Association of epilepsy with different groups of microcephaly

Abdel-Salam, Ghada M H; Halász, A; Czeizel, Andr̀ew E.

doi:10.1111/j.1469-8749.2000.tb00040.x

Cited by 8 publications

(9 citation statements)

References 25 publications

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“…In one Class III study of children with microcephaly, EEG abnormalities were found in 51% of 39 children who either had no seizures or had occasional febrile seizures. 24 Epileptiform EEG abnormalities were present in 78% of 18 children with MRE.…”

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confidence: 99%

“…In one study, epilepsy occurred in 50% of children with postnatal onset microcephaly compared to only 35.7% of those with congenital microcephaly. 24 The second study found that epilepsy was 4 times more common in postnatal onset microcephaly. 25 Microcephaly is a significant risk factor for medically refractory epilepsy (MRE).…”

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confidence: 99%

“…Data from one Class III study involving 66 children with microcephaly (ϽϪ2 SD) found an overall prevalence of epilepsy of 40.9%. 24 Two Class III studies suggest that epilepsy is more common in postnatal onset than in congenital microcephaly. In one study, epilepsy occurred in 50% of children with postnatal onset microcephaly compared to only 35.7% of those with congenital microcephaly.…”

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confidence: 99%

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Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

et al. 2009

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Objective: To make evidence-based recommendations concerning the evaluation of the child with microcephaly. Methods:Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a 4-tiered scheme of evidence classification. Results:Microcephaly is an important neurologic sign but there is nonuniformity in its definition and evaluation. Microcephaly may result from any insult that disturbs early brain growth and can be seen in association with hundreds of genetic syndromes. Annually, approximately 25,000 infants in the United States will be diagnosed with microcephaly (head circumference ϽϪ2 SD). Few data are available to inform evidence-based recommendations regarding diagnostic testing. The yield of neuroimaging ranges from 43% to 80%. Genetic etiologies have been reported in 15.5% to 53.3%. The prevalence of metabolic disorders is unknown but is estimated to be 1%. Children with severe microcephaly (head circumference ϽϪ3 SD) are more likely (ϳ80%) to have imaging abnormalities and more severe developmental impairments than those with milder microcephaly (Ϫ2 to Ϫ3 SD; ϳ40%). Coexistent conditions include epilepsy (ϳ40%), cerebral palsy (ϳ20%), mental retardation (ϳ50%), and ophthalmologic disorders (ϳ20% to ϳ50%).Recommendations: Neuroimaging may be considered useful in identifying structural causes in the evaluation of the child with microcephaly (Level C). Targeted and specific genetic testing may be considered in the evaluation of the child with microcephaly who has clinical or imaging abnormalities that suggest a specific diagnosis or who shows no evidence of an acquired or environmental etiology (Level C). Screening for coexistent conditions such as cerebral palsy, epilepsy, and sensory deficits may also be considered (Level C). Further study is needed regarding the yield of diagnostic testing in children with microcephaly. Neurology Microcephaly is an important neurologic sign but there is nonuniformity in the definition of microcephaly and inconsistency in the evaluation of affected children.1,2 Microcephaly is usually defined as a head circumference (HC) more than 2 SDs below the mean for age and gender.2,3 Some academics have advocated for defining severe microcephaly as an HC more than 3 SDs below the mean.4-7 Other than where specified, this parameter uses the usual definition of microcephaly. Recommended methods for HC measurement are described in appendix 2.If HC is normally distributed, 2.3% of children should by definition be microcephalic. However, published estimates for HC ϽϪ2 SD at birth are far lower, at 0.56% 8 and 0.54%. 9 The difference may be accounted for by a non-normal distribution, postnatal development of microcephaly, or incomplete ascertainment. Severe microcephaly would be expected Appendices e-1 through e-6 and references e1-e12 are available on the Neurology Web site at www.neurology.org.

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Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

et al. 2009

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“…[11] The main finding in this study would appear to be in agreement with the established association between microcephaly and developmental disabilities in both developed and developing countries. [1][2][3][4]19] In contrast, far fewer studies exist with respect to macrocephalic infants, which would not be unexpected especially in resource-constrained settings such as in the current study population due to the lower prevalence of survivors. Moreover, congenital anomalies of the central nervous systems are generally underreported in developing countries.…”

Section: Discussionmentioning

confidence: 75%

“…[1][2][3][4][5] The burden of abnormal head size also extends into adulthood with documented association with Alzheimer, schizophrenia, and coronary heart disease. [6,7] Both microcephaly and macrocephaly are attributable to chromosomal abnormalities and a variety of environmental factors including congenital infections such as cytomegalovirus (CMV), rubella, and toxoplasmosis.…”

Section: Introductionmentioning

confidence: 99%

Risk of sensorineural hearing loss in infants with abnormal head size

Olusanya

2013

Ann Afr Med

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Molecular and phenotypic spectrum of ASPM‐related primary microcephaly: Identification of eight novel mutations

Abdel‐Hamid

Ismail

Darwish

et al. 2016

American J of Med Genetics Pt A

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Autosomal recessive primary microcephaly (MCPH) is an abnormal proliferation of neurons during brain development that leads to a small brain size but architecturally normal in most instances. Mutations in the ASPM gene have been identified to be the most prevalent. Thirty-seven patients from 30 unrelated families with a clinical diagnosis of MCPH were enrolled in this study. Screening of ASPM gene mutations was performed by targeted linkage analysis followed by direct sequencing. Thirteen protein truncating mutations of the ASPM were identified in 15 families (50%), eight of which were novel mutations. The mutations detected were eight nonsense, four frameshift, and one splice site. Two of these mutations (p.R1327* and p.R3181*) were recurrent and shared similar haplotypes suggesting founder effect. Patients with ASPM mutations had mild to severe intellectual disability and variable degrees of simplified gyral pattern and small frontal lobe. In addition, hypoplasia of corpus callosum (18 patients), mildly small cerebellar vermis (10 patients), and relatively small pons (13 patients) were found in 85.7%, 47.6%, and 61.9%, respectively. Furthermore, one patient had porencephaly and another had a small midline cyst. Epilepsy was documented in two patients (9.5%). Non-neurologic abnormalities consisted of growth retardation (four patients), and co-incidental association of oculo-cutaneous albinism (one patient). Our study expands the mutation spectrum of ASPM. Moreover, the simplified gyral pattern and small frontal lobe together with hypoplastic corpus callosum, small cerebellum and pons enable ASPM mutated patients to be distinguished. © 2016 Wiley Periodicals, Inc.

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Association of epilepsy with different groups of microcephaly

Cited by 8 publications

References 25 publications

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) [RETIRED]

Risk of sensorineural hearing loss in infants with abnormal head size

Molecular and phenotypic spectrum of ASPM‐related primary microcephaly: Identification of eight novel mutations

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