Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison
ObjectiveThe etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilitie...
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Frontiers Media S.A.
2022-05-01
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| Series: | Frontiers in Psychiatry |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fpsyt.2022.852208/full |
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| author | Kyra Lubbers Kyra Lubbers Kyra Lubbers Eefje M. Stijl Eefje M. Stijl Eefje M. Stijl Bram Dierckx Bram Dierckx Bram Dierckx Doesjka A. Hagenaar Doesjka A. Hagenaar Doesjka A. Hagenaar Doesjka A. Hagenaar Leontine W. ten Hoopen Leontine W. ten Hoopen Leontine W. ten Hoopen Jeroen S. Legerstee Jeroen S. Legerstee Jeroen S. Legerstee Pieter F. A. de Nijs Pieter F. A. de Nijs Pieter F. A. de Nijs André B. Rietman André B. Rietman André B. Rietman Kirstin Greaves-Lord Kirstin Greaves-Lord Kirstin Greaves-Lord Kirstin Greaves-Lord Manon H. J. Hillegers Manon H. J. Hillegers Manon H. J. Hillegers Gwendolyn C. Dieleman Gwendolyn C. Dieleman Gwendolyn C. Dieleman Sabine E. Mous Sabine E. Mous Sabine E. Mous ENCORE Expertise Center Rianne Oostenbrink Karen C.G.B. Bindels-de Heus Marie-Claire Y. de Wit Henriëtte A. Mol Ype Elgersma |
| author_facet | Kyra Lubbers Kyra Lubbers Kyra Lubbers Eefje M. Stijl Eefje M. Stijl Eefje M. Stijl Bram Dierckx Bram Dierckx Bram Dierckx Doesjka A. Hagenaar Doesjka A. Hagenaar Doesjka A. Hagenaar Doesjka A. Hagenaar Leontine W. ten Hoopen Leontine W. ten Hoopen Leontine W. ten Hoopen Jeroen S. Legerstee Jeroen S. Legerstee Jeroen S. Legerstee Pieter F. A. de Nijs Pieter F. A. de Nijs Pieter F. A. de Nijs André B. Rietman André B. Rietman André B. Rietman Kirstin Greaves-Lord Kirstin Greaves-Lord Kirstin Greaves-Lord Kirstin Greaves-Lord Manon H. J. Hillegers Manon H. J. Hillegers Manon H. J. Hillegers Gwendolyn C. Dieleman Gwendolyn C. Dieleman Gwendolyn C. Dieleman Sabine E. Mous Sabine E. Mous Sabine E. Mous ENCORE Expertise Center Rianne Oostenbrink Karen C.G.B. Bindels-de Heus Marie-Claire Y. de Wit Henriëtte A. Mol Ype Elgersma |
| author_sort | Kyra Lubbers |
| collection | DOAJ |
| description | ObjectiveThe etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation.MethodsWe assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, n = 60), Angelman Syndrome (AS, n = 91), Neurofibromatosis Type 1 (NF1, n = 279) and Tuberous Sclerosis Complex (TSC, n = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale. Assessments were part of routine clinical care at the ENCORE expertise center in Rotterdam, the Netherlands. First, we compared the syndrome groups on the ASD classification prevalence and ASD severity scores. Then, we compared individuals in our syndrome groups with an ASD classification to a non-syndromic ASD group (nsASD, n = 335), on both ASD severity scores and ASD symptom profiles. Severity scores were compared using MANCOVAs with IQ and gender as covariates.ResultsOverall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments' social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain.ConclusionThe syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual's symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology. |
| first_indexed | 2024-04-14T05:27:54Z |
| format | Article |
| id | doaj.art-202fd10196a84dc78ef4070ab5f15967 |
| institution | Directory Open Access Journal |
| issn | 1664-0640 |
| language | English |
| last_indexed | 2024-04-14T05:27:54Z |
| publishDate | 2022-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Psychiatry |
| spelling | doaj.art-202fd10196a84dc78ef4070ab5f159672022-12-22T02:09:55ZengFrontiers Media S.A.Frontiers in Psychiatry1664-06402022-05-011310.3389/fpsyt.2022.852208852208Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome ComparisonKyra Lubbers0Kyra Lubbers1Kyra Lubbers2Eefje M. Stijl3Eefje M. Stijl4Eefje M. Stijl5Bram Dierckx6Bram Dierckx7Bram Dierckx8Doesjka A. Hagenaar9Doesjka A. Hagenaar10Doesjka A. Hagenaar11Doesjka A. Hagenaar12Leontine W. ten Hoopen13Leontine W. ten Hoopen14Leontine W. ten Hoopen15Jeroen S. Legerstee16Jeroen S. Legerstee17Jeroen S. Legerstee18Pieter F. A. de Nijs19Pieter F. A. de Nijs20Pieter F. A. de Nijs21André