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Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism / Steven KLEIN in Autism Research, 6-1 (February 2013)
[article]
Titre : Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism Type de document : Texte imprimé et/ou numérique Auteurs : Steven KLEIN, Auteur ; Pantea SHARIFI-HANNAUER, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur Année de publication : 2013 Article en page(s) : p.51-56 Langues : Anglais (eng) Mots-clés : autism macrocephaly PTEN overgrowth hypotonia Index. décimale : PER Périodiques Résumé : An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. En ligne : http://dx.doi.org/10.1002/aur.1266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Autism Research > 6-1 (February 2013) . - p.51-56[article] Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism [Texte imprimé et/ou numérique] / Steven KLEIN, Auteur ; Pantea SHARIFI-HANNAUER, Auteur ; Julian A. MARTINEZ-AGOSTO, Auteur . - 2013 . - p.51-56.
Langues : Anglais (eng)
in Autism Research > 6-1 (February 2013) . - p.51-56
Mots-clés : autism macrocephaly PTEN overgrowth hypotonia Index. décimale : PER Périodiques Résumé : An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic characterization of the remaining cases remains unclear. We report the phenotypic classification and genetic testing evaluation of a cohort of 33 patients with autism and macrocephaly. Within our cohort, we confirm the association of PTEN mutations and extreme macrocephaly (3 SD, 99.7th percentile) and identify mutations in 22% of cases, including three novel PTEN mutations. In addition, we define three phenotypic subgroups: (a) those cases associated with somatic overgrowth, (b) those with disproportionate macrocephaly, and (c) those with relative macrocephaly. We have devised a novel way to segregate patients into these subgroups that will aide in the stratification of autism macrocephaly cases. Within these subgroups, we further expand the genetic etiologies for autism cases with macrocephaly by describing two novel suspected pathogenic copy number variants located at 6q23.2 and 10q24.32. These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. The clinical yield from PTEN mutation analysis is 22% and 9% from chromosomal microarray (CMA) testing within this cohort. The identification of three distinct phenotypic subgroups within macrocephaly autism patients may allow for the identification of their respective distinct genetic etiologies that to date have remained elusive. En ligne : http://dx.doi.org/10.1002/aur.1266 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192 Brief Report: Macrocephaly Phenotype and Psychiatric Comorbidity in a Clinical Sample of Mexican Children and Adolescents with Autism Spectrum Disorders / Lilia ALBORES-GALLO in Journal of Autism and Developmental Disorders, 47-9 (September 2017)
[article]
Titre : Brief Report: Macrocephaly Phenotype and Psychiatric Comorbidity in a Clinical Sample of Mexican Children and Adolescents with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Lilia ALBORES-GALLO, Auteur ; Laura FRITSCHE-GARCÍA, Auteur ; Arturo Pabel MIRANDA-AGUIRRE, Auteur ; Montserrat AVILA-ACOSTA, Auteur Article en page(s) : p.2911-2917 Langues : Anglais (eng) Mots-clés : Macrocephaly Microcephaly Phenotype Autism spectrum disorders Comorbidity Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29.7%, oppositional defiant disorder 13.83% motor tics 11.7%, separation anxiety 9.5% and Gilles de la Tourette 8.5%. In conclusion, macrocephaly and psychiatric comorbidity in this clinical sample of children with ASD is similar to the international literature results. En ligne : https://doi.org/10.1007/s10803-017-3175-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316
in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2911-2917[article] Brief Report: Macrocephaly Phenotype and Psychiatric Comorbidity in a Clinical Sample of Mexican Children and Adolescents with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Lilia ALBORES-GALLO, Auteur ; Laura FRITSCHE-GARCÍA, Auteur ; Arturo Pabel MIRANDA-AGUIRRE, Auteur ; Montserrat AVILA-ACOSTA, Auteur . - p.2911-2917.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 47-9 (September 2017) . - p.2911-2917
Mots-clés : Macrocephaly Microcephaly Phenotype Autism spectrum disorders Comorbidity Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29.7%, oppositional defiant disorder 13.83% motor tics 11.7%, separation anxiety 9.5% and Gilles de la Tourette 8.5%. In conclusion, macrocephaly and psychiatric comorbidity in this clinical sample of children with ASD is similar to the international literature results. En ligne : https://doi.org/10.1007/s10803-017-3175-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=316 Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism / K. S. YEUNG in Molecular Autism, 8 (2017)
[article]
