69 recherche sur le mot-clé 'Down syndrome'

A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA(A)-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome / Celia GOELDNER in Journal of Neurodevelopmental Disorders, 14 (2022)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 14 (2022) Titre : A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA(A)-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome Type de document : texte imprimé Auteurs : Celia GOELDNER, Auteur ; Priya S. KISHNANI, Auteur ; Brian G. SKOTKO, Auteur ; Julian Lirio CASERO, Auteur ; Joerg F. HIPP, Auteur ; Michael DERKS, Auteur ; Maria-Clemencia HERNANDEZ, Auteur ; Omar KHWAJA, Auteur ; Sian LENNON-CHRIMES, Auteur ; Jana NOELDEKE, Auteur ; Sabine PELLICER, Auteur ; Lisa SQUASSANTE, Auteur ; Jeannie VISOOTSAK, Auteur ; Christoph WANDEL, Auteur ; Paulo FONTOURA, Auteur ; Xavier Liogier D'ARDHUY, Auteur ; CLEMATIS STUDY GROUP, Auteur Langues : Anglais (eng) Mots-clés : Adolescent  Child  Child, Preschool  Down Syndrome/complications/drug therapy  Humans  Intellectual Disability/complications/drug therapy  Morpholines  Oxazoles  Pyridines  Quality of Life  Treatment Outcome  Young Adult  gamma-Aminobutyric Acid/therapeutic use  Adaptive behavior  Cognition  Down syndrome  Eeg  GABAA-α5  Khwaja, X Liogier d’Ardhuy, J Noeldeke, S Pellicer, L Squassante, C Wandel were  employees of F.Hoffmann-La Roche AG Switzerland  M Derks and S Lennon-Chrimes  were employees of Roche Products Ltd. UK  J Visootsak was an employee of Roche  New York. All employees (former and current) may be eligible for stock and stock  options. P S Kishnani has no disclosures for Down syndrome-related research. J  Lirio Casero has no disclosures. B G Skotko occasionally consults on the topic of  Down syndrome through the Gerson Lehrman Group. He receives remuneration from  Down syndrome non-profit organizations for speaking engagements and associated  travel expenses. Dr. Skotko receives annual royalties from Woodbine House, Inc.,  for the publication of his book, Fasten Your Seatbelt: A Crash Course on Down  Syndrome for Brothers and Sisters. Within the past 2 years, he has also received  research funding from AC Immune and LuMind Research Down Syndrome Foundation to  conduct clinical trials for people with Down syndrome. Dr. Skotko is occasionally  asked to serve as an expert witness for legal cases where Down syndrome is  discussed. Dr. Skotko serves in a non-paid capacity on the Honorary Board of  Directors for the Massachusetts Down Syndrome Congress and the Professional  Advisory Committee for the National Center for Prenatal and Postnatal Down  Syndrome Resources. Dr. Skotko has a sister with Down syndrome. Index. décimale : PER Périodiques Résumé : BACKGROUND: There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cognitive functioning in Down syndrome. Negative modulation of the GABA(A)-α5 receptor is proposed as a mechanism to attenuate GABAergic function and restore the excitatory/inhibitory balance. METHODS: Basmisanil, a selective GABA(A)-α5 negative allosteric modulator, was evaluated at 120 mg or 240 mg BID (80 or 160 mg for 12-13 years) in a 6-month, randomized, double-blind, placebo-controlled phase II trial (Clematis) for efficacy and safety in adolescents and young adults with Down syndrome. The primary endpoint was based on a composite analysis of working memory (Repeatable Battery for the Assessment of Neuropsychological Scale [RBANS]) and independent functioning and adaptive behavior (Vineland Adaptive Behavior Scales [VABS-II] or the Clinical Global Impression-Improvement [CGI-I]). Secondary measures included the Behavior Rating Inventory of Executive Functioning-Preschool (BRIEF-P), Clinical Evaluation of Language Fundamentals (CELF-4), and Pediatric Quality of Life Inventory (Peds-QL). EEG was conducted for safety monitoring and quantitatively analyzed in adolescents. RESULTS: Basmisanil was safe and well-tolerated; the frequency and nature of adverse events were similar in basmisanil and placebo arms. EEG revealed treatment-related changes in spectral power (increase in low ~ 4-Hz and decrease in high ~ 20-Hz