Brief report: Peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome

Journal of Autism and Developmental Disorders

Volumn 42, Issue 10, 2012, Pages 2202-2207

  Mazzone, Luigi ^a,b   Vassena, Lia ^c   Ruta, Liliana ^a   Mugno, Diego ^a   Galesi, Ornella ^d   Fichera, Marco ^d  

^a UNIVERSITY OF CATANIA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

2q37 region; Autism; BDMR; Evolutionary course

Indexed keywords

ARTICLE; AUTISM; BEHAVIOR DISORDER; BRACHYDACTYLY; CHROMOSOME 2Q; CLINICAL ASSESSMENT; CLINICAL FEATURE; COGNITIVE DEFECT; CYTOGENETICS; DISEASE ASSOCIATION; FOLLOW UP; GENE DELETION; GENETIC ASSOCIATION; HUMAN; MENTAL DEFICIENCY; PATHOGENESIS; PHYSICAL ACTIVITY; PRIORITY JOURNAL;

AUTISTIC DISORDER; BRACHYDACTYLY; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; HUMANS; INTELLECTUAL DISABILITY; MALE;

EID: 84866739916     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-011-1432-5     Document Type: Article

References (26)

1. Aldred, M. A., Sanford, R. O., Thomas, N. S., Barrow, M. A., Wilson, L. C., Brueton, L. A., et al. (2004). Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. Journal of Medical Genetics, 41(6), 433-439.
2. Burd, L., Martsolf, J. T., Kerbeshian, J., & Jalal, S. M. (1988). Partial 6p trisomy associated with infantile autism. Clinical Genetics, 33(5), 356-359.
3. Casas, K. A., Mononen, T. K., Mikail, C. N., Hassed, S. J., Li, S., Mulvihill, J. J., et al. (2004). Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. American Journal of Medical Genetics Part A, 130 A (4), 331-339.
4. Conrad, B., Dewald, G., Christensen, E., Lopez, M., Higgins, J., & Pierpont, M. E. (1995). Clinical phenotype associated with terminal 2q37 deletion. Clinical Genetics, 48(3), 134-139.
5. Dawson, G., Rogers, S., Munson, J., Smith, M., Winter, J., Greenson, J., et al. (2010). Randomized, controlled trial of an intervention for toddlers with autism: The Early Start Denver Model. Pediatrics, 125(1), e17-e23. doi:10.1542/peds.2009-0958.
6. Falk, R. E., & Casas, K. A. (2007). Chromosome 2q37 deletion: Clinical and molecular aspects. American Journal of Medical Genetics Part C, Seminars in Medical Genetics, 145C (4), 357-371.
7. Felder, B., Radlwimmer, B., Benner, A., Mincheva, A., Todt, G., Beyer, K. S., et al. (2009). FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. American Journal of Medical Genetics Part C, Seminars in Medical Genetics, 149 A (5), 952-959.
8. Fisher, A. M., Ellis, K. H., Browne, C. E., Barber, J. C., Barker, M., Kennedy, C. R., et al. (1994). Small terminal deletions of the long arm of chromosome 2: Two new cases. American Journal of Medical Genetics, 53(4), 366-369.
9. Friedman, B. D., Gorski, J., Hall, B. D., Brothman, A., Carey, J. C., & Flejter, W. L. (1997). Deletion of chromosomal region 2q37: Clinical phenotype in eight cases. American Journal of Human Genetics, 61, A98.
10. Ghaziuddin, M., & Burmeister, M. (1999). Deletion of chromosome 2q37 and autism: A distinct subtype? Journal of Autism and Developmental Disorders, 29(3), 259-263.
11. Gordon, K., Pasco, G., McElduff, F., Wade, A., Howlin, P., & Charman, T. (2011). A communication-based intervention for nonverbal children with autism: What changes? Who benefits? Journal of Consulting Psychology, 79(4), 447-457. doi:10.1037/a0024379.
12. Howlin, P., Magiati, I., & Charman, T. (2009). Systematic review of early intensive behavioral interventions for children with autism. American Journal on Intellectual and Developmental Disabilities, 114(1), 23-41. doi:10.1352/2009.114:23;nd41.
13. Lord, C., Cook, E. H., Leventhal, B. L., & Amaral, D. G. (2000a). Autism spectrum disorders. Neuron, 28(2), 355-363.
14. Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr., Leventhal, B. L., Di Lavore, P. C., et al. (2000b). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205-223.
15. 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(5), 659-685.
16. Lovaas, O. I. (1987). Behavioral treatment and normal educational and intellectual functioning in young autistic children. Journal of Consulting and Clinical Psychology, 55(1), 3-9.
17. Phelan, M. C., Rogers, R. C., Clarkson, K. B., Bowyer, F. P., Levine, M. A., Estabrooks, L. L., et al. (1995). Albright hereditary osteodystrophy and del (2) (q37.3) in four unrelated individuals. American Journal of Medical Genetics, 58(1), 1-7.
18. Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 6, 3.
19. Roid GH, M. L. (1997). Leiter international performance scalerevised edition. Wood Dale, IL: Stoelting Co.
20. Schopler, E., Reichler, R. J., De Vellis, R. F., & Daly, K. (1980). Toward objective classification of childhood autism: Childhood autism rating scale (CARS). Journal of Autism and Developmental Disorders, 10(1), 91-103.
21. Shrimpton, A. E., Braddock, B. R., Thomson, L. L., Stein, C. K., & Hoo, J. J. (2004). Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. Clinical Genetics, 66(6), 537-544.
22. Smith, M., Escamilla, J. R., Filipek, P., Bocian, M. E., Modahl, C., Flodman, P., et al. (2001). Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: Report of a case and of new markers for deletion screening by PCR. Cytogenetics and Cell Genetics, 94(1-2), 15-22.
23. Stein, C. K., Del Signore, C., Bellinger, M., & Bryke, C. R. (1992). Deletion of 2q37-a new syndrome? American Journal of Human Genetics, 51, A308.
24. Volkmar, F. R., Lord, C., Bailey, A., Schultz, R. T., & Klin, A. (2004). Autism and pervasive developmental disorders. Journal of Child Psychology and Psychiatry, 45(1), 135-170.
25. Williams, S. R., Aldred, M. A., der Kaloustian, V. M., Halal, F., Gowans, G., McLeod, D. R., et al. (2010). Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. American Journal of Human Genetics, 87(2), 219-228.
26. Wilson, L. C., Leverton, K., Oude Luttikhuis, M. E., Oley, C. A., Flint, J., Wolstenholme, J., et al. (1995). Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37. American Journal of Human Genetics, 56(2), 400-407.