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Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability / Jenny FAIRTHORNE in Journal of Autism and Developmental Disorders, 46-3 (March 2016)
[article]
Titre : Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Jenny FAIRTHORNE, Auteur ; Nick KLERK, Auteur ; Helen LEONARD, Auteur Article en page(s) : p.1103-1109 Langues : Anglais (eng) Mots-clés : Intellectual Autism Psychiatric Maternal Mothers Down Hospitalisation Index. décimale : PER Périodiques Résumé : Compared to other mothers, mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have higher rates of treatment episodes for psychiatric disorders. We aimed to estimate the maternal burden of care by comparing the length of hospitalisations for psychiatric disorders and the treatment rates for psychiatric disorders after the birth in mothers of children with ASD/ID and no psychiatric history to that of other mothers with no psychiatric history. Mothers of children with ID of known cause (not Down syndrome) and mothers of children ASD without ID emerged as particularly vulnerable. Mothers of children with Down syndrome were resilient. The development of specialised organisations to provide support to mothers of children with ID of known cause (not Down syndrome) and mothers of children with ASD without ID could assist them to maintain their mental health. En ligne : http://dx.doi.org/10.1007/s10803-015-2629-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282
in Journal of Autism and Developmental Disorders > 46-3 (March 2016) . - p.1103-1109[article] Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual Disability [Texte imprimé et/ou numérique] / Jenny FAIRTHORNE, Auteur ; Nick KLERK, Auteur ; Helen LEONARD, Auteur . - p.1103-1109.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-3 (March 2016) . - p.1103-1109
Mots-clés : Intellectual Autism Psychiatric Maternal Mothers Down Hospitalisation Index. décimale : PER Périodiques Résumé : Compared to other mothers, mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have higher rates of treatment episodes for psychiatric disorders. We aimed to estimate the maternal burden of care by comparing the length of hospitalisations for psychiatric disorders and the treatment rates for psychiatric disorders after the birth in mothers of children with ASD/ID and no psychiatric history to that of other mothers with no psychiatric history. Mothers of children with ID of known cause (not Down syndrome) and mothers of children ASD without ID emerged as particularly vulnerable. Mothers of children with Down syndrome were resilient. The development of specialised organisations to provide support to mothers of children with ID of known cause (not Down syndrome) and mothers of children with ASD without ID could assist them to maintain their mental health. En ligne : http://dx.doi.org/10.1007/s10803-015-2629-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring / Jenny FAIRTHORNE in Journal of Autism and Developmental Disorders, 46-2 (February 2016)
[article]
Titre : Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring Type de document : Texte imprimé et/ou numérique Auteurs : Jenny FAIRTHORNE, Auteur ; Geoff HAMMOND, Auteur ; Jenny BOURKE, Auteur ; Nick KLERK, Auteur ; Helen LEONARD, Auteur Année de publication : 2016 Article en page(s) : p.523-533 Langues : Anglais (eng) Mots-clés : Autism Intellectual Psychiatric Mothers Pre-existing Prenatal medication Index. décimale : PER Périodiques Résumé : Psychiatric disorders are more common in the mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) after the birth of their child. We aimed to assess the relationship between women’s psychiatric contacts and subsequent offspring with ASD/ID. We linked three Western Australian registers to investigate pre-existing maternal outpatient psychiatric contacts and the odds of ASD/ID in a subsequent child. Women with a previous outpatient psychiatric contact were more than twice as likely to have a child with ASD [OR 2.07 (95 % CI 1.7, 2.6)] or ID [OR 2.31 (2.1, 2.6)]. Further research exploring the effect on pregnancy outcomes of medications prescribed to women with psychiatric disorders is implicated. En ligne : http://dx.doi.org/10.1007/s10803-015-2594-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=280
in Journal of Autism and Developmental Disorders > 46-2 (February 2016) . - p.523-533[article] Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring [Texte imprimé et/ou numérique] / Jenny FAIRTHORNE, Auteur ; Geoff HAMMOND, Auteur ; Jenny BOURKE, Auteur ; Nick KLERK, Auteur ; Helen LEONARD, Auteur . - 2016 . - p.523-533.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 46-2 (February 2016) . - p.523-533
Mots-clés : Autism Intellectual Psychiatric Mothers Pre-existing Prenatal medication Index. décimale : PER Périodiques Résumé : Psychiatric disorders are more common in the mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) after the birth of their child. We aimed to assess the relationship between women’s psychiatric contacts and subsequent offspring with ASD/ID. We linked three Western Australian registers to investigate pre-existing maternal outpatient psychiatric contacts and the odds of ASD/ID in a subsequent child. Women with a previous outpatient psychiatric contact were more than twice as likely to have a child with ASD [OR 2.07 (95 % CI 1.7, 2.6)] or ID [OR 2.31 (2.1, 2.6)]. Further research exploring the effect on pregnancy outcomes of medications prescribed to women with psychiatric disorders is implicated. En ligne : http://dx.doi.org/10.1007/s10803-015-2594-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=280 Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells / J. BARNES in Molecular Autism, 9 (2018)
[article]
