Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia

D’Orsi, G.; Pascarella, Maria Grazia; Pansini, Angela; Buonadonna, A.; Trivisano, Marina; Pacillo, Francesca; Carapelle, Elena; Demaio, Vincenzo; Minervini, Massimo; Gentile, Mattia; Specchio, Luigi Maria

doi:10.1002/ajmg.a.35859

Cited by 6 publications

(4 citation statements)

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“…Individuals with full trisomy 18, partial trisomy 18 due to an extra copy of 18p or 18q, and mosaic forms of trisomy 18 all reported seizures, suggesting that seizure susceptibility could be related to extra material on both arms of chromosome 18. Previous analysis of seizures in individuals with partial trisomy 18 suggested that a seizure susceptibility locus was located between 18q12.2‐q22.2 (Ceccarini et al, 2007; d'Orsi et al, 2013; Peron & Carey, 2014). However, (Grosso et al, 2005) also reported cases of intractable epilepsy in individuals with trisomy for 18p.…”

Section: Discussionmentioning

confidence: 99%

Seizures in trisomy 18: Prevalence, description, and treatment

Jaspersen

Bruns

Candee

et al. 2023

American J of Med Genetics Pt A

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Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management. Using parent‐reported data collected as part of the Tracking Rare Incidence Syndromes project, we report on the prevalence, course, and management of seizures in individuals with trisomy 18. Twenty‐eight percent (52/186) of individuals diagnosed with trisomy 18 in our retrospective cohort experienced generalized, focal, or mixed seizures at some point in their lifetime. For many individuals, seizures were effectively managed by broad‐spectrum anti‐seizure medications. Correlation analysis showed that focal and generalized seizures were more likely to occur in individuals who had previously experienced infantile spasms or central apnea. Electroencephalogram testing should be considered as part of a standard screening approach in individuals with trisomy 18 to enable early diagnosis and treatment of seizures. An international registry that incorporates parent‐reported and clinical data for patients with trisomy 18 may facilitate ongoing research and recruitment into clinical trials for seizure management.

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Section: Discussionmentioning

confidence: 99%

Seizures in trisomy 18: Prevalence, description, and treatment

Jaspersen

Bruns

Candee

et al. 2023

American J of Med Genetics Pt A

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“…Over 500 different chromosomal imbalances have been described with seizures or EEG abnormalities. Some vary with better prognosis in 18p than 18q trisomy [7,28] . More data are available for full trisomy 18: These dosage imbalances might, for some neuronal genes, lay the basis for the observed epilepsy phenotypes.…”

Section: Discussionmentioning

confidence: 99%

“…Nine patients presented generalized tonic-clonic seizures [27][28][29][30][31][32] . In two of them generalized seizures were preceded, respectively, by spasms and tonic asymmetric seizures until the age of 12 years [30] or by reflex periodic spasms triggered by eating until the age of 25 years [28] . In all patients, different antiepileptic drugs (AEDs) were used (phenobarbital, valproic acid and rufinamide) but seizure control was poor.…”

Section: Trisomy 18mentioning

confidence: 99%

Epilepsy and chromosome 18 abnormalities: A review

Verrotti

Carelli

Genova

et al. 2015

Seizure

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Children with chromosomal 18 abnormalities can present different types of epilepsy, more frequently focal seizures in individuals with 18q- deletion syndrome, while both complex partial seizures and generalized tonic-clonic seizures have been described in patients who suffer for trisomy 18. Outcome in term of seizures frequency and duration seems to be variable and epilepsy is drug resistant in half of the children, especially in children with trisomy 18 and generalized epilepsy.

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“…Moreover, the partial trisomy of the chromosome 18 is a rare genetic chromosomal syndrome, corresponding to a variant and less severe form of Edwards’s Syndrome (OMIM 300484). For this condition, the severity of the symptoms and the phenotype is highly variable depending on the extension of chromosome involvement and the level of compromised cells and tissues [2]. …”

Section: Introductionmentioning

confidence: 99%

A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach

et al. 2014

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BackgroundChromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes.ResultsWe report the first case of de novo microdeletion at 7q and 18p, 18q partial trisomy, microduplication at Xp associated to intellectual disability in a Brazilian child, presenting a normal karyotype. Karyotyping showed any chromosome alteration. Chromosomal microarray analysis detected a de novo microdeletion at 18p11.32 and 18q partial trisomy, an inherited microdeletion at 7q31.1 and a de novo microduplication at Xp22.33p21.3.ConclusionsOur report illustrates a case that presents complex genomic imbalances which may contribute to a severe clinical phenotypes. The rare and complex phenotypes have to be investigated to define the subsets and allow the phenotypes classification.

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Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia

Cited by 6 publications

References 6 publications

Seizures in trisomy 18: Prevalence, description, and treatment

Seizures in trisomy 18: Prevalence, description, and treatment

Epilepsy and chromosome 18 abnormalities: A review

A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach

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