Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort

Budimirović, Dejan B.; Protić, Dragana; Delahunty, Carol; Andrews, Howard; Choo, Tse‐Hwei; Xu, Qing; Berry‐Kravis, Elizabeth; Kaufmann, Walter E.

doi:10.1002/ajmg.a.62601

Cited by 28 publications

(24 citation statements)

References 39 publications

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“…Overall, our results suggest sleep dysfunction is common among those with WSS, in line with recent cross-syndrome investigations involving rare genetic disorders including Smith-Magenis, Fragile X, Angelman, Prader-Willi, Cornelia de Lange, CHARGE, Williams, KAT6A, and Kabuki syndromes (Angriman et al, 2015;Kaufmann et al, 2017;Agar et al, 2021;Budimirovic et al, 2021;Smith and Harris, 2021;Veatch et al, 2021;Rapp et al, 2022). Within our sample, sleep apnea was reported at a relatively high rate (40.90%) compared to the recent study by Sheppard et al (2021) (24.7%).…”

Section: Discussionsupporting

confidence: 90%

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

Björnsson

Fahrner

et al. 2022

Front. Genet.

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Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder caused by mutation in KMT2A and characterized by neurodevelopmental delay. This study is the first prospective investigation to examine the sleep and behavioral phenotypes among those with WSS through parent-informant screening inventories. A total of 24 parents of children/adults with WSS (11F, Mean age = 12.71 years, SD = 8.17) completed the Strengths and Difficulties Questionnaire (SDQ) and 22 of these caregivers also completed the Modified Simonds and Parraga Sleep Questionnaire (MSPSQ). On average, the majority of those with WSS (83%) were rated to show borderline to clinical level of behavioral difficulties on the SDQ. Approximately 83% were rated in these ranges for hyperactivity, 63% for emotional problems, and 50% for conduct problems. When applying prior published clinical cut-off for risk of sleep disturbance among those with neurodevelopmental disorders, over 80% of our sample exceeded this limit on the MSPSQ. Largely, caregivers’ ratings suggested restless sleep, rigid bedtime rituals, sleep reluctance and breathing through the mouth in sleep were most consistent problems observed. Partial correlations between sleep and behavioral domains showed elevated emotional problems were associated with parasomnia characteristics after controlling for age. Daytime drowsiness and activity were associated with more hyperactivity. Those with more night waking problems and delayed sleep onset were rated to show more severe conduct problems. Overall, these findings suggest dysfunctional sleep behaviors, hyperactivity, and affective problems are part of the neurobehavioral phenotype of WSS. Routine clinical care for those affected by WSS should include close monitoring of sleep and overactive behaviors.

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Section: Discussionsupporting

confidence: 90%

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

Björnsson

Fahrner

et al. 2022

Front. Genet.

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“…Only those with adequate saliva collection were included in this study. Those receiving any kind of medical treatment and those with attention-deficit hyperactivity disorder and specific genetic syndromes, such as fragile X, were excluded from the study as these disorders can associate impaired sleep themselves ( 25 , 31 , 32 ). Children and adolescents with intellectual disabilities were included.…”

Section: Methodsmentioning

confidence: 99%

Melatonin Rhythm and Its Relation to Sleep and Circadian Parameters in Children and Adolescents With Autism Spectrum Disorder

et al. 2022

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IntroductionSleep problems are prevalent among individuals with autism spectrum disorder (ASD), and a role has been attributed to melatonin in this multifactorial comorbidity.MethodsA cross-sectional study was conducted on 41 autistic children and adolescents (9.9 ± 3.02) and 24 children and adolescents with a normal intellectual function (8.42 ± 2.43) were used as controls. Subjects were matched for sex, body mass index, and pubertal stage, and all were drug-naive. Circadian and sleep parameters were studied using an ambulatory circadian monitoring (ACM) device, and saliva samples were collected around the onset of sleep to determine dim light melatonin onset (DLMO).ResultsPrepubertal individuals with ASD presented later DLMO and an earlier decline in melatonin during adolescence. A relationship was found between melatonin and both sleep and circadian parameters. Participants and controls with later DLMOs were more likely to have delayed sleep onset times. In the ASD group, subjects with the later daytime midpoint of temperature had a later DLMO. Later melatonin peak time and DLMO time were related to lower general motor activity and lower stability of its rhythms.ConclusionThe melatonin secretion pattern was different in individuals with ASD, and it showed a relationship with sleep and circadian parameters. Alterations in DLMO have not been previously reported in ASD with the exception of more variable DLMO timing; however, high variability in the study design and sample characteristics prevents direct comparison. The ACM device enabled the measurement of circadian rhythm, a scarcely described parameter in autistic children. When studied in combination with other measures such as melatonin, ACM can offer further knowledge on sleep problems in ASD.

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“…Other comorbid conditions of FXS reported in our study are consistent with many studies, some being associated with other major findings. For example, Budimirovic et al ( 2022 ) focused on cooccurring conditions associated with the presence of sleep problems in patients with FXS. They found that sleep difficulties were associated with behavioral problems such as irritability or aggression, anxiety, and hyperactivity; all conditions reported in our data set.…”

Section: Discussionmentioning

confidence: 99%

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome

Albizua

Charen

Shubeck

et al. 2022

Molec Gen & Gen Med

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Background Fragile X syndrome is characterized by a myriad of physical features, behavioral features, and medical problems. Commonly found behavioral features are hyperactivity, anxiety, socialization difficulties, and ASD. There is also a higher incidence than in the general population of strabismus, otitis media, and mitral valve prolapse. In addition, one of the most common medical problems associated with FXS is an increased risk of seizures. A subset of individuals carrying the full mutation of the FMR1 gene and diagnosed with fragile X syndrome (FXS) are reported to experience seizures, mostly during the first 10 years of their life span. Methods As part of a larger project to identify genetic variants that modify the risk of seizures, we collected clinical information from 49 carriers with FXS who experienced seizures and 46 without seizures. We compared seizure type and comorbid conditions based on the source of data as well as family history of seizures. Results We found that the concordance of seizure types observed by parents and medical specialists varied by type of seizure. The most common comorbid condition among those with seizures was autism spectrum disorder (47% per medical records vs. 33% per parent report compared with 19% among those without seizures per parent report); the frequency of other comorbid conditions did not differ among groups. We found a slightly higher frequency of family members who experienced seizures among the seizure group compared with the nonseizure group. Conclusion This study confirms previously reported features of seizures in FXS, supports additional genetic factors, and highlights the importance of information sources, altogether contributing to a better understanding of seizures in FXS.

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Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort

Cited by 28 publications

References 39 publications

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

Melatonin Rhythm and Its Relation to Sleep and Circadian Parameters in Children and Adolescents With Autism Spectrum Disorder

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome

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