Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome

HIV and AIDS Malignancy Branch, National Cancer Institute, Bethesda, MD 20892-8200, USA.
Journal of Autism and Developmental Disorders (Impact Factor: 3.34). 06/2006; 36(4):541-52. DOI: 10.1007/s10803-006-0093-2
Source: PubMed


Children with Smith-Magenis Syndrome (SMS) exhibit deficits in adaptive behavior but systematic studies using objective measures are lacking. This descriptive study assessed adaptive functioning in 19 children with SMS using the Vineland Adaptive Behavior Scales (VABS). Maladaptive behavior was examined through parent questionnaires and the Childhood Autism Rating Scale. Cognitive functioning was evaluated with an age-appropriate test. Children scored below average on VABS Communication, Daily Living Skills, and Socialization scales. Learning problems and hyperactivity scales on the Conner's Parent Rating Scale were elevated, and girls were more impulsive than boys. Stereotypic and self-injurious behaviors were present in all children. Cognitive functioning was delayed and consistent with communication and daily living skills, while socialization scores were higher than IQ.

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    • "Interesting, it was found that VIQ significantly decreased with age; however, this may was attributed to variable educational opportunities across such a broad age range ascertained, especially in the older males who may have been diagnosed later and had more limited educational interventions. Cognitive abilities did not predict adaptive functioning , as has been seen in other chromosome based disorders [Martin et al., 2006]. Neurobehavioral co-morbidities included ADHD and ASD, for which many of the subjects were receiving medication. "
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    ABSTRACT: X and Y chromosomal variations including tetrasomy and pentasomy conditions are rare and occur in 1:18,000-1:100,000 male births. The most common sex chromosome aneuploidy is 47, XXY for which there is a rich literature delineating the physical and neurobehavioral phenotype. Although the more complex chromosome aneuploidies 48, XXYY, 48, XXXY, and 49, XXXXY are often compared with 47, XXY (Klinefelter syndrome) because of shared features including tall stature and hypergonadotropic hypogonadism, there is a wider spectrum of physical and cognitive abilities that have recently been delineated. The phenotypic presentation of the boys with more severe aneuploidy shares some characteristics with 47, XXY, but there are also other unique and distinctive features. Previously unappreciated intact nonverbal skills have been demonstrated in association with severe developmental dyspraxia. MRI findings of white matter hyperintensities may underlie cognitive deficits and deserve further study. This report discusses what is known about clinical variability in the XY syndromes collectively evaluated through careful multidisciplinary clinical evaluation including the clinical and neurobehavioral aspects of these conditions. Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or epigenetic factors that warrant further investigation. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part C Seminars in Medical Genetics 02/2013; 163(1). DOI:10.1002/ajmg.c.31352 · 3.91 Impact Factor
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    • "Specifically, the proportion of females was higher across all medication groups. This is consistent with other reports, suggesting that females have greater impairment in social communication and repetitive behaviors [Laje et al., 2010] as well as inattention, impulsivity and hyperactivity [Martin et al., 2006]; authors unpublished data] in SMS. "
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    ABSTRACT: Smith-Magenis syndrome (SMS) is a complex genetic syndrome caused by an interstitial deletion of chromosome 17p11.2. Children and adults with SMS appear to have unique neurobehavioral problems that include: sleep disturbance, self-injurious and maladaptive behaviors, stereotypies, and sensory integration disorders. We gathered retrospective psychotropic use information from parents or other caregivers of 62 individuals with SMS who were asked about use of psychotropic medication from a list of commonly used psychiatric medications. For those drugs identified, respondents were asked to rate the experience with the particular medication using a likert-type scale. Drugs were grouped into seven main categories: (1) stimulants; (2) antidepressants; (3) antipsychotics; (4) sleep aides; (5) mood stabilizers; (6) alpha 2 agonists; and (7) benzodiazepines. Relative frequencies, means and standard deviations pertaining to age and medication effect were derived for each medication category. Six of the seven medication categories examined showed no meaningful deviations from the "no change" score. The benzodiazepine group showed a mild detrimental effect. There were no gender differences in efficacy. Use of psychotropic medication started early in life (mean age 5 years), particularly with sleep aides. Although no medication category was identified as efficacious in SMS, all the categories reported herein may be considered as an option for brief symptomatic relief.
    American Journal of Medical Genetics Part C Seminars in Medical Genetics 11/2010; 154C(4):463-8. DOI:10.1002/ajmg.c.30282 · 3.91 Impact Factor
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    • "It also can be seen in children with developmental delay or sensory deprivation[7] syndromes such as Smith-Magenis Syndrome[14] and Cri-du-Chat syndrome[15]. The number and diversity of stereotypies in autism is more than in typically developing children[6]. "
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    ABSTRACT: This is an overview of stereotypic behavior in autistic spectrum disorder (ASD). This repetitive, nonfunctional, fixed pattern of behavior is associated with autism severity but it is not specific for ASD. There are a wide range of behaviors mentioned as stereotypies. It usually starts in early childhood and its severity is associated with outcomes and severity of autism in adolescence and adulthood. It is usually co-morbid with other psychiatric problems and its pathophysiology is not exactly known. Management is most likely behavioral. There are some reports regarding efficacy of antipsychotics for its management. Further studies should be conducted to improve our knowledge about it and our ability to differentiate it from tics.
    Iranian Journal of Pediatrics 06/2010; 20(2):149-59. · 0.52 Impact Factor
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