Dataset Information

Behaviorally-determined sleep phenotypes are robustly associated with adaptive functioning in individuals with low functioning autism.

ABSTRACT: Despite sleep disturbance being a common complaint in individuals with autism, specific sleep phenotypes and their relationship to adaptive functioning have yet to be identified. This study used cluster analysis to find distinct sleep patterns and relate them to independent measures of adaptive functioning in individuals with autism. Approximately 50,000 nights of care-giver sleep/wake logs were collected on school-days for 106 individuals with low functioning autism (87 boys, 14.77?±?3.11 years) for 0.5-6 years (2.2?±?1.5 years) from two residential schools. Using hierarchical cluster analysis, performed on summary statistics of each individual across their recording duration, two clusters of individuals with clearly distinguishable sleep phenotypes were found. The groups were summarized as 'unstable' sleepers (cluster 1, n?=?41) and 'stable' sleepers (cluster 2, n?=?65), with the former exhibiting reduced sleep duration, earlier sleep offset, and less stability in sleep timing. The sleep clusters displayed significant differences in properties that were not used for clustering, such as intellectual functioning, communication, and socialization, demonstrating that sleep phenotypes are associated with symptom severity in individuals with autism. This study provides foundational evidence for profiling and targeting sleep as a standard part of therapeutic intervention in individuals with autism.

SUBMITTER: Cohen S

PROVIDER: S-EPMC5660229 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Behaviorally-determined sleep phenotypes are robustly associated with adaptive functioning in individuals with low functioning autism.

Cohen Simonne S Fulcher Ben D BD Rajaratnam Shantha M W SMW Conduit Russell R Sullivan Jason P JP Hilaire Melissa A St MAS Phillips Andrew J AJ Loddenkemper Tobias T Kothare Sanjeev V SV McConnell Kelly K Ahearn William W Braga-Kenyon Paula P Shlesinger Andrew A Potter Jacqueline J Bird Frank F Cornish Kim M KM Lockley Steven W SW

Scientific reports 20171027 1

Despite sleep disturbance being a common complaint in individuals with autism, specific sleep phenotypes and their relationship to adaptive functioning have yet to be identified. This study used cluster analysis to find distinct sleep patterns and relate them to independent measures of adaptive functioning in individuals with autism. Approximately 50,000 nights of care-giver sleep/wake logs were collected on school-days for 106 individuals with low functioning autism (87 boys, 14.77 ± 3.11 years ...[more]

PMID: 29079761

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Project description:Adaptive functioning is lower in many autistic individuals to a greater extent than would be expected based on IQ. However, the clinical features associated with these difficulties are less well understood. This study examines longitudinal and contemporaneous associations of adaptive functioning in autistic youth across a wide ability range. Parent-reported autism symptoms, co-occurring emotional, behavioral and attention deficit hyperactivity disorder (ADHD) symptoms, and IQ were assessed in early childhood (M age 7 years; T1) and 6 years later in adolescence (M age 13 years; T2) in 179 autistic youth. Adaptive functioning was assessed at T2. Structural equation modeling estimated pathways to adaptive functioning from autism, and psychiatric symptoms at T1 and T2, testing whether associations were driven by continuity of behaviors from T1 to T2 or their contemporaneous effect at T2, or both, controlling for T1 IQ. Lower adaptive functioning at T2 was associated with higher T1 and T2 ADHD symptoms (β = -0.14, and β = -0.21) but not behavioral nor emotional symptoms at either timepoint. Lower adaptive functioning at T2 was also associated with lower T1 IQ (β = 0.43) and higher social communication symptoms (β = -0.37) at T2 but not T1, but the relationship with ADHD symptoms remained. Paths were not moderated by sex or IQ. Increased symptoms of ADHD, both in early childhood and contemporaneously, were associated with reduced adaptive functioning in adolescence. Co-occurring ADHD may be a modifiable risk factor for adaptive function impairments and should be routinely assessed and when present evidence-based treatments initiated which may benefit adaptive functioning outcomes. LAY SUMMARY: Adaptive functioning is lower in many autistic individuals to a greater extent than would be expected based on IQ. However, the clinical features associated with these difficulties are less well understood. In a community sample higher attention deficit/hyperactivity disorder (ADHD) symptoms, but not emotional or behavioral symptoms, in both early childhood and contemporaneously were associated with lower adaptive functioning in autistic adolescents. Co-occurring ADHD may be a modifiable risk factor for adaptive function difficulties in autism.

