Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder

Bishop, Somer; Farmer, Cristan; Bal, Vanessa H.; Robinson, Elise; Willsey, A. Jeremy; Werling, Donna M.; Havdahl, Alexandra; Sanders, Stephan; Thurm, Audrey

doi:10.1176/appi.ajp.2017.16101115

Cited by 80 publications

(82 citation statements)

References 36 publications

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“…The underestimation of ASD in the pediatric series could be related to a relative preservation of the communicative skills. 34 In our series, 23 of 30 patients (77%) presented ID. 19 The relative preservation of social smiling in our series and the fact that 17 of 30 patients had adapted Affective Expression on PEP-3, show that children with DS and ASD show more pro-socials features than expected for a typical case of autism and explain again the underestimated prevalence of ASD in previous reports.…”

Section: Discussionmentioning

confidence: 53%

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Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

et al. 2018

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Summary Objective We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and parental questionnaires to delineate their specific profiles. Methods We included 35 patients with DS aged 24 months to 7 years, excluding patients with a developmental age (DA) <18 months (n = 5). We performed specific tests adapted for ID (Psychoeducational Profile, Third Edition [PEP‐3]), in addition to the Child Development Inventory (CDI) and Vineland Adaptive Behavior Scales, Second Edition (VABS‐II) questionnaires. We used 2 standardized tools for ASD: the Autism Diagnostic Observation Schedule, Second Edition (ADOS‐2) and the Autism Diagnostic Interview‐Revised (ADI‐R). We compared the with parental questionnaires and the VABS‐II, and with ASD characteristics. Results PEP‐3 subscales showed pathologic development in all but one patient (97%): ID in 23 of 30 (77%), and borderline cognitive functioning in 6 of 30 (22%). Eleven patients (39%) had ASD and 2 (7%) had a Social Communication Disorder (SCD) diagnosis. We found no difference between PEP‐3 and CDI categorization except for fine motor skills. We found significant negative correlations between ADOS‐2 and PEP‐3 for the majority of scores. For patients aged older than 50 months, 2 groups emerged (ASD/no ASD) with significant difference in DA. The logistic regression for ASD diagnosis explained by VABS‐II showed a significant effect for Socialization, Motor Skills, and Adaptive Behavior. Significance We found a high prevalence of ID in patients with DS. ID is characterized by expressive and comprehensive communication deficits in addition to visuospatial difficulties. ASD showed a specific profile with a relative preservation of social skills, emphasizing a possible underdiagnosis. Parental questionnaires can provide a good assessment of cognitive profile and might allow the difficulty of addressing cognitive scales in DS to be overcome. The profile of ID and ASD should help to establish early adapted rehabilitation programs and emphasizes the global need for care beyond seizures in DS and other developmental epileptic encephalopathies.

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Section: Discussionmentioning

confidence: 53%

“…A similar phenotype has been described in patients with ASD due to de novo genetic etiologies compared to patients with ASD and no genetic abnormalities. 34 In our series, 23 of 30 patients (77%) presented ID. We used the PEP-3 scale, since it is designed especially for "hard to assess" children.…”

Section: Discussionmentioning

confidence: 53%

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

et al. 2018

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“…It is recognized that heterogeneity in clinical presentation is influenced by genetic variability, comorbidity, and sex [Beggiato et al, ; Bishop et al, ; Havdahl et al, ; Masi, DeMayo, Glozier, & Guastella, ], and small studies will sample unevenly across these dimensions, limiting both the reproducibility and generalizability of findings. In addition, the importance of demographic factors such as socioeconomic status (SES) is particularly important to address, given the strong link between demographic factors (e.g., SES, minority status) and presentation and outcomes in ASD [Dickerson et al, ; Zamora, Williams, Higareda, Wheeler, & Levitt, ].…”

Section: Introductionmentioning

confidence: 99%

Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study

et al. 2020

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The objective of this study was to establish a large, densely sampled, U.S. population‐based cohort of people with autism spectrum disorder (ASD). The Rhode Island Consortium for Autism Research and Treatment (RI‐CART) represents a unique public‐private‐academic collaboration involving all major points of service for families in Rhode Island affected by ASD. Diagnosis was based on direct behavioral observation via the Autism Diagnostic Observation Schedule, Second Edition. For the first 1,000 participants, ages ranged from 21 months to 64 years. Using Geographic Information System and published prevalence rates, the overall cohort is estimated to represent between 20% and 49% of pediatric age persons in Rhode Island with ASD, with demographics representative of U.S. Census. We observed a high rate of co‐occurring medical and psychiatric conditions in affected individuals. Among the most prominent findings of immediate clinical importance, we found that females received a first diagnosis of ASD at a later age than males, potentially due to more advanced language abilities in females with ASD. In summary, this is the first analysis of a large, population‐based U.S. cohort with ASD. Given the depth of sampling, the RI‐CART study reflects an important new resource for studying ASD in a representative U.S. population. Psychiatric and medical comorbidities in ASD constitute a substantial burden and warrant adequate attention as part of overall treatment. Our study also suggests that new strategies for earlier diagnosis of ASD in females may be warranted. Autism Res 2020, 13: 474–488. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary The Rhode Island Consortium for Autism Research and Treatment (RI‐CART) represents a unique public‐private‐academic collaboration involving all major points of service for families in Rhode Island affected by autism spectrum disorder (ASD). In this article, we provide results from the first 1,000 participants, estimated to represent >20% of affected families in the state. Importantly, we find a later age at first diagnosis of ASD in females, which potentially calls attention to the need for improved early diagnosis in girls. Also, we report a high rate of co‐occurring medical and psychiatric conditions in affected individuals.

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“…As predicted, we found that children with 22q11DS diagnosed with ASD are less impaired than children with iASD in measures of ASD core symptoms, expressed by lower overall calibrated scores of the ADOS-2 ( p = 0.007). In line with these findings, children with de novo mutations diagnosed with ASD showed less impairment in measures of ASD core symptoms in comparison to children with iASD [22]. …”

Section: Discussionmentioning

confidence: 69%

Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism

Serur¹,

Frumer

Daon

et al. 2019

Eur. psychiatr.

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Background: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD. Methods: We identified the psychiatric disorders and autistic phenotype of young children with 22q11DS (age 3 to 8 years) and compared them with those of age and sexmatched children with idiopathic autism (iASD). We used the gold standard psychiatric and ASD assessments including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and a clinical examination by a child psychiatrist. Results Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including anxiety disorders and ADHD, and 16% met strict criteria for ASD. Children with 22q11DS and ASD symptoms had less severe overall ASD symptoms than those with iASD. Children with 22q11DS, regardless of ASD diagnosis, were characterized by repetitive restricted behaviors. Conclusions: Our results highlight the need to screen for psychiatric disorders in 22q11DS and treat them already in preschool years.

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Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder

Cited by 80 publications

References 36 publications

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype

Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study

Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism

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