8 recherche sur le mot-clé 'Consent for publication: Not applicable. Competing interests: The authors declare'

Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome / Elisabeth M. DYKENS in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome Type de document : texte imprimé Auteurs : Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; Theresa V. STRONG, Auteur Langues : Anglais (eng) Mots-clés : Humans  Prader-Willi Syndrome/psychology/complications  Female  Male  Child  Psychometrics  Hyperphagia/etiology/psychology/diagnosis  Surveys and Questionnaires  Adult  Adolescent  Parents/psychology  Child, Preschool  Food Safety  Reproducibility of Results  Family/psychology  Feeding Behavior  Clinical trials  Hyperphagia  PWS food safety  Prader-Willi syndrome  this study was obtained by the Vanderbilt University Institutional Review Board,  Integrated Science Committee, under the auspices of the University’s Human  Research Protections Program. Vanderbilt participants provided written, informed  consent using the e-consent function of RedCap, a secure, web-based data  collection platform. After consenting, parents were invited to complete 3  questionnaires on RedCap. Additional study approval was obtained for participants  recruited from the Foundation for Prader-Willi Research (FPWR) Patient Registry.  Prior to collecting data from the Registry, the study was reviewed and approved  by FPWR’s research committee and IRB. All registrants in FPWR’s Patient Registry  gave approval for their de-identified data to be used for research purposes.  Consent for publication: Not Applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS), a genetic neurodevelopmental disorder, is characterized by hyperphagia and significant behavioral problems. Hyperphagic individuals with PWS are chronically hungry yet rarely feel sated, and often engage in food-seeking behaviors. To avoid life-threatening obesity in their children, families implement food security strategies (e.g., locking food sources, constant supervision around food, alerting others). Although widely used, these strategies have yet to be systematically examined. We thus developed and analyzed the psychometric properties of a new measure of these diverse strategies, the Food Safe Zone, and evaluated them in relation to hyperphagic symptoms and demographic variables. In doing so, we also shine a light on the extraordinary efforts of families in managing their children's hyperphagia. METHODS: Our team developed 20 FSZ items that were revised for clarity and completeness in an iterative feedback process with stakeholders, including parents, PWS specialists, and individuals with PWS. The FSZ was pilot tested, descriptive findings were reviewed by additional stakeholders, and then administered to 624 parents in a large-scale study. Based on an open-ended question, "Is there anything else you do to ensure food safety?" two additional items were added and evaluated in a follow-up study. RESULTS: Principal component analyses revealed that 21 FSZ items loaded onto 5 factors that were readily interpretable, accounting for 67% of test variance: Alerting Others and Food Supervision in the Community; Locking or Restricting Food Sources; Checking for Food; At Home Supervision and Meals; and Avoiding Food Settings. Internal consistency and test-rest reliability were robust. Convergent validity analyses revealed that parents implemented FSZ strategies in response to the severity of their child's hyperphagia, and not their child's age, gender or PWS genetic subtype. CONCLUSIONS: The psychometrically sound FSZ holds promise for future research, especially on the effects of food safety tactics on family members. In future clinical trials, the FSZ could also be used to help parents think critically about their food safety tactics in relation to their child's hyperphagia, or as an exploratory endpoint; if hyperphagia is lessened, so too may food safety tactics, thereby enhancing familial quality of life. En ligne : https://dx.doi.org/10.1186/s11689-024-09589-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome [texte imprimé] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur ; Theresa V. STRONG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Prader-Willi Syndrome/psychology/complications  Female  Male  Child  Psychometrics  Hyperphagia/etiology/psychology/diagnosis  Surveys and Questionnaires  Adult  Adolescent  Parents/psychology  Child, Preschool  Food Safety  Reproducibility of Results  Family/psychology  Feeding Behavior  Clinical trials  Hyperphagia  PWS food safety  Prader-Willi syndrome  this study was obtained by the Vanderbilt University Institutional Review Board,  Integrated Science Committee, under the auspices of the University’s Human  Research Protections Program. Vanderbilt participants provided written, informed  consent using the e-consent function of RedCap, a secure, web-based data  collection platform. After consenting, parents were invited to complete 3  questionnaires on RedCap. Additional study approval was obtained for participants  recruited from the Foundation for Prader-Willi Research (FPWR) Patient Registry.  