Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome

Pollak, Rebecca M; Pincus, Jordan; Burrell, T. Lindsey; Cubells, Joseph F.; Klaiman, Cheryl; Murphy, Melissa M.; Saulnier, Celine A.; Walker, Elaine F.; White, Steven J.; Mullé, Jennifer G.

doi:10.1186/s13229-022-00533-2

Cited by 3 publications

(3 citation statements)

References 58 publications

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“…This is consistent with prior work by our team identifying significant deficits in visual-motor integration, particularly motor coordination and graphomotor abilities, in this population (Sanchez Russo et al 2021;Pollak et al 2022a), highlighting the need for fostering writing skills. Additionally, we have reported that individuals with 3q29del have relatively well-preserved expressive and social communication skills (Pollak et al 2019;Pollak et al 2022b); communication-focused interventions should leverage these relative strengths.…”

Section: Discussionmentioning

confidence: 98%

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Adaptive behaviour deficits in individuals with 3q29 deletion syndrome

Pollak,

Burrell,

Cubells

et al. 2023

J intellect Disabil Res

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Background3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behaviour. However, the full profile of adaptive function in 3q29del has not been described nor has it been compared with other genomic syndromes associated with elevated risk for neurodevelopmental and neuropsychiatric phenotypes.MethodsIndividuals with 3q29del (n = 32, 62.5% male) were evaluated using the Vineland Adaptive Behaviour Scales, Third Edition, Comprehensive Parent/Caregiver Form (Vineland‐3). We explored the relationship between adaptive behaviour and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del with published data on fragile X syndrome, 22q11.2 deletion syndrome and 16p11.2 deletion and duplication syndromes.ResultsIndividuals with 3q29del had global deficits in adaptive behaviour that were not driven by specific weaknesses in any given domain. Individual neurodevelopmental and neuropsychiatric diagnoses had a small effect on adaptive behaviour, and the cumulative number of comorbid diagnoses was significantly negatively associated with Vineland‐3 performance. Both cognitive ability and executive function were significantly associated with adaptive behaviour, and executive function was a better predictor of Vineland‐3 performance than cognitive ability. Finally, the severity of adaptive behaviour deficits in 3q29del was distinct from previously published data on comparable genomic disorders.ConclusionsIndividuals with 3q29del have significant deficits in adaptive behaviour, affecting all domains assessed by the Vineland‐3. Executive function is a better predictor of adaptive behaviour than cognitive ability in this population and suggests that interventions targeting executive function may be an effective therapeutic strategy.

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Section: Discussionmentioning

confidence: 98%

“…2019; Pollak et al . 2022b); communication‐focused interventions should leverage these relative strengths.…”

Section: Discussionmentioning

confidence: 99%

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome

Pollak,

Burrell,

Cubells

et al. 2023

J intellect Disabil Res

View full text Add to dashboard Cite

show abstract

“…This is consistent with prior work by our team identifying significant deficits in visual-motor integration, particularly motor coordination and graphomotor abilities, in this population (Sanchez Russo et al, 2021, Pollak et al, 2022a, highlighting the need for fostering writing skills. Additionally, we have reported that individuals with 3q29del have relatively well-preserved expressive and social communication skills (Pollak et al, 2022b, Pollak et al, 2019; thus, communication-focused interventions should leverage these relative strengths.…”

Section: Discussionmentioning

confidence: 99%

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

Pollak

Burrell

Cubells

et al. 2023

Preprint

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Background 3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behavior. However, the full profile of adaptive function in 3q29del has not been described, nor has it been compared to other genomic syndromes associated with elevated risk for neurodevelopmental and neuropsychiatric phenotypes. Methods Individuals with 3q29del (n=32, 62.5% male) were evaluated using the Vineland Adaptive Behavior Scales, Third Edition, Comprehensive Parent/Caregiver Form (Vineland-3). We explored the relationship between adaptive behavior and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del to published data on Fragile X syndrome, 22q11.2 deletion syndrome, and 16p11.2 deletion and duplication syndromes. Results Individuals with 3q29del had global deficits in adaptive behavior that were not driven by specific weaknesses in any given domain. Individual neurodevelopmental and neuropsychiatric diagnoses had a small effect on adaptive behavior, and the cumulative number of comorbid diagnoses was significantly negatively associated with Vineland-3 performance. Both cognitive ability and executive function were significantly associated with adaptive behavior, and executive function was a better predictor of Vineland-3 performance than cognitive ability. Finally, the severity of adaptive behavior deficits in 3q29del was distinct from previously published data on comparable genomic disorders. Conclusions Individuals with 3q29del have significant deficits in adaptive behavior, affecting all domains assessed by the Vineland-3. Executive function is a better predictor of adaptive behavior than cognitive ability in this population and suggests that interventions targeting executive function may be an effective therapeutic strategy.

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Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry

Pollak,

Mortillo,

Murphy

et al. 2024

J Autism Dev Disord

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Abstract3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior Checklist (CBCL/ABCL) via the online 3q29 registry (3q29deletion.org). Typically developing controls (n = 57, 49.12% male) were ascertained as a comparison group. We analyzed mean performance on the CBCL/ABCL for individuals with 3q29del and controls across composite, DSM-keyed, and developmental scales; and the relationship between CBCL/ABCL performance and clinical and developmental phenotypes for individuals with 3q29del. Individuals with 3q29del showed significantly elevated behavioral and developmental impairment relative to controls across CBCL/ABCL domains. A substantial proportion of study participants with 3q29del scored in the Borderline or Clinical range for composite and DSM-keyed scales, indicating significant behavioral problems that may require clinical evaluation. We found that the preschool CBCL DSM-keyed autism spectrum problems scale is a potential screening tool for autism spectrum disorder (ASD) for individuals with 3q29del; CBCL/ABCL DSM-keyed scales were not accurate screeners for anxiety disorders or attention-deficit/hyperactivity disorder (ADHD) in our study sample. We identified a high degree of psychiatric comorbidity in individuals with 3q29del, with 60.42% (n = 58) of individuals with 3q29del scoring in the Borderline or Clinical range on two or more DSM-keyed CBCL/ABCL scales. Finally, we found that the degree of developmental delay in participants with 3q29del does not explain the increased behavioral problems observed on the CBCL/ABCL. The CBCL/ABCL can be used as screening tools in populations such as 3q29del, even in the presence of substantial psychiatric comorbidity. These results expand our understanding of the phenotypic spectrum of 3q29del and demonstrate an effective method for recruiting and phenotyping a large sample of individuals with a rare genetic disorder.

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Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome

Cited by 3 publications

References 58 publications

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry

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