| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Rossella Borghi, Valentina Magliocca, Marina Trivisano, Nicola Specchio, Marco Tartaglia, Enrico Bertini, Claudia Compagnucc. Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids. International journal of molecular sciences. vol 23. issue 7. 2022-04-12. PMID:35408865. |
pcdh19 clustering epilepsy (pcdh19-ce) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from focal epilepsy with rare seizures and normal cognitive development to severe drug-resistant epilepsy associated with intellectual disability and autism. |
2022-04-12 |
2023-08-13 |
human |
| Brenda Tsang, Cecilia Nga Wing Leung, Raymond Won Shing Cha. A feasibility study on social competence intervention for Chinese adolescents and adults with comorbid autism spectrum disorder and intellectual disability. Journal of applied research in intellectual disabilities : JARID. 2022-04-11. PMID:35403773. |
a feasibility study on social competence intervention for chinese adolescents and adults with comorbid autism spectrum disorder and intellectual disability. |
2022-04-11 |
2023-08-13 |
Not clear |
| Andreea Cătană, Ruxandra Simonescu-Colan, Zina Cuzmici-Barabaș, Diana Militaru, Irina Iordănescu, Mariela Sanda Militar. First documented case of Myhre syndrome in Romania: A case report. Experimental and therapeutic medicine. vol 23. issue 5. 2022-04-07. PMID:35386616. |
myhre syndrome is a rare genetic autosomal dominant connective tissue disorder, characterized by developmental delay, characteristic facial features, various bone and joint abnormalities, distinctive cardiovascular, ophthalmological and ear, nose and throat (ent) manifestations, in association with mild to moderate intellectual disability and autism or autism spectrum disorder-like behaviour. |
2022-04-07 |
2023-08-13 |
Not clear |
| Liron Davis, Prudhvi Raj Rayi, Dmitriy Getselter, Hanoch Kaphzan, Evan Elliot. CTCF in parvalbumin-expressing neurons regulates motor, anxiety and social behavior and neuronal identity. Molecular brain. vol 15. issue 1. 2022-04-05. PMID:35379308. |
there are wide range of behaviors associated with these mutations, including intellectual disabilities, changes in temperament, and autism. |
2022-04-05 |
2023-08-13 |
mouse |
| Tai-Ling Liu, Peng-Wei Wang, Ray C Hsiao, Hsing-Chang Ni, Sophie Hsin-Yi Liang, Chiao-Fan Lin, Hsiang-Lin Chan, Yi-Hsuan Hsieh, Liang-Jen Wang, Min-Jing Lee, Wen-Jiun Chou, Cheng-Fang Ye. Multiple types of harassment victimization in adolescents with autism spectrum disorder: Related factors and effects on mental health problems. Journal of the Formosan Medical Association = Taiwan yi zhi. 2022-03-29. PMID:35346540. |
this study examined the prevalence and related factors of multiple (two or three) types of harassment victimization, including school bullying, cyberbullying, and teacher harassment, and their cumulative effects on depression, anxiety, self-esteem, and suicidality in adolescents with autism spectrum disorder (asd) but without intellectual disability. |
2022-03-29 |
2023-08-13 |
Not clear |
| Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Antona, Vincenzo Salpietro, Giuseppa Renata Mangano, Mario Giuffrè, Rosaria Nardell. Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review. Molecular genetics & genomic medicine. 2022-03-29. PMID:35348308. |
notably, the scn2a variant, with an earlier expression timing in brain development, resulted in a more severe phenotype as autism spectrum disorder and developmental delay, while the scn8a variant, with a later expression timing, resulted in a less severe phenotype as intellectual disability. |
2022-03-29 |
2023-08-13 |
human |
| Owen Kane, Almedia McCoy, Reem Jada, Veronika Borisov, Liron Zag, Amir Zag, Kinneret Schragenheim-Rozales, Reut Shalgi, Nina S Levy, Andrew P Levy, Eric D Mars. Characterization of spontaneous seizures and EEG abnormalities in a mouse model of the human A350V IQSEC2 mutation and identification of a possible target for precision medicine based therapy. Epilepsy research. vol 182. 2022-03-28. PMID:35344748. |
