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Auteur Brian K. LEE |
Documents disponibles écrits par cet auteur (19)
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The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability / Sherlly XIE in Autism Research, 13-12 (December 2020)
[article]
Titre : The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability Type de document : Texte imprimé et/ou numérique Auteurs : Sherlly XIE, Auteur ; Håkan KARLSSON, Auteur ; Christina DALMAN, Auteur ; Linnea WIDMAN, Auteur ; Dheeraj RAI, Auteur ; Renee M. GARDNER, Auteur ; Cecilia MAGNUSSON, Auteur ; Sven SANDIN, Auteur ; Loni P. TABB, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Brian K. LEE, Auteur Article en page(s) : p.2242-2250 Langues : Anglais (eng) Mots-clés : autism spectrum disorders familial risk family study heritability intellectual disability Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child's odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD?-?ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. En ligne : http://dx.doi.org/10.1002/aur.2417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=434
in Autism Research > 13-12 (December 2020) . - p.2242-2250[article] The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability [Texte imprimé et/ou numérique] / Sherlly XIE, Auteur ; Håkan KARLSSON, Auteur ; Christina DALMAN, Auteur ; Linnea WIDMAN, Auteur ; Dheeraj RAI, Auteur ; Renee M. GARDNER, Auteur ; Cecilia MAGNUSSON, Auteur ; Sven SANDIN, Auteur ; Loni P. TABB, Auteur ; Craig J. NEWSCHAFFER, Auteur ; Brian K. LEE, Auteur . - p.2242-2250.
Langues : Anglais (eng)
in Autism Research > 13-12 (December 2020) . - p.2242-2250
Mots-clés : autism spectrum disorders familial risk family study heritability intellectual disability Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well understood. In this population-based cohort study, we examined the familial risk and heritability of ASD with and without co-occurring intellectual disability (ID). We estimated odds ratios and heritability of ASD with ID (ASD+ID) and ASD without ID (ASD-ID) using register-based diagnosis data of 567,436 index persons born in 1984-2009 in Stockholm County, Sweden, and their parents, siblings, cousins, aunts, and uncles. The familial risk profile exhibited differences between ASD-ID and ASD+ID, most notably for index persons with affected parents. For example, for an index person who had at least one parent with ASD, the child's odds of ASD-ID and ASD+ID (95% confidence interval (CI)) increased by 16.2 (14.2-18.6) and 7.4 (5.5-10.0) folds, respectively. The more closely related a family member with ASD was, the greater the observed risk was of ASD in the index person, especially for ASD-ID. The broad-sense heritability (95% CI) for ASD?-?ID and ASD+ID were 64.6% (46.0-100.0%) and 33.4% (14.4-58.4%), respectively. Familial risk and heritability of ASD may vary by intellectual ability, which implies that risk factors between these ASD phenotypes may differ. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. LAY SUMMARY: Autism spectrum disorder (ASD) is highly heritable, yet how its familial risk and heritability may vary by cognitive ability is not well-understood. In a population-based cohort study on families of 567,436 index persons using Swedish registers data, we found that the familial risk profile differed between ASD with and without intellectual disability. Our findings from the heritability analysis and familial risk analysis suggest that ASD-ID may have a greater genetic basis than ASD+ID, although this should be verified in future studies. En ligne : http://dx.doi.org/10.1002/aur.2417 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=434 The Medical Home and Use of Mental and Non-mental Specialty Services Among Children with Autism Spectrum Disorder (ASD) / Tobechukwu H. EZEH in Journal of Autism and Developmental Disorders, 53-3 (March 2023)
[article]
