Skip to main content
Top
Gepubliceerd in: Journal of Autism and Developmental Disorders 5/2022

27-05-2021 | Original Paper

The prevalence and profile of autism in Sturge–Weber syndrome

Auteurs: Jenny Sloneem, Jo Moss, Sebastian Powell, Christina Hawkins, Tang Fosi, Hanna Richardson, Sarah Aylett

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2022

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

Abstract

A systematic retrospective case note review was undertaken to investigate autism diagnostic factors in 124 individuals with Sturge-Weber syndrome (SWS). Social Responsiveness Scale questionnaires were then analysed to explore the severity and profile of autism characteristics in 70 participants. Thirty-two to forty percent of participants had a clinical diagnosis of autism and half of those without a diagnosis showed significant social communication difficulties. Children had a relative strength in social awareness and social motivation, which are typically much reduced in people with autism. This finding may explain why, to date, the diagnosis has often been overlooked in this population. The research therefore suggests that children with Sturge-Weber should be screened to identify social communications difficulties and provided with timely support.
Literatuur
go back to reference Alkonyi, B., Chugani, H. T., Karia, S., Behen, M. E., & Juhasz, C. (2011). Clinical outcomes in bilateral Sturge-Weber syndrome. Pediatric Neurology, 44(6), 443–449CrossRefPubMedPubMedCentral Alkonyi, B., Chugani, H. T., Karia, S., Behen, M. E., & Juhasz, C. (2011). Clinical outcomes in bilateral Sturge-Weber syndrome. Pediatric Neurology, 44(6), 443–449CrossRefPubMedPubMedCentral
go back to reference Bayley, N. (2005). Bayley scales of infant and toddler development. (3rd ed.). Pearson: London UK. Bayley, N. (2005). Bayley scales of infant and toddler development. (3rd ed.). Pearson: London UK.
go back to reference Bolte, S., Poustka, F., & Constantino, J. N. (2008). Assessing autistic traits: Cross-cultural validation of the social responsiveness scale (SRS). Autism Research, 1, 354–363CrossRefPubMed Bolte, S., Poustka, F., & Constantino, J. N. (2008). Assessing autistic traits: Cross-cultural validation of the social responsiveness scale (SRS). Autism Research, 1, 354–363CrossRefPubMed
go back to reference Bromley, R. L., Mawer, G. E., Briggs, M., Cheyne, C., Clayton-Smith, J., García-Fiñana, M., Kneen, R., Lucas, S. B., Shallcross, R., & Baker, G. A. (2013). Liverpool and manchester neurodevelopment group. The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs. Journal of Neurology and Neurosurgery Psychiatry, 84(6), 637–43CrossRef Bromley, R. L., Mawer, G. E., Briggs, M., Cheyne, C., Clayton-Smith, J., García-Fiñana, M., Kneen, R., Lucas, S. B., Shallcross, R., & Baker, G. A. (2013). Liverpool and manchester neurodevelopment group. The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs. Journal of Neurology and Neurosurgery Psychiatry, 84(6), 637–43CrossRef
go back to reference Chapieski, L., Friedman, A., & Lachar, D. (2000). Psychological functioning in children and adolescents with sturge-weber syndrome. Journal of Child Neurology, 15, 660–665CrossRefPubMed Chapieski, L., Friedman, A., & Lachar, D. (2000). Psychological functioning in children and adolescents with sturge-weber syndrome. Journal of Child Neurology, 15, 660–665CrossRefPubMed
go back to reference Christensen, J., Grønborg, T. K., Sørensen, M. J., Schendel, D., Partner, E. T., Pedersen, L. H., & Vestergaard, M. (2013). Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. The Journal of the American Medical Association, 309(16), 1696–1703CrossRefPubMed Christensen, J., Grønborg, T. K., Sørensen, M. J., Schendel, D., Partner, E. T., Pedersen, L. H., & Vestergaard, M. (2013). Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. The Journal of the American Medical Association, 309(16), 1696–1703CrossRefPubMed
go back to reference Constantino, J. N., & Gruber, C. P. (2002). The social responsiveness scale. Los Angeles: Western Psychological Services. Constantino, J. N., & Gruber, C. P. (2002). The social responsiveness scale. Los Angeles: Western Psychological Services.
