Sotos syndrome is a congenital overgrowth disorder, associated with intellectual disability. Previous research suggests that Sotos syndrome may be associated with relative strength in verbal ability and relative weakness in non-verbal reasoning ability but this has not been explicitly assessed. To date, the cognitive profile of Sotos syndrome is unknown. Cognitive abilities of a large and representative sample of individuals with Sotos syndrome (N = 52) were assessed using the British Ability Scales (BAS3). The majority of participants had intellectual disability or borderline intellectual functioning. The cluster score profile analysis revealed a consistent verbal ability > non-verbal reasoning ability profile. Four specific criteria were proposed as the Sotos syndrome cognitive profile (SSCP): verbal ability > non-verbal reasoning ability; quantitative reasoning T-score or matrices T-score <20th percentile; quantitative reasoning T-score < mean T-score; recognition of designs T-score or recognition of pictures T-score > mean T-score. Of the 35 participants included in the profile analysis, 28 met all four SSCP criteria, yielding a sensitivity of 0.8. The sensitivity of each of the SSCP criteria was >0.9. Individuals with Sotos syndrome display a clear and consistent cognitive profile, characterized by relative strength in verbal ability and visuospatial memory but relative weakness in non-verbal reasoning ability and quantitative reasoning. This has important implications for the education of individuals with Sotos syndrome.
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http://dx.doi.org/10.1111/jnp.12146 | DOI Listing |
Genes (Basel)
January 2025
Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital abnormalities, intellectual disability and abnormal growth. that can be variably up- or down-regulated.
View Article and Find Full Text PDFWorld J Clin Cases
January 2025
Shanghai XiRong Information Science and Technology Co., Ltd, National Science and Technology Park, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China.
Sotos syndrome is characterized by overgrowth features and is caused by alterations in the gene. Attention-deficit/hyperactivity disorder (ADHD) is considered a neurodevelopment and psychiatric disorder in childhood. Genetic characteristics and clinical presentation could play an important role in the diagnosis of Sotos syndrome and ADHD.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Sciences.
Cureus
October 2024
Spine Surgery, Shiga General Hospital, Shiga, JPN.
There are few reports of syndromic scoliosis accompanied by a congenital vertebral anomaly. We report a case of Sotos syndrome with a concomitant congenital wedged vertebra whose kyphoscoliosis progressed rapidly and presented with myelopathy during the growth-spurt period. A 12-year-old male suffering from Sotos syndrome with T10-wedged vertebra presented with paraparesis and urinary dysfunction.
View Article and Find Full Text PDFMol Genet Genomic Med
November 2024
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Background: Sotos syndrome (SS) is a rare disorder characterized by overgrowth, distinctive facial features, and intellectual disability that is primarily caused by NSD1 pathogenic variants or 5q35 microdeletions.
Methods: We retrospectively analyzed the clinical characteristics and 339 anthropometric measurements over an average of 4.3 years of follow-up in 57 Korean children with SS.
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