Prior to collecting data from the Registry, the study was reviewed and approved  by FPWR’s research committee and IRB. All registrants in FPWR’s Patient Registry  gave approval for their de-identified data to be used for research purposes.  Consent for publication: Not Applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS), a genetic neurodevelopmental disorder, is characterized by hyperphagia and significant behavioral problems. Hyperphagic individuals with PWS are chronically hungry yet rarely feel sated, and often engage in food-seeking behaviors. To avoid life-threatening obesity in their children, families implement food security strategies (e.g., locking food sources, constant supervision around food, alerting others). Although widely used, these strategies have yet to be systematically examined. We thus developed and analyzed the psychometric properties of a new measure of these diverse strategies, the Food Safe Zone, and evaluated them in relation to hyperphagic symptoms and demographic variables. In doing so, we also shine a light on the extraordinary efforts of families in managing their children's hyperphagia. METHODS: Our team developed 20 FSZ items that were revised for clarity and completeness in an iterative feedback process with stakeholders, including parents, PWS specialists, and individuals with PWS. The FSZ was pilot tested, descriptive findings were reviewed by additional stakeholders, and then administered to 624 parents in a large-scale study. Based on an open-ended question, "Is there anything else you do to ensure food safety?" two additional items were added and evaluated in a follow-up study. RESULTS: Principal component analyses revealed that 21 FSZ items loaded onto 5 factors that were readily interpretable, accounting for 67% of test variance: Alerting Others and Food Supervision in the Community; Locking or Restricting Food Sources; Checking for Food; At Home Supervision and Meals; and Avoiding Food Settings. Internal consistency and test-rest reliability were robust. Convergent validity analyses revealed that parents implemented FSZ strategies in response to the severity of their child's hyperphagia, and not their child's age, gender or PWS genetic subtype. CONCLUSIONS: The psychometrically sound FSZ holds promise for future research, especially on the effects of food safety tactics on family members. In future clinical trials, the FSZ could also be used to help parents think critically about their food safety tactics in relation to their child's hyperphagia, or as an exploratory endpoint; if hyperphagia is lessened, so too may food safety tactics, thereby enhancing familial quality of life. En ligne : https://dx.doi.org/10.1186/s11689-024-09589-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples / James J. LI in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples Type de document : texte imprimé Auteurs : James J. LI, Auteur ; Quanfa HE, Auteur ; Stephen DORN, Auteur ; Zihang WANG, Auteur ; Qiongshi LU, Auteur Langues : Anglais (eng) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/genetics/diagnosis/epidemiology  Multifactorial Inheritance/genetics  Autism Spectrum Disorder/genetics/diagnosis/epidemiology  Male  Female  Child  Adolescent  Cohort Studies  Autistic Disorder/genetics  Adhd  Asd  GenomicSEM  Neurodevelopment  Polygenic scores  Neurodevelopmental Cohort (PNC) and the Simons Foundation Powering Autism  Research for Knowledge (SPARK) datasets are both publicly available,  de-identified datasets. This study was exempt from requiring approval from the  University of Wisconsin-Madison Health Sciences Institutional Review Board (see  "Category 4" exemption: https://kb.wisc.edu/gsadminkb/page.php?id=29465 ).  