Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

01-04-2014 | Original Paper

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

Auteurs: Kathleen Angkustsiri, Beth Goodlin-Jones, Lesley Deprey, Khyati Brahmbhatt, Susan Harris, Tony J. Simon

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 4/2014

Abstract

High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.

volgende artikel Parents’ and Child Health Professionals’ Attitudes Towards Dietary Interventions for Children with Autism Spectrum Disorders

American Psychiatric Association. (2000). Quick reference to the diagnostic criteria from DSM-IV-TR. Amer Psychiatric Pub Incorporated.

Antshel, K. M., Aneja, A., Strunge, L., Peebles, J., Fremont, W. P., Stallone, K., et al. (2007). Autistic spectrum disorders in velo-cardio facial syndrome (22q11. 2 deletion). Journal of Autism and Developmental Disorders, 37(9), 1776–1786.PubMedCrossRef

Barneveld, P. S., Pieterse, J., de Sonneville, L., van Rijn, S., Lahuis, B., van Engeland, H., et al. (2011). Overlap of autistic and schizotypal traits in adolescents with autism spectrum disorders. Schizophrenia Research, 126(1–3), 231–236. doi:10.1016/j.schres.2010.09.004.PubMedCrossRef

Bearden, C. E., Woodin, M. F., Wang, P. P., Moss, E., McDonald-McGinn, D., Zackai, E., et al. (2001). The neurocognitive phenotype of the 22q11. 2 deletion syndrome: Selective deficit in visual-spatial memory. Journal of Clinical and Experimental Neuropsychology, 23(4), 447–464.PubMedCrossRef

Berument, S. K., Rutter, M., Lord, C., Pickles, A., & Bailey, A. (1999). Autism screening questionnaire: Diagnostic validity. The British Journal of Psychiatry, 175(5), 444–451.PubMedCrossRef

Campbell, L., McCabe, K., Leadbeater, K., Schall, U., Loughland, C., & Rich, D. (2010). Visual scanning of faces in 22q11.2 deletion syndrome: Attention to the mouth or the eyes? Psychiatry Research, 177(1–2), 211–215. doi:10.1016/j.psychres.2009.06.007.PubMedCrossRef

Campbell, L., Stevens, A. F., McCabe, K., Cruickshank, L., Morris, R. G., Murphy, D. G., et al. (2011). Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? Journal of Neurodevelopmental Disorders, 3(2), 152–161. doi:10.1007/s11689-011-9082-7.

Charman, T., & Baird, G. (2002). Practitioner review: Diagnosis of autism spectrum disorder in 2- and 3-year-old children. Journal of Child Psychology and Psychiatry, 43(3), 289–305.PubMedCrossRef

Chow, E. W., Watson, M., Young, D. A., & Bassett, A. S. (2006). Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophrenia Research, 87(1), 270–278.PubMedCentralPubMedCrossRef

De Smedt, B., Devriendt, K., Fryns, J. P., Vogels, A., Gewillig, M., & Swillen, A. (2007). Intellectual abilities in a large sample of children with Velo–Cardio–facial syndrome: An update. Journal of Intellectual Disability Research, 51(9), 666–670.PubMedCrossRef

Dykens, E., Volkmar, F., & Glick, M. (1991). Though disorder in high-functioning autistic adults. Journal of Autism and Developmental Disorders, 21(3), 291–301.PubMedCrossRef

Eliez, S. (2007). Autism in children with 22q11. 2 deletion syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 46(4), 433–434.PubMedCrossRef

Esterberg, M. L., Ousley, O. Y., Cubells, J. F., & Walker, E. F. (2013). Prodromal and autistic symptoms in schizotypal personality disorder and 22q11.2 deletion syndrome. Journal of Abnormal Psychology, 122(1), 238–249. doi:10.1037/a0028373.PubMedCrossRef

Fine, S. E., Weissman, A., Gerdes, M., Pinto-Martin, J., Zackai, E. H., McDonald-McGinn, D. M., et al. (2005). Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11. 2 deletion syndrome. Journal of Autism and Developmental Disorders, 35(4), 461–470.PubMedCentralPubMedCrossRef

Glaser, B., Dukes, D., Pasca, C., Martinez, S., Chabloz, M., & Eliez, S. (2010). A socio-emotional remediation program for individuals with velo-cardio-facial syndrome. In VCFSEF 17th annual international scientific meeting, Salt Lake City, Utah, July 16–18, 2010.

Glaser, B., Lothe, A., Chabloz, M., Dukes, D., Pasca, C., Redoute, J., et al. (2012). Candidate socioemotional remediation program for individuals with intellectual disability. American Journal on Intellectual and Developmental Disabilities, 117(5), 368–383.

Glaser, B., Schaer, M., Berney, S., Debbane, M., Vuilleumier, P., & Eliez, S. (2007). Structural changes to the fusiform gyrus: A cerebral marker for social impairments in 22q11.2 deletion syndrome? Schizophrenia Research, 96(1–3), 82–86. doi:10.1016/j.schres.2007.08.016.PubMedCrossRef

Harrison, P. L., & Oakland, T. (2003). Adaptive behavior assessment system, 2nd edn. New York: Wiley Online Library.

Ho, J. S., Radoeva, P. D., Jalbrzikowski, M., Chow, C., Hopkins, J., Tran, W. C., et al. (2012). Deficits in mental state attributions in individuals with 22q11.2 deletion syndrome (velo-cardio-facial syndrome). Autism Research, 5(6), 407–418. doi:10.1002/aur.1252.

Jalbrzikowski, M., Carter, C., Senturk, D., Chow, C., Hopkins, J. M., Green, M. F., et al. (2012). Social cognition in 22q11.2 microdeletion syndrome: Relevance to psychosis? Schizophrenia Research, 142(1–3), 99–107. doi:10.1016/j.schres.2012.10.007.

Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183–1215.PubMedCrossRef

Jolin, E. M., Weller, R. A., & Weller, E. B. (2012). Occurrence of affective disorders compared to other psychiatric disorders in children and adolescents with 22q11. 2 deletion syndrome. Journal of Affective Disorders, 136(3), 222–228.PubMedCrossRef

Kates, W. R., Antshel, K. M., Fremont, W. P., Shprintzen, R. J., Strunge, L. A., Burnette, C. P., et al. (2007). Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism. American Journal of Medical Genetics A, 143A(22), 2642–2650. doi:10.1002/ajmg.a.32012.CrossRef

Lord, C., Rutter, M., DiLavore, P. C., & Risi, S. (1999). Autism diagnostic observation schedule-WPS (ADOS-WPS). Los Angeles, CA: Western Psychological Services.

McCabe, K. L., Melville, J. L., Rich, D., Strutt, P. A., Cooper, G., Loughland, C. M., et al. (2013). Divergent patterns of social cognition performance in autism and 22q11.2 deletion syndrome (22q11DS). Journal of Autism and Developmental Disorders. doi:10.1007/s10803-012-1742-2.

Moss, E. M., Batshaw, M. L., Solot, C. B., Gerdes, M., McDonald-McGinn, D. M., Driscoll, D. A., et al. (1999). Psychoeducational profile of the 22q11. 2 microdeletion: A complex pattern. The Journal of pediatrics, 134(2), 193–198.PubMedCrossRef

Murray, D., Molloy, C. A., Akers, R., Bishop, S. L., & Manning-Courtney, P. (2010). Sensitivity and specificity of original and revised ADOS algorithms in a clinical setting. In Paper presented at the international meeting for autism research, Philadelphia, PA, May 20, 2010.

National Research Council. Committee on Educational Interventions for Children with Autism. (2001). Educating children with autism. National Academies Press.

Niklasson, L., Rasmussen, P., Óskarsdóttir, S., & Gillberg, C. (2001). Neuropsychiatric disorders in the 22q11 deletion syndrome. Genetics in Medicine, 3(1), 79–84.PubMedCrossRef

Niklasson, L., Rasmussen, P., Óskarsdóttir, S., & Gillberg, C. (2009). Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Research in Developmental Disabilities, 30(4), 763–773.PubMedCrossRef

Penn, D. L., Sanna, L. J., & Roberts, D. L. (2008). Social cognition in schizophrenia: An overview. Schizophrenia Bulletin, 34(3), 408–411. doi:10.1093/schbul/sbn014.PubMedCentralPubMedCrossRef

Reynolds, C. R., & Kamphaus, R. W. (2006). BASC 2: Behavior assessment system for children. UK: NCS Pearson.

Rumsey, J. M., Andreasen, N. C., & Rapoport, J. L. (1986). Thought, language, communication, and affective flattening in autistic adults. Archives of General Psychiatry, 43(8), 771–777.PubMedCrossRef

Rutter, M., Bailey, A., & Lord, C. (2003a). The social communication questionnaire: Manual. Los Angels, CA: Western Psychological Services.

Rutter, M., Le Couteur, A., & Lord, C. (2003b). ADI-R: Autism diagnostic interview–revised: Manual. Los Angels, CA: Western Psychological Services.

Simon, T. J. (2007). Cognitive characteristics of children with genetic syndromes. Child and adolescent psychiatric clinics of North America, 16(3), 599–616.PubMedCentralPubMedCrossRef

Simon, T. J. (2008). A new account of the neurocognitive foundations of impairments in space, time, and number processing in children with chromosome 22q11. 2 deletion syndrome. Developmental disabilities research reviews, 14(1), 52–58.PubMedCentralPubMedCrossRef

Volker, M. A., Lopata, C., Smerbeck, A. M., Knoll, V. A., Thomeer, M. L., Toomey, J. A., et al. (2010). BASC-2 PRS profiles for students with high-functioning autism spectrum disorders. Journal of Autism and Developmental Disorders, 40(2), 188–199.PubMedCrossRef

Vorstman, J. A., Morcus, M. E., Duijff, S. N., Klaassen, P. W., Heineman-de Boer, J. A., Beemer, F. A., et al. (2006). The 22q11. 2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. Journal of the American Academy of Child & Adolescent Psychiatry, 45(9), 1104–1113.

Wechsler, D. (2003). WISC-IV: Administration and scoring manual. New York: Psychological Corporation.

Titel: Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?
Auteurs: Kathleen Angkustsiri
Beth Goodlin-Jones
Lesley Deprey
Khyati Brahmbhatt
Susan Harris
Tony J. Simon
Publicatiedatum: 01-04-2014
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 4/2014
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-013-1920-x

Andere artikelen Uitgave 4/2014

Disturbed Interplay Between Mid- and High-Level Vision in ASD? Evidence from a Contour Identification Task with Everyday Objects

Original Paper

Social Information Processing in Preschool Children Diagnosed with Autism Spectrum Disorder

Original Paper

Maternal Diabetes and the Risk of Autism Spectrum Disorders in the Offspring: A Systematic Review and Meta-Analysis

Original Paper

Use of a Peer Support Intervention for Promoting Academic Engagement of Students with Autism in General Education Settings

Original Paper

Reduction in Retinal Nerve Fiber Layer Thickness in Young Adults with Autism Spectrum Disorders

Original Paper

Brief Report: The Use of Self-Report Measures in Young People with Autism Spectrum Disorder to Access Symptoms of Anxiety, Depression and Negative Thoughts

Brief Report