Evolutionary constrained genes associated with autism spectrum disorder across 2,054 nonhuman primate genomes by Yukiko Kikuchi, Mohammed Uddin, Joris A. Veltman, Sara Wells, Christopher Morris, Marc Woodbury-Smith

“…Constraint was also observed across genes associated with intellectual disability (p = 1.1 × 10− 46), epilepsy (p = 2.1 × 10− 33) and schizophrenia (p = 4.2 × 10− 45), and for an overlapping neurodevelopmental gene set (p = 4.0 × 10− 10). …”
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A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

“…Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. The etiology of these genetic disorders remains unknown, which can partly be due to the lack of independently characterized antibodies. …”
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Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan by Nao Shibata, Chikahiko Numakura, Takashi Hamajima, Kenichi Miyako, Ikuma Fujiwara, Jun Mori, Akihiko Saitoh, Keisuke Nagasaki

“…One and two patients with IGSF1 variant had obesity and intellectual disability, respectively. Left amblyopia was identified in the patient with a TBL1X variant. …”
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Co-Occurrence of Rarest Type of Dysphagia Lusoria (Type N-1) and Eosinophilic Esophagitis in a Cognitively Disabled Individual by Kishore Kumar, Jasbir Makker, Hassan Tariq, Ariyo Ihimoyan, Chime Chukwunonso, Masooma Niazi, Michael Lombino, Muhammad Kamal, Harish K. Patel

“…A 31-year-old man with intellectual disability, cerebral palsy, previous history of feeding difficulty, and esophageal food impaction presented with esophageal foreign body impaction. …”
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Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia by Jessica Obst, Fabian N. Fries, Maryam Amini, Annamária Náray, Cristian Munteanu, Tanja Stachon, Shweta Suiwal, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry

“…Systemic diseases were detected in 155 of 337 (46%) patients, with the most common being obesity (29 [8.6%]), thyroid disease (28 [8.3%]), hypertension (26 [7.7%]), intellectual disability (22 [6.5%]), diabetes mellitus (19 [5.6%]), auditory perception disorder/speech development delay (16 [4.7%]), and epilepsy (12 [3.6%]). …”
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Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2 by Yan Long, Chenghan Wang, Jie Xiao, Yunhua Huang, Xiaoting Ling, Chaoyu Huang, Ying Chen, Jiaqi Luo, Rongheng Tang, Faquan Lin, Yifang Huang

“…Immunodeficiency, centromeric instability, and facial anomalies syndrome (ICF) is a rare genetic disease characterized by hypogammaglobulinemia, T cell immune deficiency with age, pericentromeric hypomethylation, facial abnormalities, and intellectual disability. This study aimed to investigate the phenotype and immune function of a girl with ICF2, identify her genetic defect, and explore the potential pathogenic mechanisms of the disease. …”
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Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

“…Purpose This study aims to elucidate the role of DNAJC12 in intellectual disability and explore the mechanisms by which DNAJC12 deficiency leads to hyperphenylalaninemia through developing a DNAJC12 gene knockout mouse model. …”
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CLN6‐related continuum phenotype caused by aberrant splicing by Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia

“…Plain Language Summary We report a patient with CLN6 disease who developed symptoms at an intermediate age: 9 years for mild intellectual disability and 14 years for occipital seizures and progressive myoclonus epilepsy, without visual impairment. …”
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Contextual Vulnerability Should Guide Fair Subject Selection in Xenotransplantation Clinical Trials by Gianna Strand

“…[xviii]  Wightman, A., et al., “Prevalence and Outcomes of Renal Transplantation in Children with Intellectual Disability,” Pediatric Transplantation 18, no. 7 (2014): 714-19.; Wightman, A., et al., “Prevalence and Outcomes of Liver Transplantation in Children with Intellectual Disability,” Journal of Pediatric Gastroenterology and Nutrition 62, no. 6 (2016): 808-12. …”
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Palliative Care for a Mentally Incompetent End Stage Renal Failure Patient: Why Is It Important? by Kwok-Ying Chan, Terence Yip, Mau-Kwong Sham, Benjamin Hon-Wai Cheng, Cho-Wing Li, Yim-Chi Wong, Vikki Wai-Kee Lau

“…People with intellectual disabilities are among the most disadvantaged groups in society. …”
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Rehabilitation Services and Disability in Buhara Sub-County Kabale District. by Orishaba, Joan

“…The study concluded that Persons with mild to moderate intellectual disabilities improved in terms of their activities of daily living. …”
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Ethnocultural Factor of Inclusive Education Development (by the Examples of the Russian Federation and Kyrgyz Republic) by M. A. Suchkov

“…It is shown that many parents in the north of Kyrgyzstan send their children, including children with disabilities, to study at Russian schools, and it causes additional barriers in learning, along with the barriers caused by physical and intellectual disabilities.…”
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Ableism-sensitive, self-reflective emotion work as part of inclusive teacher education by Mandy Hauser, Mandy Hauser

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Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes by D. Hettiarachchi, B. A. P. S. Pathirana, P. J. Kumarasiri, V. H. W. Dissanayake

“…These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe global developmental delay and intellectual disabilities.…”
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Emerging Roles of BAI Adhesion-GPCRs in Synapse Development and Plasticity by Joseph G. Duman, Yen-Kuei Tu, Kimberley F. Tolias

“…Abnormalities in synapse and spine formation and plasticity are associated with a broad range of brain disorders, including intellectual disabilities, autism spectrum disorders (ASD), and schizophrenia. …”
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Aging and Bone Health in Individuals with Developmental Disabilities by Joan Jasien, Caitlin M. Daimon, Stuart Maudsley, Bruce K. Shapiro, Bronwen Martin

“…Low bone mass density (BMD), a classical age-related health issue and a known health concern for fair skinned, thin, postmenopausal Caucasian women, is found to be common among individuals with developmental/intellectual disabilities (D/IDs). It is the consensus that BMD is decreased in both men and women with D/ID. …”
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Designing a Digital Flash Reading Test for Data-Based Decisions in Inclusive Classrooms: Duration and Word Length as Difficulty-Generating-Item Characteristics by Judith Zellner, Nikola Ebenbeck, Markus Gebhardt

“…To facilitate classroom-based reading diagnostics in this area of reading, we developed a flash reading test that reliably measures the performance of students with and without learning disabilities and intellectual disabilities. This test can be administered in the classroom and completed independently by students, taking only a few minutes, without requiring them to read aloud. …”
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Family strengthening, for all? by Silvia Eugenia Fernandez, Mariela González de Vicel

“…Women with disabilities, considered strangers to traditional hegemonic and patriarchal mandates, challenge the exercise of motherhood under criteria that are overvalued and demanded compared to women with psychosocial or intellectual disabilities. They challenge the prevailing mandate of hegemonic motherhood, which does not conceive of other designs for the exercise of the constitutional and conventional right to family life. …”
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Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome by Asma Deeb

“…It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. …”
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The role of non-governmental public associations in protecting the rights of persons with disabilities in Ukraine during the war by N. O. Filipska

“…The purpose of the study is to determine the role and place of public associations in the process of realizing and protecting the rights of persons with disabilities, in particular persons with mental disabilities (permanent psycho-intellectual disabilities), during the war period, as well as formulating recommendations for improving the state of observance of rights and freedoms this category of persons. …”
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