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Polygenic scores (PGS) are widely used in psychiatric genetic associations studies due to their predictive power for focal outcomes. However, they lack discriminatory power, in part due to the high degree of genetic overlap between psychiatric disorders. The lack of prediction specificity limits the clinical utility of psychiatric PGS, particularly for diagnostic applications. The goal of the study was to enhance the discriminatory power of psychiatric PGS for two highly comorbid and genetically correlated neurodevelopmental disorders in ADHD and autism spectrum disorder (ASD). METHODS: Genomic structural equation modeling (GenomicSEM) was used to generate novel PGS for ADHD and ASD by accounting for the genetic overlap between these disorders (and eight others) to achieve greater discriminatory power in non-focal outcome predictions. PGS associations were tested in two large independent samples - the Philadelphia Neurodevelopmental Cohort (N = 4,789) and the Simons Foundation Powering Autism Research for Knowledge (SPARK) ASD and sibling controls (N = 5,045) cohort. RESULTS: PGS from GenomicSEM achieved superior discriminatory power in terms of showing significantly attenuated associations with non-focal outcomes relative to traditionally computed PGS for these disorders. Additionally, genetic correlations between GenomicSEM PGS for ASD and ADHD were significantly attenuated in cross-trait associations with other psychiatric disorders and outcomes. CONCLUSIONS: Psychiatric PGS associations are likely inflated by the high degree of genetic overlap between the psychiatric disorders. Methods such as GenomicSEM can be used to refine PGS signals to be more disorder-specific, thereby enhancing their discriminatory power for future diagnostic applications. En ligne : https://dx.doi.org/10.1186/s11689-025-09620-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples [texte imprimé] / James J. LI, Auteur ; Quanfa HE, Auteur ; Stephen DORN, Auteur ; Zihang WANG, Auteur ; Qiongshi LU, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Attention Deficit Disorder with Hyperactivity/genetics/diagnosis/epidemiology  Multifactorial Inheritance/genetics  Autism Spectrum Disorder/genetics/diagnosis/epidemiology  Male  Female  Child  Adolescent  Cohort Studies  Autistic Disorder/genetics  Adhd  Asd  GenomicSEM  Neurodevelopment  Polygenic scores  Neurodevelopmental Cohort (PNC) and the Simons Foundation Powering Autism  Research for Knowledge (SPARK) datasets are both publicly available,  de-identified datasets. This study was exempt from requiring approval from the  University of Wisconsin-Madison Health Sciences Institutional Review Board (see  "Category 4" exemption: https://kb.wisc.edu/gsadminkb/page.php?id=29465 ).  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Polygenic scores (PGS) are widely used in psychiatric genetic associations studies due to their predictive power for focal outcomes. However, they lack discriminatory power, in part due to the high degree of genetic overlap between psychiatric disorders. The lack of prediction specificity limits the clinical utility of psychiatric PGS, particularly for diagnostic applications. The goal of the study was to enhance the discriminatory power of psychiatric PGS for two highly comorbid and genetically correlated neurodevelopmental disorders in ADHD and autism spectrum disorder (ASD). METHODS: Genomic structural equation modeling (GenomicSEM) was used to generate novel PGS for ADHD and ASD by accounting for the genetic overlap between these disorders (and eight others) to achieve greater discriminatory power in non-focal outcome predictions. PGS associations were tested in two large independent samples - the Philadelphia Neurodevelopmental Cohort (N = 4,789) and the Simons Foundation Powering Autism Research for Knowledge (SPARK) ASD and sibling controls (N = 5,045) cohort. RESULTS: PGS from GenomicSEM achieved superior discriminatory power in terms of showing significantly attenuated associations with non-focal outcomes relative to traditionally computed PGS for these disorders. Additionally, genetic correlations between GenomicSEM PGS for ASD and ADHD were significantly attenuated in cross-trait associations with other psychiatric disorders and outcomes. CONCLUSIONS: Psychiatric PGS associations are likely inflated by the high degree of genetic overlap between the psychiatric disorders. Methods such as GenomicSEM can be used to refine PGS signals to be more disorder-specific, thereby enhancing their discriminatory power for future diagnostic applications. En ligne : https://dx.doi.org/10.1186/s11689-025-09620-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth / Trey MCGONIGLE ; Rachael A. MUSCATELLO ; Simon VANDEKAR ; Rachel CALVOSA in Molecular Autism, 16 (2025)  

