2 recherche sur le mot-clé 'Cdd'

Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression / Martin John ELLIS in Journal of Autism and Developmental Disorders, 52-4 (April 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-4 (April 2022) . - p.1495-1506 Titre : Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression Type de document : Texte imprimé et/ou numérique Auteurs : Martin John ELLIS, Auteur ; Kenneth LARSEN, Auteur ; Sophie Seychelle HAVIGHURST, Auteur Article en page(s) : p.1495-1506 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Child  Child Development Disorders, Pervasive/diagnosis  Child, Preschool  Humans  Language  Norway  Parents  Autism  Cdd  Childhood Disintegrative Disorder  Heller Syndrome  Regression  financial or non-financial conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Childhood Disintegrative Disorder (CDD) is a rare and little researched developmental disorder characterised by regression in language and social skills after a period of seemingly normal development until at least the age of 2 years. The study contacted all parents of CDD patients in Norway to assess patient symptomatology and parents' experiences of regression via questionnaire or interview. There were 12 participants. Symptomatology was in-line with previous studies, with universal regression in language and social skills and onset predominantly at 2-4 years. Regression was connected to feelings of 'loss' and uncertainty over the prognosis for CDD patients. The study supported CDD diagnostic criteria and showed that CDD patient regression has profound implications for parental well-being. En ligne : http://dx.doi.org/10.1007/s10803-021-05023-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression [Texte imprimé et/ou numérique] / Martin John ELLIS, Auteur ; Kenneth LARSEN, Auteur ; Sophie Seychelle HAVIGHURST, Auteur . - p.1495-1506. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-4 (April 2022) . - p.1495-1506 Mots-clés : Autism Spectrum Disorder  Child  Child Development Disorders, Pervasive/diagnosis  Child, Preschool  Humans  Language  Norway  Parents  Autism  Cdd  Childhood Disintegrative Disorder  Heller Syndrome  Regression  financial or non-financial conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Childhood Disintegrative Disorder (CDD) is a rare and little researched developmental disorder characterised by regression in language and social skills after a period of seemingly normal development until at least the age of 2 years. The study contacted all parents of CDD patients in Norway to assess patient symptomatology and parents' experiences of regression via questionnaire or interview. There were 12 participants. Symptomatology was in-line with previous studies, with universal regression in language and social skills and onset predominantly at 2-4 years. Regression was connected to feelings of 'loss' and uncertainty over the prognosis for CDD patients. The study supported CDD diagnostic criteria and showed that CDD patient regression has profound implications for parental well-being. En ligne : http://dx.doi.org/10.1007/s10803-021-05023-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

Autistic-relevant behavioral phenotypes of a mouse model of cyclin-dependent kinase-like 5 deficiency disorder / Oceane COIFFARD ; Celeste FERRAGUTO ; Athanasios MANOLIS ; Elisabetta CIANI ; Susanna PIETROPAOLO in Autism Research, 17-9 (September 2024)  

Public ISBD [article]  inAutism Research > 17-9 (September 2024) . - p.1742-1759 Titre : Autistic-relevant behavioral phenotypes of a mouse model of cyclin-dependent kinase-like 5 deficiency disorder Type de document : Texte imprimé et/ou numérique Auteurs : Oceane COIFFARD, Auteur ; Celeste FERRAGUTO, Auteur ; Athanasios MANOLIS, Auteur ; Elisabetta CIANI, Auteur ; Susanna PIETROPAOLO, Auteur Article en page(s) : p.1742-1759 Langues : Anglais (eng) Mots-clés : acoustic startle  CDD  mouse pups  neurodevelopmental disorders  social behaviors  social interaction  ultrasonic vocalizations Index. décimale : PER Périodiques Résumé : Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene and characterized by early-onset epilepsy, intellectual disability, and autistic features. To date, the etiological mechanisms underlying CDD are largely unknown and no effective therapies are available. The Cdkl5 knock-out (KO) mouse has been broadly employed in preclinical studies on CDD; Cdkl5-KO mice display neurobehavioral abnormalities recapitulating most CDD symptoms, including alterations in motor, sensory, cognitive, and social abilities. However, most available preclinical studies have been carried out on adult Cdkl5-KO mice, so little is known about the phenotypic characteristics of this model earlier during development. Furthermore, major autistic-relevant phenotypes, for example, social and communication deficits, have been poorly investigated and mostly in male mutants. Here, we assessed the autistic-relevant behavioral phenotypes of Cdkl5-KO mice during the first three post-natal weeks and in adulthood. Males and females were tested, the latter including both heterozygous and homozygous mutants. Cdkl5 mutant pups showed qualitative and quantitative alterations in ultrasonic communication, detected first at 2?weeks of age and confirmed later in adulthood. Increased levels of anxiety-like behaviors were observed in mutants at 3?weeks and in adulthood, when stereotypies, reduced social interaction and memory deficits were also observed. These behavioral effects of the mutation were evident in both sexes, being more marked and varied in homozygous than heterozygous females. These findings provide novel evidence for the autistic-relevant behavioral profile of the Cdkl5 mouse model, thus supporting its use in future preclinical studies investigating CDD pathology and autism spectrum disorders. En ligne : https://doi.org/10.1002/aur.3226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=535 [article] Autistic-relevant behavioral phenotypes of a mouse model of cyclin-dependent kinase-like 5 deficiency disorder [Texte imprimé et/ou numérique] / Oceane COIFFARD, Auteur ; Celeste FERRAGUTO, Auteur ; Athanasios MANOLIS, Auteur ; Elisabetta CIANI, Auteur ; Susanna PIETROPAOLO, Auteur . - p.1742-1759. Langues : Anglais (eng) in Autism Research > 17-9 (September 2024) . - p.1742-1759 Mots-clés : acoustic startle  CDD  mouse pups  neurodevelopmental disorders  social behaviors  social interaction  ultrasonic vocalizations Index. décimale : PER Périodiques Résumé : Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene and characterized by early-onset epilepsy, intellectual disability, and autistic features. To date, the etiological mechanisms underlying CDD are largely unknown and no effective therapies are available. The Cdkl5 knock-out (KO) mouse has been broadly employed in preclinical studies on CDD; Cdkl5-KO mice display neurobehavioral abnormalities recapitulating most CDD symptoms, including alterations in motor, sensory, cognitive, and social abilities. However, most available preclinical studies have been carried out on adult Cdkl5-KO mice, so little is known about the phenotypic characteristics of this model earlier during development. Furthermore, major autistic-relevant phenotypes, for example, social and communication deficits, have been poorly investigated and mostly in male mutants. Here, we assessed the autistic-relevant behavioral phenotypes of Cdkl5-KO mice during the first three post-natal weeks and in adulthood. Males and females were tested, the latter including both heterozygous and homozygous mutants. Cdkl5 mutant pups showed qualitative and quantitative alterations in ultrasonic communication, detected first at 2?weeks of age and confirmed later in adulthood. Increased levels of anxiety-like behaviors were observed in mutants at 3?weeks and in adulthood, when stereotypies, reduced social interaction and memory deficits were also observed. These behavioral effects of the mutation were evident in both sexes, being more marked and varied in homozygous than heterozygous females. These findings provide novel evidence for the autistic-relevant behavioral profile of the Cdkl5 mouse model, thus supporting its use in future preclinical studies investigating CDD pathology and autism spectrum disorders. En ligne : https://doi.org/10.1002/aur.3226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=535