42 recherche sur le mot-clé 'Retrospective Studies'

Co-occurring conditions in children with Down syndrome and autism: a retrospective study / Noemi A. SPINAZZI in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Co-occurring conditions in children with Down syndrome and autism: a retrospective study Type de document : texte imprimé Auteurs : Noemi A. SPINAZZI, Auteur ; Jonathan D. SANTORO, Auteur ; Katherine PAWLOWSKI, Auteur ; Gabriel ANZUETO, Auteur ; Yamini J. HOWE, Auteur ; Lina R. PATEL, Auteur ; Nicole T. BAUMER, Auteur Langues : Anglais (eng) Mots-clés : Male  Humans  Female  Autistic Disorder  Down Syndrome/complications/epidemiology  Autism Spectrum Disorder/complications/epidemiology  Retrospective Studies  Prospective Studies  Autism spectrum disorder  Co-occurring medical conditions  Comorbid  Down syndrome  Medical disease  Prevalence Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09478-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Co-occurring conditions in children with Down syndrome and autism: a retrospective study [texte imprimé] / Noemi A. SPINAZZI, Auteur ; Jonathan D. SANTORO, Auteur ; Katherine PAWLOWSKI, Auteur ; Gabriel ANZUETO, Auteur ; Yamini J. HOWE, Auteur ; Lina R. PATEL, Auteur ; Nicole T. BAUMER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Male  Humans  Female  Autistic Disorder  Down Syndrome/complications/epidemiology  Autism Spectrum Disorder/complications/epidemiology  Retrospective Studies  Prospective Studies  Autism spectrum disorder  Co-occurring medical conditions  Comorbid  Down syndrome  Medical disease  Prevalence Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. METHODS: A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. RESULTS: In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18-13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29-3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31-3.65), gastroesophageal reflux (OR 1.91, CI 1.14-3.21), behavioral feeding difficulties (OR 2.71, CI 1.02-7.19), infantile spasms (OR 6.03, CI 1.79-20.34) and scoliosis (OR 2.73, CI 1.16-6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34-0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. CONCLUSIONS: This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09478-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Sex Differences in Co-occurring Conditions Among Autistic Children and Youth in Florida: A Retrospective Cohort Study (2012-2019) / Amber M. ANGELL in Journal of Autism and Developmental Disorders, 51-10 (October 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3759-3765 Titre : Sex Differences in Co-occurring Conditions Among Autistic Children and Youth in Florida: A Retrospective Cohort Study (2012-2019) Type de document : texte imprimé Auteurs : Amber M. ANGELL, Auteur ; Alexis DEAVENPORT-SAMAN, Auteur ; Larry YIN, Auteur ; Baiming ZOU, Auteur ; Chen BAI, Auteur ; Deepthi VARMA, Auteur ; Olga SOLOMON, Auteur Article en page(s) : p.3759-3765 Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/epidemiology  Autistic Disorder/epidemiology  Child  Child, Preschool  Female  Florida/epidemiology  Humans  Infant  Male  Retrospective Studies  Sex Characteristics  Sex Factors  Young Adult  Autism spectrum disorder  Co-occurring condition  Gender  Girls  Healthcare claims  Sex Index. décimale : PER Périodiques Résumé : Autistic children have a high prevalence of co-occurring mental health, developmental/behavioral, and medical conditions, but research on sex/gender differences has been mixed. We used Florida healthcare claims data to characterize sex differences (female/male) in co-occurring conditions among autistic children ages 1-21 (N = 83,500). After adjusting for age, race, ethnicity, urbanicity, and insurance, autistic girls had significantly higher odds of anxiety disorders, mood disorders, intellectual disability, developmental disorders, epilepsy, metabolic disorders, gastrointestinal disorders, and sleep disorders compared to autistic boys. Autistic girls had significantly lower odds of ADHD. The findings contribute to the growing body of research on the unique healthcare needs of autistic girls. En ligne : http://dx.doi.org/10.1007/s10803-020-04841-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453 [article] Sex Differences in Co-occurring Conditions Among Autistic Children and Youth in Florida: A Retrospective Cohort Study (2012-2019) [texte imprimé] / Amber M. ANGELL, Auteur ; Alexis DEAVENPORT-SAMAN, Auteur ; Larry YIN, Auteur ; Baiming ZOU, Auteur ; Chen BAI, Auteur ; Deepthi VARMA, Auteur ; Olga SOLOMON, Auteur . - p.3759-3765. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-10 (October 2021) . - p.3759-3765 Mots-clés : Adolescent  Adult  Autism Spectrum Disorder/epidemiology  Autistic Disorder/epidemiology  Child  Child, Preschool  Female  Florida/epidemiology  Humans  Infant  Male  Retrospective Studies  Sex Characteristics  Sex Factors  Young Adult  Autism spectrum disorder  Co-occurring condition  Gender  Girls  Healthcare claims  Sex Index. décimale : PER Périodiques Résumé : Autistic children have a high prevalence of co-occurring mental health, developmental/behavioral, and medical conditions, but research on sex/gender differences has been mixed. We used Florida healthcare claims data to characterize sex differences (female/male) in co-occurring conditions among autistic children ages 1-21 (N = 83,500). After adjusting for age, race, ethnicity, urbanicity, and insurance, autistic girls had significantly higher odds of anxiety disorders, mood disorders, intellectual disability, developmental disorders, epilepsy, metabolic disorders, gastrointestinal disorders, and sleep disorders compared to autistic boys. Autistic girls had significantly lower odds of ADHD. The findings contribute to the growing body of research on the unique healthcare needs of autistic girls. En ligne : http://dx.doi.org/10.1007/s10803-020-04841-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453