frequencies) providing evidence of functional target engagement. All treatment arms had a similar proportion of participants showing above-threshold improvement on the primary composite endpoint, evaluating concomitant responses in cognition and independent functioning (29% in placebo, 20% in low dose, and 25% in high dose). Further analysis of the individual measures contributing to the primary endpoint revealed no difference between placebo and basmisanil-treated groups in either adolescents or adults. There were also no differences across the secondary endpoints assessing changes in executive function, language, or quality of life. CONCLUSIONS: Basmisanil did not meet the primary efficacy objective of concomitant improvement on cognition and adaptive functioning after 6 months of treatment, despite evidence for target engagement. This study provides key learnings for future clinical trials in Down syndrome. TRIAL REGISTRATION: The study was registered on December 31, 2013, at clinicaltrials.gov as NCT02024789. En ligne : https://dx.doi.org/10.1186/s11689-022-09418-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA(A)-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome [texte imprimé] / Celia GOELDNER, Auteur ; Priya S. KISHNANI, Auteur ; Brian G. SKOTKO, Auteur ; Julian Lirio CASERO, Auteur ; Joerg F. HIPP, Auteur ; Michael DERKS, Auteur ; Maria-Clemencia HERNANDEZ, Auteur ; Omar KHWAJA, Auteur ; Sian LENNON-CHRIMES, Auteur ; Jana NOELDEKE, Auteur ; Sabine PELLICER, Auteur ; Lisa SQUASSANTE, Auteur ; Jeannie VISOOTSAK, Auteur ; Christoph WANDEL, Auteur ; Paulo FONTOURA, Auteur ; Xavier Liogier D'ARDHUY, Auteur ; CLEMATIS STUDY GROUP, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 14 (2022) Mots-clés : Adolescent  Child  Child, Preschool  Down Syndrome/complications/drug therapy  Humans  Intellectual Disability/complications/drug therapy  Morpholines  Oxazoles  Pyridines  Quality of Life  Treatment Outcome  Young Adult  gamma-Aminobutyric Acid/therapeutic use  Adaptive behavior  Cognition  Down syndrome  Eeg  GABAA-α5  Khwaja, X Liogier d’Ardhuy, J Noeldeke, S Pellicer, L Squassante, C Wandel were  employees of F.Hoffmann-La Roche AG Switzerland  M Derks and S Lennon-Chrimes  were employees of Roche Products Ltd. UK  J Visootsak was an employee of Roche  New York. All employees (former and current) may be eligible for stock and stock  options. P S Kishnani has no disclosures for Down syndrome-related research. J  Lirio Casero has no disclosures. B G Skotko occasionally consults on the topic of  Down syndrome through the Gerson Lehrman Group. He receives remuneration from  Down syndrome non-profit organizations for speaking engagements and associated  travel expenses. Dr. Skotko receives annual royalties from Woodbine House, Inc.,  for the publication of his book, Fasten Your Seatbelt: A Crash Course on Down  Syndrome for Brothers and Sisters. Within the past 2 years, he has also received  research funding from AC Immune and LuMind Research Down Syndrome Foundation to  conduct clinical trials for people with Down syndrome. Dr. Skotko is occasionally  asked to serve as an expert witness for legal cases where Down syndrome is  discussed. Dr. Skotko serves in a non-paid capacity on the Honorary Board of  Directors for the Massachusetts Down Syndrome Congress and the Professional  Advisory Committee for the National Center for Prenatal and Postnatal Down  Syndrome Resources. Dr. Skotko has a sister with Down syndrome. Index. décimale : PER Périodiques Résumé : BACKGROUND: There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cognitive functioning in Down syndrome. Negative modulation of the GABA(A)-α5 receptor is proposed as a mechanism to attenuate GABAergic function and restore the excitatory/inhibitory balance. METHODS: Basmisanil, a selective GABA(A)-α5 negative allosteric modulator, was evaluated at 120 mg or 240 mg BID (80 or 160 mg for 12-13 years) in a 6-month, randomized, double-blind, placebo-controlled phase II trial (Clematis) for efficacy and safety in adolescents and young adults with Down syndrome. The primary endpoint was based on a composite analysis of working memory (Repeatable Battery for the Assessment of Neuropsychological Scale [RBANS]) and independent functioning and adaptive behavior (Vineland Adaptive Behavior Scales [VABS-II] or the Clinical Global Impression-Improvement [CGI-I]). Secondary measures included the Behavior Rating Inventory of Executive Functioning-Preschool (BRIEF-P), Clinical Evaluation of Language Fundamentals (CELF-4), and Pediatric Quality of Life Inventory (Peds-QL). EEG was conducted for safety monitoring and quantitatively analyzed in adolescents. RESULTS: Basmisanil was safe and well-tolerated; the frequency and nature of adverse events were similar in basmisanil and placebo arms. EEG revealed treatment-related changes in spectral power (increase in low ~ 4-Hz and decrease in high ~ 20-Hz frequencies) providing evidence of functional target engagement. All treatment arms had a similar proportion of participants showing above-threshold improvement on the primary composite endpoint, evaluating concomitant responses in cognition and independent functioning (29% in placebo, 20% in low dose, and 25% in high dose). Further analysis of the individual measures contributing to the primary endpoint revealed no difference between placebo and basmisanil-treated groups in either adolescents or adults. There were also no differences across the secondary endpoints assessing changes in executive function, language, or quality of life. CONCLUSIONS: Basmisanil did not meet the primary efficacy objective of concomitant improvement on cognition and adaptive functioning after 6 months of treatment, despite evidence for target engagement. This study provides key learnings for future clinical trials in Down syndrome. TRIAL REGISTRATION: The study was registered on December 31, 2013, at clinicaltrials.gov as NCT02024789. En ligne : https://dx.doi.org/10.1186/s11689-022-09418-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Adaptation of the Clinical Dementia Rating Scale for adults with Down syndrome / Christina N. LESSOV-SCHLAGGAR in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 39 Titre : Adaptation of the Clinical Dementia Rating Scale for adults with Down syndrome Type de document : texte imprimé Auteurs : Christina N. LESSOV-SCHLAGGAR, Auteur ; Olga L. DEL ROSARIO, Auteur ; John C. MORRIS, Auteur ; Beau M. ANCES, Auteur ; Bradley L. SCHLAGGAR, Auteur ; John N. CONSTANTINO, Auteur Article en page(s) : 39 Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Down Syndrome/diagnosis/psychology  Female  Humans  Male  Mental Status and Dementia Tests/standards  Middle Aged  Young Adult  Cognitive decline  Cognitive impairment  Dementia  Down syndrome  Premorbid ability Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults with Down syndrome (DS) are at increased risk for Alzheimer disease dementia, and there is a pressing need for the development of assessment instruments that differentiate chronic cognitive impairment, acute neuropsychiatric symptomatology, and dementia in this population of patients. METHODS: We adapted a widely used instrument, the Clinical Dementia Rating (CDR) Scale, which is a component of the Uniform Data Set used by all federally funded Alzheimer Disease Centers for use in adults with DS, and tested the instrument among 34 DS patients recruited from the community. The participants were assessed using two versions of the modified CDR-a caregiver questionnaire and an in-person interview involving both the caregiver and the DS adult. Assessment also included the Dementia Scale for Down Syndrome (DSDS) and the Raven's Progressive Matrices to estimate IQ. RESULTS: Both modified questionnaire and interview instruments captured a range of cognitive impairments, a majority of which were found to be chronic when accounting for premorbid function. Two individuals in the sample were strongly suspected to have early dementia, both of whom had elevated scores on the modified CDR instruments. Among individuals rated as having no dementia based on the DSDS, about half showed subthreshold impairments on the modified CDR instruments; there was substantial agreement between caregiver questionnaire screening and in-person