Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
3 recherche sur le mot-clé 'Rare diseases'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Challenging child behaviours positively predict symptoms of posttraumatic stress disorder in parents of children with Autism Spectrum Disorder and Rare Diseases / Michelle STEWART in Research in Autism Spectrum Disorders, 69 (January 2020)
[article]
Titre : Challenging child behaviours positively predict symptoms of posttraumatic stress disorder in parents of children with Autism Spectrum Disorder and Rare Diseases Type de document : Texte imprimé et/ou numérique Auteurs : Michelle STEWART, Auteur ; Alexandra SCHNABEL, Auteur ; David J. HALLFORD, Auteur ; Jane A. MCGILLIVRAY, Auteur ; David FORBES, Auteur ; Madeline FOSTER, Auteur ; Kerrie SHANDLEY, Auteur ; Madeleine GARDAM, Auteur ; David W. AUSTIN, Auteur Article en page(s) : p.101467 Langues : Anglais (eng) Mots-clés : Autism ASD Rare diseases Traumatic stress Trauma PTSD Index. décimale : PER Périodiques Résumé : Background This study investigated the validity of conceptualising elevated stress in parents of children who exhibit challenging behaviour within the framework of posttraumatic stress disorder (PTSD). It was hypothesised that parents of children with autism spectrum disorder (ASD), and parents of children with a rare disease would endorse greater PTSD symptomatology than parents of typically developing (TD) children, and that challenging child behaviours would positively predict PTSD symptomatology. Method The Life Events Checklist for DSM-5, Developmental Behaviour Checklist (Parent) and PTSD Checklist for DSM-5 were administered to 395 parents. Results Significantly more PTSD symptomatology was reported by parents of children with ASD and parents of children with a rare disease than parents of TD children, and challenging child behaviours positively predicted PTSD symptomatology in both groups. Conclusion A PTSD framework may validly explain elevated stress among some parents of children with ASD and parents of children with a rare disease, and has important implications for support delivered to parents by healthcare providers. En ligne : https://doi.org/10.1016/j.rasd.2019.101467 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412
in Research in Autism Spectrum Disorders > 69 (January 2020) . - p.101467[article] Challenging child behaviours positively predict symptoms of posttraumatic stress disorder in parents of children with Autism Spectrum Disorder and Rare Diseases [Texte imprimé et/ou numérique] / Michelle STEWART, Auteur ; Alexandra SCHNABEL, Auteur ; David J. HALLFORD, Auteur ; Jane A. MCGILLIVRAY, Auteur ; David FORBES, Auteur ; Madeline FOSTER, Auteur ; Kerrie SHANDLEY, Auteur ; Madeleine GARDAM, Auteur ; David W. AUSTIN, Auteur . - p.101467.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 69 (January 2020) . - p.101467
Mots-clés : Autism ASD Rare diseases Traumatic stress Trauma PTSD Index. décimale : PER Périodiques Résumé : Background This study investigated the validity of conceptualising elevated stress in parents of children who exhibit challenging behaviour within the framework of posttraumatic stress disorder (PTSD). It was hypothesised that parents of children with autism spectrum disorder (ASD), and parents of children with a rare disease would endorse greater PTSD symptomatology than parents of typically developing (TD) children, and that challenging child behaviours would positively predict PTSD symptomatology. Method The Life Events Checklist for DSM-5, Developmental Behaviour Checklist (Parent) and PTSD Checklist for DSM-5 were administered to 395 parents. Results Significantly more PTSD symptomatology was reported by parents of children with ASD and parents of children with a rare disease than parents of TD children, and challenging child behaviours positively predicted PTSD symptomatology in both groups. Conclusion A PTSD framework may validly explain elevated stress among some parents of children with ASD and parents of children with a rare disease, and has important implications for support delivered to parents by healthcare providers. En ligne : https://doi.org/10.1016/j.rasd.2019.101467 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=412 A 13-year follow-up of Finnish patients with Salla disease / L. E. PAAVOLA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : A 13-year follow-up of Finnish patients with Salla disease Type de document : Texte imprimé et/ou numérique Auteurs : L. E. PAAVOLA, Auteur ; A. M. REMES, Auteur ; M. J. HARILA, Auteur ; T. T. VARHO, Auteur ; T. T. KORHONEN, Auteur ; K. MAJAMAA, Auteur Article en page(s) : p.20 Langues : Anglais (eng) Mots-clés : Dysmyelination Follow-up study Free sialic acid storage Neurocognitive development Rare diseases Index. décimale : PER Périodiques Résumé : BACKGROUND: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. METHODS: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination. RESULTS: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients. CONCLUSIONS: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development. En ligne : http://dx.doi.org/10.1186/s11689-015-9116-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.20[article] A 13-year follow-up of Finnish patients with Salla disease [Texte imprimé et/ou numérique] / L. E. PAAVOLA, Auteur ; A. M. REMES, Auteur ; M. J. HARILA, Auteur ; T. T. VARHO, Auteur ; T. T. KORHONEN, Auteur ; K. MAJAMAA, Auteur . - p.20.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.20
Mots-clés : Dysmyelination Follow-up study Free sialic acid storage Neurocognitive development Rare diseases Index. décimale : PER Périodiques Résumé : BACKGROUND: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. METHODS: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16-65 years, 13 years after a similar examination. RESULTS: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients. CONCLUSIONS: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development. En ligne : http://dx.doi.org/10.1186/s11689-015-9116-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis / Pierre L. ROUBERTOUX
Titre : The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis Type de document : Texte imprimé et/ou numérique Auteurs : Pierre L. ROUBERTOUX, Auteur ; Sylvie TORDJMAN, Auteur Année de publication : 2015 Importance : p.29-66 Langues : Anglais (eng) Mots-clés : Autism Rare diseases DSM Synapse Neuron Genes Gene homology Transcription Signaling pathways Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 The Autistic Spectrum Disorders (ASD): From the Clinics to the Molecular Analysis [Texte imprimé et/ou numérique] / Pierre L. ROUBERTOUX, Auteur ; Sylvie TORDJMAN, Auteur . - 2015 . - p.29-66.
Langues : Anglais (eng)
Mots-clés : Autism Rare diseases DSM Synapse Neuron Genes Gene homology Transcription Signaling pathways Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire