Skip to main content
Mijn bibliotheek
Shop
Nieuws Boeken Tijdschriften Toetsvragen Web-tv Video Audio
Tips voor Mijn BSL
Inloggen

Welkom bij THIM Hogeschool voor Fysiotherapie & Bohn Stafleu van Loghum

THIM Hogeschool voor Fysiotherapie heeft ervoor gezorgd dat je Mijn BSL eenvoudig en snel kunt raadplegen. Je kunt je links eenvoudig registreren. Met deze gegevens kun je thuis, of waar ook ter wereld toegang krijgen tot Mijn BSL. Heb je een vraag, neem dan contact op met helpdesk@thim.nl.

» Andere revante producten voor THIM studenten en medewerkers.

Registreer

Om ook buiten de locaties van THIM, thuis bijvoorbeeld, van Mijn BSL gebruik te kunnen maken, moet je jezelf eenmalig registreren. Dit kan alleen vanaf een computer op een van de locaties van THIM.

Eenmaal geregistreerd kun je thuis of waar ook ter wereld onbeperkt toegang krijgen tot Mijn BSL.

Login

Als u al geregistreerd bent, hoeft u alleen maar in te loggen om onbeperkt toegang te krijgen tot Mijn BSL.

Inloggen
Top
Journal of Autism and Developmental Disorders
Gepubliceerd in:

20-10-2018 | Original Paper

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

Auteurs: Molly Mishler Thomason, John McCarthy, Robin P. Goin-Kochel, Lauren R. Dowell, Christian P. Schaaf, Leandra N. Berry

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 7/2020

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
    Link delen
publish
Publiceer nu

Abstract

Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)—a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder.
vorige artikel Does an Early Speech Preference Predict Linguistic and Social-Pragmatic Attention in Infants Displaying and Not Displaying Later ASD Symptoms?
volgende artikel Social Decision Making in Autistic Adolescents: The Role of Theory of Mind, Executive Functioning and Emotion Regulation
Literatuur
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders (5th ed.). Arlington: American Psychiatric Association.CrossRef
Bennett, J. A., Germani, T., Haqq, A. M., & Zwaigenbaum, L. (2015). Autism spectrum disorder in Prader-Willi syndrome: A systematic review. American Journal of Medical Genetics A, 167(12), 2936–2944.CrossRef
Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012). Prader-Willi syndrome. Genetics in Medicine, 14(1), 10–26.CrossRef
Constantino, J. N., & Gruber, C. P. (2012). Social Responsiveness Scale (2nd ed.). Los Angeles: Western Psychological Services.
Curfs, L. M. G., & Fryns, J.-P. (1992). Prader-Willi syndrome: A review with special attention to the cognitive and behavioral profile. Birth Defects: Original Article Series, 28(1), 99–104.
Dykens, E. M., Cassidy, S. B., & King, B. H. (1999). Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. American Journal on Mental Retardation, 104(1), 67–77.CrossRef
Dykens, E. M., Hodapp, R. M., Walsh, K., & Nash, L. J. (1992). Adaptive and maladaptive behavior in Prader-Willi syndrome. Journal of the American Academy of Child & Adolescent Psychiatry, 31(6), 1131–1136.CrossRef
Dykens, E. M., & Kasari, C. (1997). Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation. American Journal of Mental Retardation, 102(3), 228–237.CrossRef
Dykens, E. M., Leckman, J. F., & Cassidy, S. B. (1996). Obsessions and compulsions in Prader-Willi syndrome. Journal of Child Psychology and Psychiatry, 37, 995–1002.CrossRef
Dykens, E. M., Lee, E., & Roof, E. (2011). Prader-Willi syndrome and autism spectrum disorders: An evolving story. Journal of Neurodevelopmental Disorders, 3(3), 225–237.CrossRef
Dykens, E. M., & Roof, E. (2008). Behavior in Prader-Willi syndrome: Relationship to genetic subtypes and age. The Journal of Child Psychology and Psychiatry, 49(9), 1001–1008.CrossRef
Dykens, E. M., Roof, E., Hunt-Hawkins, H., Danker, N., Lee, E. B., Shivers, C. M., Daniell, C., & Kim, S.-J. (2017). Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. Journal of Neurodevelopmental Disorders, 9, 18–30.CrossRef
Fountain, M. D., & Schaaf, C. P. (2016). Prader-Willi syndrome and Schaaf-Yang syndrome: Neurodevelopmental diseases intersecting at the MAGEL2 gene. Diseases, 4(1), 2.CrossRef
Goodman, W. K., Price, L. H., Rasmussen, S. A., Mazure, C., Fleischmann, R. L., Hill, C. L., Heninger, G. R., & Charney, D. S. (1989). The Yale-Brown Obsessive Compulsive Scale I: Development, use, and reliability. Archives of General Psychiatry, 46(11), 1006–1011.CrossRef
Hao, Y. H., Fountain, M. D. Jr., Fon Tacer, K., Xia, F., Bi, W., Kang, S. H., Patel, A., Rosenfeld, J. A., Le Caignec, C., ISidor, B., Krantz, I. D., Noon, S. E., Pfotenhauer, J. P., Morgan, T. M., Moran, R., Pedersen, R. C., Saenz, M. S., Schaaf, C. P., & Potts, P. R. (2015). USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder. Molecular Cell, 59(6), 956–969.CrossRef
Harrison, P. F., & Oakland, T. (2015). Adaptive behavior assessment system (3rd ed.). Torrance: Western Psychological Services.
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F. (1993). Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics, 91(2), 398–402.PubMedPubMedCentral
Kim, J. W., Yoo, H. J., Cho, S. C., Hong, K. E., & Kim, B. N. (2005). Behavioral characteristics of Prader-Willi syndrome in Korea: Comparison with children with mental retardation and normal controls. Journal of Child Neurology, 20(2), 134–138.CrossRef
Lord, C., Rutter, M., DiLavore, P. C., Risi, S., Gotham, K., & Bishop, S. (2011). Autism diagnostic observation schedule (2nd ed.). Torrance: Western Psychological Services.
Matarazzo, V., & Muscatelli, F. (2013). Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: A whisper with functional consequences. Rare Diseases, 1, e27221–e272287.CrossRef
McCarthy, J. M., McCann-Crosby, B. M., Rech, M. E., Yin, J., Chen, C. A., Ali, M. A., Nguyen, H. N., Miller, J. L., & Schaaf, C. P. (2018). Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: A comparison to Prader-Willi syndrome. Journal of Medical Genetics, 55(5), 307–315.CrossRef
Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., Sternberg, D., Laquerrière, A., & Melki, J. (2015). Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogyposis. American Journal of Human Genetics, 97(4), 616–620.CrossRef
Mullen, E. M. (1995). Mullen Scales of Early Learning. Circle Pines: American Guidance Service Inc.
Reynolds, C. R., & Kamphaus, R. W. (2015). Behavior Assessment System for Children (3rd ed.). Bloomington: NCS Pearson, Inc.
Rice, L. J., & Einfeld, S. L. (2015). Cognitive and behavioural aspects of Prader-Willi syndrome. Current Opinion in Psychiatry, 28(2), 102–106.CrossRef
Roid, G. H. (2003). Stanford-Binet Intelligence Scales, Fifth Edition. Itasca: Riverside Publishing.
Rutter, M., LeCouteur, A., & Lord, C. (2008). Autism diagnostic interview—Revised. Los Angeles: Western Psychological Services.
Schaaf, C. P., Gonzalez-Garay, M. L., Xia, F., Potocki, L., Gripp, K. W., Zhang, B., … Yang, Y. (2013). Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nature Genetics, 45(11), 1405–1408.CrossRef
Skokauskas, N., Sweeny, E., Meehan, J., & Gallagher, L. (2011). Mental health problems in children with Prader-Willi syndrome. Journal of the Canadian Academy of Child and Adolescent Psychiatry, 21(3), 194–203.
Soden, S. E., Saunders, C. J., & Willig, L. K. (2014). Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Science Translational Medicine, 6(265), 265ra168.CrossRef
Whittington, J., Holland, A., Webb, T., Butler, J., Clarke, D., & Boer, H. (2004). Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome. Journal of Intellectual Disability Research, 48(2), 172–187.CrossRef
Metagegevens
Titel
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
Auteurs
Molly Mishler Thomason
John McCarthy
Robin P. Goin-Kochel
Lauren R. Dowell
Christian P. Schaaf
Leandra N. Berry
Publicatiedatum
20-10-2018
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 7/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-018-3775-7

Andere artikelen Uitgave 7/2020

Construct Validity of the Autism Impact Measure (AIM)

  • Original Paper

Depression, Anxiety, and Hyperactivity in Youth with HFASD: A Replication and Extension of Symptom Level Differences in Self-Report Versus Parent Report

  • Original Paper

Functional Behavior-Based Cognitive-Behavioral Therapy for Obsessive Compulsive Behavior in Children with Autism Spectrum Disorder: A Randomized Controlled Trial

  • Original Paper

State-Level Variation in Vocational Rehabilitation Service Use and Related Outcomes Among Transition-Age Youth on the Autism Spectrum

  • Original Paper

Non-complicit: Revisiting Hans Asperger’s Career in Nazi-era Vienna

  • OriginalPaper

Spanish Cultural Validation of the Modified Checklist for Autism in Toddlers, Revised

  • Original Paper