go back to reference Constantino, J. N., & Gruber, C. P. (2012). Social responsiveness scale. (2nd ed.). Western Psychological Services. Constantino, J. N., & Gruber, C. P. (2012). Social responsiveness scale. (2nd ed.). Western Psychological Services.
go back to reference Constantino, J. N., Davis, S. A., Todd, R. D., Schindler, M. K., Gross, M. M., Brophy, S. L., Metzger, L. M., Shoushtari, C. S., Splinter, R., & Reich, W. (2003). Validation of a brief quantitative measure of autistic traits: Comparison of the social responsiveness scale with the autism diagnostic interview-revised. Journal of Autism and Developmental Disorders., 33, 427–433CrossRefPubMed Constantino, J. N., Davis, S. A., Todd, R. D., Schindler, M. K., Gross, M. M., Brophy, S. L., Metzger, L. M., Shoushtari, C. S., Splinter, R., & Reich, W. (2003). Validation of a brief quantitative measure of autistic traits: Comparison of the social responsiveness scale with the autism diagnostic interview-revised. Journal of Autism and Developmental Disorders., 33, 427–433CrossRefPubMed
go back to reference Coste, J., Blotiere, P. O., Miranda, S., Mikaeloff, Y., Peyre, H., Ramus, F., Zureik, M., Weill, A., & Dray-Spira, R. (2020). Risk of early neurodevelopmental disorders associated with in utero exposure to valproate and other antiepileptic drugs: A nationwide cohort study in France. Scientific Reports, 10(1), 17362CrossRefPubMedPubMedCentral Coste, J., Blotiere, P. O., Miranda, S., Mikaeloff, Y., Peyre, H., Ramus, F., Zureik, M., Weill, A., & Dray-Spira, R. (2020). Risk of early neurodevelopmental disorders associated with in utero exposure to valproate and other antiepileptic drugs: A nationwide cohort study in France. Scientific Reports, 10(1), 17362CrossRefPubMedPubMedCentral
go back to reference Cuccaro, M. L., Tuchman, R. F., Hamilton, K. L., Wright, H. H., Abramson, R. K., Haine, J. L., Gilbert, J. R., & Pericak-Vance, M. (2012). Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis. Journal of Autism and Developmental Disorders., 42, 1630–1641CrossRefPubMed Cuccaro, M. L., Tuchman, R. F., Hamilton, K. L., Wright, H. H., Abramson, R. K., Haine, J. L., Gilbert, J. R., & Pericak-Vance, M. (2012). Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis. Journal of Autism and Developmental Disorders., 42, 1630–1641CrossRefPubMed
go back to reference Doo, J. W., Kim, S., & Kim, S. J. (2018). Influence of valproate on language functions in children with epilepsy. Epilepsy & Behavior, 78, 68–72CrossRef Doo, J. W., Kim, S., & Kim, S. J. (2018). Influence of valproate on language functions in children with epilepsy. Epilepsy & Behavior, 78, 68–72CrossRef
go back to reference Gittins, S., Steel, D., Brunklaus, A., Newsom-Davis, I., Hawkins, C., & Aylett, S. E. (2018). Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. Epilepsy and Behaviour., 88, 1–4CrossRef Gittins, S., Steel, D., Brunklaus, A., Newsom-Davis, I., Hawkins, C., & Aylett, S. E. (2018). Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. Epilepsy and Behaviour., 88, 1–4CrossRef
go back to reference Goodman, R. (1997). The strengths and difficulties questionnaire: A research note. Journal of Child Psychology and Psychiatry., 38, 581–586CrossRefPubMed Goodman, R. (1997). The strengths and difficulties questionnaire: A research note. Journal of Child Psychology and Psychiatry., 38, 581–586CrossRefPubMed
go back to reference Griffiths, R. (1996). The Griffiths Mental Development Scales: from birth to 2 years. Revision by Huntley M. M H, editor: The Test Agency Ltd. Griffiths, R. (1996). The Griffiths Mental Development Scales: from birth to 2 years. Revision by Huntley M. M H, editor: The Test Agency Ltd.
