Top

Journal of Autism and Developmental Disorders

Gepubliceerd in:

01-04-2007 | ORIGINAL PAPER

Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation

Auteurs: Sally Clifford, Cheryl Dissanayake, Quang M. Bui, Richard Huggins, Annette K. Taylor, Danuta Z. Loesch

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 4/2007

Abstract

The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5–80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view.

vorige artikel The Effects of PECS Teaching to Phase III on the Communicative Interactions between Children with Autism and their Teachers

volgende artikel Social and Communication Abilities and Disabilities in Higher Functioning Individuals with Autism Spectrum Disorders: The Vineland and the ADOS

The rating of seven is given when abnormal behaviour of a type that is not encompassed by the other ratings is apparent, and eight is assigned when the behaviour does not occur and/or the rating is not applicable. These latter ratings cannot be used in the algorithm and are therefore given sparingly.

American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders (4th ed., text revised.). Washington, DC: American Psychiatric Association.

Bailey, A., Bolton, P., Butler, L., Le Couteur, A., Murphy, M., Scott, S., Webb, T., & Rutter, M. (1993). Prevalence of the fragile X anomaly amongst autistic twins and singletons. Journal of Child Psychology and Psychiatry, 34, 673–688.PubMedCrossRef

Bailey, D. B., Hatton, D. D., Mesibov, G., Ament, N., & Skinner, M. (2000). Early development, temperament, and functional impairment in autism and fragile X syndrome. Journal of Autism and Developmental Disorders, 30, 49–59.PubMedCrossRef

Bailey, D. B., Hatton, D. D., Skinner, M., & Mesibov, G. (2001). Autistic behavior, FMR1 protein, and developmental trajectories in young males with Fragile X syndrome. Journal of Autism and Developmental Disorders, 31, 165–174.PubMedCrossRef

Bailey, D. B., Mesibov, G. B., Hatton, D. D., Clark, R. D., Roberts, J. E., & Mayhew, L. (1998). Autistic behavior in young boys with Fragile X syndrome. Journal of Autism and Developmental Disorders, 28, 499–508.PubMedCrossRef

Bailey, A., Palferman, S., Heavey, L., & Le Couteur, A. (1998). Autism: The phenotype in relatives. Journal of Autism and Developmental Disorders, 28, 369–392.PubMedCrossRef

Bailey, A., Phillips, W., & Rutter, M. (1996). Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. Journal of Child Psychology and Psychiatry, 37, 89–126.PubMedCrossRef

Baumgardner, T., Reiss, A. L., Freund, L., & Abrams, M. (1995). Specification of the neurobehavioural phenotype in males with fragile X syndrome. Pediatrics, 95, 744–752.PubMed

Brown, W.T., Jenkins, E.C., Cohen, I.L., Fisch, G.S., Wolf-Schein, E.G., Gross, A., Waterhouse, L., Fein, D., Mason-Brothers, A., & Ritvo, E. (1986). Fragile X and autism: A multicenter survey. American Journal of Medical Genetics, 23, 341–352.PubMedCrossRef

Brown, W. T., Jenkins, E. C., Friedman, E., Brooks, J., Wisniewski, K., Raguthu, S., & French, J. (1982). Autism is associated with the fragile-X syndrome. Journal of Autism and Developmental Disordesr, 12, 303–308.CrossRef

Cohen, I. L. (1995). Behavioural profiles of autistic and non-autistic fragile X males. Mental Retardation and Developmental Disabilities Research Reviews, 1, 286–291.CrossRef

Cook, E. H. (2001). Genetics of autism. Child and Adolescent Psychiatry Clinics of North America, 10, 333–350.

de Vries, B. B., Wiegers, A. M., Smits, A. P., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., Curfs, L. M., Halley, D. J., Oostra, B. A., van den Ouweland, A. M., & Niermeijer, M. F. (1996). Mental status of females with an FMR1 gene full mutation. American Journal of Medical Genetics, 58, 1025–1032.

Dykens, E. M., & Volkmar, F. R. (1997). Medical conditions associated with autism. In D. J. Cohen, & F. R. Volkmar, (Eds.), Handbook of autism and pervasive developmental disorders. (2nd ed.) (pp. 388–410). New York: Wiley.