interview of caregivers and DS adults. CONCLUSIONS: The modified questionnaire and interview instruments capture a range of impairment in DS adults, including subthreshold symptomatology, and the instruments provide complementary information relevant to the ascertainment of dementia in DS. Decline was seen across all cognitive domains and was generally positively related to age and negatively related to IQ. Most importantly, adjusting instrument scores for chronic, premorbid impairment drastically shifted the distribution toward lower (no impairment) scores. En ligne : https://dx.doi.org/10.1186/s11689-019-9300-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Adaptation of the Clinical Dementia Rating Scale for adults with Down syndrome [texte imprimé] / Christina N. LESSOV-SCHLAGGAR, Auteur ; Olga L. DEL ROSARIO, Auteur ; John C. MORRIS, Auteur ; Beau M. ANCES, Auteur ; Bradley L. SCHLAGGAR, Auteur ; John N. CONSTANTINO, Auteur . - 39. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 39 Mots-clés : Adolescent  Adult  Down Syndrome/diagnosis/psychology  Female  Humans  Male  Mental Status and Dementia Tests/standards  Middle Aged  Young Adult  Cognitive decline  Cognitive impairment  Dementia  Down syndrome  Premorbid ability Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults with Down syndrome (DS) are at increased risk for Alzheimer disease dementia, and there is a pressing need for the development of assessment instruments that differentiate chronic cognitive impairment, acute neuropsychiatric symptomatology, and dementia in this population of patients. METHODS: We adapted a widely used instrument, the Clinical Dementia Rating (CDR) Scale, which is a component of the Uniform Data Set used by all federally funded Alzheimer Disease Centers for use in adults with DS, and tested the instrument among 34 DS patients recruited from the community. The participants were assessed using two versions of the modified CDR-a caregiver questionnaire and an in-person interview involving both the caregiver and the DS adult. Assessment also included the Dementia Scale for Down Syndrome (DSDS) and the Raven's Progressive Matrices to estimate IQ. RESULTS: Both modified questionnaire and interview instruments captured a range of cognitive impairments, a majority of which were found to be chronic when accounting for premorbid function. Two individuals in the sample were strongly suspected to have early dementia, both of whom had elevated scores on the modified CDR instruments. Among individuals rated as having no dementia based on the DSDS, about half showed subthreshold impairments on the modified CDR instruments; there was substantial agreement between caregiver questionnaire screening and in-person interview of caregivers and DS adults. CONCLUSIONS: The modified questionnaire and interview instruments capture a range of impairment in DS adults, including subthreshold symptomatology, and the instruments provide complementary information relevant to the ascertainment of dementia in DS. Decline was seen across all cognitive domains and was generally positively related to age and negatively related to IQ. Most importantly, adjusting instrument scores for chronic, premorbid impairment drastically shifted the distribution toward lower (no impairment) scores. En ligne : https://dx.doi.org/10.1186/s11689-019-9300-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Behavioral and psychological symptoms of dementia and Alzheimer's disease progression in Down syndrome / Melissa R. JENKINS in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Behavioral and psychological symptoms of dementia and Alzheimer's disease progression in Down syndrome Type de document : texte imprimé Auteurs : Melissa R. JENKINS, Auteur ; Jamie C. PEVEN, Auteur ; Lauren KUBIC, Auteur ; Benjamin L. HANDEN, Auteur ; Sharon J. KRINSKY-MCHALE, Auteur ; Christy L. HOM, Auteur ; Alice LEE, Auteur ; Dana L. TUDORASCU, Auteur ; Max MCLACHLAN, Auteur ; Matthew ZAMMIT, Auteur ; Davneet MINHAS, Auteur ; Weiquan LUO, Auteur ; Charles LAYMON, Auteur ; Joseph H. LEE, Auteur ; Ira LOTT, Auteur ; Annie COHEN, Auteur ; Beau M. ANCES, Auteur ; H. Diana