Towards better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations
This study aimed to further our understanding of restricted and repetitive behaviors (RRB) among individuals with germline pathogenic mutations in PTEN by providing multi-method characterization and comparison of key RRB subdomains across individuals with PTEN mutations with autism spectrum disorder...
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Published in | American journal of medical genetics. Part A Vol. 185; no. 11; pp. 3401 - 3410 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
23.08.2021
|
Online Access | Get full text |
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Summary: | This study aimed to further our understanding of restricted and repetitive behaviors (RRB) among individuals with germline pathogenic mutations in
PTEN
by providing multi-method characterization and comparison of key RRB subdomains across individuals with
PTEN
mutations with autism spectrum disorder (ASD) (
PTEN
-ASD), with
PTEN
mutations without ASD (
PTEN
-No ASD) and with ASD and macrocephaly but without
PTEN
mutations (Macro-ASD). Of 86 total research participants, 38 had
PTEN
-ASD (
M
age
= 8.93 years,
SD
age
= 4.75), 25 Macro-ASD (
M
age
= 11.99 years;
SD
age
= 5.15) and 23
PTEN
-No ASD (
M
age
= 8.94 years;
SD
age
= 4.85). The Repetitive Behavior Scale-Revised (RBS-R) and the Autism Diagnostic Interview-Revised (ADI-R) were used as measures of distinct RRB domains. There were significant group differences in the RBS-R repetitive motor behaviors (RMB;
F
= 4.52,
p
= .014,
ω
2
= .08), insistence on sameness (IS;
F
= 4.11,
p
= .02,
ω
2
= .05) and circumscribed interests (CI;
F
= 7.80,
p
= .001,
ω
2
= .14) scales. Post-hoc comparisons showed that the
PTEN
-No ASD group had significantly lower RMB, IS and CI scores compared to both
PTEN
-ASD and Macro-ASD groups. Importantly,
PTEN
-No ASD group still showed elevated RRB levels. Furthermore, there was a portion of individuals in
PTEN
-No ASD group whose Full-Scale Intelligence Quotient (FSIQ) was >70 that did not show floor level scores in the RMB domain. After adjusting for age and FSIQ scores, group differences were no longer statistically significant. RMB, IS and CI domains showed distinct relationship patterns with sex, age, and FSIQ. This investigation provides the largest and most comprehensive characterization of distinct RRB domains in individuals with
PTEN
mutations to date. Despite the limitations, our findings have important assessment and treatment implications. |
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Bibliography: | Author Contributions Charis Eng, Mustafa Sahin, Thomas W Frazier, and Antonio Y Hardan designed the study. Charis Eng, Mustafa Sahin, Antonio Y Hardan, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava, and Julian A. Martinez-Agosto collected the data. Mirko Uljarević and Gaëlle Rached had full access to the data and conducted the analyses. Mirko Uljarević and Antonio Y Hardan drafted the initial manuscript. All authors critically reviewed and provided the feedback on the initial version of manuscript. All authors approved the final version of the manuscript. |
ISSN: | 1552-4825 1552-4833 |
DOI: | 10.1002/ajmg.a.62458 |