907 recherche sur le mot-clé 'developmental-delay'

Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism / Christopher J. SMITH in Journal of Child Psychology and Psychiatry, 50-8 (August 2009)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 50-8 (August 2009) . - p.982-990 Titre : Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism Type de document : texte imprimé Auteurs : Christopher J. SMITH, Auteur ; Eric HOLLANDER, Auteur ; Colleen M. LANG, Auteur ; Lauren KRYZAK, Auteur ; Abraham REICHENBERG, Auteur ; Jeremy M. SILVERMAN, Auteur Année de publication : 2009 Article en page(s) : p.982-990 Langues : Anglais (eng) Mots-clés : Developmental-delay family-factors fathers genetics autistic-disorder Index. décimale : PER Périodiques Résumé : Background: Clinical heterogeneity of autism likely hinders efforts to find genes associated with this complex psychiatric disorder. Some studies have produced promising results by restricting the sample according to the expression of specific familial factors or components of autism. Previous factor analyses of the restricted, repetitive behaviors and interest (RRBI) domain of autism have consistently identified a two-factor model that explains a moderate amount of variance. The identification of additional factors may explain more variance in the RRBI domain and provide an additional component of autism that may help in the identification of underlying genetic association. Methods: We conducted factor analyses of RRBI symptoms with a sample that included verbal subjects meeting full criteria for autism aged 5 to 22 years (n = 245). Among affected sibling pairs (n = 126) we examined the familial aggregation of the identified factors. We also examined the associations of the factors with autism-related personality traits in fathers and mothers (n = 50). Results: The previously identified two-factor model – insistence on sameness (IS) and repetitive stereotypic motor behaviors (RSMB) – was replicated in our sample. Next, a second factor analysis that included the item for verbal rituals resulted in a four-factor model – IS, 'simple' RSMB, 'complex' RSMB, and a fourth factor including symptoms associated with intense preoccupations (IP). Of these four, both IS and IP were significantly familial among affected siblings, but only IP was significantly correlated with the broader autism phenotype traits of rigidity and aloofness in fathers. Conclusions: The results support previous evidence for the IS factor, its familiality, and the identification of IP as an additional strong candidate trait for genetic studies of autism. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02060.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=788 [article] Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism [texte imprimé] / Christopher J. SMITH, Auteur ; Eric HOLLANDER, Auteur ; Colleen M. LANG, Auteur ; Lauren KRYZAK, Auteur ; Abraham REICHENBERG, Auteur ; Jeremy M. SILVERMAN, Auteur . - 2009 . - p.982-990. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 50-8 (August 2009) . - p.982-990 Mots-clés : Developmental-delay family-factors fathers genetics autistic-disorder Index. décimale : PER Périodiques Résumé : Background: Clinical heterogeneity of autism likely hinders efforts to find genes associated with this complex psychiatric disorder. Some studies have produced promising results by restricting the sample according to the expression of specific familial factors or components of autism. Previous factor analyses of the restricted, repetitive behaviors and interest (RRBI) domain of autism have consistently identified a two-factor model that explains a moderate amount of variance. The identification of additional factors may explain more variance in the RRBI domain and provide an additional component of autism that may help in the identification of underlying genetic association. Methods: We conducted factor analyses of RRBI symptoms with a sample that included verbal subjects meeting full criteria for autism aged 5 to 22 years (n = 245). Among affected sibling pairs (n = 126) we examined the familial aggregation of the identified factors. We also examined the associations of the factors with autism-related personality traits in fathers and mothers (n = 50). Results: The previously identified two-factor model – insistence on sameness (IS) and repetitive stereotypic motor behaviors (RSMB) – was replicated in our sample. Next, a second factor analysis that included the item for verbal rituals resulted in a four-factor model – IS, 'simple' RSMB, 'complex' RSMB, and a fourth factor including symptoms associated with intense preoccupations (IP). Of these four, both IS and IP were significantly familial among affected siblings, but only IP was significantly correlated with the broader autism phenotype traits of rigidity and aloofness in fathers. Conclusions: The results support previous evidence for the IS factor, its familiality, and the identification of IP as an additional strong candidate trait for genetic studies of autism. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02060.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=788