Titre : Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism Type de document : Texte imprimé et/ou numérique Auteurs : K. S. YEUNG, Auteur ; W. W. Y. TSO, Auteur ; J. J. K. IP, Auteur ; C. C. Y. MAK, Auteur ; G. K. C. LEUNG, Auteur ; M. H. Y. TSANG, Auteur ; D. YING, Auteur ; S. L. C. PEI, Auteur ; S. L. LEE, Auteur ; W. YANG, Auteur ; B. H. CHUNG, Auteur Article en page(s) : 66p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Developmental delay Mtor Macrocephaly Megalencephaly Pik3ca Ppp2r5d Pten Somatic mosaicism Hong Kong/Hospital Authority Hong Kong West Cluster (UW 12-211), and written consent was obtained from the patients' parents.Written informed consent was obtained from the patients' parents for publication of their children's details and accompanying images in this manuscript. The consent form is held by the authors and is available for review by the Editor-in-Chief.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients. Methods: We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. Results: We identified ten pathogenic/likely pathogenic mutations in PTEN (n = 4), PIK3CA (n = 3), MTOR (n = 1) and PPP2R5D (n = 2) in ten patients. An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). Their dysmorphic features were non-specific, except for macrocephaly. Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. Conclusion: We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/s13229-017-0182-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331
in Molecular Autism > 8 (2017) . - 66p.[article] Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism [Texte imprimé et/ou numérique] / K. S. YEUNG, Auteur ; W. W. Y. TSO, Auteur ; J. J. K. IP, Auteur ; C. C. Y. MAK, Auteur ; G. K. C. LEUNG, Auteur ; M. H. Y. TSANG, Auteur ; D. YING, Auteur ; S. L. C. PEI, Auteur ; S. L. LEE, Auteur ; W. YANG, Auteur ; B. H. CHUNG, Auteur . - 66p.
Langues : Anglais (eng)
in Molecular Autism > 8 (2017) . - 66p.
Mots-clés : Autism spectrum disorder Developmental delay Mtor Macrocephaly Megalencephaly Pik3ca Ppp2r5d Pten Somatic mosaicism Hong Kong/Hospital Authority Hong Kong West Cluster (UW 12-211), and written consent was obtained from the patients' parents.Written informed consent was obtained from the patients' parents for publication of their children's details and accompanying images in this manuscript. The consent form is held by the authors and is available for review by the Editor-in-Chief.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients. Methods: We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. Results: We identified ten pathogenic/likely pathogenic mutations in PTEN (n = 4), PIK3CA (n = 3), MTOR (n = 1) and PPP2R5D (n = 2) in ten patients. An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). Their dysmorphic features were non-specific, except for macrocephaly. Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. Conclusion: We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/s13229-017-0182-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=331 Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly / C. W. WONG in Autism Research, 11-8 (August 2018)
[article]
Titre : Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly Type de document : Texte imprimé et/ou numérique Auteurs : C. W. WONG, Auteur ; P. M. Y. OR, Auteur ; Y. WANG, Auteur ; L. LI, Auteur ; J. LI, Auteur ; M. YAN, Auteur ; Y. CAO, Auteur ; H. M. LUK, Auteur ; T. M. F. TONG, Auteur ; N. R. LESLIE, Auteur ; I. F. LO, Auteur ; K. W. CHOY, Auteur ; A. M. L. CHAN, Auteur Article en page(s) : p.1098-1109 Langues : Anglais (eng) Mots-clés : Hong Kong Pten PTEN hamartoma tumor syndrome autism spectrum disorders macrocephaly Index. décimale : PER Périodiques Résumé : PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS). PHTS individuals are characterized by macrocephaly, benign growth of multiple tissues and increased tumor risk. In addition, autistic phenotypes are found in 10-20% of individuals carrying the germline PTEN mutation with macrocephaly. In this report, 13 suspected PHTS patients were screened for mutation in the PTEN gene. A missense variant (c. 302T > C) substituting the isoleucine at codon 101 to a threonine, a single nucleotide insertion (c. 327-328insC) causing a frame shift mutation and termination at codon 109, and a nonsense variant (c. 1003C > T) truncated the protein at codon 335 were identified. The I101T mutation significantly reduced PTEN protein expression levels by 2.5- to 4.0-fold. Mechanistically, I101T reduced the protein half-life of PTEN possibly due to enhanced polyubiquitination at Lysine 13. However, the I101T mutant retained almost 30% of the lipid phosphatase activity of the wild-type protein. Finally, the I101T mutant has reduced phosphorylation at a PTEN auto-dephosphorylation site at Threonine 366 and a lowered ratio of nuclear to cytosolic protein level. These partial losses of multiple PTEN biochemical functions may contribute to the tissue overgrowth and autistic features of this PHTS patient. Autism Res 2018, 11: 1098-1109. