Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study
Resting-state functional magnetic resonance imaging (rs-fMRI) has the potential to investigate abnormalities in brain network structure and connectivity on an individual level in neurodevelopmental disorders, such as autism spectrum disorder (ASD), paving the way toward using this technology for a p...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-08-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/11/9/854 |
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| author | Andrew R. Pines Bethany Sussman Sarah N. Wyckoff Patrick J. McCarty Raymond Bunch Richard E. Frye Varina L. Boerwinkle |
| author_facet | Andrew R. Pines Bethany Sussman Sarah N. Wyckoff Patrick J. McCarty Raymond Bunch Richard E. Frye Varina L. Boerwinkle |
| author_sort | Andrew R. Pines |
| collection | DOAJ |
| description | Resting-state functional magnetic resonance imaging (rs-fMRI) has the potential to investigate abnormalities in brain network structure and connectivity on an individual level in neurodevelopmental disorders, such as autism spectrum disorder (ASD), paving the way toward using this technology for a personalized, precision medicine approach to diagnosis and treatment. Using a case-control design, we compared five patients with severe regressive-type ASD to five patients with temporal lobe epilepsy (TLE) to examine the association between brain network characteristics and diagnosis. All children with ASD and TLE demonstrated intact motor, language, and frontoparietal (FP) networks. However, aberrant networks not usually seen in the typical brain were also found. These aberrant networks were located in the motor (40%), language (80%), and FP (100%) regions in children with ASD, while children with TLE only presented with aberrant networks in the motor (40%) and language (20%) regions, in addition to identified seizure onset zones. Fisher’s exact test indicated a significant relationship between aberrant FP networks and diagnosis (<i>p =</i> 0.008), with ASD and atypical FP networks co-occurring more frequently than expected by chance. Despite severe cognitive delays, children with regressive-type ASD may demonstrate intact typical cortical network activation despite an inability to use these cognitive facilities. The functions of these intact cognitive networks may not be fully expressed, potentially because aberrant networks interfere with their long-range signaling, thus creating a unique “locked-in network” syndrome. |
| first_indexed | 2024-03-10T07:32:02Z |
| format | Article |
| id | doaj.art-89c19adf6ee142f3ac3605aa9a7fac88 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-10T07:32:02Z |
| publishDate | 2021-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-89c19adf6ee142f3ac3605aa9a7fac882023-11-22T13:50:07ZengMDPI AGJournal of Personalized Medicine2075-44262021-08-0111985410.3390/jpm11090854Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control StudyAndrew R. Pines0Bethany Sussman1Sarah N. Wyckoff2Patrick J. McCarty3Raymond Bunch4Richard E. Frye5Varina L. Boerwinkle6Mayo Clinic Alix School of Medicine, 13400 E Shea Blvd, Scottsdale, AZ 85259, USADivision of Neurology, Barrow Neurological Institute at Phoenix Children’s Hospital, 1919 E. Thomas Rd, Ambulatory Building, Phoenix, AZ 85016, USADivision of Neurology, Barrow Neurological Institute at Phoenix Children’s Hospital, 1919 E. Thomas Rd, Ambulatory Building, Phoenix, AZ 85016, USASection on Neurodevelopmental Disorders, Division of Neurology, Barrow Neurological Institute at Phoenix Children’s Hospital, 1919 E. Thomas Rd, Ambulatory Building, Phoenix, AZ 85016, USADivision of Psychiatry, Barrow Neurological Institute at Phoenix Children’s Hospital, 1919 E. Thomas Rd, Ambulatory Building, Phoenix, AZ 85016, USADepartment of Child Health, University of Arizona College of Medicine–Phoenix, Phoenix, AZ 85004, USADivision of Neurology, Barrow Neurological Institute at Phoenix Children’s Hospital, 1919 E. Thomas Rd, Ambulatory Building, Phoenix, AZ 85016, USAResting-state functional magnetic resonance imaging (rs-fMRI) has the potential to investigate abnormalities in brain network structure and connectivity on an individual level in neurodevelopmental disorders, such as autism spectrum disorder (ASD), paving the way toward using this technology for a personalized, precision medicine approach to diagnosis and treatment. Using a case-control design, we compared five patients with severe regressive-type ASD to five patients with temporal lobe epilepsy (TLE) to examine the association between brain network characteristics and diagnosis. All children with ASD and TLE demonstrated intact motor, language, and frontoparietal (FP) networks. However, aberrant networks not usually seen in the typical brain were also found. These aberrant networks were located in the motor (40%), language (80%), and FP (100%) regions in children with ASD, while children with TLE only presented with aberrant networks in the motor (40%) and language (20%) regions, in addition to identified seizure onset zones. Fisher’s exact test indicated a significant relationship between aberrant FP networks and diagnosis (<i>p =</i> 0.008), with ASD and atypical FP networks co-occurring more frequently than expected by chance. Despite severe cognitive delays, children with regressive-type ASD may demonstrate intact typical cortical network activation despite an inability to use these cognitive facilities. The functions of these intact cognitive networks may not be fully expressed, potentially because aberrant networks interfere with their long-range signaling, thus creating a unique “locked-in network” syndrome.https://www.mdpi.com/2075-4426/11/9/854autism spectrum disorderlocked-in network syndromeresting-state functional magnetic resonance imagingtemporal lobe epilepsy |
| spellingShingle | Andrew R. Pines Bethany Sussman Sarah N. Wyckoff Patrick J. McCarty Raymond Bunch Richard E. Frye Varina L. Boerwinkle Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study Journal of Personalized Medicine autism spectrum disorder locked-in network syndrome resting-state functional magnetic resonance imaging temporal lobe epilepsy |
| title | Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study |
| title_full | Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study |
| title_fullStr | Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study |
| title_full_unstemmed | Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study |
| title_short | Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study |
| title_sort | locked in intact functional networks in children with autism spectrum disorder a case control study |
| topic | autism spectrum disorder locked-in network syndrome resting-state functional magnetic resonance imaging temporal lobe epilepsy |
| url | https://www.mdpi.com/2075-4426/11/9/854 |
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