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / Tara L. WENGER in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 27p. Titre : 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : texte imprimé Auteurs : Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [texte imprimé] / Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 27p. Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Acquisition of sentence frame discrimination using the iPad™ as a speech generating device in young children with developmental disabilities / Elizabeth R. LORAH in Research in Autism Spectrum Disorders, 8-12 (December 2014)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 8-12 (December 2014) . - p.1734-1740 Titre : Acquisition of sentence frame discrimination using the iPad™ as a speech generating device in young children with developmental disabilities Type de document : texte imprimé Auteurs : Elizabeth R. LORAH, Auteur ; Ashley PARNELL, Auteur ; D. Renee SPEIGHT, Auteur Article en page(s) : p.1734-1740 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Developmental delay  Speech generating device  iPad™  Tact Index. décimale : PER Périodiques Résumé : Abstract This study evaluated the use of the iPad™ and application Proloqu2Go as a speech generating device (SGD) for the acquisition of a tact (labeling) repertoire in three preschool aged children with Autism Spectrum Disorder or developmental delay. Additionally, discrimination between picture icons and sentence frames were investigated. Using a five second time delay, with full physical prompts, participants were taught to label four items using the carrier phrases “I see” and “I have”. Following the acquisition of those frames in isolation, training on discriminating between those frames was introduced. The results indicate that the training procedures were effective for this purpose, thus contributing to the already existing literature on the use of handheld computing devices as SGD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.09.004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243 [article] Acquisition of sentence frame discrimination using the iPad™ as a speech generating device in young children with developmental disabilities [texte imprimé] / Elizabeth R. LORAH, Auteur ; Ashley PARNELL, Auteur ; D. Renee SPEIGHT, Auteur . - p.1734-1740. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 8-12 (December 2014) . - p.1734-1740 Mots-clés : Autism Spectrum Disorder  Developmental delay  Speech generating device  iPad™  Tact Index. décimale : PER Périodiques Résumé : Abstract This study evaluated the use of the iPad™ and application Proloqu2Go as a speech generating device (SGD) for the acquisition of a tact (labeling) repertoire in three preschool aged children with Autism Spectrum Disorder or developmental delay. Additionally, discrimination between picture icons and sentence frames were investigated. Using a five second time delay, with full physical prompts, participants were taught to label four items using the carrier phrases “I see” and “I have”. Following the acquisition of those frames in isolation, training on discriminating between those frames was introduced. The results indicate that the training procedures were effective for this purpose, thus contributing to the already existing literature on the use of handheld computing devices as SGD. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.09.004 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=243

Adapting and pre-testing the World Health Organization's Caregiver Skills Training programme for autism and other developmental disorders in a very low-resource setting: Findings from Ethiopia / Bethlehem TEKOLA in Autism, 24-1 (January 2020)  

