Characterization of Sleep Disturbances in Children and Adolescents with Down Syndrome and Their Relation with Cognitive and Behavioral Features

Fucà, Elisa; Costanzo, Floriana; Celestini, Laura; Mandarino, Alessandra; Vicari, Stefano

doi:10.3390/ijerph18095001

Cited by 11 publications

(11 citation statements)

References 78 publications

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“…Additionally, poor sleep does not appear to predict more difficult behaviors in this population with the exception of sleep-disordered breathing. This is not the case for many other genetic syndromes [27,28]. This may be because the overall rates of problematic behavior in this population are notably low.…”

Section: Discussionmentioning

confidence: 80%

Sleep, Behavior, and Adaptive Function in KAT6A Syndrome

Smith

Harris

2021

Brain Sciences

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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.

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Section: Discussionmentioning

confidence: 80%

Sleep, Behavior, and Adaptive Function in KAT6A Syndrome

Smith

Harris

2021

Brain Sciences

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“…In spite of the crucial role of sleep in pediatric age, especially for population with DS, very few studies specifically investigated the distribution of sleep difficulties and their behavioral correlates in preschool-age children with DS. On the other hand, the studies that investigated sleep problems in preschoolers with DS included wide age ranges ( Levanon et al, 1999 ; Carter et al, 2009 ; Nisbet et al, 2014 ; Bassell et al, 2015 ; Anand et al, 2021 ; Chawla et al, 2021 ; Fucà et al, 2021 ; Kose et al, 2021 ). Moreover, studies focusing on preschoolers with DS were conducted on small sample sizes ( Edgin et al, 2015 ; Joyce and Dimitriou, 2017 ; D’Souza et al, 2020 ; Lukowski et al, 2020 ; Arias-Trejo et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

“…Differences in the rate of sleep problems could be due to different reasons, including the different nature of the sample. For instance, Yau et al (2019) investigated the prevalence of sleep patterns and ecology in 104 children with DS aged 6–36 months, whereas other studies included larger age ranges and did not analyze data from preschoolers separately (e.g., Carter et al, 2009 ; Rosen et al, 2011 ; Fucà et al, 2021 ). Differences between studies in the prevalence rates of sleep problems could be also due to methodological variances, related to the instruments used for the investigation of sleep difficulties in preschoolers with DS.…”

Section: Discussionmentioning

confidence: 99%

“…Beyond OSA, a number of other sleep difficulties have been reported in children with DS, such as delayed sleep onset, night-time awakenings, and early morning awakenings, affecting 52–69% of children with DS ( Carter et al, 2009 ; Rosen et al, 2011 ; Churchill et al, 2015 ). Sleep problems in children with DS have been associated with a range of behavioral problems, mainly externalizing symptoms ( Anand et al, 2021 ; Fucà et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

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Sleep and behavioral problems in preschool-age children with Down syndrome

et al. 2022

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Sleep is a major concern, especially in people with Down Syndrome (DS). Beyond Obstructive Sleep Apnea, a number of other sleep difficulties have been reported in children with DS, such as delayed sleep onset, night-time awakenings, and early morning awakenings. The detrimental effect of sleep difficulties seems to contribute to and exacerbate the cognitive and behavioral outcomes of DS. Although the screening for sleep disorders is recommended early in age in DS, only a few studies have evaluated the sleep profile in preschool-age children with DS. The aim of the current study was to assess the association between sleep disturbances and behavioral problems in a group of preschool-age children with DS, by means of a feasible and easy-to-administer parent-report questionnaires. Seventy-one preschool-age children with DS, ranging in age from 3 to 5.11 years, were included in this retrospective study. Sleep disturbances were evaluated by means of the Sleep Disturbance Scale for Children, while emotional and behavioral problems by means of the Child Behavior Checklist. Sleep breathing disorders were the most frequent sleep difficulties reported by parents. Moreover, children with clinical scores in total sleep problems exhibited elevation of psychopathological symptoms, namely Total problems, Affective problems, Anxiety problems, Pervasive Developmental Problems, and Attention Deficit/Hyperactivity Problems. The identification of the broader connection between sleep difficulties and emotional and behavioral problems in preschool-age children with DS leads to important considerations for intervention.

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“…They may also experience emotional and behavioral challenges [20][21][22][23], which greatly impact the quality of life of these patients and of the people who care for them. As dopamine (DA) is an important neurotransmitter for cognitive function regulation, it has been pointed out that DA signaling system disturbance causes the cognitive impairments observed in DS [24][25][26][27][28]. DA systems are subject to an accelerator/brake control of their activity [29], which is pivotal for finely shaping DA responses [29,30].…”

Section: Introductionmentioning

confidence: 99%

Down Syndrome in Brazil: Occurrence and Associated Factors

Laignier

Lopes-Júnior

Santana³

et al. 2021

IJERPH

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Background: Down syndrome is the most frequent genetic cause of intellectual disability, with an estimated birth prevalence of 14 per 10,000 live births. In Brazil, statistical data on the occurrence of babies born with Down syndrome remain unclear. We aimed to estimate the occurrence of Down syndrome between 2012 and 2018, and to observe its association with maternal, gestational, paternal characteristics, and newborn vitality. Methods: A retrospective study was carried out using secondary data included in the Certificate of Live Birth in a state located in the southeastern region of Brazil. Data analysis was performed in the software Stata 14.1. Pearson’s chi-square test for bivariate analysis, and logistic regression for multivariate analysis were performed, with a 95% confidence interval (CI) and a significance of 5%. Results: We observed that 157 cases of Down syndrome were reported among 386,571 live births, representing an incidence of 4 in 10,000 live births. Down syndrome was associated with maternal age ≥ 35 years, paternal age ≥ 30 years, the performance of six or more prenatal consultations, prematurity, and low birth weight (p < 0.05). Conclusions: Women aged 35 and over were more likely to have children born with Down syndrome. In addition, there is an association of Down syndrome with premature birth, low birth weight, and the number of prenatal consultations (≥6).

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Characterization of Sleep Disturbances in Children and Adolescents with Down Syndrome and Their Relation with Cognitive and Behavioral Features

Cited by 11 publications

References 78 publications

Sleep, Behavior, and Adaptive Function in KAT6A Syndrome

Sleep, Behavior, and Adaptive Function in KAT6A Syndrome

Sleep and behavioral problems in preschool-age children with Down syndrome

Down Syndrome in Brazil: Occurrence and Associated Factors

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