. The mean age was 26.7 ± 12.9 months. Among the subjects, 50 (74.6%) patients had symptomatic WS, and 17 (25.4%) patients had cryptogenic WS. "Severe delay" was found in 76.9% of the patients regarding cognitive evaluation, 67.7% for language and communication abilities, and, 81.5% for motor function. The patients with cryptogenic WS were significantly more likely to have more favorable outcomes in motor (p = 0.035), cognitive (p = 0.035) and receptive language (p = 0.043) in comparison to those who had symptomatic WS. The patients with controlled seizures were significantly more likely to have more favorable outcomes in motor (p = 0.027) and cognition (p = 0.011) as compared to those with uncontrolled seizures.
CONCLUSION
WS was associated with poor neurodevelopmental outcome in our study. Severe developmental delay was associated with two major factors: (i) presence of a specific underlying abnormality (symptomatic WS) and(ii) persistent seizures as a result of the former.
Topics: Child Development; Child, Preschool; Cognition; Developmental Disabilities; Female; Humans; Infant; Iran; Language Development; Male; Motor Skills; Neuropsychological Tests; Outcome Assessment, Health Care; Spasms, Infantile
PubMed: 30974259
DOI: 10.1016/j.ridd.2019.03.010 -
Anales de Pediatria (Barcelona, Spain :... Jan 2009
Topics: Genetic Diseases, X-Linked; Humans; Infant; Male; Spasms, Infantile
PubMed: 19174126
DOI: 10.1016/j.anpedi.2008.08.015 -
Brain & Development 1996
Review
Topics: Adrenocorticotropic Hormone; Humans; Infant; Spasms, Infantile
PubMed: 8980846
DOI: 10.1016/s0387-7604(96)00067-8 -
Child: Care, Health and Development Mar 2011West syndrome (WS), an age-specific epilepsy of infancy and early childhood, considered of poor prognosis, may have remission. With the objective of describing the...
BACKGROUND
West syndrome (WS), an age-specific epilepsy of infancy and early childhood, considered of poor prognosis, may have remission. With the objective of describing the clinical features, treatment and outcome of the children with WS followed in a Latin American country, we devised a retrospective study.
METHODS
Infants with recurrent spasms, and typical or atypical hypsarrhythmia on electroencephalography (EEG) were included, and their medical report reviewed with particular interest on therapy (anti-epileptic drug, steroids) and outcome. Short-term (remission of spasms up to 6 months after the beginning) and long-term outcome (development and seizure status over the age of 2 years) were focused.
RESULTS
Of the 37 selected infants, most (29/37, 78.3%) were classified as symptomatic, and neonatal history of hypoxia (10/29) was the most frequent etiology. The majority had a typical hypsarrhythmia EEG pattern. Most used a combination of anti-epileptic drugs and steroids. A favourable short-term outcome occurred in 20 infants, but only three had normal development and were seizure free after the age of 2 years.
CONCLUSION
Early seizure remission is not assurance of normal final outcome in WS.
Topics: Age of Onset; Anticonvulsants; Developmental Disabilities; Female; Glucocorticoids; Humans; Infant; Male; Prognosis; Remission Induction; Retrospective Studies; Spasms, Infantile; Treatment Outcome
PubMed: 20637023
DOI: 10.1111/j.1365-2214.2010.01128.x -
Epilepsy Research Dec 2012West syndrome is an age-dependent epileptic encephalopathy. Autonomic changes are increasingly being recognized in patients with epilepsy: cardiac autonomic function is...
BACKGROUND
West syndrome is an age-dependent epileptic encephalopathy. Autonomic changes are increasingly being recognized in patients with epilepsy: cardiac autonomic function is mediated by sympathetic and parasympathetic efferent activity to the heart and can provide information on the functional state of the autonomic nervous system. The goal of the study is to evaluate the effect of an early epileptic encephalopathy on the autonomic nervous system by measuring heart rate variability.
METHODS
Cardiac autonomic function was evaluated in 13 patients with West syndrome by measuring heart rate variability during 5 min epochs of ECG in wake, stage 2 and slow wave sleep. In 5 patients who developed subsequently another type of epilepsy, a second evaluation was performed after 3 years of follow-up.
RESULTS
Results showed a lower heart rate in stage 2 sleep in patients with West syndrome. Spectral components did not show significant differences compared to age matched controls at the moment of presentation. After follow-up of 3 years we were able to demonstrate higher low frequency (LF), lower high frequency (HF) and a higher LF/HF ratio during slow wave sleep.
CONCLUSION
This study shows a lower heart rate in patients presenting with West syndrome, already at the onset of the syndrome and before ACTH treatment. The epileptic encephalopathy is not sufficient to alter spectral components of heart rate at the moment of presentation. However, already after 3 years of epilepsy, chronic autonomic changes appear.
Topics: Age of Onset; Anticonvulsants; Autonomic Nervous System Diseases; Child; Child, Preschool; Cohort Studies; Electrocardiography; Electroencephalography; Female; Heart Diseases; Heart Rate; Humans; Infant; Male; Spasms, Infantile; Spectrum Analysis
PubMed: 22727657
DOI: 10.1016/j.eplepsyres.2012.05.010