Titre : The Medical Home and Use of Mental and Non-mental Specialty Services Among Children with Autism Spectrum Disorder (ASD) Type de document : Texte imprimé et/ou numérique Auteurs : Tobechukwu H. EZEH, Auteur ; Brian K. LEE, Auteur ; Jessica E. RAST, Auteur Article en page(s) : p.1202-1212 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This study assessed the relationship between the medical home and use of health services among children with autism spectrum disorder (ASD). Data from 2016 to 2018 National Survey of Children?s Health was analyzed. Outcome measures were receipt of mental and non-mental specialty care, difficulty receiving needed mental and non-mental specialty care and unmet need for mental care. Having a medical home was associated with significantly lower odds of having unmet mental health need for children with ASD ages 11-17 (OR 0.14, 95% CI 0.07-0.30) but not for those ages 3-10 (OR 0.54, 95% CI 0.21-1.43). Having a medical home was also associated with lower odds of difficulty getting needed mental health care (OR 0.38, 95% CI 0.22-0.66) as well as non-mental specialty care (OR 0.24, 95% CI 0.13-0.44). En ligne : https://doi.org/10.1007/s10803-022-05596-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500
in Journal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1202-1212[article] The Medical Home and Use of Mental and Non-mental Specialty Services Among Children with Autism Spectrum Disorder (ASD) [Texte imprimé et/ou numérique] / Tobechukwu H. EZEH, Auteur ; Brian K. LEE, Auteur ; Jessica E. RAST, Auteur . - p.1202-1212.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1202-1212
Index. décimale : PER Périodiques Résumé : This study assessed the relationship between the medical home and use of health services among children with autism spectrum disorder (ASD). Data from 2016 to 2018 National Survey of Children?s Health was analyzed. Outcome measures were receipt of mental and non-mental specialty care, difficulty receiving needed mental and non-mental specialty care and unmet need for mental care. Having a medical home was associated with significantly lower odds of having unmet mental health need for children with ASD ages 11-17 (OR 0.14, 95% CI 0.07-0.30) but not for those ages 3-10 (OR 0.54, 95% CI 0.21-1.43). Having a medical home was also associated with lower odds of difficulty getting needed mental health care (OR 0.38, 95% CI 0.22-0.66) as well as non-mental specialty care (OR 0.24, 95% CI 0.13-0.44). En ligne : https://doi.org/10.1007/s10803-022-05596-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500 The Periodic Risk Evaluation: A new tool to link Medicaid-enrolled autistic adults to services and support / Lindsay SHEA in Research in Autism Spectrum Disorders, 98 (October 2022)
[article]
Titre : The Periodic Risk Evaluation: A new tool to link Medicaid-enrolled autistic adults to services and support Type de document : Texte imprimé et/ou numérique Auteurs : Lindsay SHEA, Auteur ; Kaitlin H. KOFFER MILLER, Auteur ; Stacy L. NONNEMACHER, Auteur ; Alec BECKER, Auteur ; Pamela TREADWAY, Auteur ; Amy ALFORD, Auteur ; Craig NEWSCHAFFER, Auteur ; Brian K. LEE, Auteur Article en page(s) : 102037 Langues : Anglais (eng) Mots-clés : Autism Medicaid Risk Tool Adult Service use Index. décimale : PER Périodiques Résumé : Background The Periodic Risk Evaluation (PRE) is a new questionnaire-based tool to identify autistic adults enrolled in Medicaid programs who are at risk for adverse outcomes including mental health and medical conditions, law enforcement interaction, stressful life events, substance use, presence of natural supports, and suboptimal living conditions. The PRE is completed by direct service providers and informs case conceptualization to drive changes in needed supports. Method The PRE was tested in a sample of 674 autistic adults with a mean age of 31 years across a large, northeastern state. A random forest model was developed to predict complex case status using the PRE items. Sensitivity, specificity, positive predictive value, and negative predictive value for different PRE score cutoffs were evaluated as the performance measures of interest. Expert clinical assessment, the gold standard for case status, identified 131 individuals (19.4 %) as complex cases in need of modified services and supports. Results The final PRE model identified complex cases in unseen data with 75.5 % accuracy, 71.9 % sensitivity, 76.3 % specificity, 41.8 % positive predictive value, and 92.0 % negative predictive value. Conclusions The PRE may be a useful tool for triaging service needs and delivery to adults on the spectrum. The use of the PRE in the Medicaid system is critical because Medicaid is among the only insurers available during the transition to and throughout adulthood for autistic individuals. Adequate planning and assessment of risk can assist direct support staff in triaging and mitigating risk to minimize adverse outcomes. En ligne : https://doi.org/10.1016/j.rasd.2022.102037 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490