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: The genetics of autism spectrum disorders is highly complex with individual risk influenced by both genetic and environmental factors. Mutation in the human PTEN gene confers a high risk of developing autistic behavior. This report revealed that PTEN mutations occurred in 23% of a selected group of Hong Kong patients harboring autistic features with gross overgrowth symptoms. Detailed characterization of a PTEN mutation revealed reduced protein stability as one of the underlying mechanisms responsible for reduced PTEN activity. En ligne : http://dx.doi.org/10.1002/aur.1950 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369
in Autism Research > 11-8 (August 2018) . - p.1098-1109[article] Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly [Texte imprimé et/ou numérique] / C. W. WONG, Auteur ; P. M. Y. OR, Auteur ; Y. WANG, Auteur ; L. LI, Auteur ; J. LI, Auteur ; M. YAN, Auteur ; Y. CAO, Auteur ; H. M. LUK, Auteur ; T. M. F. TONG, Auteur ; N. R. LESLIE, Auteur ; I. F. LO, Auteur ; K. W. CHOY, Auteur ; A. M. L. CHAN, Auteur . - p.1098-1109.
Langues : Anglais (eng)
in Autism Research > 11-8 (August 2018) . - p.1098-1109
Mots-clés : Hong Kong Pten PTEN hamartoma tumor syndrome autism spectrum disorders macrocephaly Index. décimale : PER Périodiques Résumé : PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS). PHTS individuals are characterized by macrocephaly, benign growth of multiple tissues and increased tumor risk. In addition, autistic phenotypes are found in 10-20% of individuals carrying the germline PTEN mutation with macrocephaly. In this report, 13 suspected PHTS patients were screened for mutation in the PTEN gene. A missense variant (c. 302T > C) substituting the isoleucine at codon 101 to a threonine, a single nucleotide insertion (c. 327-328insC) causing a frame shift mutation and termination at codon 109, and a nonsense variant (c. 1003C > T) truncated the protein at codon 335 were identified. The I101T mutation significantly reduced PTEN protein expression levels by 2.5- to 4.0-fold. Mechanistically, I101T reduced the protein half-life of PTEN possibly due to enhanced polyubiquitination at Lysine 13. However, the I101T mutant retained almost 30% of the lipid phosphatase activity of the wild-type protein. Finally, the I101T mutant has reduced phosphorylation at a PTEN auto-dephosphorylation site at Threonine 366 and a lowered ratio of nuclear to cytosolic protein level. These partial losses of multiple PTEN biochemical functions may contribute to the tissue overgrowth and autistic features of this PHTS patient. Autism Res 2018, 11: 1098-1109. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: The genetics of autism spectrum disorders is highly complex with individual risk influenced by both genetic and environmental factors. Mutation in the human PTEN gene confers a high risk of developing autistic behavior. This report revealed that PTEN mutations occurred in 23% of a selected group of Hong Kong patients harboring autistic features with gross overgrowth symptoms. Detailed characterization of a PTEN mutation revealed reduced protein stability as one of the underlying mechanisms responsible for reduced PTEN activity. En ligne : http://dx.doi.org/10.1002/aur.1950 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 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)
[article]
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?0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD. 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
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.414-422[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?0.001). This investigation provides the first preliminary evidence for the EF-anxiety-IS interrelationship in individuals with PTEN mutations and with macrocephalic ASD. 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 Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life / Jessica A. JIMÉNEZ in Molecular Autism, 11 (2020)
PermalinkClinical and Laboratory Data in a Sample of Greek Children with Autism Spectrum Disorders / Athina VERVERI in Journal of Autism and Developmental Disorders, 42-7 (July 2012)
PermalinkGenetic Suppression of mTOR Rescues Synaptic and Social Behavioral Abnormalities in a Mouse Model of Pten Haploinsufficiency / W. C. HUANG in Autism Research, 12-10 (October 2019)
PermalinkHead Circumferences in Twins With and Without Autism Spectrum Disorders / Wendy FROEHLICH in Journal of Autism and Developmental Disorders, 43-9 (September 2013)
PermalinkMicrocephaly in preschool children with Autism Spectrum Disorder / Mats CEDERLUND in Research in Autism Spectrum Disorders, 88 (October 2021)
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