Identifying State Resources and Support Programs on E-Government Websites for Persons with Intellectual and Developmental Disabilities by Kathleen M. Fisher, Justin D. Peterson, Jon D. Albert

“…This descriptive cross-sectional study identified resources and programs that are available nationwide on the Internet to support individuals and families with intellectual and developmental disabilities (I/DD), with a focus on intellectual disability. This evaluation included easily identifiable information on specific resources and highlighted unique programs found in individual states that were linked from e-government websites. …”
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Airway approach in a pediatric patient with Noonan syndrome. Presentation of a case by Dayane García Jiménez, Rolando Javier Álvarez Pérez, Robin Fajardo Alcalá, Ivanis Idael Corría Milán

“…A 13-year-old male patient was presented with a personal pathological history of Noonan syndrome genotype PTPN11, hypothyroidism, mild intellectual disability who attended the Surgical Guard Corps due to abdominal pain of 16 hours duration. …”
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Atypical Presentation of Sjögren-Larsson Syndrome by D. Papathemeli, A. Mataftsi, A. Patsatsi, D. Sotiriadis, M. Samouilidou, S. Chondromatidou, A. Evangeliou

“…Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). …”
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Inherited glycosylphosphatidylinositol deficiency disorders: a new group of inherited metabolic disorders by Michał Patalan, Alicja Leśniak, Justyna Paprocka, Agnieszka Zubkiewicz-Kucharska, Kaja Giżewska-Kacprzak, Marta Glińska, Lidia Babiak-Choroszczak, Maria Giżewska, Robert Śmigiel

“…Patients present a variety of symptoms including developmental delay with intellectual disability, abnormalities of the central nervous, skeletal, circulatory, gastrointestinal, and urinary systems, facial dysmorphia as well as hearing and visual impairment. …”
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Case report: Kabuki syndrome and persistent hypoglycemia in neonates by Osama Y Safdar, Miral M Abddulghfar, Renad N Saaty, Zahrah Bernawi, Reem Babteen, Osama M Felemban

“…It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities. …”
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Duchenne muscular dystrophy: recent insights in brain related comorbidities by Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos Hendriksen, Konstantina Tetorou, Aurelie Goyenvalle, Francesco Muntoni

“…Their deficiency contributes to comorbidities, including intellectual disability ( ~ 22% of patients), autism ( ~ 6%) and attention deficit disorders ( ~ 18%), representing a major unmet need for patients and families. …”
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Case Report: A case of Tatton-Brown–Rahman syndrome featuring mitral annular disjunction and mitral valve prolapse due to a novel mutation site in the DNMT3A gene by Zhong-jiao Xu, Ru-ming Shen, Wu-ming Hu, Lin-chun Lv, Zhen-hua Shi, Li Lin

“…A 13-year-old child presented with specific facial features, overgrowth, and intellectual disability. Echocardiography revealed the presence of a large pericardial effusion, left ventricular enlargement, mitral annular separation, and mitral valve prolapse with moderate regurgitation. …”
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Dysmorphological Delineation of Orofaciodigital Syndrome Type I. Presentation of a Case and Literature Review by Noel Taboada Lugo, Ana María Rodríguez Díaz, Tairí Borges García

“…The case of a seven-year-old patient with a history of delayed psychomotor development and moderate intellectual disability is presented, in which a dysmorphic pattern was found due to thin and sparse hair, hypotrichosis with alopecic areas, bilateral epicanthal fold, pseudohypertelorism due to the presence of telecanthus, severe dental malpositions, transverse micrognathism, as well as other anomalies. …”
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The WAVE complex in developmental and adulthood brain disorders by Hyung-Goo Kim, Clara Berdasco, Angus C. Nairn, Yong Kim

“…De novo mutations in WAVE genes and other components of the WAVE complex have been identified in patients with developmental disorders such as intellectual disability, epileptic seizures, schizophrenia, and/or autism spectrum disorder. …”
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A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder by Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park

“…MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism. …”
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Targeted correction of megabase-scale CNTN6 duplication in induced pluripotent stem cells and impacts on gene expression by Maria Gridina, Polina Orlova, Oleg Serov

“…Copy number variations of the human CNTN6 gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. However, duplication of the full-length human CNTN6 gene presents with variable penetrance, resulting in phenotypes that range from neurodevelopmental disorders to no visible pathologies, even within the same family. …”
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Clinical profile and predictors of recurrence of first episode of unprovoked seizures in children of the age group 1 month to 12 years by Ambili Susan Jacob, Urmila K.V

“…Significant predictors of recurrence included seizures occurring during sleep, a history of neurological insults, developmental delay or intellectual disability, and abnormal EEG or neuroimaging findings. …”
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SPEECH PRODUCTION IN ENGLISH BY STUDENTS WITH HEARING IMPAIRMENT: AN ACOUSTIC PHONETIC APPROACH by Diana Anggraeni, Donal Fernado Lubis

“…Experimental observation using the Praat voice analyzer was carried out on students with three types of disabilities: students with vision impairment, hearing impaired, and mental or intellectual disability. The observation results showed that students with hearing impairments (partial and total deafness) were the main concern as their abilities in perceiving and producing speech gave them opportunities to communicate in English despite the barriers, they had to face in pronouncing the words. …”
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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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Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency by Riley Hall, Tim Sikora, Annabelle Suter, Jia Yi Kuah, John Christodoulou, Nicole J Van Bergen

“…Patients present with severe progressive neurological symptoms including seizures, microcephaly, intellectual disability and facial dysmorphism. We have generated stem cells from fibroblasts of two individuals with the same homozygous TRAPPC4 c.454 + 3A > G pathogenic variant and used CRISPR/Cas9 editing to generate heterozygous gene-corrected isogenic controls. …”
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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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