Dental Treatment of a Child with Pallister-Killian Syndrome by Serhan Didinen, Didem Atabek, Gülay Kip, Aslı Patır Münevveroğlu, Özlem Tulunoğlu

“…It has been learned that the PKS was diagnosed 1 year after birth. Due to intellectual disability, it was decided to make the dental treatments under moderate sedation. …”
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INFLUENCE OF THE CONSUMPTION OF CARBONATED BEVERAGES IN THE PREVALENCE OF DENTAL EROSION IN YOUNG BASKETBALL PLAYERS by Vladimir Lara A, Maria José Jarrin, Olivia Toalombo, Alex Carrera, Dourado Logersio Alessandro, Ana del Carmen Armas

“…Materials and methods: a cross-sectional study is proposed in a population of 60 basketball players aged 8 to 18 years, who perform physical activity more than 3 times a week and who consume energy drinks more than 3 times a week, without syndromes or systemic disease neither physical or intellectual disability. The participants were examined clinically by a single examiner regarding their upper anterior teeth through BEWE tooth erosion index and also by a questionnaire on knowledge and consumption of acidic beverages. …”
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Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome by Fei Gao, Lijun Qi, Zhongzhen Yang, Tao Yang, Yan Zhang, Hui Xu, Huan Zhao

“…Patients present neuronal alterations that lead to severe intellectual disability and altered sleep rhythms. However, the neural circuit mechanisms underlying FXS remain unclear. …”
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Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. …”
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Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant by Moemi Hojo, Noriko Soma, Kei Yamada, Yu Kobayashi, Masaki Miura, Hitomi Fujii, Hiromi Nyuzuki, Yosuke Nishio, Taichi Oso, Tomoo Ogi, Takeshi Ikeuchi, Jun Tohyama

“…Abstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized by mild to severe developmental delay, intellectual disability, failure to thrive, muscle tone abnormalities, and dysmorphic facial features. …”
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Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism by Ivan Y. Iourov, Svetlana G. Vorsanova, Maria A. Zelenova, Sergei A. Korostelev, Yuri B. Yurov

“…Here, we have evaluated genomic copy number variation (CNV) in genes implicated in the cell cycle pathway (according to Kyoto Encyclopedia of Genes and Genomes/KEGG) within a cohort of patients with intellectual disability, autism, and/or epilepsy, in which the phenotype was not associated with genomic rearrangements altering this pathway. …”
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Snoezelen or Controlled Multisensory Stimulation. Treatment Aspects from Israel by Joav Merrick, Carmit Cahana, Meir Lotan, Isack Kandel, Eli Carmeli

“…In Israel today, with a total population of over 6 million persons, the Division for Mental Retardation (DMR) provides services to 23,000 persons with intellectual disability (ID). Of the 23,000, residential services are provided to more than 6,000 in close to 60 residential centers, another 2,000 are provided residential care in hostels or group homes in the community in about 50 locations, while the rest are served with day-care kindergarten, day-treatment centers, sheltered workshops, or integrated care in the community. …”
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Systemic Comorbidity in Children with Cataracts in Nigeria: Advocacy for Rubella Immunization by Roseline Duke, Sidney Oparah, Adedayo Adio, Okon Eyo, Friday Odey

“…Cardiac disease was seen in 26 children (39.9%), followed by delayed milestone in 16 (24.2%), intellectual disability in 14 (21.2%), deafness in 11 (16.7%), epilepsy in 4 (6.1%), and physical handicap in 3 (4.5%) of them. …”
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Ciprofloxacin and Clozapine: A Potentially Fatal but Underappreciated Interaction by Jonathan M. Meyer, George Proctor, Michael A. Cummings, Laura J. Dardashti, Stephen M. Stahl

“…We report the case of a 28-year-old nonsmoking female with intellectual disability who was maintained for 3 years on clozapine 100 mg orally twice daily. …”
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SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities by Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M. Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann

“…SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. …”
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Transient Ischemic Attack and Ischemic Stroke in Danon Disease with Formation of Left Ventricular Apical Thrombus despite Normal Systolic Function by Takeshi Tsuda, Amanda J. Shillingford, Jane Vetter, Vinay Kandula, Badal Jain, Joel Temple

“…Danon disease is a rare X-linked dominant skeletal and cardiac muscle disorder presenting with hypertrophic cardiomyopathy, Wolf-Parkinson-White syndrome, skeletal myopathy, and mild intellectual disability. Early morbidity and mortality due to heart failure or sudden death are known in Danon disease, more in males than in females. …”
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Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia by Rolanda A. Maxim, Samuel H. Zinner, Hisako Matsuo, Theresa M. Prosser, Mary Fete, Terry L. Leet, Timothy J. Fete

“…Estimates of up to 50% of affected children having intellectual disability are controversial. Method. In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years) and 59 matched unaffected controls (70% males, mean age 9.79 years) were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. …”
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Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features by Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler

“…We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance. …”
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Characteristic craniofacial defects associated with a novel USP9X truncation mutation by Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro

“…Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. …”
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ADATs: roles in tRNA editing and relevance to disease by Mao Xue-Ling, Eriani Gilbert, Zhou Xiao-Long

“…This review provides detailed information on A-to-I and C-to-U editing of tRNAs in different domains of life, presents recent new findings on ADATs for DNA editing, and finally comments on the association of mutations in the ADAT3 gene with intellectual disability.…”
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Potential Role of JAK-STAT Signaling Pathway in the Neurogenic-to-Gliogenic Shift in Down Syndrome Brain by Han-Chung Lee, Kai-Leng Tan, Pike-See Cheah, King-Hwa Ling

“…Trisomy of human chromosome 21 in Down syndrome (DS) leads to several phenotypes, such as mild-to-severe intellectual disability, hypotonia, and craniofacial dysmorphisms. …”
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Mental health morbidities in Kerala, India: Insights from National Mental Health Survey, 2015–2016 by Sonakshi Jyrwa, T. M. Shibukumar, Jayakrishnan Thavody, P. K. Anish, Thomas Bina, K.R. Rajith, Pradeep S. Banandur, Girish N. Rao, Gopalkrishna Gururaj, Mathew Varghese, Vivek Benegal

“…The instruments used in the survey included M.I.N.I adult version 6.0, a modified version of the Fagerström Nicotine Dependence Scale and questionnaires to screen for epilepsy, intellectual disability, and autism spectrum disorders. Results: A total of 2479 respondents aged >18 years were interviewed. …”
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Determination of damaging SNP’s in SHANK3 gene with in silico methods by İrem Gülfem Albayrak, Şeyma Yektar, Süeda Kaya

“…The SHANK3 gene has a significant role in autism spectrum disorder; mutations in this gene are seen in roughly 1–2% of patients with both autism and intellectual disability. This genetic association provides insight concerning SHANK3's potential significance in the disorder's development. …”
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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon

“…Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. …”
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Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients by Olga R. Ismagilova, Tagui A. Adyan, Tagui A. Adyan, Tatiana S. Beskorovainaya, Alexander V. Polyakov

“…IntroductionRubinstein–Taybi syndrome (RSTS) is one of the many forms of syndromic intellectual disability, occurring in the population with a frequency of 1: 100–125 thousand newborns. …”
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