go back to reference Järvinen, A., Ng, R., Crivelli, D., Neumann, D., Grichanik, M., Arnold, A. J., Lai, P., Trauner, D., & Bellugi, U. (2015). Patterns of sensitivity to emotion in children with Williams syndrome and autism: Relations between autonomic nervous system reactivity and social functioning. Journal of Autism and Developmental Disorders., 45(8), 2594–2612CrossRefPubMedPubMedCentral Järvinen, A., Ng, R., Crivelli, D., Neumann, D., Grichanik, M., Arnold, A. J., Lai, P., Trauner, D., & Bellugi, U. (2015). Patterns of sensitivity to emotion in children with Williams syndrome and autism: Relations between autonomic nervous system reactivity and social functioning. Journal of Autism and Developmental Disorders., 45(8), 2594–2612CrossRefPubMedPubMedCentral
go back to reference Kavanaugh, B., Sreenivasan, A., Bachur, C., Papazogiou, A., Comi, A., & Zabel, T. A. (2016). Intellectual and adaptive functioning in Sturge-Weber Syndrome. Child Neuropsychology, 22(6), 635–648CrossRefPubMed Kavanaugh, B., Sreenivasan, A., Bachur, C., Papazogiou, A., Comi, A., & Zabel, T. A. (2016). Intellectual and adaptive functioning in Sturge-Weber Syndrome. Child Neuropsychology, 22(6), 635–648CrossRefPubMed
go back to reference Ko, C., Kim, N., Kim, E., Song, D. H., & Cheon, K. A. (2016). The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum disorder. Behavioral and Brain Functions, 12(20), 2–9 Ko, C., Kim, N., Kim, E., Song, D. H., & Cheon, K. A. (2016). The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum disorder. Behavioral and Brain Functions, 12(20), 2–9
go back to reference Leekam, S., Tandos, J., McConachie, H., Meins, E., Parkinson, K., Wright, C., Turner, M., Arnott, B., Vittorini, L., & Le Couteur, A. (2007). Repetitive behaviours in typically developing 2 year-olds. Journal of Child Psychology and Psychiatry, 48(11), 1131–1138CrossRefPubMed Leekam, S., Tandos, J., McConachie, H., Meins, E., Parkinson, K., Wright, C., Turner, M., Arnott, B., Vittorini, L., & Le Couteur, A. (2007). Repetitive behaviours in typically developing 2 year-olds. Journal of Child Psychology and Psychiatry, 48(11), 1131–1138CrossRefPubMed
go back to reference Loomes, R., Hull, L., & Mandy, W. P. L. (2017). What Is the male-to-female ratio in autism recent systematic review and meta-analysis. Journal of the American Academy of Child & Adolescent Psychiatry., 56(6), 466–474CrossRef Loomes, R., Hull, L., & Mandy, W. P. L. (2017). What Is the male-to-female ratio in autism recent systematic review and meta-analysis. Journal of the American Academy of Child & Adolescent Psychiatry., 56(6), 466–474CrossRef
go back to reference Lundström, S., Reichenberg, A., Anckarsäter, H., Lichtenstein, P., & Gillberg, C. (2015). Autism phenotype versus registered diagnosis in Swedish children: Prevalence trends over 10 years in general population samples. British Medical Journal, 350, 1961 Lundström, S., Reichenberg, A., Anckarsäter, H., Lichtenstein, P., & Gillberg, C. (2015). Autism phenotype versus registered diagnosis in Swedish children: Prevalence trends over 10 years in general population samples. British Medical Journal, 350, 1961
