Publications by authors named "Lili Senman"

Article Synopsis
  • * Conducted in Toronto and nearby pediatric practices from June 2016 to March 2020, the research involved blinded assessments of children under 5.5 years old with developmental concerns who had not yet been diagnosed with ASD.
  • * Results showed that pediatricians had a sensitivity of 75% and specificity of 79% compared to a multidisciplinary team; they had a positive predictive value of 89% but a lower negative predictive value of 60%, indicating variability in their diagnostic accuracy.
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Background: The term "weaponized autism" is frequently used on extremist platforms. To better understand this, we conducted a discourse analysis of posts on Gab, an alt-right social media platform.

Methods: We analyzed 711 posts spanning 2018-2019 and filtered for variations on the term "weaponized autism".

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We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.

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Article Synopsis
  • The human neurexin gene family includes NRXN1, NRXN2, and NRXN3, which are crucial for the development and function of synapses in the brain.
  • In autism spectrum disorder (ASD) and other neurodevelopmental conditions, variations in the NRXN1 and NRXN2 genes have been linked to the disorder, while this report focuses on rare deletions in the NRXN3 gene.
  • The study highlights four ASD cases with NRXN3 deletions, showcasing the complexity of genetic factors in autism, including issues of penetrance and expressivity among family members with and without formal ASD diagnoses.
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Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability.

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Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8).

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Article Synopsis
  • - The autism spectrum disorders (ASDs) are marked by difficulties in social interaction and communication along with repetitive behaviors, showing a wide range in cognitive abilities from high intelligence to intellectual disability.
  • - A study comparing individuals with ASD to control subjects found that those with ASD had a higher frequency of rare genetic variations linked to autism and intellectual disability, identifying new genes like SHANK2 and SYNGAP1.
  • - These findings indicate potential new genetic targets related to ASD, specifically in pathways affecting brain function and cellular processes, which could lead to a better understanding of the disorder.
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Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families.

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Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2.

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We report detailed clinical, cytogenetic, and molecular findings in a girl with a deletion of chromosome 7q31-q32. This child has a severe communication disorder with evidence of oromotor dyspraxia, dysmorphic features, and mild developmental delay. She is unable to cough, sneeze, or laugh spontaneously.

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Two studies addressed the role of representation ability and control of attention on solutions to an appearance-reality task based on two types of objects, real and representational. In Study 1, 67 preschool children (3-, 4-, and 5-year-olds) solved appearance-reality problems and executive processing tasks. There was an interaction between object type (real vs.

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