An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities / Isabella SLABY in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities Type de document : texte imprimé Auteurs : Isabella SLABY, Auteur ; Heather S. HAIN, Auteur ; Debra ABRAMS, Auteur ; Frank D. MENTCH, Auteur ; Joseph T. GLESSNER, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Hakon HAKONARSON, Auteur Langues : Anglais (eng) Mots-clés : Algorithms  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Case-Control Studies  Child  Comorbidity  Electronic Health Records  Humans  Phenotype  Prospective Studies  Retrospective Studies Index. décimale : PER Périodiques Résumé : BACKGROUND: In over half of pediatric cases, ADHD presents with comorbidities, and often, it is unclear whether the symptoms causing impairment are due to the comorbidity or the underlying ADHD. Comorbid conditions increase the likelihood for a more severe and persistent course and complicate treatment decisions. Therefore, it is highly important to establish an algorithm that identifies ADHD and comorbidities in order to improve research on ADHD using biorepository and other electronic record data. METHODS: It is feasible to accurately distinguish between ADHD in isolation from ADHD with comorbidities using an electronic algorithm designed to include other psychiatric disorders. We sought to develop an EHR phenotype algorithm to discriminate cases with ADHD in isolation from cases with ADHD with comorbidities more effectively for efficient future searches in large biorepositories. We developed a multi-source algorithm allowing for a more complete view of the patient's EHR, leveraging the biobank of the Center for Applied Genomics (CAG) at Children's Hospital of Philadelphia (CHOP). We mined EHRs from 2009 to 2016 using International Statistical Classification of Diseases and Related Health Problems (ICD) codes, medication history and keywords specific to ADHD, and comorbid psychiatric disorders to facilitate genotype-phenotype correlation efforts. Chart abstractions and behavioral surveys added evidence in support of the psychiatric diagnoses. Most notably, the algorithm did not exclude other psychiatric disorders, as is the case in many previous algorithms. Controls lacked psychiatric and other neurological disorders. Participants enrolled in various CAG studies at CHOP and completed a broad informed consent, including consent for prospective analyses of EHRs. We created and validated an EHR-based algorithm to classify ADHD and comorbid psychiatric status in a pediatric healthcare network to be used in future genetic analyses and discovery-based studies. RESULTS: In this retrospective case-control study that included data from 51,293 subjects, 5840 ADHD cases were discovered of which 46.1% had ADHD alone and 53.9% had ADHD with psychiatric comorbidities. Our primary study outcome was to examine whether the algorithm could identify and distinguish ADHD exclusive cases from ADHD comorbid cases. The results indicate ICD codes coupled with medication searches revealed the most cases. We discovered ADHD-related keywords did not increase yield. However, we found including ADHD-specific medications increased our number of cases by 21%. Positive predictive values (PPVs) were 95% for ADHD cases and 93% for controls. CONCLUSION: We established a new algorithm and demonstrated the feasibility of the electronic algorithm approach to accurately diagnose ADHD and comorbid conditions, verifying the efficiency of our large biorepository for further genetic discovery-based analyses. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02286817 . First posted on 10 November 2014. CLINICALTRIALS: gov, NCT02777931 . First posted on 19 May 2016. CLINICALTRIALS: gov, NCT03006367 . First posted on 30 December 2016. CLINICALTRIALS: gov, NCT02895906 . First posted on 12 September 2016. En ligne : https://dx.doi.org/10.1186/s11689-022-09447-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities [texte imprimé] / Isabella SLABY, Auteur ; Heather S. HAIN, Auteur ; Debra ABRAMS, Auteur ; Frank D. MENTCH, Auteur ; Joseph T. GLESSNER, Auteur ; Patrick M.A. SLEIMAN, Auteur ; Hakon HAKONARSON, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Algorithms  Attention Deficit Disorder with  Hyperactivity/complications/diagnosis/epidemiology  Case-Control Studies  Child  Comorbidity  Electronic Health Records  Humans  Phenotype  Prospective Studies  Retrospective Studies Index. décimale : PER Périodiques Résumé : BACKGROUND: In over half of pediatric cases, ADHD presents with comorbidities, and often, it is unclear whether the symptoms causing impairment are due to the comorbidity or the underlying ADHD. Comorbid conditions increase the likelihood for a more severe and persistent course and complicate treatment decisions. Therefore, it is highly important to establish an algorithm that identifies ADHD and comorbidities in order to improve research on ADHD using biorepository and other electronic record data. METHODS: It is feasible to accurately distinguish between ADHD in isolation from ADHD with comorbidities using an electronic algorithm designed to include other psychiatric disorders. We sought to develop an EHR phenotype algorithm to discriminate cases with ADHD in isolation from cases with ADHD with comorbidities more effectively for efficient future searches in large biorepositories. We developed a multi-source algorithm allowing for a more complete view of the patient's EHR, leveraging the biobank of the Center for Applied Genomics (CAG) at Children's Hospital of Philadelphia (CHOP). We mined EHRs from 2009 to 2016 using International Statistical Classification of Diseases and Related Health Problems (ICD) codes, medication history and keywords specific to ADHD, and comorbid psychiatric disorders to facilitate genotype-phenotype correlation efforts. Chart abstractions and behavioral surveys added evidence in support of the psychiatric diagnoses. Most notably, the algorithm did not exclude other psychiatric disorders, as is the case in many previous algorithms. Controls lacked psychiatric and other neurological disorders. Participants enrolled in various CAG studies at CHOP and completed a broad informed consent, including consent for prospective analyses of EHRs. We created and validated an EHR-based algorithm to classify ADHD and comorbid psychiatric status in a pediatric healthcare network to be used in future genetic analyses and discovery-based studies. RESULTS: In this retrospective case-control study that included data from 51,293 subjects, 5840 ADHD cases were discovered of which 46.1% had ADHD alone and 53.9% had ADHD with psychiatric comorbidities. Our primary study outcome was to examine whether the algorithm could identify and distinguish ADHD exclusive cases from ADHD comorbid cases. The results indicate ICD codes coupled with medication searches revealed the most cases. We discovered ADHD-related keywords did not increase yield. However, we found including ADHD-specific medications increased our number of cases by 21%. Positive predictive values (PPVs) were 95% for ADHD cases and 93% for controls. CONCLUSION: We established a new algorithm and demonstrated the feasibility of the electronic algorithm approach to accurately diagnose ADHD and comorbid conditions, verifying the efficiency of our large biorepository for further genetic discovery-based analyses. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02286817 . First posted on 10 November 2014. CLINICALTRIALS: gov, NCT02777931 . First posted on 19 May 2016. CLINICALTRIALS: gov, NCT03006367 . First posted on 30 December 2016. CLINICALTRIALS: gov, NCT02895906 . First posted on 12 September 2016. En ligne : https://dx.doi.org/10.1186/s11689-022-09447-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Behavioral responses to fevers and other medical events in children with and without ASD / Katherine BYRNE in Autism Research, 15-11 (November 2022)  