go back to reference Moss, J., Oliver, C., Nelson, L., Richards, C., & Hall, S. (2013). Delineating the profile of autism spectrum disorder characteristics in Cornelia de lange and fragile X syndromes. American Journal of Intellectual and Developmental Disabilities, 118(1), 55–73CrossRef Moss, J., Oliver, C., Nelson, L., Richards, C., & Hall, S. (2013). Delineating the profile of autism spectrum disorder characteristics in Cornelia de lange and fragile X syndromes. American Journal of Intellectual and Developmental Disabilities, 118(1), 55–73CrossRef
go back to reference Newschaffer, C. J., Croen, L. A., Daniels, J., Giarelli, E., Grether, J. K., Levy, S. E., Mandell, D. S., Miller, L. A., Pinto-Martin, J., Reaven, J., Reynolds, A. M., Rice, C. E., Schendel, D., & Windham, G. C. (2007). The epidemiology of autism spectrum disorders. Annual Review of Public Health, 28, 235–258CrossRefPubMed Newschaffer, C. J., Croen, L. A., Daniels, J., Giarelli, E., Grether, J. K., Levy, S. E., Mandell, D. S., Miller, L. A., Pinto-Martin, J., Reaven, J., Reynolds, A. M., Rice, C. E., Schendel, D., & Windham, G. C. (2007). The epidemiology of autism spectrum disorders. Annual Review of Public Health, 28, 235–258CrossRefPubMed
go back to reference Pardoe, H. R., Berg, A. T., & Jackson, G. D. (2013). Sodium valproate use is associated with reduced parietal lobe thickness and brain volume. Neurology, 80(20), 1895–1900CrossRefPubMedPubMedCentral Pardoe, H. R., Berg, A. T., & Jackson, G. D. (2013). Sodium valproate use is associated with reduced parietal lobe thickness and brain volume. Neurology, 80(20), 1895–1900CrossRefPubMedPubMedCentral
go back to reference Prats, J. M., Garaizar, C., Rua, M. J., Garcia-Nieto, M. L., & Madoz, P. (1991). Infantile spasms treated with high doses of sodium valproate: Initial response and follow-up. Developmental Medicine and Child Neurology, 33(7), 617–625CrossRefPubMed Prats, J. M., Garaizar, C., Rua, M. J., Garcia-Nieto, M. L., & Madoz, P. (1991). Infantile spasms treated with high doses of sodium valproate: Initial response and follow-up. Developmental Medicine and Child Neurology, 33(7), 617–625CrossRefPubMed
go back to reference Reynell, J. (1979). Manual for the Reynell-Zinkin scales, developmental scales for young Visually handicapped children -part 1 Mental Development. NFER-Nelson Publishing Company. Reynell, J. (1979). Manual for the Reynell-Zinkin scales, developmental scales for young Visually handicapped children -part 1 Mental Development. NFER-Nelson Publishing Company.
go back to reference Salomone, E., Charman, T., McConachie, H. & Warreyn, P. (2016). Child’s verbal ability and gender are associated with age at diagnosis in a sample of young children with ASD in Europe. Child: Care, Health and Development, 42(1), 141–145. Salomone, E., Charman, T., McConachie, H. & Warreyn, P. (2016). Child’s verbal ability and gender are associated with age at diagnosis in a sample of young children with ASD in Europe. Child: Care, Health and Development, 42(1), 141–145.
go back to reference Semel, E., Wiig, E. H., & Secord, W. (2006). The clinical evaluation of language fundamentals- preschool 2 UK (P-CELF-2). Pearson. Semel, E., Wiig, E. H., & Secord, W. (2006). The clinical evaluation of language fundamentals- preschool 2 UK (P-CELF-2). Pearson.
go back to reference Semel, E., Wiig, E. H., & Secord, W. (2017). Clinical Evaluation of Language Fundamentals - Fifth Edition (CELF-5 UK). Pearson. Semel, E., Wiig, E. H., & Secord, W. (2017). Clinical Evaluation of Language Fundamentals - Fifth Edition (CELF-5 UK). Pearson.