Feinstein, C., & Reiss, A. L. (1998). Autism: The point of view from fragile X studies. Journal of Autism and Developmental Disorders, 28, 393–405.PubMedCrossRef

Fisch, G. S. (1993). What is associated with the fragile X syndrome. American Journal of Medical Genetics, 48, 112–121.PubMedCrossRef

Fombonne, E. (2003). Epidemiological surveys of autism and other pervasive developmental disorders: An update. Journal of Autism and Developmental Disorders, 33, 365–382.PubMedCrossRef

Fombonne, E., Du Mazaubrun, C., Cans, C., & Grandjean, H. (1997). Autism and associated medical disorders in a French epidemiological survey. Journal of the American Academy of Child & Adolescent Psychiatry, 36, 1561–1569.CrossRef

Gillberg, C. (1998). Chromosomal disorders and autism. Journal of Autism and Developmental Disorders, 28, 415–425.PubMedCrossRef

Hagerman, R. J. (1991). Physical and behavioral phenotype. In R. J. Hagerman, & A. Silverman, (Eds.), Fragile X syndrome: Diagnosis, treatment, and research. (pp. 3–68). Baltimore: The John Hopkins University Press.

Hagerman, R. J. (1999). Fragile X syndrome. In R. J. Hagerman (Ed.), Neurodevelopmental disorders: Diagnosis and treatment. (pp. 61–132). New York: Oxford University Press.

Hagerman, R. J. (2002). Physical and behavioral phenotype. In R. J. Hagerman, & P. J. Hagerman, (Eds.), Fragile X syndrome: Diagnosis, treatment, and research, (3rd ed.,) (pp. 3–87). Baltimore, MD: The John Hopkins University Press.

Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., & Braden, M. (1986). An analysis of autism in fifty males with the fragile X syndrome. American Journal of Medical Genetics, 23, 359–374.PubMedCrossRef

Irwin, S. A, Swain, R. A., Christmon, C. A., Chakravarti, A., Weiler, I. J., & Greenough, W. T. (2000). Evidence for altered Fragile-X mental retardation protein expression in response to behavioral stimulation. Neurobiology of Learning and Memory, 73, 87–93.PubMedCrossRef

Kaufmann, W. E., Cortell, R., Kau, A., Bukelis, I., Tierney, E., Gray, R. M., Cox, C., Capone, G. T., & Stanard, P. (2004). Autism Spectrum Disorder in Fragile X Syndrome: Communication, social interaction, and specific behaviors. American Journal of Medical Genetics, 129, 225–234.PubMedCrossRef

Kerby, D. S., & Dawson, B. L. (1994). Autistic features, personality, and adaptive behavior in males with the fragile X syndrome and no autism. American Journal of Mental Retardation, 98, 455–462.PubMed

Lachiewicz, A., Spiridigliozzi, G., Gullion, C., Ransford, S., & Rao, K. (1994). Aberrant behaviors of young boys with fragile X syndrome. American Journal of Mental Retardation, 98, 567–579.PubMed

Le Couteur, A., Bailey, A., Goode, S., Pickles, A., Robertson, S., Gottesman, I., & Rutter M. (1996). A broader phenotype of autism: The clinical spectrum of twins. Journal of Child Psychology and Psychiatry, 37, 785–802.PubMedCrossRef

Loesch, D. Z., Bui, Q. M., Dissanayake, C., Clifford, S., Gould, E., Bulhak-Paterson, Tassone, F., Taylor, A. K., Hessl, D., Hagerman, R., Hagerman, P., & Huggins, R. M. (submitted Sept. 2005). Autism spectrum behaviours fragile X: Gold standard assessment, and phenotypic and genetic predictors. Journal of Developmental and Behavioural Paediatrics.

Loesch, D. Z., & Hay, D. A. (1988). Clinical features and reproductive patterns in fragile X female heterozygotes. Journal of Medical Genetics, 25, 407–414.PubMedCrossRef

Loesch, D. Z., Huggins, R., Bui, Q. M., Epstein, J., Taylor, A., Hagerman, R. J. (2002). Effect of the deficits of fragile X mental retardation protein on cognitive status of fragile males and females assessed by robust pedigree analysis. Journal of Developmental and Behavioural Paediatrics, 23, 416–423.