ROSAS, Auteur ; Florence LAI, Auteur ; Shahid H. ZAMAN, Auteur ; Elizabeth HEAD, Auteur ; Mark MAPSTONE, Auteur ; Bradley T. CHRISTIAN, Auteur ; Sigan L. HARTLEY, Auteur ; ALZHEIMER BIOMARKER CONSORTIUM - DOWN SYNDROME, Auteur Langues : Anglais (eng) Mots-clés : Humans  Down Syndrome/complications/psychology/diagnostic imaging  Male  Female  Alzheimer Disease/psychology/diagnostic  imaging/complications/metabolism/physiopathology  Disease Progression  Middle Aged  Dementia/psychology/diagnostic imaging/complications/physiopathology  Adult  Positron-Emission Tomography  Cognitive Dysfunction/diagnostic imaging/psychology  Amyloid beta-Peptides/metabolism  Cohort Studies  Aged  Alzheimer’s disease  Amyloid  Down syndrome  Psychiatric symptoms  Tau  was approved by the Internal Review Boards of the University of Pittsburgh,  University of Wisconsin Madison, and University of California, Irvine. Consent  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults with Down syndrome (DS) have a 90% lifetime risk for Alzheimer's disease (AD), with neurobiological pathology present decades prior to dementia onset. The profile and timing of cognitive decline in DS is well-documented. However, there is a small body of research on whether Behavioral and Psychological Symptoms of Dementia (BPSD) occur early on in the progression of AD in DS and are associated with early AD pathology (i.e., amyloid-beta [Aβ] and neurofibrillary tau tangles [NFT]). METHODS: Data were analyzed from 337 adults with DS (M = 45.13 years, SD = 9.53 years) enrolled in a large cohort study. The Reiss Screen for Maladaptive Behavior (RSMB) measured common behaviors reported in BPSD across up to four study cycles (spaced approximately 16 months apart). Linear mixed models estimated change in BPSD as predicted by baseline (a) dementia status (i.e., cognitively stable, mild cognitive impairment [MCI], or dementia), (b) Aβ positron emission tomography (PET) tracer [(11)C] PiB, and (c) NFT PET tracer [(18)F]AV-1451. Models controlled for chronological age, sex, study site, premorbid intellectual disability level, APOE e4 allele carrier status, psychiatric diagnoses, and psychiatric medication use. RESULTS: Compared to cognitively stable participants, participants whose status was MCI or dementia, had significantly higher baseline RSMB subdomain scores. Increases in RSMB Depression-Behavioral, Depression-Physical, and Psychosis were observed for participants with MCI. Higher baseline Aβ and NFT were associated with higher RSMB Avoidant at baseline, and increases in RSMB Depression-Physical and Psychosis over time. CONCLUSIONS: BPSD are an important part of AD in DS, particularly during the prodromal stage. Elevated Aβ and NFT predict higher initial avoidance and change in physical depression behaviors and may indicate MCI in adults with DS. Broader increases in BPSD are observed as adults with DS progress from early to late-stage dementia. Clinicians should rule out other possible causes of BPSD when screening for AD, such as stressful life experiences or co-occurring medical conditions. Caregivers of adults with DS should have resources on BPSD management and self-care strategies. En ligne : https://dx.doi.org/10.1186/s11689-025-09604-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Behavioral and psychological symptoms of dementia and Alzheimer's disease progression in Down syndrome [texte imprimé] / Melissa R. JENKINS, Auteur ; Jamie C. PEVEN, Auteur ; Lauren KUBIC, Auteur ; Benjamin L. HANDEN, Auteur ; Sharon J. KRINSKY-MCHALE, Auteur ; Christy L. HOM, Auteur ; Alice LEE, Auteur ; Dana L. TUDORASCU, Auteur ; Max MCLACHLAN, Auteur ; Matthew ZAMMIT, Auteur ; Davneet MINHAS, Auteur ; Weiquan LUO, Auteur ; Charles LAYMON, Auteur ; Joseph H. LEE, Auteur ; Ira LOTT, Auteur ; Annie COHEN, Auteur ; Beau M. ANCES, Auteur ; H. Diana ROSAS, Auteur ; Florence LAI, Auteur ; Shahid H. ZAMAN, Auteur ; Elizabeth HEAD, Auteur ; Mark MAPSTONE, Auteur ; Bradley T. CHRISTIAN, Auteur ; Sigan L. HARTLEY, Auteur ; ALZHEIMER BIOMARKER CONSORTIUM - DOWN SYNDROME, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Down Syndrome/complications/psychology/diagnostic