mutations in the iqsec2 gene are associated with drug resistant epilepsy, intellectual disability and autism. |
2022-03-28 |
2023-08-13 |
mouse |
| Giuseppe Donato Mangano, Antonella Riva, Antonina Fontana, Vincenzo Salpietro, Giuseppa Renata Mangano, Giulia Nobile, Alessandro Orsini, Michele Iacomino, Roberta Battini, Guja Astrea, Pasquale Striano, Rosaria Nardell. De novo GRIN2A variants associated with epilepsy and autism and literature review. Epilepsy & behavior : E&B. vol 129. 2022-02-26. PMID:35217385. |
among genes coding nmdar subunits, grin2b is predominantly associated with neurodevelopmental disorders such as intellectual disability, developmental delay, autism, attention-deficit/hyperactivity disorder and, further, schizophrenia, alzheimer's disease. |
2022-02-26 |
2023-08-13 |
Not clear |
| Giuseppe Donato Mangano, Antonella Riva, Antonina Fontana, Vincenzo Salpietro, Giuseppa Renata Mangano, Giulia Nobile, Alessandro Orsini, Michele Iacomino, Roberta Battini, Guja Astrea, Pasquale Striano, Rosaria Nardell. De novo GRIN2A variants associated with epilepsy and autism and literature review. Epilepsy & behavior : E&B. vol 129. 2022-02-26. PMID:35217385. |
to contribute to elucidate the latter issue and to better define the genotype/phenotype correlation, we report the clinical and neuropsychological profile of two patients featuring autism disorder, intellectual disability, language impairment, and focal epilepsy, associated with previously unreported heterozygous de novo grin2a pathogenic variants. |
2022-02-26 |
2023-08-13 |
Not clear |
| Yukihiko Shirayama, Kazuki Matsumoto, Sayo Hamatani, Katsumasa Muneoka, Akihiro Okada, Koichi Sat. Associations among autistic traits, cognitive and affective empathy, and personality traits in adults with autism spectrum disorder and no intellectual disability. Scientific reports. vol 12. issue 1. 2022-02-25. PMID:35210528. |
associations among autistic traits, cognitive and affective empathy, and personality traits in adults with autism spectrum disorder and no intellectual disability. |
2022-02-25 |
2023-08-13 |
human |
| Jing Wang, Henning Fröhlich, Felipe Bodaleo Torres, Rangel Leal Silva, Gernot Poschet, Amit Agarwal, Gudrun A Rappol. Mitochondrial dysfunction and oxidative stress contribute to cognitive and motor impairment in FOXP1 syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 119. issue 8. 2022-02-15. PMID:35165191. |
foxp1 syndrome caused by haploinsufficiency of the forkhead box protein p1 (foxp1) gene is a neurodevelopmental disorder that manifests motor dysfunction, intellectual disability, autism, and language impairment. |
2022-02-15 |
2023-08-13 |
Not clear |
| Saloni Sharma, Brenna Hourigan, Zain Patel, Jill A Rosenfeld, Katie M Chan, Michael F Wangler, Joanna S Yi, Anna Lehman, Gabriella Horvath, Paul A Cloos, Qiumin Ta. Novel CIC variants identified in individuals with neurodevelopmental phenotypes. Human mutation. 2022-02-15. PMID:35165976. |
notably, we report for the first time a de novo frameshift variant specific to the long isoform of cic (cic-l, nm_001304815.1:c.1100dup, p.pro368alafster16) in an individual with speech delay, intellectual disability and autism spectrum disorder. |
2022-02-15 |
2023-08-13 |
Not clear |
| Simonas Griesius, Cian O'Donnell, Sophie Waldron, Kerrie L Thomas, Dominic M Dwyer, Lawrence S Wilkinson, Jeremy Hall, Emma S J Robinson, Jack R Mello. Reduced expression of the psychiatric risk gene DLG2 (PSD93) impairs hippocampal synaptic integration and plasticity. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2022-02-04. PMID:35115661. |
copy number variants indicating loss of function in the dlg2 gene have been associated with markedly increased risk for schizophrenia, autism spectrum disorder, and intellectual disability. |
2022-02-04 |