Loesch, D. Z., Sheffield, L. J., & Hay, D. A. (1993). Between-generation differences in ascertainment and penetrance: Relevance to genetic hypotheses in fragile X. Human Genetics, 91, 469–474.PubMedCrossRef

Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.PubMedCrossRef

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

Mazzocco, M. M., Kates, W. R., Baumgardner, T. L., Freund, L. S., & Reiss, A. L. (1997). Autistic behaviour among girls with fragile X syndrome. Journal of Autism and Developmental Disorders, 27, 415–435.PubMedCrossRef

Merenstein, S. A., Sobesky, W. E., Taylor, A. K., Riddle, J. E., Tran, H. X., & Hagerman, R. J. (1996). Molecular-clinical correlations in males with an expanded FMR1 mutation. American Journal of Medical Genetics, 64, 388–394.PubMedCrossRef

Miller, L. J., McIntosh, D. N., McGrath, J., Shyu, V., Lampe, M., Taylor, A. K., Tassone, F., Neitzel, K., Stackhouse, T., & Hagerman, R. J. (1999). Electrodermal responses to sensory stimuli in individuals with Fragile X Syndrome: A preliminary report. American Journal of Medical Genetics, 83, 268–279.PubMedCrossRef

Muhle, R., Trentacoste, S. V., & Rapin, I. (2004). The genetics of autism. Pediatrics, 113, 472–486.CrossRef

Pieretti, M., Zhang, F., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817–822.PubMedCrossRef

Proops, R., & Webb, T. (1981). The ‘fragile’ X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. Journal of Medical Genetics, 18, 366–373.PubMed

Reiss, A. L., & Freund, L. (1990). Fragile X syndrome, DSM-III-R, and autism. Journal of the American Academy of Child and Adolescent Psychiatry, 29, 885–891.PubMedCrossRef

Rutter, M., Bailey, A., Berument, S. K., Le Couteur, A., Lord, C., & Pickles, A. (2001; Prepublication). Social communication questionnaire: lifetime version. Los Angeles, CA: Western Psychological Services.

Rogers, S. J., Wehner, E., & Hagerman, R. J. (2001). The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental and Behavioural Paediatrics, 22, 409–417.

Schopler, E., Reichler, R. J., & Renner, B. R (1988). The Childhood Autism Rating Scale. Los Angeles, CA: Western Psychological Services.

Sparrow, S. S., Balla, D. A., & Cicchetti, D. (1984). Vineland adaptive behavior scales. Circle Pines, MN: American Guidance Service.

Taylor, A. K., Safanda, J. F., Fall, M. Z., Quince, C., Lang, K. A., Hull, C. E., Carpenter, I., Staley, L. W., Hagerman, R. J. (1994). Molecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA, 271, 507–514.PubMedCrossRef

Thompson, E. A. (1993). Sampling and ascertainment in genetic epidemiology. A tutorial review. (Unpublished Manuscript) Department of Statistics. University of Washington.

Turner, G., Daniel, A., & Frost, M. (1980). X-linked mental retardation, macro-orchidism and the Xq27 fragile site. Journal of Pediatrics, 96, 837–841.PubMedCrossRef

Turk, J., & Graham, P. (1997). Fragile X syndrome, autism, and autistic features. Autism, 1, 175–197.CrossRef

Wechsler, D. (1991). Wechsler intelligence scale for children (3rd ed.,) San Antonio: The Psychological Corporation.

Wechsler, D. (1997). Wechsler adult intelligence scale. (3rd ed.,) San Antonio: The Psychological Corporation.

Wechsler, D. (2002). Wechsler preschool and primary scale of intelligence (3rd ed.) San Antonio: The Psychological Corporation.

Weiler, I. J., & Greenough, W. T. (1999). Synaptic synthesis of the Fragile X protein: Possible involvement in synapse maturation and elimination. American Journal of Medical Genetics, 83, 248–252.PubMedCrossRef

Titel: Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation
Auteurs: Sally Clifford
Cheryl Dissanayake
Quang M. Bui
Richard Huggins
Annette K. Taylor
Danuta Z. Loesch
Publicatiedatum: 01-04-2007
Uitgeverij: Kluwer Academic Publishers-Plenum Publishers
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 4/2007
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-006-0205-z

Andere artikelen Uitgave 4/2007

Do Children with Autism have a Theory of Mind? A Non-verbal Test of Autism vs. Specific Language Impairment

Original Paper

Brief Report: Error Pattern in an Autistic Savant Calendar Calculator

Brief Communication

Brief Report: Social and Communication Abilities and Disabilities in Higher Functioning Individuals with Autism and Asperger Syndrome

Brief Communication

Using Video Modeling to Teach Complex Social Sequences to Children with Autism

Original Paper

DTkid: Interactive Simulation Software for Training Tutors of Children with Autism

Original Paper

The Social Communication Assessment for Toddlers with Autism (SCATA): An Instrument to Measure the Frequency, Form and Function of Communication in Toddlers with Autism Spectrum Disorder

ORIGINAL PAPER