Abstract
Many children diagnosed with CHARGE syndrome demonstrate behavioral difficulties in addition to visual, hearing and other systemic impairments. Previous research has reported that children with CHARGE have increased rates of self-injury and aggression, as well as increased frequency of obsessive compulsive and autism spectrum disorders. This study asked parents to report not only the diagnoses given for their child’s behavior problems, but also whether psychotropic medication interventions were prescribed, and which agents were chosen. Results of this study showed that according to parental report, anxiety disorders and pervasive developmental disorders were the most common psychiatric diagnoses assigned with antidepressant and antipsychotic medications the most frequently prescribed psychopharmacological agents.
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American Association of Mental Retardation (2000). Treatment of psychiatric and behavioral problems in mental retardation. American Journal of Mental Retardation, 105(3), 165–188.
Baumeister, A. A., & Sevin, J. A. (1989). Pharmacological control of aberrant behavior in the mentally retarded: Toward a more rational approach. Neuroscience & Biobehavioral Reviews, 14, 253–262.
Berney, T. P., Ireland, M., & Burn, J. (1999) Behavioral phenotype of Cornelia de Lange syndrome. Archives of Disease in Childhood, 81, 333–336.
Bernstein, V., & Denno, L. S. (2005). Repetitive behaviors in CHARGE syndrome: Differential diagnosis and treatment options. American Journal of Medical Genetics, 133A, 232–239.
Blake, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., et al. (1998). CHARGE association: An update and review for the primary pediatrician. Clinical Pediatrics, 37, 159–174.
Borthwick-Duffy, S. A. (1994). Epidemiology and prevalence of psychopathology in people with mental retardation. Journal of Consulting and Clinical Psychology, 62(1), 17–27.
Brown, D. (2005). CHARGE syndrome “behaviors:” Challenges or adaptations? American Journal of Medical Genetics, 133A, 268–272.
Buitelaar, J. K., & Willemsen-Swinkels, S. H. N. (2000). Medication treatment in subjects with autistic spectrum disorders. European Child and Adolescent Psychiatry, 9(1), 85–97.
Carvill, S. (2001). Sensory impairments, intellectual disability and psychiatry. Journal of Intellectual Disability Research, 45(6), 467–483.
Clarke, A. R., Tonge, B. J., Einfeld, S. L., & Mackinnon, A. (2003). Assessment of change with the Developmental Behaviour Checklist. Journal of Intellectual Disabilities Research, 47(Pt 3), 210–212.
Colucci, G., Pellicciotta, A., Buono, S., & Di Nuovo, S. F. (1998). The Rorschach Egocentricity Index in subjects with intellectual disability: A study on the incidence of different psychological pathologies. Journal of Intellectual Disability Research, 42(5), 354–359.
Dekker, M. C., Nunn, R. J., Einfeld, S. E., Tonge, B. J., & Koot, H. M. (2002). Assessing emotional and behavioral problems in children with intellectual disability: Revisiting the factor structure of the developmental behavior checklist. Journal of Autism and Developmental Disorders, 32(6), 601–610.
Eaton, L. F., & Menolascino, F. J. (1982). Psychiatric disorders in the mentally retarded: Types, problems and challenges. American Journal of Psychiatry, 139(10), 1297–1303.
Einfeld, S. L., & Tonge, B. J. (1995). The Developmental Behavioral Checklist: The development and validation of an instrument to assess behavioral and emotional disturbance in children and adolescents with mental retardation. Journal of Autism and Developmental Disorders, 25(2), 81–104.
Fernell, E., Olsson, V. A., Karlgren-Leitner, C., Norlin, B., Hagberg, B., & Gillberg, C. (1999). Autistic disorders in children with CHARGE association. Developmental Medicine and Child Neurology, 41(4), 270–272.
Fineberg, N. A., & Gale, T. M. (2005). Evidence-Based pharmacotherapy of obsessive-compulsive disorder. International Journal of Neuropsychopharmacology, 8, 107–129.
Friedlander, R., Lazar, S., & Klancnik, J. (2001). Atypical antipsychotic use in treating adolescents and young adults with developmental disabilities. Canadian Journal of Psychiatry, 46(8), 741–745.
Geller, D. A., Biederman, J., Stewart, S. E., Mullin, B., Martin, A., Spencer, T., et al. (2003). Which SSRI? A meta-analysis of pharmacotherapy trials in pediatric obsessive-compulsive disorder. American Journal of Psychiatry, 160, 1919–1928.
