Skip to main content
main-content
Top

Tip

Swipe om te navigeren naar een ander artikel

Gepubliceerd in: Journal of Autism and Developmental Disorders 10/2012

01-10-2012 | Brief Report

Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome

Auteurs: Luigi Mazzone, Lia Vassena, Liliana Ruta, Diego Mugno, Ornella Galesi, Marco Fichera

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 10/2012

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

Abstract

Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 → qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability. This report supports the hypothesis that genes in the 2q37 region may contribute to the etiology of autism, leading, however, to a peculiar evolution of the disease, with symptoms severity decreasing over time.
Literatuur
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference Burd, L., Martsolf, J. T., Kerbeshian, J., & Jalal, S. M. (1988). Partial 6p trisomy associated with infantile autism. Clinical Genetics, 33(5), 356–359. PubMedCrossRef Burd, L., Martsolf, J. T., Kerbeshian, J., & Jalal, S. M. (1988). Partial 6p trisomy associated with infantile autism. Clinical Genetics, 33(5), 356–359. PubMedCrossRef
go back to reference 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, 130A(4), 331–339. PubMedCrossRef 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, 130A(4), 331–339. PubMedCrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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, 149A(5), 952–959. CrossRef 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, 149A(5), 952–959. CrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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. CrossRef 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. CrossRef
go back to reference Ghaziuddin, M., & Burmeister, M. (1999). Deletion of chromosome 2q37 and autism: A distinct subtype? Journal of Autism and Developmental Disorders, 29(3), 259–263. PubMedCrossRef Ghaziuddin, M., & Burmeister, M. (1999). Deletion of chromosome 2q37 and autism: A distinct subtype? Journal of Autism and Developmental Disorders, 29(3), 259–263. PubMedCrossRef
go back to reference 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. CrossRef 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. CrossRef
go back to reference 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. PubMed 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. PubMed
go back to reference Lord, C., Cook, E. H., Leventhal, B. L., & Amaral, D. G. (2000a). Autism spectrum disorders. Neuron, 28(2), 355–363. PubMedCrossRef Lord, C., Cook, E. H., Leventhal, B. L., & Amaral, D. G. (2000a). Autism spectrum disorders. Neuron, 28(2), 355–363. PubMedCrossRef
go back to reference Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr., Leventhal, B. L., DiLavore, 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. PubMedCrossRef Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Jr., Leventhal, B. L., DiLavore, 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. PubMedCrossRef
go back to reference 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. 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(5), 659–685. PubMedCrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 6, 3. PubMedCrossRef Reddy, K. S. (2005). Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Medical Genetics, 6, 3. PubMedCrossRef
go back to reference Roid GH, M. L. (1997). Leiter international performance scale-revised edition. Wood Dale, IL: Stoelting Co. Roid GH, M. L. (1997). Leiter international performance scale-revised edition. Wood Dale, IL: Stoelting Co.
go back to reference Schopler, E., Reichler, R. J., DeVellis, 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. PubMedCrossRef Schopler, E., Reichler, R. J., DeVellis, 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. PubMedCrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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. PubMed 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. PubMed
go back to reference 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. 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.
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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. PubMedCrossRef 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. PubMedCrossRef
go back to reference 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. PubMed 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. PubMed
Metagegevens
Titel
Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome
Auteurs
Luigi Mazzone
Lia Vassena
Liliana Ruta
Diego Mugno
Ornella Galesi
Marco Fichera
Publicatiedatum
01-10-2012
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 10/2012
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-011-1432-5

Andere artikelen Uitgave 10/2012

Journal of Autism and Developmental Disorders 10/2012 Naar de uitgave