B. Rietman22André B. Rietman23André B. Rietman24Kirstin Greaves-Lord25Kirstin Greaves-Lord26Kirstin Greaves-Lord27Kirstin Greaves-Lord28Manon H. J. Hillegers29Manon H. J. Hillegers30Manon H. J. Hillegers31Gwendolyn C. Dieleman32Gwendolyn C. Dieleman33Gwendolyn C. Dieleman34Sabine E. Mous35Sabine E. Mous36Sabine E. Mous37ENCORE Expertise CenterRianne OostenbrinkKaren C.G.B. Bindels-de HeusMarie-Claire Y. de Wit Henriëtte A. MolYpe ElgersmaENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of General Paediatrics, Erasmus MC, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsClinical Psychology and Experimental Psychopathology Unit, Department of Psychology, Rijksuniversiteit Groningen, Groningen, NetherlandsYulius Mental Health, Dordrecht, NetherlandsJonx Autism Team Northern-Netherlands, Lentis Mental Health, Groningen, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, NetherlandsDepartment of Child- and Adolescent Psychiatry and Psychology, Erasmus University Medical Center, Rotterdam, NetherlandsChild Brain Center, Erasmus University Medical Center, Rotterdam, NetherlandsObjectiveThe etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation.MethodsWe assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, n = 60), Angelman Syndrome (AS, n = 91), Neurofibromatosis Type 1 (NF1, n = 279) and Tuberous Sclerosis Complex (TSC, n = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale. Assessments were part of routine clinical care at the ENCORE expertise center in Rotterdam, the Netherlands. First, we compared the syndrome groups on the ASD classification prevalence and ASD severity scores. Then, we compared individuals in our syndrome groups with an ASD classification to a non-syndromic ASD group (nsASD, n = 335), on both ASD severity scores and ASD symptom profiles. Severity scores were compared using MANCOVAs with IQ and gender as covariates.ResultsOverall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments' social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain.ConclusionThe syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual's symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology.https://www.frontiersin.org/articles/10.3389/fpsyt.2022.852208/fullFragile X SyndromeAngelman SyndromeTuberous Sclerosis ComplexNeurofibromatosis Type 1autism spectrum disorderautistic traits |
| spellingShingle | Kyra Lubbers Kyra Lubbers Kyra Lubbers Eefje M. Stijl Eefje M. Stijl Eefje M. Stijl Bram Dierckx Bram Dierckx Bram Dierckx Doesjka A. Hagenaar Doesjka A. Hagenaar Doesjka A. Hagenaar Doesjka A. Hagenaar Leontine W. ten Hoopen Leontine W. ten Hoopen Leontine W. ten Hoopen Jeroen S. Legerstee Jeroen S. Legerstee Jeroen S. Legerstee Pieter F. A. de Nijs Pieter F. A. de Nijs Pieter F. A. de Nijs André B. Rietman André B. Rietman André B. Rietman Kirstin Greaves-Lord Kirstin Greaves-Lord Kirstin Greaves-Lord Kirstin Greaves-Lord Manon H. J. Hillegers Manon H. J. Hillegers Manon H. J. Hillegers Gwendolyn C. Dieleman Gwendolyn C. Dieleman Gwendolyn C. Dieleman Sabine E. Mous Sabine E. Mous Sabine E. Mous ENCORE Expertise Center Rianne Oostenbrink Karen C.G.B. Bindels-de Heus Marie-Claire Y. de Wit Henriëtte A. Mol Ype Elgersma Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison Frontiers in Psychiatry Fragile X Syndrome Angelman Syndrome Tuberous Sclerosis Complex Neurofibromatosis Type 1 autism spectrum disorder autistic traits |
| title | Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison |
| title_full | Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison |
| title_fullStr | Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison |
| title_full_unstemmed | Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison |
| title_short | Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison |
| title_sort | autism symptoms in children and young adults with fragile x syndrome angelman syndrome tuberous sclerosis complex and neurofibromatosis type 1 a cross syndrome comparison |
| topic | Fragile X Syndrome Angelman Syndrome Tuberous Sclerosis Complex Neurofibromatosis Type 1 autism spectrum disorder autistic traits |
| url | https://www.frontiersin.org/articles/10.3389/fpsyt.2022.852208/full |
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