2023-08-13 |
rat |
| Tuğçe Aksu Uzunhan, Akif Aya. Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. Clinical neurology and neurosurgery. vol 214. 2022-02-01. PMID:35101781. |
humans have three nrxn genes (nrxn1, nrxn2, nrxn3) and heterozygous intragenic microdeletions involving nrxn1 have been associated with autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, and bipolar disorder. |
2022-02-01 |
2023-08-13 |
Not clear |
| Shuliweeh Alenezi, Ahmed Alyahya, Hesham Aldhalaa. Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) With Language Impairment Accompanied by Developmental Disability Caused by Forkhead Box Protein 1 (FOXP1) Exon Deletion: A Case Report. Cureus. vol 13. issue 12. 2022-02-01. PMID:35103171. |
in order to manage behavioral disturbance, risperidone was given, and she showed marked improvement. in this article, we report the characteristic features of attention deficits hyperactivity in addition to previously reported autism spectrum disorder with language impairment accompanied by intellectual disability caused by foxp1 exon deletion. |
2022-02-01 |
2023-08-13 |
human |
| Maryellen Brunson McClain, Megan E Golson, Laura E Murph. Executive functioning skills in early childhood children with autism, intellectual disability, and co-occurring autism and intellectual disability. Research in developmental disabilities. vol 122. 2022-01-18. PMID:35042182. |
executive functioning skills in early childhood children with autism, intellectual disability, and co-occurring autism and intellectual disability. |
2022-01-18 |
2023-08-13 |
Not clear |
| Maryellen Brunson McClain, Megan E Golson, Laura E Murph. Executive functioning skills in early childhood children with autism, intellectual disability, and co-occurring autism and intellectual disability. Research in developmental disabilities. vol 122. 2022-01-18. PMID:35042182. |
many children with autism and intellectual disability (id) experience executive functioning (ef) difficulties. |
2022-01-18 |
2023-08-13 |
Not clear |
| J Hofer, J Tillmann, J Salzmann, S Bölte, J Fellinger, D Holzinge. Screening for autism spectrum disorder in deaf adults with intellectual disability: Feasibility and accuracy of two autism screening instruments. Research in developmental disabilities. vol 122. 2022-01-08. PMID:34998116. |
there is a lack of autism screening instruments for deaf or hard of hearing (dhh) adults with intellectual disability. |
2022-01-08 |
2023-08-13 |
Not clear |
| Anouck Amestoy, Etienne Guillaud, Giulia Bucchioni, Tiziana Zalla, Daniel Umbricht, Christopher Chatham, Lorraine Murtagh, Josselin Houenou, Richard Delorme, Myriam Ly-Le Moal, Marion Leboyer, Manuel Bouvard, Jean-René Cazalet. Correction to: Visual attention and inhibitory control in children, teenagers and adults with autism without intellectual disability: results of oculomotor tasks from a 2-year longitudinal follow-up study (InFoR). Molecular autism. vol 13. issue 1. 2022-01-06. PMID:34986873. |
correction to: visual attention and inhibitory control in children, teenagers and adults with autism without intellectual disability: results of oculomotor tasks from a 2-year longitudinal follow-up study (infor). |
2022-01-06 |
2023-08-13 |
Not clear |
| Seong Woo Kim, Taemi Youk, Jiyong Ki. Maternal and Neonatal Risk Factors Affecting the Occurrence of Neurodevelopmental Disorders: A Population-Based Nationwide Study. Asia-Pacific journal of public health. 2021-12-22. PMID:34933590. |
increased maternal age was found to increase the risk of cerebral palsy (adjusted odds ratio [aor] = 1.46, 95% confidence interval [ci] [1.22, 1.75]) and autism spectrum disorder (aor = 1.48, 95% ci [1.25, 1.76]), while lowering the risk of intellectual disability (aor = 1.83, 95% ci [1.33, 2.53]) and speech and language impairment (aor = 1.41, 95% ci [1.08, 1.83]) compared with the reference group aged 25 to 29 years old. |
2021-12-22 |
2023-08-13 |
Not clear |