Hall, B. D. (1979). Choanal atresia and associated multiple anomalies. Journal of Pediatrics, 95(3), 395–398.
Harris, J. C. (1998). Developmental neuropsychiatry volume II: Assessment, diagnosis and treatment of developmental disorders. New York: Oxford University Press.
Hartshorne, T. S., & Cypher, A. D. (2004). Challenging behavior in CHARGE syndrome. Mental Health Aspects of Developmental Disabilities, 7(2), 41–52.
Hartshorne, T. S., Grialou, T. L., & Parker, K. R. (2005). Autistic-like behavior in CHARGE syndrome. American Journal of Medical Genetics, 133A, 257–261.
Hastings, R. P., Brown, T., Mount, R. H., & Cormack, K. F. (2001). Exploration of psychometric properties of the developmental behavior checklist. Journal of Autism and Developmental Disorders, 31(4), 423–431.
Herbert, J. D., Sharp, I. R., & Gaudiano, B. A. (2002). Separating fact from fiction in the etiology and treatment of autism: A scientific review of the evidence. Scientific Review of Mental Health Practice, 1, 23–43.
Hittner, H. M., Hirsch, N. J., Kreh, G. M., & Rudolph, A. J. (1979). Colobomatous micropthalmia, heart disease, hearing loss, and mental retardation—A syndrome. Journal of Pediatric Ophthalmology and Strabismus, 16(2), 122–127.
Iarocci, G., & McDonald J. (2006). Sensory integration and the perceptual experience of persons with autism. Journal of Autism and Developmental Disabilities, 36, 77–90.
Issekutz, K. A., Graham, J. M., Prasad, C., Smith, I. M., & Blake, K. D. (2005). An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study. American Journal of Medical Genetics, 133A, 309–317.
Jacobson, J. W. (1982). Problem behavior and psychiatric impairment within a developmentally disabled population I: Behavior frequency. Applied Research in Mental Retardation, 3, 121–139.
Janowsky, D. S., Shetty, M., Barnhill, J., Elamir, B., & Davis, J. M. (2005). Serotonergic antidepressant effects on aggressive, self-injurious and destructive/disruptive behaviors in intellectually disabled adults: A retrospective, open-label, naturalistic trial. International Journal of Neuropsychopharmacology, 8, 37–48.
Jongmans, M. C. J., Admiraal, R. J., van der Donk, K. P., Vissers, E. L. M., Baas, A. F., Kapusta, L., et al. (2005). CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics, 43(4), 306–314.
Kahng, S., Iwata, B. A., & Lewin, A. (2002). Behavioral treatment of self-injury, 1964–2000. American Journal of Mental Retardation, 107, 212–221.
Lalani, S. R., Safiullah, A. M., Fernbach, S. D., Harutyunyan, K. G., Thaller C., Peterson, L. E., et al. (2006). Spectrum on CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. The American Journal of Human Genetics, 78, 303–314.
LaMalfa, G., Lassi, S., Bertelli, M., & Castellani, A. (2006). Reviewing the use of psychotropic drugs in people with intellectual disability. Human Psychopharmacology, 21, 73–89.
Lauger, K., Cornelius, N., & Keedy, W. (2005). Behavioral features of CHARGE syndrome: Parents’ perspectives of three children with CHARGE syndrome. American Journal of Medical Genetics, 133A, 291–299.
Lewin, A. B., Storch, E. A., Adkins, J., Murphy, T. K., & Geffken, G. R. (2005). Current directions in pediatric obsessive-compulsive disorder. Pediatric Annals, 34(2), 128–134.
MacLean, W. E. (1993). Overview. In J. L. Matson, & R. P. Barrett (Eds.), Psychopathology of the mentally retarded (2nd edn.) (pp. 1–16). Simon & Schuster.
Matson, J. L., Bamburg, J. W., Mayville, E. A., Pinkston, J., Bielecki, J., Kuhn, D. E., et al. (2000). Psychopharmacology and mental retardation: A 10 year review (1990–1999). Research in Developmental Disabilities, 21, 263–296.
Matson, J. L., Benavidiz, D., Compton, L., Paclawskyj, & T. R., Baglio, C. (1996). Behavioral treatment of autistic persons: A review of research from 1980 to present. Research in Developmental Disabilities, 17, 433–465.
Matson, J. L., & Sevin, J. A. (1994). Theories of dual diagnosis in mental retardation. Journal of Consulting and Clinical Psychology, 62(1), 6–16.
