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Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome.

Abstract

BACKGROUND

22q11.2 Microdeletion syndrome (22q11DS) is associated with elevated rates of autism spectrum disorders (ASDs), although the diagnosis is controversial. In order to determine whether there is a biological substrate of ASD in 22q11DS, we examined neurocognitive and structural neuroanatomic differences between those with 22q11DS and an ASD diagnosis (22q11DS-ASD+) and those with 22q11DS without ASD (22q11DS-ASD-); we then determined whether these differences were better characterized within a categorical or dimensional framework.

METHODS

We collected multiple neurocognitive measures and high-resolution T1-weighted scans on 116 individuals (29 22q11DS-ASD+, 32 22q11DS-ASD-, 55 typically developing controls) between 6 and 26 years of age. Measures of subcortical volume, cortical thickness (CT), and surface area were extracted using the FreeSurfer image analysis suite. Group differences in neurocognitive and neuroanatomic measures were assessed; regression analyses were then performed to determine whether a categorical or dimensional measure of ASD was a better predictor of neurocognitive impairment and/or neuroanatomic abnormalities observed in 22q11DS-ASD+.

RESULTS

In comparison to 22q11DS-ASD-, 22q11DS-ASD+ participants exhibited decreased bilateral hippocampal CT and decreased right amygdala volumes. Those with 22q11DS-ASD+ also showed slowed processing speed and impairments in visuospatial and facial memory. Neurocognitive impairments fit a dimensional model of ASD, whereas reductions in parahippocampal CT were best explained by a categorical measure of ASD.

CONCLUSIONS

A combination of categorical and dimensional measures of ASD may provide the most comprehensive understanding of ASDs in 22q11DS.

Authors+Show Affiliations

University of Pittsburgh, Department of Psychiatry.University of California, Los Angeles, Department of Psychiatry and Biobehavioral Sciences.University of Southern California, Keck School of Medicine.University of California, Los Angeles, Department of Psychiatry and Biobehavioral Sciences; University of California, Los Angeles, Interdepartmental Neuroscience Program.University of California, Los Angeles, Department of Psychiatry and Biobehavioral Sciences.University of California, Los Angeles, Department of Psychiatry and Biobehavioral Sciences.University of California, Los Angeles, Department of Psychiatry and Biobehavioral Sciences; University of California, Los Angeles, Department of Psychology.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28367513

Citation

Jalbrzikowski, Maria, et al. "Categorical Versus Dimensional Approaches to Autism-associated Intermediate Phenotypes in 22q11.2 Microdeletion Syndrome." Biological Psychiatry. Cognitive Neuroscience and Neuroimaging, vol. 2, no. 1, 2017, pp. 53-65.
Jalbrzikowski M, Ahmed KH, Patel A, et al. Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome. Biol Psychiatry Cogn Neurosci Neuroimaging. 2017;2(1):53-65.
Jalbrzikowski, M., Ahmed, K. H., Patel, A., Jonas, R., Kushan, L., Chow, C., & Bearden, C. E. (2017). Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome. Biological Psychiatry. Cognitive Neuroscience and Neuroimaging, 2(1), pp. 53-65. doi:10.1016/j.bpsc.2016.06.007.
Jalbrzikowski M, et al. Categorical Versus Dimensional Approaches to Autism-associated Intermediate Phenotypes in 22q11.2 Microdeletion Syndrome. Biol Psychiatry Cogn Neurosci Neuroimaging. 2017;2(1):53-65. PubMed PMID: 28367513.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Categorical versus dimensional approaches to autism-associated intermediate phenotypes in 22q11.2 microdeletion syndrome. AU - Jalbrzikowski,Maria, AU - Ahmed,Khwaja Hamzah, AU - Patel,Arati, AU - Jonas,Rachel, AU - Kushan,Leila, AU - Chow,Carolyn, AU - Bearden,Carrie E, PY - 2017/4/4/entrez PY - 2017/4/4/pubmed PY - 2017/4/4/medline KW - amygdala KW - cortical thickness KW - dimensional measures KW - parahippocampus KW - social behavior KW - velocardiofacial syndrome SP - 53 EP - 65 JF - Biological psychiatry. Cognitive neuroscience and neuroimaging JO - Biol Psychiatry Cogn Neurosci Neuroimaging VL - 2 IS - 1 N2 - BACKGROUND: 22q11.2 Microdeletion syndrome (22q11DS) is associated with elevated rates of autism spectrum disorders (ASDs), although the diagnosis is controversial. In order to determine whether there is a biological substrate of ASD in 22q11DS, we examined neurocognitive and structural neuroanatomic differences between those with 22q11DS and an ASD diagnosis (22q11DS-ASD+) and those with 22q11DS without ASD (22q11DS-ASD-); we then determined whether these differences were better characterized within a categorical or dimensional framework. METHODS: We collected multiple neurocognitive measures and high-resolution T1-weighted scans on 116 individuals (29 22q11DS-ASD+, 32 22q11DS-ASD-, 55 typically developing controls) between 6 and 26 years of age. Measures of subcortical volume, cortical thickness (CT), and surface area were extracted using the FreeSurfer image analysis suite. Group differences in neurocognitive and neuroanatomic measures were assessed; regression analyses were then performed to determine whether a categorical or dimensional measure of ASD was a better predictor of neurocognitive impairment and/or neuroanatomic abnormalities observed in 22q11DS-ASD+. RESULTS: In comparison to 22q11DS-ASD-, 22q11DS-ASD+ participants exhibited decreased bilateral hippocampal CT and decreased right amygdala volumes. Those with 22q11DS-ASD+ also showed slowed processing speed and impairments in visuospatial and facial memory. Neurocognitive impairments fit a dimensional model of ASD, whereas reductions in parahippocampal CT were best explained by a categorical measure of ASD. CONCLUSIONS: A combination of categorical and dimensional measures of ASD may provide the most comprehensive understanding of ASDs in 22q11DS. SN - 2451-9030 UR - https://www.unboundmedicine.com/medline/citation/28367513/Categorical_versus_dimensional_approaches_to_autism_associated_intermediate_phenotypes_in_22q11_2_microdeletion_syndrome_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/28367513/ DB - PRIME DP - Unbound Medicine ER -