Public ISBD [article]  inMolecular Autism > 16 (2025) . - 27 Titre : The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth Type de document : texte imprimé Auteurs : Trey MCGONIGLE, Auteur ; Rachael A. MUSCATELLO, Auteur ; Simon VANDEKAR, Auteur ; Rachel CALVOSA, Auteur Article en page(s) : 27 Langues : Anglais (eng) Mots-clés : Humans  Testosterone/metabolism  Female  Male  Hydrocortisone/metabolism  Adolescent  Child  Saliva/metabolism/chemistry  Longitudinal Studies  Autism Spectrum Disorder/metabolism  Autistic Disorder/metabolism  Autism  Cortisol  HPA axis  Hpg  Hormones  Puberty  Testosterone  carried out in accordance with the Code of Ethics of the World Medical  Association (Declaration of Helsinki). The Vanderbilt Institutional Review Board  approved the study. Prior to inclusion in the study, informed written consent and  assent were obtained from all parents and study participants, respectively.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Behavioral endocrinology examines associations between hormone expression, such as testosterone and cortisol, and behavior; both of which have been implicated in autism spectrum disorder (ASD). The overarching aim of the study was to examine the intersection of sex-based (Male, Female), hormonal (testosterone, cortisol), diagnostic (ASD, typically developing, (TD)) and developmental (age, puberty) patterns over four years of a longitudinal study in a well-characterized sample of youth (spanning 10 to 17 years). METHODS: In year 1 (Y1), participants included 140 autistic youth (36 females, 104 males) and 105 TD youth (46 females, 59 males.). For Y4, participants included 83 ASD and 77 TD youth. Immediate waking morning salivary samples were collected for hormone assay. Mixed effects and ordinary linear regression models were used, as well as mediation effects of hormones on behavior. RESULTS: For cortisol, there was a significant diagnosis by sex by age interaction (X(2) = 15.62, df = 3, p = 0.0014, S = 0.2446) showing that autistic females evidence higher morning cortisol that increased over developmental progression compared to TD females. Moreover, ASD males had stunted testosterone growth compared to TD males (Est = 0.1530, p = 0.0130). Regarding biobehavioral associations in year 1, diagnosis (X(2) = 80.72, df = 1, p < 0.0001, S = 0.5704) and cortisol (X(2) = 14.42, df = 3, p = 0.0024, S = 0.2159) were associated with social problems; however, there were no effects for testosterone on diagnosis or a mediation effect on social problems. There was a significant effect of diagnosis on CBCL Aggression score (X(2) = 34.39, df = 1, p < 0.0001, S = 0.3692) independent of hormonal measurements. LIMITATIONS: Despite the large sample, it was not fully representative based on race, ethnicity or intellectual profile. Attrition of the sample is also acknowledged especially between portions of Y2 and Y3 due to the COVID-19 pandemic. Finally, only the immediate morning salivary samples were used due to lower and undetectable concentration levels of testosterone in younger and female children. CONCLUSIONS: Collectively, these findings underscore the need to elucidate the biobehavioral patterns that emerge during the complex adolescent transition for autistic youth to determine how they impact clinical and long-term outcomes. The unique hormonal trajectories may be related to differences in advanced pubertal progression and affective states found in autistic females. En ligne : https://dx.doi.org/10.1186/s13229-025-00658-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555 [article] The intersection and developmental trajectory of morning cortisol and testosterone in autistic and neurotypical youth [texte imprimé] / Trey MCGONIGLE, Auteur ; Rachael A. MUSCATELLO, Auteur ; Simon VANDEKAR, Auteur ; Rachel CALVOSA, Auteur . - 27. Langues : Anglais (eng) in Molecular Autism > 16 (2025) . - 27 Mots-clés : Humans  Testosterone/metabolism  Female  Male  Hydrocortisone/metabolism  Adolescent  Child  Saliva/metabolism/chemistry  Longitudinal Studies  Autism Spectrum Disorder/metabolism  Autistic Disorder/metabolism  Autism  Cortisol  HPA axis  Hpg  Hormones  Puberty  Testosterone  carried out in accordance with the Code of Ethics of the World Medical  Association (Declaration of Helsinki). The Vanderbilt Institutional Review Board  approved the study. Prior to inclusion in the study, informed written consent and  assent were obtained from all parents and study participants, respectively.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Behavioral endocrinology examines associations between hormone expression, such as testosterone and cortisol, and behavior; both of which have been implicated in autism spectrum disorder (ASD). The overarching aim of the study was to examine the intersection of sex-based (Male, Female), hormonal (testosterone, cortisol), diagnostic (ASD, typically developing, (TD)) and developmental (age, puberty) patterns over four years of a longitudinal study in a well-characterized sample of youth (spanning 10 to 17 years). METHODS: In year 1 (Y1), participants included 140 autistic youth (36 females, 104 males) and 105 TD youth (46 females, 59 males.). For Y4, participants included 83 ASD and 77 TD youth. Immediate waking morning salivary samples were collected for hormone assay. Mixed effects and ordinary linear regression models were used, as well as mediation effects of hormones on