ArticlePediatric neurology2019
Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
Article in Pediatric neurology, 2019. 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 17 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
17 citing papers in PubMed, 23 citations in OpenAlex.
- Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.Clinical genetics · 2026Article
- Globally Reduced Brain Volume in Rett Syndrome.Pediatric neurology · 2025Article
- Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.Orphanet journal of rare diseases · 2025Article
- Developmental Disruptions of the Dorsal Striatum in Autism Spectrum Disorder.Biological psychiatry · 2024Review
- Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction.Frontiers in psychiatry · 2024Review
- Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023Review
- Striatal increase of dopamine receptor 2 density in idiopathic and syndromic mouse models of autism spectrum disorder.Frontiers in psychiatry · 2023Article
- Bridging the translational gap: what can synaptopathies tell us about autism?Frontiers in molecular neuroscience · 2023Review
- Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models.International journal of molecular sciences · 2022Review
- Repetitive Restricted Behaviors in Autism Spectrum Disorder: From Mechanism to Development of Therapeutics.Frontiers in neuroscience · 2022Review
- Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.Journal of neurodevelopmental disorders · 2021Observational
- 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
- Common and Distinct Disruptions of Cortical Surface Morphology Between Autism Spectrum Disorder Children With and WithoutFrontiers in neuroscience · 2021Article
- Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits.Nature neuroscience · 2020Article
- Neural Stem Cells from Shank3-ko Mouse Model Autism Spectrum Disorders.Molecular neurobiology · 2020Article
- Severe white matter damage in SHANK3 deficiency: a human and translational study.Annals of clinical and translational neurology · 2020Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
objectivePhelan-McDermid syndrome is caused by haploinsufficiency of SHANK3 on terminal chromosome 22. Knowledge about altered neuroanatomic circuitry in Phelan-McDermid syndrome comes from mouse models showing striatal hypertrophy in the basal ganglia, and from humans with evidence of cerebellar atrophy. To date, no studies have performed volumetric analysis on Phelan-McDermid syndrome patients.
methodsWe performed volumetric analysis of baseline brain MRIs of Phelan-McDermid syndrome patients (ages three to 21 years) enrolled in a prospective natural history study (ClinicalTrials.gov NCT02461420). Using MRI segmentations carried out with PSTAPLE algorithm, we measured relative volumes (volume of the structure divided by the volume of the brain parenchyma) of basal ganglia and cerebellar structures. We compared these measurements to those of age- and sex-matched healthy controls part of another study. Among the patients, we performed linear regression of each relative volume using Repetitive Behavior Scale-Revised total score and Aberrant Behavior Checklist stereotypy score. Eleven patients with Phelan-McDermid syndrome (six females, five males) and 11 healthy controls were in this analysis.
resultsAt time of MRI, the mean age of the patients and controls was 9.24 (5.29) years and 9.00 (4.49) years, respectively (P = 0.66). Compared to controls, patients had decreased caudate (P ≤ 0.013), putamen (P ≤ 0.026), and left pallidum (P = 0.033) relative volumes. Relative volume of cerebellar vermal lobules I to V (beta coefficient = -17119, P = 0.017) decreased with increasing Repetitive Behavior Scale-Revised total score.
conclusionsThe volumes of the striatum and left pallidum are decreased in individuals with Phelan-McDermid syndrome. Cerebellar vermis volume may predict repetitive behavior severity in Phelan-McDermid syndrome. These findings warrant further investigation in larger samples.
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