imaging  Male  Female  Alzheimer Disease/psychology/diagnostic  imaging/complications/metabolism/physiopathology  Disease Progression  Middle Aged  Dementia/psychology/diagnostic imaging/complications/physiopathology  Adult  Positron-Emission Tomography  Cognitive Dysfunction/diagnostic imaging/psychology  Amyloid beta-Peptides/metabolism  Cohort Studies  Aged  Alzheimer’s disease  Amyloid  Down syndrome  Psychiatric symptoms  Tau  was approved by the Internal Review Boards of the University of Pittsburgh,  University of Wisconsin Madison, and University of California, Irvine. Consent  for publication: Not applicable. Competing interests: The authors declare no  competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Adults with Down syndrome (DS) have a 90% lifetime risk for Alzheimer's disease (AD), with neurobiological pathology present decades prior to dementia onset. The profile and timing of cognitive decline in DS is well-documented. However, there is a small body of research on whether Behavioral and Psychological Symptoms of Dementia (BPSD) occur early on in the progression of AD in DS and are associated with early AD pathology (i.e., amyloid-beta [Aβ] and neurofibrillary tau tangles [NFT]). METHODS: Data were analyzed from 337 adults with DS (M = 45.13 years, SD = 9.53 years) enrolled in a large cohort study. The Reiss Screen for Maladaptive Behavior (RSMB) measured common behaviors reported in BPSD across up to four study cycles (spaced approximately 16 months apart). Linear mixed models estimated change in BPSD as predicted by baseline (a) dementia status (i.e., cognitively stable, mild cognitive impairment [MCI], or dementia), (b) Aβ positron emission tomography (PET) tracer [(11)C] PiB, and (c) NFT PET tracer [(18)F]AV-1451. Models controlled for chronological age, sex, study site, premorbid intellectual disability level, APOE e4 allele carrier status, psychiatric diagnoses, and psychiatric medication use. RESULTS: Compared to cognitively stable participants, participants whose status was MCI or dementia, had significantly higher baseline RSMB subdomain scores. Increases in RSMB Depression-Behavioral, Depression-Physical, and Psychosis were observed for participants with MCI. Higher baseline Aβ and NFT were associated with higher RSMB Avoidant at baseline, and increases in RSMB Depression-Physical and Psychosis over time. CONCLUSIONS: BPSD are an important part of AD in DS, particularly during the prodromal stage. Elevated Aβ and NFT predict higher initial avoidance and change in physical depression behaviors and may indicate MCI in adults with DS. Broader increases in BPSD are observed as adults with DS progress from early to late-stage dementia. Clinicians should rule out other possible causes of BPSD when screening for AD, such as stressful life experiences or co-occurring medical conditions. Caregivers of adults with DS should have resources on BPSD management and self-care strategies. En ligne : https://dx.doi.org/10.1186/s11689-025-09604-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome / Rebecca GRZADZINSKI in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome Type de document : texte imprimé Auteurs : Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur Langues : Anglais (eng) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome [texte imprimé] / Rebecca GRZADZINSKI, Auteur ; Kattia MATA, Auteur ; Ambika S. BHATT, Auteur ; Alapika JATKAR, Auteur ; Dea GARIC, Auteur ; Mark D. SHEN, Auteur ; Jessica B. GIRAULT, Auteur ; Tanya ST JOHN, Auteur ; Juhi PANDEY, Auteur ; Lonnie ZWAIGENBAUM, Auteur ; Annette ESTES, Auteur ; Audrey M. SHEN, Auteur ; Stephen DAGER, Auteur ; Robert SCHULTZ, Auteur ; Kelly BOTTERON, Auteur ; Natasha MARRUS, Auteur ; Martin STYNER, Auteur ; Alan EVANS, Auteur ; Sun Hyung KIM, Auteur ; Robert MCKINSTRY, Auteur ; Guido GERIG, Auteur ; Joseph PIVEN, Auteur ; Heather HAZLETT, Auteur ; IBIS NETWORK, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Down Syndrome/diagnostic imaging/physiopathology/pathology  Male  Female  Child  Magnetic Resonance Imaging  Adaptation, Psychological/physiology  Cognition/physiology  