Project description:Individuals with autism spectrum disorder (ASD) exhibit significant impairments in adaptive functioning that impact on their ability to meet the demands of everyday life. A recurrent finding is that there is a pronounced discrepancy between level of cognitive ability and adaptive functioning, and this is particularly prominent among higher-ability individuals. However, the key clinical and demographic associations of these discrepancies remain unclear. This study included a sample of 417 children, adolescents, and adults with ASD as part of the EU-AIMS LEAP cohort. We examined how age, sex, IQ, levels of ASD symptom and autistic trait severity and psychiatric symptomatology are associated with adaptive functioning as measured by the Vineland Adaptive Behavior Scales-Second Edition and IQ-adaptive functioning discrepancies. Older age, lower IQ and higher social-communication symptoms were associated with lower adaptive functioning. Results also demonstrate that older age, higher IQ and higher social-communication symptoms are associated with greater IQ-adaptive functioning discrepancy scores. By contrast, sensory ASD symptoms, repetitive and restricted behaviors, as well as symptoms of attention deficit/hyperactivity disorder (ADHD), anxiety and depression, were not associated with adaptive functioning or IQ-adaptive functioning discrepancy scores. These findings suggest that it is the core social communication problems that define ASD that contribute to adaptive function impairments that people with ASD experience. They show for the first time that sensory symptoms, repetitive behavior and associated psychiatric symptoms do not independently contribute to adaptive function impairments. Individuals with ASD require supportive interventions across the lifespan that take account of social-communicative ASD symptom severity. Autism Res 2019, 12: 645-657. © 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: This study investigated key clinical and demographic associations of adaptive functioning impairments in individuals with autism. We found that older age, lower IQ and more severe social-communicative symptoms, but not sensory or repetitive symptoms or co-occurring psychiatric symptoms, are associated with lower adaptive functioning and greater ability-adaptive function discrepancies. This suggests that interventions targeting adaptive skills acquisition should be flexible in their timing and intensity across developmental periods, levels of cognitive ability and take account of social-communicative ASD symptom severity.

Project description:BackgroundIt is widely accepted that emotion processing difficulties are involved in Autism Spectrum Conditions (ASC). An increasing number of studies have focused on the development of training programs and have shown promising results. However, most of these programs are appropriate for individuals with high-functioning ASC (HFA) but exclude individuals with low-functioning ASC (LFA). We have developed a computer-based game called JeStiMulE based on logical skills to teach emotions to individuals with ASC, independently of their age, intellectual, verbal and academic level. The aim of the present study was to verify the usability of JeStiMulE (which is its adaptability, effectiveness and efficiency) on a heterogeneous ASC group. We hypothesized that after JeStiMulE training, a performance improvement would be found in emotion recognition tasks.MethodsA heterogeneous group of thirty-three children and adolescents with ASC received two one-hour JeStiMulE sessions per week over four weeks. In order to verify the usability of JeStiMulE, game data were collected for each participant. Furthermore, all participants were presented before and after training with five emotion recognition tasks, two including pictures of game avatars (faces and gestures) and three including pictures of real-life characters (faces, gestures and social scenes).ResultsDescriptive data showed suitable adaptability, effectiveness and efficiency of JeStiMulE. Results revealed a significant main effect of Session on avatars (ANOVA: F (1,32) = 98.48, P < .001) and on pictures of real-life characters (ANOVA: F (1,32) = 49.09, P < .001). A significant Session × Task × Emotion interaction was also found for avatars (ANOVA: F (6,192) = 2.84, P = .01). This triple interaction was close to significance for pictures of real-life characters (ANOVA: F (12,384) = 1.73, P = .057). Post-hoc analyses revealed that 30 out of 35 conditions found a significant increase after training.ConclusionsJeStiMulE appears to be a promising tool to teach emotion recognition not only to individuals with HFA but also those with LFA. JeStiMulE is thus based on ASC-specific skills, offering a model of logical processing of social information to compensate for difficulties with intuitive social processing.Trial registrationComité de Protection des Personnes Sud Méditerranée V (CPP): reference number 11.046 (https://cpp-sud-mediterranee-v.fr/).

Project description:BackgroundPrevious research has implicated de novo and inherited truncating mutations in autism-spectrum disorder. We aim to investigate whether the load of inherited truncating mutations contributes similarly to high-functioning autism, and to characterize genes that harbour de novo variants in high-functioning autism.MethodsWe performed whole-exome sequencing in 20 high-functioning autism families (average IQ = 100).ResultsWe observed no difference in the number of transmitted versus nontransmitted truncating alleles for high-functioning autism (117 v. 130, p = 0.78). Transmitted truncating and de novo variants in high-functioning autism were not enriched in gene ontology (GO) or Kyoto Encyclopedia of Genes and Genomes (KEGG) categories, or in autism-related gene sets. However, in a patient with high-functioning autism we identified a de novo variant in a canonical splice site of LRP1, a postsynaptic density gene that is a target for fragile X mental retardation protein (FRMP). This de novo variant leads to in-frame skipping of exon 29, removing 2 of 6 blades of the β-propeller domain 4 of LRP1, with putative functional consequences. Large data sets implicate LRP1 across a number of psychiatric disorders: de novo variants are associated with autism-spectrum disorder (p = 0.039) and schizophrenia (p = 0.008) from combined sequencing projects; common variants using genome-wide association study data sets from the Psychiatric Genomics Consortium show gene-based association in schizophrenia (p = 6.6 × E−07) and in a meta-analysis across 7 psychiatric disorders (p = 2.3 × E−03); and the burden of ultra-rare pathogenic variants has been shown to be higher in autism-spectrum disorder (p = 1.2 × E−05), using whole-exome sequencing from 6135 patients with schizophrenia, 1778 patients with autism-spectrum disorder and 7875 controls.LimitationsWe had a limited sample of patients with high-functioning autism, related to difficulty in recruiting probands with high cognitive performance and no family history of psychiatric disorders.ConclusionPrevious studies and ours suggest an effect of truncating mutations restricted to severe autism-spectrum disorder phenotypes that are associated with intellectual disability. We provide evidence for pleiotropic effects of common and rare variants in the LRP1 gene across psychiatric phenotypes.

Dataset Information

Behaviorally-determined sleep phenotypes are robustly associated with adaptive functioning in individuals with low functioning autism.

Publications

Behaviorally-determined sleep phenotypes are robustly associated with adaptive functioning in individuals with low functioning autism.

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