Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications

Verrotti, Alberto; Greco, Marco; Varriale, Gaia; Tamborino, Agnese; Savasta, Salvatore; Carotenuto, Marco; Elia, Maurizio; Operto, Francesca Felicia; Margari, Lucia; Belcastro, Vincenzo; Selicorni, Angelo; Freri, Elena; Matricardi, Sara; Granata, Tiziana; Ragona, Francesca; Capovilla, Giuseppe; Spalice, Alberto; Coppola, Giangennaro; Striano, Pasquale

doi:10.1111/ane.13006

Cited by 9 publications

(8 citation statements)

References 23 publications

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“…On the functional level, OSAS in childhood may impair several neurocognitive functions such as executive functions, memory, motor control, attention, and visual-spatial skills [10, 11]. In addition, OSAS may be associated to emotional and mood dimensions [12–15], autism spectrum disorders [16], primary headaches [17, 18], and epilepsy [19–22].…”

Section: Introductionmentioning

confidence: 99%

Emotional Intelligence in Children with Severe Sleep-Related Breathing Disorders

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Bitetti

et al. 2019

Behavioural Neurology

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Background. Obstructive sleep apnea syndrome (OSAS) affects up to 4% of a pediatric population, with many comorbidities in the medium-long term. Functional alterations in the prefrontal cortex (PFC) may explain why OSAS impacts aspects such as executive functions, memory, motor control, attention, visual-spatial skills, learning, and mood regulation. Emotional intelligence (EI) is a complex neuropsychological function that could be impaired in many clinical conditions. Purpose. The aim of the study is to evaluate the difference in emotional intelligence skills among children with OSAS and healthy subjects (nOSAS). Methods. 129 children (72 males; mean age 7.64±1.98 years) affected by OSAS were compared to 264 non-OSAS (nOSAS) children (138 males; mean age 7.98±2.13) similar for gender, age, and socioeconomic status. In order to assess the emotional quotient, the Bar-On Emotional Quotient Inventory: Youth Version (EQ-i:YV) was used. Results. The comparison for means and standard deviation between OSAS children and nOSAS children for EQ-i:YV scores showed significant differences for Interpersonal, Adaptability, and Stress Management scales and EQ Total score. Conclusions. Our findings highlighted the role of intermittent hypoxia in the genesis of the effects of sleep-related respiratory disorders, which involves also aspects different from physical impairments.

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Section: Introductionmentioning

confidence: 99%

Emotional Intelligence in Children with Severe Sleep-Related Breathing Disorders

Operto

Precenzano

Bitetti

et al. 2019

Behavioural Neurology

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“…However, it has been recently suggested that the leading type of seizures in these disorders is infantile spasm (36.4% of examined patients), which is not very common in our group of patients with GPIBD. This observation prompts the conclusion that the children presenting with dysmorphic features, neurodevelopmental delay, and early onset of epileptic seizures should be screened for both 1p36MS and GPIBDs, with infantile spams type of seizures being an important factor indicating the more probable diagnosis of 1p36MS ( 85 ). Our systematic review may serve as a basis for the comparison with both of these syndromes.…”

Section: Discussionmentioning

confidence: 80%

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

et al. 2022

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Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects. Alterations of their structure and function in these disorders impair often fundamental processes in cells, resulting in severe clinical image. This study aimed to provide a systematic review of GPIBD cases reports published in English-language literature.Methods: The browsing of open-access databases (PubMed, PubMed Central. and Medline) was conducted, followed by statistical analysis of gathered information concerning neurological symptomatology. The inclusion criteria were: studies on humans, age at onset (<18 y.o.), and report of GPIBD cases with adequate data on the genetic background and symptomatology. Exclusion criteria were: publication type (manuscripts, personal communication, review articles); reports of cases of GPI biosynthesis genes mutations in terms of other disorders; reports of GPIBD cases concentrating on non-neurological symptoms; or articles concentrating solely on the genetic issues of GPI biosynthesis. Risk of bias was assessed using Joanna Brigs Institute Critical Appraisal Checklists. Data synthesis was conducted using STATISTICA 13.3.721.1 (StatSoft Polska Sp. z.o.o.). Used tests were chi-square, Fisher's exact test (for differences in phenotype), and Mann-Whitney U test (for differences in onset of developmental delay).Results: Browsing returned a total of 973 articles which, after ruling out the repetitions and assessing the inclusion and exclusion criteria, led to final inclusion of 77 articles (337 GPIBD cases) in the analysis. The main outcomes were prevalence of neurological symptoms, onset and semiology of seizures and their response to treatment, and onset of developmental delay. Based on this data a synthesis of phenotypical differences between the groups of GPIBD cases and the general GPIBD cases population was made.Discussion: A synthetical analysis of neurological components in clinical image of GPIBD patients was presented. It highlights the main features of these disorders, which might be useful in clinical practice for consideration in differential diagnosis with children presenting with early-onset seizures and developmental delay. The limitation of this review is the scarcity of the specific data in some reports, concerning the semiology and onset of two main features of GPIBD.

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“…Diferrent critical region for epilepsy were delineated [ 92 , 93 , 94 ]. Haploinsufficiency of several genes was considered a potential contributor to seizures , such as GABRD ( delta subunit of the gamma-amino butyric acid receptor gene) , KCNAB2 (voltage-gated potassium channel subunit beta-2) gene and SKI (SKI proto-oncogene) [ 89 , 95 ].…”

Section: Monosomy 1p36mentioning

confidence: 99%

“…Various AEDs are reported in the literature for epilepsy treatment in 1p36 monosomy syndrome: high doses of oral steroids, VPA, LEV, VBG, ESM, PHB, association of VPA with ACTH or multidrug combination. The prognosis of epilepsy is reported as usually favourable; however a percentage of patients experience drug resistant seizures [ 85 , 89 , 90 , 95 ]. The onset of epilepsy with ISs, in 1p36 deletion syndrome, seems to be associated with a higher risk of developing refractory epilepsia [ 89 , 91 , 95 ].…”

Section: Monosomy 1p36mentioning

confidence: 99%

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases

et al. 2020

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AbstractChromosomal diseases are heterogeneous conditions with complex phenotypes, which include also epileptic seizures. Each chromosomal syndrome has a range of specific characteristics regarding the type of seizures, EEG findings and specific response to antiepileptic drugs, significant in the context of the respective genetic etiology. Therefore, it is very important to know these particularities, in order to avoid an exacerbation of seizures or some side effects. In this paper we will present a review of the epileptic seizures and antiepileptic treatment in some of the most common chromosomal syndromes.

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Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications

Abstract: This syndrome represents a significant cause of IS: these patients, who develop IS, can suffer from pharmacoresistent epilepsy, that is more frequent in children with brain abnormalities.

Cited by 9 publications

References 23 publications

Emotional Intelligence in Children with Severe Sleep-Related Breathing Disorders

Emotional Intelligence in Children with Severe Sleep-Related Breathing Disorders

Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases

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