Public ISBD [article]  inAutism Research > 15-11 (November 2022) . - p.2056-2063 Titre : Behavioral responses to fevers and other medical events in children with and without ASD Type de document : texte imprimé Auteurs : Katherine BYRNE, Auteur ; Shuting ZHENG, Auteur ; Somer L. BISHOP, Auteur ; Juliana BOUCHER, Auteur ; Sheila S. GHODS, Auteur ; So Hyun KIM, Auteur ; Catherine LORD, Auteur Article en page(s) : p.2056-2063 Langues : Anglais (eng) Mots-clés : Child  Humans  Autism Spectrum Disorder/complications/psychology  Retrospective Studies  Prospective Studies  Emotions  Parents  Fever/complications  autism spectrum disorder  behavioral symptoms  fever  illness behavior Index. décimale : PER Périodiques Résumé : Anecdotal reports and a small number of research studies suggest possible behavioral improvements in children with autism spectrum disorders (ASD) during a fever. However, previous studies rely largely on retrospective reports of this phenomenon. Establishing a robust association between fever and reduction of ASD-related symptoms would promote opportunities for the development of innovative therapeutic interventions for children with ASD. In the current study, prospective data were collected from 141 children with ASD and 103 typically developing (TD) controls using parent responses to an 11-item behavioral survey. Behaviors when no illness was present, during a fever, the week after a fever, and during non-febrile illnesses for TD and ASD children were compared. Profiles of cases in which caregivers reported consistent behavioral improvements during fever are described. Data indicated worsening social, emotional/behavioral, and somatic symptoms during a fever regardless of diagnosis, with children with ASD demonstrating greater worsening of behaviors during a fever than TD children. Only three out of 141 children with ASD demonstrated consistent behavioral improvements during a fever; these children had a range of cognitive and adaptive skills. Children with ASD had stronger negative responses to fever than TD children. These findings contradict previous literature suggesting behavioral improvements for children with ASD. While improvements may occur for some children, it does not appear to be a common phenomenon. Additional research is needed to elucidate the nature of behavioral improvements in the subset of children with ASD who may respond positively to fever. En ligne : http://dx.doi.org/10.1002/aur.2810 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Behavioral responses to fevers and other medical events in children with and without ASD [texte imprimé] / Katherine BYRNE, Auteur ; Shuting ZHENG, Auteur ; Somer L. BISHOP, Auteur ; Juliana BOUCHER, Auteur ; Sheila S. GHODS, Auteur ; So Hyun KIM, Auteur ; Catherine LORD, Auteur . - p.2056-2063. Langues : Anglais (eng) in Autism Research > 15-11 (November 2022) . - p.2056-2063 Mots-clés : Child  Humans  Autism Spectrum Disorder/complications/psychology  Retrospective Studies  Prospective Studies  Emotions  Parents  Fever/complications  autism spectrum disorder  behavioral symptoms  fever  illness behavior Index. décimale : PER Périodiques Résumé : Anecdotal reports and a small number of research studies suggest possible behavioral improvements in children with autism spectrum disorders (ASD) during a fever. However, previous studies rely largely on retrospective reports of this phenomenon. Establishing a robust association between fever and reduction of ASD-related symptoms would promote opportunities for the development of innovative therapeutic interventions for children with ASD. In the current study, prospective data were collected from 141 children with ASD and 103 typically developing (TD) controls using parent responses to an 11-item behavioral survey. Behaviors when no illness was present, during a fever, the week after a fever, and during non-febrile illnesses for TD and ASD children were compared. Profiles of cases in which caregivers reported consistent behavioral improvements during fever are described. Data indicated worsening social, emotional/behavioral, and somatic symptoms during a fever regardless of diagnosis, with children with ASD demonstrating greater worsening of behaviors during a fever than TD children. Only three out of 141 children with ASD demonstrated consistent behavioral improvements during a fever; these children had a range of cognitive and adaptive skills. Children with ASD had stronger negative responses to fever than TD children. These findings contradict previous literature suggesting behavioral improvements for children with ASD. While improvements may occur for some children, it does not appear to be a common phenomenon. Additional research is needed to elucidate the nature of behavioral improvements in the subset of children with ASD who may respond positively to fever. En ligne : http://dx.doi.org/10.1002/aur.2810 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics / Katherine CUMMINGS in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics Type de document : texte imprimé Auteurs : Katherine CUMMINGS, Auteur ; Alice WATKINS, Auteur ; Chris JONES, Auteur ; Renuka DIAS, Auteur ; Alice WELHAM, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Germ-Line Mutation  Humans  Mutation  PTEN Phosphohydrolase/genetics  Prevalence  Retrospective Studies  Autism spectrum disorder  Behaviour  Cognition  Development  Emotional difficulties  Pten  PTEN hamartoma tumour syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Phosphatase and tensin homologue (PTEN) is a cancer