Autism spectrum disorder and epileptic encephalopathy: common causes, many questions / S. SRIVASTAVA in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.23 Titre : Autism spectrum disorder and epileptic encephalopathy: common causes, many questions Type de document : Texte imprimé et/ou numérique Auteurs : S. SRIVASTAVA, Auteur ; M. SAHIN, Auteur Article en page(s) : p.23 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Epileptic encephalopathy  Mendelian disorders Index. décimale : PER Périodiques Résumé : Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology. In this review, we compiled a database of genes associated with both epileptic encephalopathy and ASD, limiting our purview to Mendelian disorders not including inborn errors of metabolism, and we focused on the connection between ASD and epileptic encephalopathy rather than epilepsy broadly. Our review has four goals: to (1) discuss the overlapping presentations of ASD and monogenic epileptic encephalopathies; (2) examine the impact of the epilepsy itself on neurocognitive features, including ASD, in monogenic epileptic encephalopathies; (3) outline many of the genetic causes responsible for both ASD and epileptic encephalopathy; (4) provide an illustrative example of a final common pathway that may be implicated in both ASD and epileptic encephalopathy. We demonstrate that autistic features are a common association with monogenic epileptic encephalopathies. Certain epileptic encephalopathy syndromes, like infantile spasms, are especially linked to the development of ASD. The connection between seizures themselves and neurobehavioral deficits in these monogenic encephalopathies remains open to debate. Finally, advances in genetics have revealed many genes that overlap in ties to both ASD and epileptic encephalopathy and that play a role in diverse central nervous system processes. Increased attention to the autistic features of monogenic epileptic encephalopathies is warranted for both researchers and clinicians alike. En ligne : http://dx.doi.org/10.1186/s11689-017-9202-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Autism spectrum disorder and epileptic encephalopathy: common causes, many questions [Texte imprimé et/ou numérique] / S. SRIVASTAVA, Auteur ; M. SAHIN, Auteur . - p.23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.23 Mots-clés : Autism spectrum disorder  Epileptic encephalopathy  Mendelian disorders Index. décimale : PER Périodiques Résumé : Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology. In this review, we compiled a database of genes associated with both epileptic encephalopathy and ASD, limiting our purview to Mendelian disorders not including inborn errors of metabolism, and we focused on the connection between ASD and epileptic encephalopathy rather than epilepsy broadly. Our review has four goals: to (1) discuss the overlapping presentations of ASD and monogenic epileptic encephalopathies; (2) examine the impact of the epilepsy itself on neurocognitive features, including ASD, in monogenic epileptic encephalopathies; (3) outline many of the genetic causes responsible for both ASD and epileptic encephalopathy; (4) provide an illustrative example of a final common pathway that may be implicated in both ASD and epileptic encephalopathy. We demonstrate that autistic features are a common association with monogenic epileptic encephalopathies. Certain epileptic encephalopathy syndromes, like infantile spasms, are especially linked to the development of ASD. The connection between seizures themselves and neurobehavioral deficits in these monogenic encephalopathies remains open to debate. Finally, advances in genetics have revealed many genes that overlap in ties to both ASD and epileptic encephalopathy and that play a role in diverse central nervous system processes. Increased attention to the autistic features of monogenic epileptic encephalopathies is warranted for both researchers and clinicians alike. En ligne : http://dx.doi.org/10.1186/s11689-017-9202-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations / M. ULJAREVIC in Journal of Autism and Developmental Disorders, 52-1 (January 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.414-422 Titre : Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations Type de document : Texte imprimé et/ou numérique Auteurs : M. ULJAREVIC, Auteur ; T. W. FRAZIER, Auteur ; G. RACHED, Auteur ; Robyn M. BUSCH, Auteur ; P. KLAAS, Auteur ; S. SRIVASTAVA, Auteur ; J. A. MARTINEZ-AGOSTO, Auteur ; M. SAHIN, Auteur ; C. ENG, Auteur ; A. Y. HARDAN, Auteur Article en page(s) : p.414-422 Langues : Anglais (eng) Mots-clés : Anxiety/genetics  Autism Spectrum Disorder/genetics  Child  Child, Preschool  Germ Cells  Germ-Line Mutation  Humans  PTEN Phosphohydrolase/genetics  Parents  Anxiety  Executive functioning  Insistence on sameness  Macrocephaly  Pten Index. décimale : PER Périodiques Résumé : This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M(age)?