behavior. RESULTS: For cortisol, there was a significant diagnosis by sex by age interaction (X(2) = 15.62, df = 3, p = 0.0014, S = 0.2446) showing that autistic females evidence higher morning cortisol that increased over developmental progression compared to TD females. Moreover, ASD males had stunted testosterone growth compared to TD males (Est = 0.1530, p = 0.0130). Regarding biobehavioral associations in year 1, diagnosis (X(2) = 80.72, df = 1, p < 0.0001, S = 0.5704) and cortisol (X(2) = 14.42, df = 3, p = 0.0024, S = 0.2159) were associated with social problems; however, there were no effects for testosterone on diagnosis or a mediation effect on social problems. There was a significant effect of diagnosis on CBCL Aggression score (X(2) = 34.39, df = 1, p < 0.0001, S = 0.3692) independent of hormonal measurements. LIMITATIONS: Despite the large sample, it was not fully representative based on race, ethnicity or intellectual profile. Attrition of the sample is also acknowledged especially between portions of Y2 and Y3 due to the COVID-19 pandemic. Finally, only the immediate morning salivary samples were used due to lower and undetectable concentration levels of testosterone in younger and female children. CONCLUSIONS: Collectively, these findings underscore the need to elucidate the biobehavioral patterns that emerge during the complex adolescent transition for autistic youth to determine how they impact clinical and long-term outcomes. The unique hormonal trajectories may be related to differences in advanced pubertal progression and affective states found in autistic females. En ligne : https://dx.doi.org/10.1186/s13229-025-00658-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=555

The neurodevelopmental spectrum of CASK-related disorder / Jessica MARTIN in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : The neurodevelopmental spectrum of CASK-related disorder Type de document : texte imprimé Auteurs : Jessica MARTIN, Auteur ; Alkistis MAVROGALOU-FOTI, Auteur ; Josefine ECK, Auteur ; Laura HATTERSLEY, Auteur ; Kate BAKER, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Guanylate Kinases/genetics  Neurodevelopmental Disorders/genetics/physiopathology/epidemiology  Male  Female  Adolescent  Child, Preschool  CASK-related disorder  Adaptive function  Autism characteristics  Cerebral visual impairment  Epilepsy  Genetic  Micpch  Sleep difficulties  X-linked intellectual disability  approved by the Cambridge Central Research Ethics Committee (IRAS reference:  11/EE/0330, 'Phenotypes in Intellectual Disability'), and written informed  consent was obtained from each participant’s parent/caregiver prior to inclusion.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Although the number of diagnosed cases is rising, current understanding of the CASK-related neurodevelopmental spectrum is limited. Here, we systematically review the published characteristics of individuals with CASK-related disorder, and compare these to a more recently-diagnosed group. We provide quantitative information about the ranges of adaptive abilities, motor function, visual function and social-emotional-behavioural characteristics, and explore within-group associations. METHODS: One hundred and fifty-one individuals with CASK variants were identified in published literature. Thirty-one children and young people with CASK variants were recruited to the UK-based Brain and Behaviour in Neurodevelopmental disorders of Genetic Origin (BINGO) project. BINGO-participating caregivers completed a bespoke medical history questionnaire and battery of standardised neurodevelopmental measures. RESULTS: Comparing the recently diagnosed BINGO CASK-related disorder group to previously reported individuals, we found consistent prevalence of tone abnormalities, sensorineural hearing loss and epilepsy, but lower prevalence of severe/profound ID, MICPCH, optic atrophy and nystagmus. Areas of frequent difficulty not highlighted in previous reports include sleep difficulties and cerebral visual impairment (CVI). Neurodevelopmental characteristics were highly variable within the BINGO CASK-related disorder group, and group-wide patterns were similar to those observed in other rare genetic conditions. Within the BINGO CASK-related group, epilepsy is significantly associated with ID severity, after controlling for age. Sub-groups with MICPCH or microcephaly only have equivalent ranges of adaptive function, but MICPCH may be associated with more severe motor difficulties. CONCLUSION: The spectrum of neurodevelopmental characteristics associated with CASK-related disorder appears to be broadening with increased access to genome-wide diagnostic testing. Further studies are needed to elucidate the relationships between CASK variants, structural brain