suppressor gene. Constitutional mutations affecting this gene are associated with several conditions, collectively termed PTEN hamartoma tumour syndromes (PHTS). In addition to hamartomas, PTEN aberrations have been associated with a range of non-tumoural phenotypes such as macrocephaly, and research indicates possibly increased rates of developmental delay and autism spectrum disorder (ASD) for people with germline mutations affecting PTEN. METHOD: A systematic review of literature reporting behavioural and psychological variables for people with constitutional PTEN mutations/PHTS was conducted using four databases. Following in-depth screening, 25 articles met the inclusion criteria and were used in the review. Fourteen papers reported the proportion of people with PTEN mutations/PTHS meeting criteria for or having characteristics of ASD and were thus used in a pooled prevalence meta-analysis. RESULTS: Meta-analysis using a random effects model estimated pooled prevalence of ASD characteristics at 25% (95% CI 16-33%), although this should be interpreted cautiously due to possible biases in existing literature. Intellectual disability and developmental delay (global, motor and speech and language) were also reported frequently. Emotional difficulties and impaired cognitive functioning in specific domains were noted but assessed/reported less frequently. Methods of assessment of psychological/behavioural factors varied widely (with retrospective examination of medical records common). CONCLUSIONS: Existing research suggests approximately 25% of people with constitutional PTEN mutations may meet criteria for or have characteristics of ASD. Studies have also begun to establish a range of possible cognitive impairments in affected individuals, especially when ASD is also reported. However, further large-scale studies are needed to elucidate psychological/behavioural corollaries of this mutation, and how they may relate to physiological/physical characteristics. En ligne : https://dx.doi.org/10.1186/s11689-021-09406-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics [texte imprimé] / Katherine CUMMINGS, Auteur ; Alice WATKINS, Auteur ; Chris JONES, Auteur ; Renuka DIAS, Auteur ; Alice WELHAM, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Germ-Line Mutation  Humans  Mutation  PTEN Phosphohydrolase/genetics  Prevalence  Retrospective Studies  Autism spectrum disorder  Behaviour  Cognition  Development  Emotional difficulties  Pten  PTEN hamartoma tumour syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Phosphatase and tensin homologue (PTEN) is a cancer suppressor gene. Constitutional mutations affecting this gene are associated with several conditions, collectively termed PTEN hamartoma tumour syndromes (PHTS). In addition to hamartomas, PTEN aberrations have been associated with a range of non-tumoural phenotypes such as macrocephaly, and research indicates possibly increased rates of developmental delay and autism spectrum disorder (ASD) for people with germline mutations affecting PTEN. METHOD: A systematic review of literature reporting behavioural and psychological variables for people with constitutional PTEN mutations/PHTS was conducted using four databases. Following in-depth screening, 25 articles met the inclusion criteria and were used in the review. Fourteen papers reported the proportion of people with PTEN mutations/PTHS meeting criteria for or having characteristics of ASD and were thus used in a pooled prevalence meta-analysis. RESULTS: Meta-analysis using a random effects model estimated pooled prevalence of ASD characteristics at 25% (95% CI 16-33%), although this should be interpreted cautiously due to possible biases in existing literature. Intellectual disability and developmental delay (global, motor and speech and language) were also reported frequently. Emotional difficulties and impaired cognitive functioning in specific domains were noted but assessed/reported less frequently. Methods of assessment of psychological/behavioural factors varied widely (with retrospective examination of medical records common). CONCLUSIONS: Existing research suggests approximately 25% of people with constitutional PTEN mutations may meet criteria for or have characteristics of ASD. Studies have also begun to establish a range of possible cognitive impairments in affected individuals, especially when ASD is also reported. However, further large-scale studies are needed to elucidate psychological/behavioural corollaries of this mutation, and how they may relate to physiological/physical characteristics. En ligne : https://dx.doi.org/10.1186/s11689-021-09406-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Editorial: Environmental conditions for growing healthy children / Joan L. LUBY in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)  

Permalink

Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder / Jonathan D. SANTORO in Journal of Neurodevelopmental Disorders, 14 (2022)  

Permalink

Examining factors related to the age of diagnosis of children with autism spectrum disorder from immigrant and non-immigrant backgrounds in a diverse clinical sample / Sandra B. VANEGAS in Autism Research, 14-6 (June 2021)  

Permalink

Immediate and longitudinal effects of maltreatment on systemic inflammation in young children / Sonja ENTRINGER in Development and Psychopathology, 32-5 (December 2020)  

Permalink

No evidence of early head circumference enlargements in children later diagnosed with autism in Israel / Ilan DINSTEIN in Molecular Autism, 8 (2017)  

Permalink