scholarly journals Sleep, Behavior, and Adaptive Function in KAT6A Syndrome

2021 ◽  
Vol 11 (8) ◽  
pp. 966
Author(s):  
Clay Smith ◽  
Jacqueline Harris

KAT6A syndrome is a Mendelian Disorder of the Epigenetic Machinery characterized by intellectual disability and profound expressive language impairment. This study aimed to further characterize behavior and sleep in this syndrome. 26 participants between the ages of 3 and 35 years with KAT6A syndrome were assessed via parental informant using the Adaptive Behavior Assessment System version 3 (ABAS-3), Achenbach Child or Adult Behavior Checklist (CBCL/ABCL), and a Modified Simonds and Parraga Sleep Questionnaire (MSPSQ). The ABAS reports conceptual, social, and practical domains of adaptive function as well as a general composite score for adaptive function. The CBCL/ABCL is an inventory that measures internalizing, externalizing, and DSM-oriented problem domains. The MSPSQ is a mix of qualitative and quantitative sleep information that includes behavioral and medical sleep problems. Mean values for all domains of the ABAS-3 were in the extremely low range. Additionally, sleep was very dysfunctional in this cohort. Sixty percent of respondents reported feeling there was a sleep problem, 64% take medication for sleep, and 68% have sought treatment or advice for sleep. Only 12% of these participants have sleep apnea suggesting that sleep problems in this disorder are unrelated to sleep-disordered breathing. Interestingly, there were extremely low rates of all types of behaviors reported among participants on the CBCL/ABCL. No significant differences were seen based on genotype grouping in adaptive function, sleep, or behavior. This study further delineates the phenotype of the KAT6A syndrome and emphasizes the need for supports for adaptive functioning as well as detailed attention to the behavioral aspects of sleep in this condition.

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 96
Author(s):  
Martina Siracusano ◽  
Eugenia Segatori ◽  
Assia Riccioni ◽  
Leonardo Emberti Gialloreti ◽  
Paolo Curatolo ◽  
...  

Children with autism spectrum disorder (ASD) and their families have represented a fragile population on which the extreme circumstances of the COVID-19 outbreak may have doubly impaired. Interruption of therapeutical interventions delivered in-person and routine disruption constituted some of the main challenges they had to face. This study investigated the impact of the COVID-19 lockdown on adaptive functioning, behavioral problems, and repetitive behaviors of children with ASD. In a sample of 85 Italian ASD children (mean age 7 years old; 68 males, 17 females), through a comparison with a baseline evaluation performed during the months preceding COVID-19, we evaluated whether after the compulsory home confinement any improvement or worsening was reported by parents of ASD individuals using standardized instruments (Adaptive Behavior Assessment System (Second Edition), Achenbach Child Behavior Checklist, Repetitive Behavior Scale-Revised). No significant worsening in the adaptive functioning, problematic, and repetitive behaviors emerged after the compulsory home confinement. Within the schooler children, clinical stability was found in reference to both adaptive skills and behavioral aspects, whereas within preschoolers, a significant improvement in adaptive skills emerged and was related to the subsistence of web-delivered intervention, parental work continuance, and online support during the lockdown.


2016 ◽  
Vol 8 (1) ◽  
pp. 83-92 ◽  
Author(s):  
Emre Selcuk ◽  
Sarah C. E. Stanton ◽  
Richard B. Slatcher ◽  
Anthony D. Ong

The present study investigated whether perceived partner responsiveness—the extent to which individuals feel cared for, understood, and validated by their partner—predicted subjective sleep problems and objective (actigraph-based) sleep efficiency through lower anxiety and depression symptoms. A life span sample of 698 married or cohabiting adults (35–86 years old) completed measures of perceived partner responsiveness and subjective sleep problems. A subset of the sample ( N = 219) completed a weeklong sleep study where actigraph-based measures of sleep efficiency were obtained. Perceived partner responsiveness predicted lower self-reported global sleep problems through lower anxiety and depression and greater actigraph-assessed sleep efficiency through lower anxiety. All indirect associations held after controlling for emotional support provision to the partner, agreeableness, and demographic and health covariates known to affect sleep quality. These findings are among the first to demonstrate how perceived partner responsiveness, a core aspect of romantic relationships, is linked to sleep behavior.


