Figure 1 - uploaded by Sarah H Elsea
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Characteristic facies of Smith-Magenis syndrome. Note the broad, square-shaped facial appearance, brachycephaly, a prominent forehead, small eyes with upslanting palpebral fissures, hypertelorism, a broad nasal bridge, and mild truncal obesity (top). Synbrachydactyly of the right third and fourth digits; her left hand was surgically corrected (bottom).
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... a body mass index of 19. Exam revealed a broad, square- shaped facial appearance, brachycephaly, a prominent forehead, hypertelorism, small upslanting palpebral fissures, a broad bridged nose, and mild truncal obesity (Figure 1, top). She did not talk at all and was scribbling with her left hand. ...
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Citations
Background
Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder that includes obesity and food-seeking/satiety-related behaviors.
Aims
This study examined associations between food-related/hyperphagic behaviors, weight, and medication use in individuals with SMS.
Methods/Procedures
Caregivers of individuals with SMS in the Parents and Researchers Interested in SMS (PRISMS) Patient Registry completed a demographic/medication questionnaire, the Hyperphagia Questionnaire for Clinical Trials, and the Food Related Problems Questionnaire.
Outcomes/Results
Among 49 participants (Mage = 16.41 ± 12.73 years, range = 4–69 years, 55% girls/women), individuals with SMS with overweight/obesity (n = 22) had worse overall food-related problems including greater impaired satiety (p < 0.05), maladaptive eating behaviors (p < 0.05), inappropriate response (p < 0.01), and hyperphagia (p < 0.01) compared to individuals of normal/underweight (n = 27). Those taking anti-depressants/anxiolytics (n = 16) had greater maladaptive eating behaviors (p < 0.05), hyperphagic behaviors (p < 0.05), and hyperphagic severity (p < 0.05) than those not taking anti-depressants/anxiolytics (n = 33). Boys/men with SMS had greater maladaptive eating behaviors (p < 0.05), inappropriate response (p < 0.05), and hyperphagic drive (p < 0.01) than girls/women with SMS.
Conclusions/Implications
Maladaptive food-related behaviors were higher in individuals with SMS with overweight/obesity, taking anti-depressants/anxiolytics, or who were male. Medications in this population should be chosen with weight-related side effects in mind.
Smith-Magenis syndrome is a genetic disorder caused by a microdeletion involving the retinoic acid-induced 1 (RAI1) gene that maps on the short arm of chromosome 17p11.2 or a pathogenic mutation of RAI1. Smith-Magenis syndrome affects patients through numerous congenital anomalies, intellectual disabilities, behavioral challenges, and sleep disturbances. The sleep abnormalities associated with Smith-Magenis syndrome can include frequent nocturnal arousals, early morning awakenings, and sleep attacks during the day. The sleep problems associated with Smith-Magenis syndrome are attributed to haploinsufficiency of the RAI1 gene. One consequence of reduced function of RAI1, and characteristic of Smith-Magenis syndrome, is an inversion of melatonin secretion resulting in a diurnal rather than nocturnal pattern. Treatment of sleep problems in people with Smith-Magenis syndrome generally involves a combination of sleep hygiene techniques, supplemental melatonin, and/or other medications, such as melatonin receptor agonists, β1-adrenergic antagonists, and stimulant medications, to improve sleep outcomes. Improvement in sleep has been shown to improve behavioral outcomes, which in turn improves the quality of life for both patients and their caregivers.
Purpose of review:
To provide an update of the most recent studies on Smith-Magenis syndrome (SMS) with a focus on the unique pattern of behavioral and sleep disturbances associated with the condition.
Recent findings:
The recent literature on SMS has focused on the characteristic severe behavioral and sleep disturbances. A better understanding of the underlying pathophysiological mechanisms and common clinical course has helped further characterize SMS, while much is left to be discovered in regard to effective treatment/management.
Summary:
SMS is a difficult to manage genetic condition defined by pervasive and progressive behavioral and sleep disturbances with a unique pattern that can often be easily discerned from other neurodevelopmental disorders. Common behavioral features include maladaptive/self-injurious, aggressive, stereotypic, and the newly appreciated food seeking behaviors associated with SMS. In addition, there is a sleep disturbance defined by an altered circadian rhythm with frequent nighttime waking and daytime sleepiness, causing patients and families significant distress. Small studies have suggested some treatment/management approaches to the behavioral and sleep disturbances, however, much remains to be discovered.
Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The analysis of some extra and intragenic markers within or closely linked to CFTR gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of CF is highly heterogeneous in our population is explained in the present study. The goal of the study was to examine the IVS8 TGmTn genotypes in a Tunisian sample of patients with CF disease and normal controls, and to compare the results with the findings from the literature. Methods: We conducted a case–control study in a sample composed of 80 CF patients and 90 control subjects to investigate the possible effect of the polymorphism. The study of the IVS8 TGmTn polymorphism was performed using sequencing analysis. Results: Our data revealed an association between the IVS8 TGmTn polymorphism and CF risk. There was a significant difference in the poly-T; TG repeats allele or genotype frequencies between cases and controls. Also, statistical analysis shows no association between F508del mutation and T5 variant. Furthermore, new TG9 repeat was reported in CF patients. Conclusion: This study provides additional evidence that TGmTn poly tract has important role in the development of CF. Further investigation, which genetic and functional studies of polymorphisms in genetic diseases will become of major interest in the future.