Public ISBD [article]  inAutism > 24-1 (January 2020) . - p.51-63 Titre : Adapting and pre-testing the World Health Organization's Caregiver Skills Training programme for autism and other developmental disorders in a very low-resource setting: Findings from Ethiopia Type de document : texte imprimé Auteurs : Bethlehem TEKOLA, Auteur ; Fikirte GIRMA, Auteur ; Mersha KINFE, Auteur ; Rehana ABDURAHMAN, Auteur ; Markos TESFAYE, Auteur ; Zemi YENUS, Auteur ; Erica SALOMONE, Auteur ; Laura PACIONE, Auteur ; Abebaw FEKADU, Auteur ; Chiara SERVILI, Auteur ; Charlotte HANLON, Auteur ; Rosa A. HOEKSTRA, Auteur Article en page(s) : p.51-63 Langues : Anglais (eng) Mots-clés : Ethiopia  caregivers  developmental delay  developmental disorders  parent-mediated  parenting skills programme  qualitative Index. décimale : PER Périodiques Résumé : The World Health Organization's Caregiver Skills Training programme for children with developmental disorders or delays teaches caregivers strategies to help them support their child's development. Ethiopia has a severe lack of services for children with developmental disorders or delays. This study explored the perspectives of Ethiopian caregivers, professionals and other stakeholders to inform adaptation and implementation of the World Health Organization's Caregiver Skills Training in Ethiopia. Data collection included (1) a consultation and review, comprising stakeholder meetings, review of draft Caregiver Skills Training materials and feedback from Ethiopian Master Trainees and (2) a pre-pilot including quantitative feasibility and acceptability measures and qualitative interviews with caregivers (n = 9) and programme facilitators/observers (n = 5). The consultation participants indicated that the Caregiver Skills Training addresses an urgent need and is relevant to the Ethiopian context. Several adaptations were proposed, including more emphasis on psycho-education, stigma, parental feelings of guilt and expectations of a cure. The adapted Caregiver Skills Training was pre-piloted with excellent participation (100%) and retention (90%) rates. Four themes were developed from the qualitative data: (1) Programme acceptability and relevance, (2) Perceived programme benefits, (3) Challenges and barriers and (4) Suggestions for improvement. The World Health Organization's Caregiver Skills Training addresses a local need and, with careful adaptations, is feasible and acceptable to be implemented in Ethiopia. These findings may have relevance to low-resource settings worldwide. En ligne : http://dx.doi.org/10.1177/1362361319848532 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Adapting and pre-testing the World Health Organization's Caregiver Skills Training programme for autism and other developmental disorders in a very low-resource setting: Findings from Ethiopia [texte imprimé] / Bethlehem TEKOLA, Auteur ; Fikirte GIRMA, Auteur ; Mersha KINFE, Auteur ; Rehana ABDURAHMAN, Auteur ; Markos TESFAYE, Auteur ; Zemi YENUS, Auteur ; Erica SALOMONE, Auteur ; Laura PACIONE, Auteur ; Abebaw FEKADU, Auteur ; Chiara SERVILI, Auteur ; Charlotte HANLON, Auteur ; Rosa A. HOEKSTRA, Auteur . - p.51-63. Langues : Anglais (eng) in Autism > 24-1 (January 2020) . - p.51-63 Mots-clés : Ethiopia  caregivers  developmental delay  developmental disorders  parent-mediated  parenting skills programme  qualitative Index. décimale : PER Périodiques Résumé : The World Health Organization's Caregiver Skills Training programme for children with developmental disorders or delays teaches caregivers strategies to help them support their child's development. Ethiopia has a severe lack of services for children with developmental disorders or delays. This study explored the perspectives of Ethiopian caregivers, professionals and other stakeholders to inform adaptation and implementation of the World Health Organization's Caregiver Skills Training in Ethiopia. Data collection included (1) a consultation and review, comprising stakeholder meetings, review of draft Caregiver Skills Training materials and feedback from Ethiopian Master Trainees and (2) a pre-pilot including quantitative feasibility and acceptability measures and qualitative interviews with caregivers (n = 9) and programme facilitators/observers (n = 5). The consultation participants indicated that the Caregiver Skills Training addresses an urgent need and is relevant to the Ethiopian context. Several adaptations were proposed, including more emphasis on psycho-education, stigma, parental feelings of guilt and expectations of a cure. The adapted Caregiver Skills Training was pre-piloted with excellent participation (100%) and retention (90%) rates. Four themes were developed from the qualitative data: (1) Programme acceptability and relevance, (2) Perceived programme benefits, (3) Challenges and barriers and (4) Suggestions for improvement. The World Health Organization's Caregiver Skills Training addresses a local need and, with careful adaptations, is feasible and acceptable to be implemented in Ethiopia. These findings may have relevance to low-resource settings worldwide. En ligne : http://dx.doi.org/10.1177/1362361319848532 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Age of First Words Predicts Cognitive Ability and Adaptive Skills in Children with ASD / Jessica MAYO in Journal of Autism and Developmental Disorders, 43-2 (February 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-2 (February 2013) . - p.253-264 Titre : Age of First Words Predicts Cognitive Ability and Adaptive Skills in Children with ASD Type de document : texte imprimé Auteurs : Jessica MAYO, Auteur ; Colby CHLEBOWSKI, Auteur ; Deborah A. FEIN, Auteur ; Inge-Marie EIGSTI, Auteur Année de publication : 2013 Article en page(s) : p.253-264 Langues : (Eng) Mots-clés : Autism  Autism spectrum disorders  Language acquisition  Language delay  Developmental milestones  Prognosis Index. décimale : PER Périodiques Résumé : Acquiring useful language by age 5 has been identified as a strong predictor of positive outcomes in individuals with Autism Spectrum Disorders (ASD). This study examined the relationship between age of language acquisition and later functioning in children with ASD (n = 119). First word acquisition at a range of ages was probed for its relationship to cognitive ability and adaptive behaviors at 52 months. Results indicated that although producing first words predicted better outcome at every age examined, producing first words by 24 months was a particularly strong predictor of better outcomes. This finding suggests that the historic criterion for positive prognosis (i.e., 'useful language by age 5') can be updated to a more specific criterion with an earlier developmental time point. En ligne : http://dx.doi.org/10.1007/s10803-012-1558-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 [article] Age of First Words Predicts Cognitive Ability and Adaptive Skills in Children with ASD [texte imprimé] / Jessica MAYO, Auteur ; Colby CHLEBOWSKI, Auteur ; Deborah A. FEIN, Auteur ; Inge-Marie EIGSTI, Auteur . - 2013 . - p.253-264. Langues : (Eng) in Journal of Autism and Developmental Disorders > 43-2 (February 2013) . - p.253-264 Mots-clés : Autism  Autism spectrum disorders  Language acquisition  Language delay  Developmental milestones  Prognosis Index. décimale : PER Périodiques Résumé : Acquiring useful language by age 5 has been identified as a strong predictor of positive outcomes in individuals with Autism Spectrum Disorders (ASD). This study examined the relationship between age of language acquisition and later functioning in children with ASD (n = 119). First word acquisition at a range of ages was probed for its relationship to cognitive ability and adaptive behaviors at 52 months. Results indicated that although producing first words predicted better outcome at every age examined, producing first words by 24 months was a particularly strong predictor of better outcomes. This finding suggests that the historic criterion for positive prognosis (i.e., 'useful language by age 5') can be updated to a more specific criterion with an earlier developmental time point. En ligne : http://dx.doi.org/10.1007/s10803-012-1558-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187

ASD Screening with the Child Behavior Checklist/1.5-5 in the Study to Explore Early Development / Susan E. LEVY in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

Permalink

Atypical attention to voice in toddlers and pre-schoolers with autism spectrum disorder is related to unimpaired cognitive abilities. An ERP study / Alessandra PIATTI in Research in Autism Spectrum Disorders, 86 (August 2021)  

Permalink

Atypical Lexical/Semantic Processing in High-Functioning Autism Spectrum Disorders without Early Language Delay / Yoko KAMIO in Journal of Autism and Developmental Disorders, 37-6 (July 2007)  

Permalink

Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome / Rebecca M. POLLAK in Molecular Autism, 13 (2022)  

Permalink

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems / S. CHENIER in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Permalink