Review
doi: 10.1176/jnp.17.1.91.
The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review
Affiliations
- PMID: 15746488
- DOI: 10.1176/jnp.17.1.91
Item in Clipboard
Review
The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review
J Neuropsychiatry Clin Neurosci.
2005 Winter.
Abstract
Smith-Magenis Syndrome (SMS) is a complex, pediatric, neurobehavioral, contiguous gene syndrome ascribed to interstitial microdeletion of chromosome 17, band 11.2. The syndrome is characterized by distinctive behavioral, neurocognitive, and neuropsychiatric abnormalities. This genetically mediated disorder of mental retardation prompts behavioral researchers to examine the links between genes, brain, and behavior in order to solve the gene-behavior puzzle and the genotype/phenotype correlation. In this article, the authors review literature on behavioral profile and its associated psychopathologies, cognitive profiles, multisystem abnormalities, and genetic correlates that highlight the complexities of the disorder.
Similar articles
-
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).Pediatr Neurol. 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. Pediatr Neurol. 2006. PMID: 16647992 Review.
-
Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.J Dev Behav Pediatr. 2006 Jun;27(3):188-92. doi: 10.1097/00004703-200606000-00002. J Dev Behav Pediatr. 2006. PMID: 16775514
-
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).Am J Med Genet. 1998 Mar 28;81(2):179-85. doi: 10.1002/(sici)1096-8628(19980328)81:2<179::aid-ajmg10>3.0.co;2-e. Am J Med Genet. 1998. PMID: 9613859 Review.
-
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.Am J Med Genet A. 2005 Jan 30;132A(3):278-82. doi: 10.1002/ajmg.a.30461. Am J Med Genet A. 2005. PMID: 15690371
-
[Speech impairment and the Smith-Magenis syndrome].HNO. 2007 Aug;55(8):644-6. doi: 10.1007/s00106-006-1430-7. HNO. 2007. PMID: 16767429 German.
Cited by
-
A novel RING finger protein, Znf179, modulates cell cycle exit and neuronal differentiation of P19 embryonal carcinoma cells.Cell Death Differ. 2011 Nov;18(11):1791-804. doi: 10.1038/cdd.2011.52. Epub 2011 May 13. Cell Death Differ. 2011. PMID: 21566658 Free PMC article.
-
Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.Pediatr Neurol. 2009 Oct;41(4):250-8. doi: 10.1016/j.pediatrneurol.2009.04.015. Pediatr Neurol. 2009. PMID: 19748044 Free PMC article.
-
Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.Orphanet J Rare Dis. 2021 Sep 8;16(1):380. doi: 10.1186/s13023-021-02003-z. Orphanet J Rare Dis. 2021. PMID: 34496899 Free PMC article.
-
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 Free PMC article.
-
Structural and functional characterization of the brain-specific dynamin superfamily member RNF112.Proc Natl Acad Sci U S A. 2025 Apr 15;122(15):e2419449122. doi: 10.1073/pnas.2419449122. Epub 2025 Apr 8. Proc Natl Acad Sci U S A. 2025. PMID: 40198702 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