in Research in Autism Spectrum Disorders > 98 (October 2022) . - 102037[article] The Periodic Risk Evaluation: A new tool to link Medicaid-enrolled autistic adults to services and support [Texte imprimé et/ou numérique] / Lindsay SHEA, Auteur ; Kaitlin H. KOFFER MILLER, Auteur ; Stacy L. NONNEMACHER, Auteur ; Alec BECKER, Auteur ; Pamela TREADWAY, Auteur ; Amy ALFORD, Auteur ; Craig NEWSCHAFFER, Auteur ; Brian K. LEE, Auteur . - 102037.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 98 (October 2022) . - 102037
Mots-clés : Autism Medicaid Risk Tool Adult Service use Index. décimale : PER Périodiques Résumé : Background The Periodic Risk Evaluation (PRE) is a new questionnaire-based tool to identify autistic adults enrolled in Medicaid programs who are at risk for adverse outcomes including mental health and medical conditions, law enforcement interaction, stressful life events, substance use, presence of natural supports, and suboptimal living conditions. The PRE is completed by direct service providers and informs case conceptualization to drive changes in needed supports. Method The PRE was tested in a sample of 674 autistic adults with a mean age of 31 years across a large, northeastern state. A random forest model was developed to predict complex case status using the PRE items. Sensitivity, specificity, positive predictive value, and negative predictive value for different PRE score cutoffs were evaluated as the performance measures of interest. Expert clinical assessment, the gold standard for case status, identified 131 individuals (19.4 %) as complex cases in need of modified services and supports. Results The final PRE model identified complex cases in unseen data with 75.5 % accuracy, 71.9 % sensitivity, 76.3 % specificity, 41.8 % positive predictive value, and 92.0 % negative predictive value. Conclusions The PRE may be a useful tool for triaging service needs and delivery to adults on the spectrum. The use of the PRE in the Medicaid system is critical because Medicaid is among the only insurers available during the transition to and throughout adulthood for autistic individuals. Adequate planning and assessment of risk can assist direct support staff in triaging and mitigating risk to minimize adverse outcomes. En ligne : https://doi.org/10.1016/j.rasd.2022.102037 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=490 Umbilical cord blood androgen levels and ASD-related phenotypes at 12 and 36 months in an enriched risk cohort study / B. Y. PARK in Molecular Autism, 8 (2017)
[article]
Titre : Umbilical cord blood androgen levels and ASD-related phenotypes at 12 and 36 months in an enriched risk cohort study Type de document : Texte imprimé et/ou numérique Auteurs : B. Y. PARK, Auteur ; Brian K. LEE, Auteur ; Igor BURSTYN, Auteur ; Loni P. TABB, Auteur ; J. A. KEELAN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Lisa A. CROEN, Auteur ; M. D. FALLIN, Auteur ; I. HERTZ-PICCIOTTO, Auteur ; O. MONTGOMERY, Auteur ; C. J. NEWSCHAFFER, Auteur Article en page(s) : 3p. Langues : Anglais (eng) Mots-clés : Adult Androstenedione/*metabolism Autism Spectrum Disorder/metabolism/*psychology Chromatography, Liquid Cohort Studies Dehydroepiandrosterone/*metabolism Female Fetal Blood/*metabolism Humans Infant Linear Models Longitudinal Studies Male Pregnancy Prospective Studies Risk Assessment Severity of Illness Index Siblings/*psychology Tandem Mass Spectrometry Testosterone/*metabolism *Autism *Sex difference *Sibling *Testosterone *Umbilical cord blood Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1 in ASD is a well-recognized but poorly understood phenomenon. An explicit focus on potential etiologic pathways consistent with this sex difference, such as those involving prenatal androgen exposure, may help elucidate causes of ASD. Furthermore, the multi-threshold liability model suggests that the genetic mechanisms in females with ASD may be distinct and may modulate ASD risk in families with female ASD in the pedigree. METHODS: We examined umbilical cord blood from 137 children in the Early Autism Risk Longitudinal Investigation (EARLI) cohort. EARLI is an ASD-enriched risk cohort with all children having an older sibling already diagnosed with ASD. Fetal testosterone (T), androstenedione (A4), and dehyroepiandrosterone (DHEA) levels were measured in cord blood using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Robust linear regression models were used to determine associations