Oley, C. A., Baraitser, M., & Grant, D. B. (1988). A reappraisal of the CHARGE association. Journal of Medical Genetics, 25(3), 147–156.
Pagon, R. A., Graham, J. M., Zonana, J., & Yong, S. L. (1981). Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. Journal of Pediatrics, 99(2), 223–227.
Rojahn, J., Matson, J. L., Naglieri, J. A., & Mayville, E. (2004). Relationships between psychiatric conditions and behavior problems among adults with mental retardation. American Journal on Mental Retardation, 109(1), 21–33.
Salem-Hartshorne, N., & Jacob, S. (2004). Characteristics and development of children with CHARGE association/syndrome. Journal of Early Intervention, 26, 292–301.
Salem-Hartshorne, N., & Jacob, S. (2005). Adaptive behavior in children with CHARGE syndrome. American Journal of Medical Genetics, 133A, 262–267.
Schaaf, R. C., & Miller, L. J. (2005). Occupational therapy using a sensory integrative approach for children with developmental disabilities. Mental Retardation and Developmental Disabilities Research Reviews, 11, 143–148.
Schroeder, S. R., Oster-Granite, M. L., Berkson, G., Bodfish, J. W., Breese, G. R., Cataldo, M. F., et al. (2001). Self-injurious behavior: Gene–brain–behavior relationships. Mental Retardation and Developmental Disabilities Research Reviews, 7, 3–12.
Smith, S. A., Koenig, K. P., & Kinnealy, M. (2005a). Effects of sensory integration intervention on self-stimulating and self-injurious behaviors. American Journal of Occupational Therapy, 59, 418–425.
Smith, I. M., Nichols, S. L., Issekutz, I., & Blake, K. D. (2005b). Behavioral profiles and symptoms of autism in CHARGE syndrome: Preliminary Canadian Epidemiological Data. American Journal of Medical Genetics, 133A, 248–256.
Stromland K., Miller, M., Ekman-Joelsson, B. M., Sjogreen, L., Anderssson-Norinder, J., Jacobsson C., et al. (2003). Malformations in CHARGE association arise during a limited time period early in pregnancy. Birth Defects Research, 67, 316.
Souriau, J., Gimenes, M., Blouin, C., Benbrik, I., Benbrik, E., Churakowskyi, A., et al. (2005). CHARGE syndrome: Developmental and behavioral data. American Journal of Medical Genetics, 133A, 278–281.
Tellier, A. L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet D., et al. (1998). CHARGE Syndrome: Report of 47 Cases and Review. American Journal of Medical Genetics, 76, 402–409.
Thelin, J. W., & Fussner, J. C. (2005). Factors related to the development of communication in CHARGE syndrome. American Journal of Medical Genetics, 133A, 282–290.
Tierney, E., Nwokoro, N. A., Porter, F. D., Freund, L. S., Ghuman, J. K., & Kelley, R. I. (2001). Behavioral phenotype in the RSH/Smith–Lemli–Opitz syndrome. American Journal of Medical Genetics, 98, 191–200.
Van Dijk, J. P. M., & de Kort, A. (2005). Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome. American Journal of Medical Genetics, 133A, 273–277.
Verloes, A. (2005). Updated diagnostic criteria for CHARGE syndrome: A proposal. American Journal of Medical Genetics, 133A, 306–308.
Vissers, L. E. L. M., & van Ravenswaaij, C. M. A. (2004). Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36(9), 955–957.
White, P., Chant, D., Edwards N., Townsend, C., Waghorn, G. (2005). Prevalence of intellectual disability and cormorbid mental illness in an Australian community sample. Australian and New Zealand Journal of Psychiatry, 39, 395–400.
Willekens, D., DeCock, P., & Fryns, J. P. (2000). Three young children with Smith–Magenis syndrome: Their distinct, recognizable behavioural phenotype as the most important clinical symptoms. Genetic Counseling, 11(2), 103–110.
Acknowledgments
The authors would like to thank the many CHARGE parents for their tireless efforts in completing multiple surveys about their children. Our gratitude goes out as well to the CHARGE children for allowing us to learn more them.
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Wachtel, L.E., Hartshorne, T.S. & Dailor, A.N. Psychiatric Diagnoses and Psychotropic Medications in CHARGE Syndrome: A Pediatric Survey. J Dev Phys Disabil 19, 471–483 (2007). https://doi.org/10.1007/s10882-007-9064-6
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DOI: https://doi.org/10.1007/s10882-007-9064-6