The neuropsychiatry and multisystem features of the Smith-Magenis Syndrome: A review
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.
SourceAvailable from: Peter B Marschik[Show abstract] [Hide abstract]
ABSTRACT: There is little systematic data on early neurodevelopmental functioning of infants with Smith-Magenis syndrome, since early diagnosis is rare. A boy with cytogenetically confirmed Smith-Magenis syndrome was videotaped at 4 months and 1 week of age. His posture and spontaneous movements were analysed without knowing the diagnosis. The motor repertoire appeared significantly reduced; fidgety general movements, which are typical of that age, were missing. Posture was abnormal and overall movements were jerky and monotonous. The findings indicate a severe motor impairment by no more than 4 months of age. It was concluded that an absence of fidgety movements that goes along with subtle dysmorphic features indicates an increased risk of maldevelopment and justifies the need to refer for genetic evaluation with the potential of facilitating earlier diagnosis.Developmental neurorehabilitation 06/2012; 15(4):313-6. DOI:10.3109/17518423.2011.654281 · 1.48 Impact Factor
[Show abstract] [Hide abstract]
ABSTRACT: This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults will not receive adequate health care and referrals to genetic specialists; cohort differences related to generational and treatment effects; and increased mortality and selective survival biases. Even so, aging in Prader-Willi and Williams syndromes are reviewed as they reveal new insights into the phenotypic expression and treatment options for older adults with these disorders. The review ends with recommendations for future research that takes better advantage of genetic advances, changes in adult phenotypes, and ties across syndrome-specific research silos. Although aging in rare neurodevelopmental disorders is barely on the research landscape, the field stands to learn much from these older adults. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;18:75-83.Developmental Disabilities Research Reviews 08/2013; 18(1):75-83. DOI:10.1002/ddrr.1130 · 0.29 Impact Factor