Sleep disturbances and behavior in Smith-Magenis syndrome

Garayzábal, Elena; Hidalgo, I.; Souza, Ana Luiza Decanini Miranda de; Silva, Nathani Cristina da; Giacheti, Célia Maria; Pinato, Luciana

doi:10.1016/j.ridd.2022.104286

Cited by 3 publications

(5 citation statements)

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“…Historic SMS literature tended to focus on externalizing behaviors, such as self-injurious and aggressive behavior, and on hyperactivity, attention problems, and stereotypic behavior [ 6 ]. In line with recent reports [ 7 , 12 ], this study also shows internalizing behaviors in SMS. We recommend that internalizing behavior should also be considered, especially in those with a pathogenic RAI1 variant.…”

Section: Implications and Future Directionssupporting

confidence: 93%

“…Remarkably, while externalizing behaviors are common in both genetic subtypes (based on this and previous studies) [ 7 , 12 ], the results of this study suggest that 17p11.2 deletions are associated with less internalizing problems, i.e., behavioral problems directed toward oneself such as withdrawal and depression, and somatic complaints, as compared to pathogenic RAI1 variants. Only one (7%) individual with a 17p11.2 deletion had clinical internalizing behavior scores in the clinical range, compared to >41 in previous studies [ 7 , 12 ]. Clinical externalizing behavior in individuals with a 17p11.2 deletion (50%) is lower compared to previous studies (82%) [ 7 , 12 ].…”

Section: Discussionsupporting

confidence: 69%

“…Only one (7%) individual with a 17p11.2 deletion had clinical internalizing behavior scores in the clinical range, compared to >41 in previous studies [ 7 , 12 ]. Clinical externalizing behavior in individuals with a 17p11.2 deletion (50%) is lower compared to previous studies (82%) [ 7 , 12 ]. Although we do not have an explanation for this discrepancy, it may suggest relative under-reporting of internalizing behaviors in individuals with a 17p11.2 deletion in our CBCL 6–18 data (in contrast to those of the CBCL 1.5–5), which may also have driven the differences between internalizing behavior problems in individuals with a 17p11.2 deletion compared to those with a pathogenic RAI1 variant.…”

Section: Discussionmentioning

confidence: 58%

“…Other genes may play a role in the variability and severity of the phenotype [5]. The syndrome is associated with several physical and other manifestations, including developmental delay, intellectual disability (ID), sleep disturbances, obesity, and behavioral Genes 2023, 14, 1514 2 of 11 problems, although the expression may differ from individual to individual [6,7]. Clinical phenotyping summaries on SMS can be found in GeneReviews ® [8].…”

Section: Introductionmentioning

confidence: 99%

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Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Linders

Eeghen

Zinkstok

et al. 2023

Genes

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Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and behavioral disturbances. To explore how genetic variants may affect intellectual functioning and behavior, we compared intellectual and behavioral phenotypes between individuals with a 17p11.2 deletion and pathogenic RAI1 variant. Method: We reviewed available clinical records from individuals (aged 0–45 years) with SMS, ascertained through a Dutch multidisciplinary SMS specialty clinic. Results: We included a total of 66 individuals (n = 47, 71.2% with a 17p11.2 deletion and n = 19, 28.8% with a pathogenic RAI1 variant) for whom data were available on intellectual functioning, severity of ID (n = 53), and behavioral problems assessed with the Child Behavior Checklist (CBCL, n = 39). Median full-scale IQ scores were lower (56.0 vs. 73.5, p = 0.001) and the proportion of individuals with more severe ID was higher (p = 0.01) in the 17p11.2 deletion group. Median total CBCL 6–18 scores (73.5 vs. 66.0, p = 0.02) and scores on the sub-scales somatic complaints (68.0 vs. 57.0, p = 0.001), withdrawn/depressed behavior (69.5 vs. 55.0, p = 0.02), and internalizing behavior (66.0 vs. 55.0, p = 0.002) were higher in the RAI1 group. Conclusion: The results of this study suggest that 17p11.2 deletions are associated with a lower level of intellectual functioning and less internalizing of problems compared to pathogenic RAI1 variants. The findings of this study may contribute to personalized-management strategies in individuals with SMS.

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Section: Implications and Future Directionssupporting

confidence: 93%

Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 58%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Linders

Eeghen

Zinkstok

et al. 2023

Genes

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“…It has been hypothesized that the lifelong sleep–wake disorders that many SMS patients experience also relate to many psychological and behavioral symptoms (Shelley & Robertson, 2005). This idea is strengthened by the observation of a positive correlation between severity of sleep–wake disorders and psychological and behavioral manifestations in children (Garayzábal et al, 2022). Additionally, De Leersnyder et al (2001) reported that behavioral problems in children with SMS were reduced upon treatment of the sleep–wake disorders (De Leersnyder et al, 2001).…”

Section: Discussionmentioning

confidence: 99%

Psychiatric and neurological manifestations in adults with Smith–Magenis syndrome: A scoping review

Korteling

Musch

Zinkstok

et al. 2023

American J of Med Genetics Pt B

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Smith–Magenis syndrome (SMS) is a neurodevelopmental disorder caused by a 17p11.2 deletion or a pathogenic variant of the RAI1 gene, which lies within the 17p11.2 region. Various psychiatric and neurological disorders have been reported in SMS, with most literature focusing on children and adolescents. To provide an overview of the current knowledge on this topic in adults with SMS, we performed a comprehensive scoping review of the relevant literature. Our findings suggest that many manifestations that are common in childhood persist into adulthood. Neuropsychiatric manifestations in adults with SMS include intellectual disability, autism spectrum‐ and attention deficit hyperactivity disorder‐related features, self‐injurious and physical aggressive behaviors, sleep–wake disorders, and seizures. Findings of this review may facilitate optimization of management strategies in adults with SMS, and may guide future studies exploring late‐onset psychiatric and neurological comorbidities in SMS.

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Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome

Elatrash,

Shi,

Wilson

et al. 2024

Genetics in Medicine Open

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Sleep disturbances and behavior in Smith-Magenis syndrome

Cited by 3 publications

References 45 publications

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

Psychiatric and neurological manifestations in adults with Smith–Magenis syndrome: A scoping review

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome

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