go back to reference Shirley, M. D., Tang, H., Gallione, C. J., Baugher, J. D., Frelin, L. P., Cohen, B., North, P. E., Marchuk, D. A., Comi, A. M., & Pevsner, J. (2013). Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. New England Journal of Medicine, 368(21), 1971–1979CrossRefPubMed Shirley, M. D., Tang, H., Gallione, C. J., Baugher, J. D., Frelin, L. P., Cohen, B., North, P. E., Marchuk, D. A., Comi, A. M., & Pevsner, J. (2013). Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. New England Journal of Medicine, 368(21), 1971–1979CrossRefPubMed
go back to reference Sparrow, S. S., Cicchetti, D. V., & Saulnier, C. A. (2017). Vineland adaptive behaviour scales. (3rd ed.). Pearson. Sparrow, S. S., Cicchetti, D. V., & Saulnier, C. A. (2017). Vineland adaptive behaviour scales. (3rd ed.). Pearson.
go back to reference Suskauer, S. J., Trocatom, M. K., Zabel, T. A., & Comi, A. M. (2010). Physiatric findings in individuals with sturge weber syndrome. American Journal of Physical Medicine and Rehabilitation, 89(4), 323–330CrossRefPubMed Suskauer, S. J., Trocatom, M. K., Zabel, T. A., & Comi, A. M. (2010). Physiatric findings in individuals with sturge weber syndrome. American Journal of Physical Medicine and Rehabilitation, 89(4), 323–330CrossRefPubMed
go back to reference Tondelli, M., Vaudano, A. E., Sisodiya, S. M., & Meletti, S. (2020). Valproate use is associated with posterior cortical thinning and ventricular enlargement in epilepsy patients. Frontiers in Neurology, 11, 622CrossRefPubMedPubMedCentral Tondelli, M., Vaudano, A. E., Sisodiya, S. M., & Meletti, S. (2020). Valproate use is associated with posterior cortical thinning and ventricular enlargement in epilepsy patients. Frontiers in Neurology, 11, 622CrossRefPubMedPubMedCentral
go back to reference Turin, R., Grados, M. A., Tierny, E., Ferenc, L. M., Zabel, A., & Comi, A. M. (2010). Behavioral and psychiatric features of Sturge Weber Syndrome. Journal of Nervous and Mental Disease, 198(12), 905–913CrossRefPubMed Turin, R., Grados, M. A., Tierny, E., Ferenc, L. M., Zabel, A., & Comi, A. M. (2010). Behavioral and psychiatric features of Sturge Weber Syndrome. Journal of Nervous and Mental Disease, 198(12), 905–913CrossRefPubMed
go back to reference Turk, J., Bax, M., Williams, C., Amin, P., Eriksson, M., & Gillberg, C. (2009). Autism spectrum disorder in children with and without epilepsy: impact on social functioning and communication. Acta Paediatrica, 98, 675–681CrossRefPubMed Turk, J., Bax, M., Williams, C., Amin, P., Eriksson, M., & Gillberg, C. (2009). Autism spectrum disorder in children with and without epilepsy: impact on social functioning and communication. Acta Paediatrica, 98, 675–681CrossRefPubMed
go back to reference Viscidi, E. W., Johnson, A. L., Spence, S. J., Buka, S. L., Morrow, E., & Triche, E. W. (2014). The association between epilepsy and autism symptoms and maladaptive behaviors in children with Autism Spectrum Disorder. Autism, 18(8), 996–1006CrossRefPubMed Viscidi, E. W., Johnson, A. L., Spence, S. J., Buka, S. L., Morrow, E., & Triche, E. W. (2014). The association between epilepsy and autism symptoms and maladaptive behaviors in children with Autism Spectrum Disorder. Autism, 18(8), 996–1006CrossRefPubMed
go back to reference Waelchli, R., Aylett, S. E., Robinson, K., Chong, W. K., Martinez, A. E., & Kinsler, V. A. (2014). New vascular classification of port-wine stains: Improving prediction of Sturge-Weber risk. British Journal of Dermatology, 171(4), 1–7CrossRef Waelchli, R., Aylett, S. E., Robinson, K., Chong, W. K., Martinez, A. E., & Kinsler, V. A. (2014). New vascular classification of port-wine stains: Improving prediction of Sturge-Weber risk. British Journal of Dermatology, 171(4), 1–7CrossRef
go back to reference Wechsler, D. (2013). Wechsler preschool & primary scale of intelligence. (4th ed.). London, UK: Pearson Clinical. Wechsler, D. (2013). Wechsler preschool & primary scale of intelligence. (4th ed.). London, UK: Pearson Clinical.