development, epilepsy, and neurodevelopmental characteristics. En ligne : https://dx.doi.org/10.1186/s11689-025-09643-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] The neurodevelopmental spectrum of CASK-related disorder [texte imprimé] / Jessica MARTIN, Auteur ; Alkistis MAVROGALOU-FOTI, Auteur ; Josefine ECK, Auteur ; Laura HATTERSLEY, Auteur ; Kate BAKER, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Child  Guanylate Kinases/genetics  Neurodevelopmental Disorders/genetics/physiopathology/epidemiology  Male  Female  Adolescent  Child, Preschool  CASK-related disorder  Adaptive function  Autism characteristics  Cerebral visual impairment  Epilepsy  Genetic  Micpch  Sleep difficulties  X-linked intellectual disability  approved by the Cambridge Central Research Ethics Committee (IRAS reference:  11/EE/0330, 'Phenotypes in Intellectual Disability'), and written informed  consent was obtained from each participant’s parent/caregiver prior to inclusion.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Although the number of diagnosed cases is rising, current understanding of the CASK-related neurodevelopmental spectrum is limited. Here, we systematically review the published characteristics of individuals with CASK-related disorder, and compare these to a more recently-diagnosed group. We provide quantitative information about the ranges of adaptive abilities, motor function, visual function and social-emotional-behavioural characteristics, and explore within-group associations. METHODS: One hundred and fifty-one individuals with CASK variants were identified in published literature. Thirty-one children and young people with CASK variants were recruited to the UK-based Brain and Behaviour in Neurodevelopmental disorders of Genetic Origin (BINGO) project. BINGO-participating caregivers completed a bespoke medical history questionnaire and battery of standardised neurodevelopmental measures. RESULTS: Comparing the recently diagnosed BINGO CASK-related disorder group to previously reported individuals, we found consistent prevalence of tone abnormalities, sensorineural hearing loss and epilepsy, but lower prevalence of severe/profound ID, MICPCH, optic atrophy and nystagmus. Areas of frequent difficulty not highlighted in previous reports include sleep difficulties and cerebral visual impairment (CVI). Neurodevelopmental characteristics were highly variable within the BINGO CASK-related disorder group, and group-wide patterns were similar to those observed in other rare genetic conditions. Within the BINGO CASK-related group, epilepsy is significantly associated with ID severity, after controlling for age. Sub-groups with MICPCH or microcephaly only have equivalent ranges of adaptive function, but MICPCH may be associated with more severe motor difficulties. CONCLUSION: The spectrum of neurodevelopmental characteristics associated with CASK-related disorder appears to be broadening with increased access to genome-wide diagnostic testing. Further studies are needed to elucidate the relationships between CASK variants, structural brain development, epilepsy, and neurodevelopmental characteristics. En ligne : https://dx.doi.org/10.1186/s11689-025-09643-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder / Serena B. GUMUSOGLU in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder Type de document : texte imprimé Auteurs : Serena B. GUMUSOGLU, Auteur ; Brandon M. SCHICKLING, Auteur ; Donna A. SANTILLAN, Auteur ; Lynn M. TEESCH, Auteur ; Mark K. SANTILLAN, Auteur Langues : Anglais (eng) Mots-clés : Humans  Autism Spectrum Disorder/metabolism/blood/diagnosis  Female  Male  Carbohydrate Metabolism/physiology  Biomarkers/blood  Fetal Blood/metabolism  Metabolomics  Child  Pregnancy  Gas Chromatography-Mass Spectrometry  Case-Control Studies  Autism  Carbohydrates  Cord blood  Monosaccharides  Polysaccharides  used in this study are derived from a tissue bank which is approved by the  University of Iowa Institutional Review Board (IRB #: 200910784). This study was  performed in line with the principles of the Declaration of Helsinki. Informed  consent was obtained from all individual participants included in the study.