Observational studyPediatric neurology2020
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
Observational study in Pediatric neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02461420 (Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome), which is not on this map. Cited by 12 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Artificial Intelligence Networks Combining Histopathology and Machine Learning Can Extract Axon Pathology in Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2025Article
- Mapping along-tract commissural and association white matter microstructural differences in autistic children and young adults.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- White matter tract crossing and bottleneck regions in the fetal brain.bioRxiv : the preprint server for biology · 2024Article
- A detailed spatio-temporal atlas of the white matter tracts for the fetal brain.bioRxiv : the preprint server for biology · 2024Article
- Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews.European journal of pediatrics · 2024Article
- Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI.Orphanet journal of rare diseases · 2023Article
- "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome.Children (Basel, Switzerland) · 2022Article
- Article
- SHANK3 deficiency leads to myelin defects in the central and peripheral nervous system.Cellular and molecular life sciences : CMLS · 2022Article
- Reduced brain volume and white matter alterations in Shank3-deficient rats.Autism research : official journal of the International Society for Autism Research · 2021Article
- Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling.Progress in neurobiology · 2021Article
- 40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in theInternational journal of molecular sciences · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundThis cohort study utilized diffusion tensor imaging tractography to compare the uncinate fasciculus and inferior longitudinal fasciculus in children with Phelan-McDermid syndrome with age-matched controls and investigated trends between autism spectrum diagnosis and the integrity of the uncinate fasciculus and inferior longitudinal fasciculus white matter tracts.
methodsThis research was conducted under a longitudinal study that aims to map the genotype, phenotype, and natural history of Phelan-McDermid syndrome and identify biomarkers using neuroimaging (ClinicalTrial NCT02461420). Patients were aged three to 21 years and underwent longitudinal neuropsychologic assessment over 24 months. MRI processing and analyses were completed using previously validated image analysis software distributed as the Computational Radiology Kit (http://crl.med.harvard.edu/). Whole-brain connectivity was generated for each subject using a stochastic streamline tractography algorithm, and automatically defined regions of interest were used to map the uncinate fasciculus and inferior longitudinal fasciculus.
resultsThere were 10 participants (50% male; mean age 11.17 years) with Phelan-McDermid syndrome (n = 8 with autism). Age-matched controls, enrolled in a separate longitudinal study (NIH R01 NS079788), underwent the same neuroimaging protocol. There was a statistically significant decrease in the uncinate fasciculus fractional anisotropy measure and a statistically significant increase in uncinate fasciculus mean diffusivity measure, in the patient group versus controls in both right and left tracts (P ≤ 0.024).
conclusionBecause the uncinate fasciculus plays a critical role in social and emotional interaction, this tract may underlie some deficits seen in the Phelan-McDermid syndrome population. These findings need to be replicated in a larger cohort.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.