Sleep Problems in Children with ASD and Gene Disrupting Mutations

Earl, Rachel K.; Ward, Tracey; Gerdts, Jennifer; Eichler, Evan E.; Bernier, Raphael; Hudac, Caitlin M.

doi:10.1080/00221325.2021.1922869

Cited by 8 publications

(2 citation statements)

References 76 publications

(106 reference statements)

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“…For example, several items within the Depressive Problems subscale of the CBCL address sleep concerns, including tiredness, lack of energy, and sleeping too little or too much [ 1 ]. While this corresponds well with DSM-5 diagnostic criteria for depression (e.g., presence of fatigue, sleep disturbance) [ 2 ], these items also overlap with documented physiological features of DYRK1A syndrome [ 14 ]. As a result, primary sleep disturbances may inflate estimates of depressive features, and it will be important to understand the extent to which core depressive symptoms of lowered mood and anhedonia might be affected in DYRK1A moving forward.…”

Section: Discussionsupporting

confidence: 61%

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Neuhaus,

Rea,

Jones

et al. 2024

J Neurodevelop Disord

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Background Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD – ADNP, CHD8, and DYRK1A – with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. Methods Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. Results Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. Conclusions Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life.

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Section: Discussionsupporting

confidence: 61%

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Neuhaus,

Rea,

Jones

et al. 2024

J Neurodevelop Disord

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“…All of this could be because the MVPA activates the PGC-1α-Errα transcription complex, which stimulates the generation of the FNDC5 gene in the hypothalamus, and, in turn, the FNDC5 gene stimulates the BDNF gene, the master regulator of cell survival, differentiation, and plasticity in the brain, which improves executive functions [24]. Secondly, exercise and its effect on relaxation decrease cortisol levels, promoting a reduction in anxiety and stress [22], improving the quality of sleep and mood, and favoring the improvement of the general and stereotypic behaviors of youth with ASD [22,56]. Finally, land-based PA intervention [57] and aquatic programs [49] improve motor and behavior skills in youth with ASD because of improvements in hypotonia and looseness of muscles, strength, balance, and agility skills [48].…”

Section: Discussionmentioning

confidence: 99%

Effects of Physical Activity on Cognition, Behavior, and Motor Skills in Youth with Autism Spectrum Disorder: A Systematic Review of Intervention Studies

Suárez-Manzano,

Ruiz-Ariza,

de Loureiro

et al. 2024

Behavioral Sciences

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The aim of this paper was to analyze the acute and chronic effects of physical activity (PA) on cognition, behavior, and motor skill in youth with autism spectrum disorder (ASD), taking into account potential confounders. In addition, it was intended to elaborate a guide of educational applications with strategies for PA use. Studies were identified in four databases from January 2010 to June 2023. A total of 19 interventional studies met the inclusion criteria. PA programs ranged from two weeks to one year in duration, with a frequency of one to five sessions per week. More than 58% of the studies showed positive effects of PA on cognition, and 45.5% on behavior and motor skill. Moderate–vigorous PA for 15–30 min has shown acute effects on cognition, general behavior, and stereotypic/repetitive behaviors in youth with ASD. A total of 9 out of 14 studies showed chronic effects on general behavior and stereotypic behaviors, and only 6 on motor skills.

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Medical Care and Common Medical Comorbidities in ASD

Zillo,

Volkmar

2024

Adolescents and Adults With Autism Spectrum Disorders

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Sleep Problems in Children with ASD and Gene Disrupting Mutations

Cited by 8 publications

References 76 publications

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Effects of Physical Activity on Cognition, Behavior, and Motor Skills in Youth with Autism Spectrum Disorder: A Systematic Review of Intervention Studies

Medical Care and Common Medical Comorbidities in ASD

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