=?8.93 years, SD(age)?=?4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M(age)?=?8.94 years; SD(age)?=?4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M(age)?=?11.99 years; SD(age)?=?5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t?=?4.12, p? En ligne : http://dx.doi.org/10.1007/s10803-021-04881-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations [Texte imprimé et/ou numérique] / M. ULJAREVIC, Auteur ; T. W. FRAZIER, Auteur ; G. RACHED, Auteur ; Robyn M. BUSCH, Auteur ; P. KLAAS, Auteur ; S. SRIVASTAVA, Auteur ; J. A. MARTINEZ-AGOSTO, Auteur ; M. SAHIN, Auteur ; C. ENG, Auteur ; A. Y. HARDAN, Auteur . - p.414-422. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.414-422 Mots-clés : Anxiety/genetics  Autism Spectrum Disorder/genetics  Child  Child, Preschool  Germ Cells  Germ-Line Mutation  Humans  PTEN Phosphohydrolase/genetics  Parents  Anxiety  Executive functioning  Insistence on sameness  Macrocephaly  Pten Index. décimale : PER Périodiques Résumé : This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with PTEN mutations and individuals with macrocephalic ASD. The sample included 38 individuals with PTEN mutation and ASD diagnosis (PTEN-ASD; M(age)?=?8.93 years, SD(age)?=?4.75), 23 with PTEN mutation without ASD (PTEN-no ASD; M(age)?=?8.94 years; SD(age)?=?4.85) and 25 with ASD and macrocephaly but with no PTEN mutation (Macro-ASD; M(age)?=?11.99 years; SD(age)?=?5.15). The final model accounted for 45.7% of variance in IS, with Set-Shifting EF subdomain as a unique independent predictor (t?=?4.12, p? En ligne : http://dx.doi.org/10.1007/s10803-021-04881-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring / A. KOLEVZON in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.39 Titre : Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Type de document : Texte imprimé et/ou numérique Auteurs : A. KOLEVZON, Auteur ; Benjamin ANGARITA, Auteur ; L. BUSH, Auteur ; A. Ting WANG, Auteur ; Y. FRANK, Auteur ; A. YANG, Auteur ; R. RAPAPORT, Auteur ; J. SALAND, Auteur ; S. SRIVASTAVA, Auteur ; C. FARRELL, Auteur ; L. J. EDELMANN, Auteur ; Joseph D. BUXBAUM, Auteur Article en page(s) : p.39 Langues : Anglais (eng) Mots-clés : 22q13 deletion syndrome  Autism  Autism spectrum disorder  Neurodevelopmental disorders  Phelan-McDermid syndrome  Practice parameters  Shank3 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-39 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring [Texte imprimé et/ou numérique] / A. KOLEVZON, Auteur ; Benjamin ANGARITA, Auteur ; L. BUSH, Auteur ; A. Ting WANG, Auteur ; Y. FRANK, Auteur ; A. YANG, Auteur ; R. RAPAPORT, Auteur ; J. SALAND, Auteur ; S. SRIVASTAVA, Auteur ; C. FARRELL, Auteur ; L. J. EDELMANN, Auteur ; Joseph D. BUXBAUM, Auteur . - p.39. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.39 Mots-clés : 22q13 deletion syndrome  Autism  Autism spectrum disorder  Neurodevelopmental disorders  Phelan-McDermid syndrome  Practice parameters  Shank3 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of ASD and/or ID with a frequency of 0.5% to 2% of cases. SHANK3 is the critical gene in this syndrome, and its loss results in disruption of synaptic function. With chromosomal microarray analyses now a standard of care in the assessment of ASD and developmental delay, and with the emergence of whole exome and whole genome sequencing in this context, identification of PMS in routine clinical settings will increase significantly. However, PMS remains a rare disorder, and the majority of physicians have never seen a case. While there is agreement about core deficits of PMS, there have been no established parameters to guide evaluation and medical monitoring of the syndrome. Evaluations must include a thorough history and physical and dysmorphology examination. Neurological deficits, including the presence of seizures and structural brain abnormalities should be assessed as well as motor deficits. Endocrine, renal, cardiac, and gastrointestinal problems all require assessment and monitoring in addition to the risk of recurring infections, dental and vision problems, and lymphedema. Finally, all patients should have cognitive, behavioral, and ASD evaluations. The objective of this paper is to address this gap in the literature and establish recommendations to assess the medical, genetic, and neurological features of PMS. En ligne : http://dx.doi.org/10.1186/1866-1955-6-39 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

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