go back to reference Wechsler, D. (2016). Wechsler intelligence scale for children. (5th ed.). London, UK: Pearson Clinical. Wechsler, D. (2016). Wechsler intelligence scale for children. (5th ed.). London, UK: Pearson Clinical.
go back to reference Wechsler, D. (2010). Wechsler adult intelligence scale. (4th ed.). London, UK: Pearson Clinical. Wechsler, D. (2010). Wechsler adult intelligence scale. (4th ed.). London, UK: Pearson Clinical.
go back to reference Wechsler, D., & Naglieri, J. A. (2006). Wechsler nonverbal scale of ability (WNV). London, UK: Pearson Clinical. Wechsler, D., & Naglieri, J. A. (2006). Wechsler nonverbal scale of ability (WNV). London, UK: Pearson Clinical.
go back to reference Wechsler. (1999). Wechsler abbreviated scale of intelligence (WASI). London UK: Pearson Clinical. Wechsler. (1999). Wechsler abbreviated scale of intelligence (WASI). London UK: Pearson Clinical.
go back to reference Wigham, S., McConachie, H., Tandos, J., & Le Couteur, A. S. (2011). The reliability and validity of the Social Responsiveness Scale in a UK general child population. Research in Developmental Disabilities, 33(3), 944–950CrossRef Wigham, S., McConachie, H., Tandos, J., & Le Couteur, A. S. (2011). The reliability and validity of the Social Responsiveness Scale in a UK general child population. Research in Developmental Disabilities, 33(3), 944–950CrossRef
go back to reference Wing, L., & Potter, D. (2002). The epidemiology of autistic spectrum disorders: is the prevalence rising? Mental Retardation and Developmental Disabilities Research Reviews, 8(3), 151–161CrossRefPubMed Wing, L., & Potter, D. (2002). The epidemiology of autistic spectrum disorders: is the prevalence rising? Mental Retardation and Developmental Disabilities Research Reviews, 8(3), 151–161CrossRefPubMed
go back to reference Wood, A. G., Chen, J., Barton, S., Nadebaum, C., Anderson, V. A., Catroppa, C., Reutens, D. C., O’Brien, T. J., & Vajda, F. (2014). Altered cortical thickness following prenatal sodium valproate exposure. Annals of Clinical and Translational Neurology, 1(7), 497–501CrossRefPubMedPubMedCentral Wood, A. G., Chen, J., Barton, S., Nadebaum, C., Anderson, V. A., Catroppa, C., Reutens, D. C., O’Brien, T. J., & Vajda, F. (2014). Altered cortical thickness following prenatal sodium valproate exposure. Annals of Clinical and Translational Neurology, 1(7), 497–501CrossRefPubMedPubMedCentral
go back to reference Zimmerman, I. L., Pond, R. E., & Steiner, V. G. (2014). The preschool language scales. (5th ed.). London UK: Pearson Clinical. Zimmerman, I. L., Pond, R. E., & Steiner, V. G. (2014). The preschool language scales. (5th ed.). London UK: Pearson Clinical.
Metagegevens
Titel
The prevalence and profile of autism in Sturge–Weber syndrome
Auteurs
Jenny Sloneem
Jo Moss
Sebastian Powell
Christina Hawkins
Tang Fosi
Hanna Richardson
Sarah Aylett
Publicatiedatum
27-05-2021
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 5/2022
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-021-05062-0

Andere artikelen Uitgave 5/2022

Journal of Autism and Developmental Disorders 5/2022 Naar de uitgave