Brain/diagnostic imaging/pathology/physiopathology  Autism Spectrum Disorder/diagnostic imaging/physiopathology/pathology  Organ Size  Cerebellum/diagnostic imaging/pathology/physiopathology  Adaptive  Autism spectrum disorder  Brain volumes  Cognitive  Cortical volumes  Down syndrome  Intellectual disability  Mri  Neurobehavioral/behavioral profiles  Neurodevelopmental disorder  Neuroimaging  School-age children  in this work was approved by the local Institutional Review Board. Consent for  publication: All authors have reviewed the manuscript and approved it for  publication. Competing interests: The authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. METHODS: School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. RESULTS: As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. CONCLUSIONS: Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research. En ligne : https://dx.doi.org/10.1186/s11689-024-09581-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis / Marie Moore CHANNELL in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis Type de document : texte imprimé Auteurs : Marie Moore CHANNELL, Auteur ; Laura J. MATTIE, Auteur ; Debra R. HAMILTON, Auteur ; George T. CAPONE, Auteur ; E. Mark MAHONE, Auteur ; Stephanie L. SHERMAN, Auteur ; Tracie C. ROSSER, Auteur ; Roger H. REEVES, Auteur ; Luther G. KALB, Auteur Langues : Anglais (eng) Mots-clés : Adaptation, Psychological  Adolescent  Adult  Autism Spectrum Disorder  Child  Cognition  Down Syndrome  Executive Function  Female  Humans  Male  Young Adult  Adaptive behavior  Autism symptomatology  Down syndrome  Intellectual disability  Latent profile analysis  Maladaptive behavior  Phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The "normative" class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The "cognitive" class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The "behavioral" class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the "normative" class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. En ligne : https://dx.doi.org/10.1186/s11689-021-09365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis [texte imprimé] / Marie Moore CHANNELL, Auteur ; Laura J. MATTIE, Auteur ; Debra R. HAMILTON, Auteur ; George T. CAPONE, Auteur ; E. Mark MAHONE, Auteur ; Stephanie L. SHERMAN, Auteur ; Tracie C. ROSSER, Auteur ; Roger H. REEVES, Auteur ; Luther G. KALB, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adaptation, Psychological  Adolescent  Adult  Autism Spectrum Disorder  Child  Cognition  Down Syndrome  Executive Function  Female  Humans  Male  Young Adult  Adaptive behavior  Autism symptomatology  Down syndrome  Intellectual disability  Latent profile analysis  Maladaptive behavior  Phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The "normative" class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The "cognitive" class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The "behavioral" class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the "normative" class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. En ligne : https://dx.doi.org/10.1186/s11689-021-09365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Charting the future: current and future directions in translational research for individuals with Down syndrome / Katherine A. WAUGH in Journal of Neurodevelopmental Disorders, 17 (2025)  

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

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Co-occurring Down Syndrome and Autism Spectrum Disorder: Cognitive, Adaptive, and Behavioral Characteristics / Kathryn BRADBURY in Journal of Autism and Developmental Disorders, 52-3 (March 2022)  

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Comparison of resting-state EEG between adults with Down syndrome and typically developing controls / Sarah HAMBURG in Journal of Neurodevelopmental Disorders, 13 (2021)  

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Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group / Nicole T. BAUMER in Journal of Neurodevelopmental Disorders, 14 (2022)  

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