between cord blood androgen levels and 12-month Autism Observation Scales for Infants (AOSI) scores and 36-month Social Responsiveness Scale (SRS) scores adjusting for potential confounders. RESULTS: Increasing androgens were not associated with increasing 12-month AOSI score or 36-month total SRS score in either boys or girls. However, the association between T and autistic traits among subjects with a female older affected sibling was greater at 12 months (test of interaction, P = 0.008) and deficits in reciprocal social behavior at 36 months were also greater (test of interaction, P = 0.006) than in subjects whose older affected sibling was male. CONCLUSIONS: While increased prenatal testosterone levels were not associated with autistic traits at 12 or 36 months, our findings of a positive association in infants whose older ASD-affected siblings were female suggests an androgen-related mechanism that may be dependent on, or related to, genetic liability factors present more often in families containing female ASD cases. However, this initial finding, based on a small subgroup of our sample, should be interpreted with considerable caution. En ligne : http://dx.doi.org/10.1186/s13229-017-0118-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330
in Molecular Autism > 8 (2017) . - 3p.[article] Umbilical cord blood androgen levels and ASD-related phenotypes at 12 and 36 months in an enriched risk cohort study [Texte imprimé et/ou numérique] / B. Y. PARK, Auteur ; Brian K. LEE, Auteur ; Igor BURSTYN, Auteur ; Loni P. TABB, Auteur ; J. A. KEELAN, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; Lisa A. CROEN, Auteur ; M. D. FALLIN, Auteur ; I. HERTZ-PICCIOTTO, Auteur ; O. MONTGOMERY, Auteur ; C. J. NEWSCHAFFER, Auteur . - 3p.
Langues : Anglais (eng)
in Molecular Autism > 8 (2017) . - 3p.
Mots-clés : Adult Androstenedione/*metabolism Autism Spectrum Disorder/metabolism/*psychology Chromatography, Liquid Cohort Studies Dehydroepiandrosterone/*metabolism Female Fetal Blood/*metabolism Humans Infant Linear Models Longitudinal Studies Male Pregnancy Prospective Studies Risk Assessment Severity of Illness Index Siblings/*psychology Tandem Mass Spectrometry Testosterone/*metabolism *Autism *Sex difference *Sibling *Testosterone *Umbilical cord blood Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1 in ASD is a well-recognized but poorly understood phenomenon. An explicit focus on potential etiologic pathways consistent with this sex difference, such as those involving prenatal androgen exposure, may help elucidate causes of ASD. Furthermore, the multi-threshold liability model suggests that the genetic mechanisms in females with ASD may be distinct and may modulate ASD risk in families with female ASD in the pedigree. METHODS: We examined umbilical cord blood from 137 children in the Early Autism Risk Longitudinal Investigation (EARLI) cohort. EARLI is an ASD-enriched risk cohort with all children having an older sibling already diagnosed with ASD. Fetal testosterone (T), androstenedione (A4), and dehyroepiandrosterone (DHEA) levels were measured in cord blood using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Robust linear regression models were used to determine associations between cord blood androgen levels and 12-month Autism Observation Scales for Infants (AOSI) scores and 36-month Social Responsiveness Scale (SRS) scores adjusting for potential confounders. RESULTS: Increasing androgens were not associated with increasing 12-month AOSI score or 36-month total SRS score in either boys or girls. However, the association between T and autistic traits among subjects with a female older affected sibling was greater at 12 months (test of interaction, P = 0.008) and deficits in reciprocal social behavior at 36 months were also greater (test of interaction, P = 0.006) than in subjects whose older affected sibling was male. CONCLUSIONS: While increased prenatal testosterone levels were not associated with autistic traits at 12 or 36 months, our findings of a positive association in infants whose older ASD-affected siblings were female suggests an androgen-related mechanism that may be dependent on, or related to, genetic liability factors present more often in families containing female ASD cases. However, this initial finding, based on a small subgroup of our sample, should be interpreted with considerable caution. En ligne : http://dx.doi.org/10.1186/s13229-017-0118-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330