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite the power and promise of early detection and treatment in autism spectrum disorder (ASD), early-life biomarkers are limited. An early-life risk biosignature would advance the field's understanding of ASD pathogenies and targets for early diagnosis and intervention. We therefore sought to add to the growing ASD biomarker literature and evaluate whether fetal metabolomics are altered in idiopathic ASD. METHODS: Banked cord blood plasma samples (N = 36 control, 16 ASD) were analyzed via gas chromatography and mass spectrometry (GC-MS). Samples were from babies later diagnosed with idiopathic ASD (non-familial, non-syndromic) or matched, neurotypical controls. Metabolite set enrichment analysis (MSEA) and biomarker prediction were performed (MetaboAnalyst). RESULTS: We detected 76 metabolites in all samples. Of these, 20 metabolites differed significantly between groups: 10 increased and 10 decreased in ASD samples relative to neurotypical controls (p < 0.05). MSEA revealed significant changes in metabolic pathways related to carbohydrate metabolism and glycemic control. Untargeted principle components analysis of all metabolites did not reveal group differences, while targeted biomarker assessment (using only Fructose 6-phosphate, D-Mannose, and D-Fructose) by a Random Forest algorithm generated an area under the curve (AUC) = 0.766 (95% CI: 0.612-0.896) for ASD prediction. CONCLUSIONS: Despite a high and increasing prevalence, ASD has no definitive biomarkers or available treatments for its core symptoms. ASD's earliest developmental antecedents remain unclear. We find that fetal plasma metabolomics differ with child ASD status, in particular invoking altered carbohydrate metabolism. While prior clinical and preclinical work has linked carbohydrate metabolism to ASD, no prior fetal studies have reported these disruptions in neonates or fetuses who go on to be diagnosed with ASD. Future work will investigate concordance with maternal metabolomics to determine maternal-fetal mechanisms. En ligne : https://dx.doi.org/10.1186/s11689-025-09601-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Disrupted fetal carbohydrate metabolism in children with autism spectrum disorder [texte imprimé] / Serena B. GUMUSOGLU, Auteur ; Brandon M. SCHICKLING, Auteur ; Donna A. SANTILLAN, Auteur ; Lynn M. TEESCH, Auteur ; Mark K. SANTILLAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Autism Spectrum Disorder/metabolism/blood/diagnosis  Female  Male  Carbohydrate Metabolism/physiology  Biomarkers/blood  Fetal Blood/metabolism  Metabolomics  Child  Pregnancy  Gas Chromatography-Mass Spectrometry  Case-Control Studies  Autism  Carbohydrates  Cord blood  Monosaccharides  Polysaccharides  used in this study are derived from a tissue bank which is approved by the  University of Iowa Institutional Review Board (IRB #: 200910784). This study was  performed in line with the principles of the Declaration of Helsinki. Informed  consent was obtained from all individual participants included in the study.  Consent for publication: Not applicable. Competing interests: The authors declare  no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Despite the power and promise of early detection and treatment in autism spectrum disorder (ASD), early-life biomarkers are limited. An early-life risk biosignature would advance the field's understanding of ASD pathogenies and targets for early diagnosis and intervention. We therefore sought to add to the growing ASD biomarker literature and evaluate whether fetal metabolomics are altered in idiopathic ASD. METHODS: Banked cord blood plasma samples (N = 36 control, 16 ASD) were analyzed via gas chromatography and mass spectrometry (GC-MS). Samples were from babies later diagnosed with idiopathic ASD (non-familial, non-syndromic) or matched, neurotypical controls. Metabolite set enrichment analysis (MSEA) and biomarker prediction were performed (MetaboAnalyst). RESULTS: We detected 76 metabolites in all samples. Of these, 20 metabolites differed significantly between groups: 10 increased and 10 decreased in ASD samples relative to neurotypical controls (p < 0.05). MSEA revealed significant changes in metabolic pathways related to carbohydrate metabolism and glycemic control. Untargeted principle components analysis of all metabolites did not reveal group differences, while targeted biomarker assessment (using only Fructose 6-phosphate, D-Mannose, and D-Fructose) by a Random Forest algorithm generated an area under the curve (AUC) = 0.766 (95% CI: 0.612-0.896) for ASD prediction. CONCLUSIONS: Despite a high and increasing prevalence, ASD has no definitive biomarkers or available treatments for its core symptoms. ASD's earliest developmental antecedents remain unclear. We find that fetal plasma metabolomics differ with child ASD status, in particular invoking altered carbohydrate metabolism. While prior clinical and preclinical work has linked carbohydrate metabolism to ASD, no prior fetal studies have reported these disruptions in neonates or fetuses who go on to be diagnosed with ASD. Future work will investigate concordance with maternal metabolomics to determine maternal-fetal mechanisms. En ligne : https://dx.doi.org/10.1186/s11689-025-09601-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

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