2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Ya-Ting Yang ◽  
Katherine A Kaplan ◽  
Jamie M Zeitzer

Abstract Study Objectives Inadequate sleep is pervasive among teens worldwide, resulting in daytime sleepiness and, in some cases, depressive symptoms. In addition to their own behavioral choices, parent perceptions may also play a role in adolescent sleep. This study conducted a preliminary evaluation of the antecedents and consequences of sleep factors among adolescents in the United States and Taiwan. Methods Participants were adolescents with self-reported sleep concerns from academically similar schools in Taiwan (n = 548) and northern California, United States (n = 128). Questionnaires on sleep and mood were administered to both the teens and parents. Results While Taiwanese students’ self-reported sleep behavior was generally better than U.S. students (p < .01), Taiwanese students had higher overall self-reported sleepiness (p < .01). Furthermore, Taiwanese parents reported teen sleep durations of 6.53 ± .827 hours per night during the week (with 45% perceiving this as sufficient), while U.S. parents reported teen sleep durations of 7.22 ± .930 hours (with 27% perceiving this as sufficient). Adolescents in both cohorts had high levels of symptoms consistent with depression (Taiwan: 70%, United States: 62%), which was associated with shorter sleep times for both cohorts and evening chronotype in the Taiwanese, but not U.S., adolescents. Conclusions Some differences exist between Taiwanese and U.S. adolescents, with generally better sleep and less sleepiness reported among students in the United States, and Taiwanese students’ sleep influenced more strongly by chronotype. Furthermore, Taiwanese parents reported less concern about their child’s insufficient sleep, despite the fact that inadequate sleep is strongly associated with depressive symptoms for both cohorts.


2019 ◽  
Vol 27 (3) ◽  
pp. 197-219 ◽  
Author(s):  
Sibel Atlı ◽  
Selim Gunuc ◽  
Daria Kuss ◽  
Gülen Baran

The aim of this study is to investigate the relationship between adaptive behaviors of 18- to 24-month-old infants and their parents’ use of technology. For this purpose, a survey research method was used. The sample consisted of 116 people who are 58 volunteering married couples with 18- to 24-month-old infants and were registered in family health centers in Turkey’s Eastern Anatolia Region. Comparison analyses were conducted between parents’ demographic variables (i.e., education background) and their use of technology (i.e., Internet, smartphone) and adaptive behaviors of their 18- to 24-month-old infants. Adaptive behaviors of infants were measured with ABAS-3 (Adaptive Behavior Assessment System, Third Edition) and the profiles of parents using technology were measured with a survey developed by the researchers. The results showed that parents’ use of technology had an impact on adaptive behaviors of 18- to 24-month-old infants. Infants of mothers who did not engage in any Internet activity have higher adaptive behavior scores. The infants of mothers who engaged in activities such as games, videos, and music on the Internet together with their 18- to 24-month-old infants had low scores on adaptive behaviors in terms of concept, self-management, leisure, and communication. According to the findings, various suggestions are presented for parents, researchers, and practitioners.


2020 ◽  
Vol 18 (4) ◽  
pp. 468-472
Author(s):  
Celia Ibáñez del Prado ◽  
Juan Antonio Cruzado

AbstractObjectiveTo evaluate sleep disturbances and to verify the accuracy of three screening tests to detect them in patients at the end-of-life admitted in a hospital palliative care unit.MethodThe level of sleep disturbances was evaluated through the Pittsburgh Sleep Quality Index (PSQI) in 150 palliative patients. This questionnaire was the criterion variable for testing the three screening tests used: Edmonton Symptom Assessment System (ESAS-Sleep subscale); the single question “How much do you worry about your sleep problems?” which is answered on a scale of 0–10 (Sleep-Worry-Q) and another single question: “Do you think you have sleep problems?” with two response categories, Yes/No (Sleep-Problem-Q).ResultsAccording to the PSQI (cut-off point: 8), 87% of patients presented sleep disturbances. The ESAS-Sleep (cut-off point: 3) showed a sensitivity of 0.87, a specificity of 0.58, and an AUC of 0.729; the Sleep-Worry-Q (cut-off point: 4) showed a sensitivity of 0.95, a specificity of 0.68, and an AUC of 0.854; the Sleep-Problem-Q obtained a sensitivity of 0.92 and a specificity of 0.65.Significance of resultsPatients at the end-of-life, near the time of death, have high levels of sleep disturbances that can be detected early, with better diagnostic accuracy, with the Sleep-Worry-Q. Although from a clinical point of view, the application of the Sleep-Problem-Q may be more advantageous, as it presents good diagnostic accuracy, greater simplicity, and brevity.


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