Titre : Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells Type de document : Texte imprimé et/ou numérique Auteurs : J. BARNES, Auteur ; F. SALAS, Auteur ; R. MOKHTARI, Auteur ; H. DOLSTRA, Auteur ; E. PEDROSA, Auteur ; H. M. LACHMAN, Auteur Article en page(s) : 44p. Langues : Anglais (eng) Mots-clés : Autism Cataract Dent disease Developmental inpp5b Induced pluripotent stem cells Intellectual Lowe syndrome ocrl Renal Index. décimale : PER Périodiques Résumé : Background: Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5-phosphatase. LS is characterized by the triad of congenital cataracts, neurodevelopmental impairment (primarily intellectual and developmental disabilities [IDD]), and renal proximal tubular dysfunction. Studies carried out over the years have shown that hypomorphic mutations in OCRL adversely affect endosome recycling and actin polymerization in kidney cells and patient-derived fibroblasts. The renal problem has been traced to an impaired recycling of megalin, a multi-ligand receptor that plays a key role in the reuptake of lipoproteins, amino acids, vitamin-binding proteins, and hormones. However, the neurodevelopmental aspects of the disorder have been difficult to study because the mouse knockout (KO) model does not display LS-related phenotypes. Fortunately, the discovery of induced pluripotent stem (iPS) cells has provided an opportunity to grow patient-specific neurons, which can be used to model neurodevelopmental disorders in vitro, as demonstrated in the many studies that have been published in the past few years in autism spectrum disorders (ASD), schizophrenia (SZ), bipolar disorder (BD), and IDD. Methods: We now report the first findings in neurons and neural progenitor cells (NPCs) generated from iPS cells derived from patients with LS and their typically developing male siblings, as well as an isogenic line in which the OCRL gene has been incapacitated by a null mutation generated using CRISPR-Cas9 gene editing. Results: We show that neuronal cells derived from patient-specific iPS cells containing hypomorphic variants are deficient in their capacity to produce F-filamentous actin (F-actin) fibers. Abnormalities were also found in the expression of WAVE-1, a component of the WAVE regulatory complex (WRC) that regulates actin polymerization. Curiously, neuronal cells carrying the engineered OCRL null mutation, in which OCRL protein is not expressed, did not show similar defects in F-actin and WAVE-1 expression. This is similar to the apparent lack of a phenotype in the mouse Ocrl KO model, and suggests that in the complete absence of OCRL protein, as opposed to producing a dysfunctional protein, as seen with the hypomorphic variants, there is partial compensation for the F-actin/WAVE-1 regulating function of OCRL. Conclusions: Alterations in F-actin polymerization and WRC have been found in a number of genetic subgroups of IDD and ASD. Thus, LS, a very rare genetic condition, is linked to a more expansive family of genes responsible for neurodevelopmental disorders that have shared pathogenic features. En ligne : https://dx.doi.org/10.1186/s13229-018-0227-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371
in Molecular Autism > 9 (2018) . - 44p.[article] Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells [Texte imprimé et/ou numérique] / J. BARNES, Auteur ; F. SALAS, Auteur ; R. MOKHTARI, Auteur ; H. DOLSTRA, Auteur ; E. PEDROSA, Auteur ; H. M. LACHMAN, Auteur . - 44p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 44p.
Mots-clés : Autism Cataract Dent disease Developmental inpp5b Induced pluripotent stem cells Intellectual Lowe syndrome ocrl Renal Index. décimale : PER Périodiques Résumé : Background: Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5-phosphatase. LS is characterized by the triad of congenital cataracts, neurodevelopmental impairment (primarily intellectual and developmental disabilities [IDD]), and renal proximal tubular dysfunction. Studies carried out over the years have shown that hypomorphic mutations in OCRL adversely affect endosome recycling and actin polymerization in kidney cells and patient-derived fibroblasts. The renal problem has been traced to an impaired recycling of megalin, a multi-ligand receptor that plays a key role in the reuptake of lipoproteins, amino acids, vitamin-binding proteins, and hormones. However, the neurodevelopmental aspects of the disorder have been difficult to study because the mouse knockout (KO) model does not display LS-related phenotypes. Fortunately, the discovery of induced pluripotent stem (iPS) cells has provided an opportunity to grow patient-specific neurons, which can be used to model neurodevelopmental disorders in vitro, as demonstrated in the many studies that have been published in the past few years in autism spectrum disorders (ASD), schizophrenia (SZ), bipolar disorder (BD), and IDD. Methods: We now report the first findings in neurons and neural progenitor cells (NPCs) generated from iPS cells derived from patients with LS and their typically developing male siblings, as well as an isogenic line in which the OCRL gene has been incapacitated by a null mutation generated using CRISPR-Cas9 gene editing. Results: We show that neuronal cells derived from patient-specific iPS cells containing hypomorphic variants are deficient in their capacity to produce F-filamentous actin (F-actin) fibers. Abnormalities were also found in the expression of WAVE-1, a component of the WAVE regulatory complex (WRC) that regulates actin polymerization. Curiously, neuronal cells carrying the engineered OCRL null mutation, in which OCRL protein is not expressed, did not show similar defects in F-actin and WAVE-1 expression. This is similar to the apparent lack of a phenotype in the mouse Ocrl KO model, and suggests that in the complete absence of OCRL protein, as opposed to producing a dysfunctional protein, as seen with the hypomorphic variants, there is partial compensation for the F-actin/WAVE-1 regulating function of OCRL. Conclusions: Alterations in F-actin polymerization and WRC have been found in a number of genetic subgroups of IDD and ASD. Thus, LS, a very rare genetic condition, is linked to a more expansive family of genes responsible for neurodevelopmental disorders that have shared pathogenic features. En ligne : https://dx.doi.org/10.1186/s13229-018-0227-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371