A Report on a Family with TMTC3-Related Syndrome and Review by Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane

“…Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. …”
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A systematic review and meta-analysis of prevalence of seven psychiatric disorders in India by Vikas Dhiman, Geetha R. Menon, Rajnarayan R. Tiwari

“…Results: A total of 79 studies were included: depression (n = 28), AUD (n = 14), AD (n = 12), intellectual disability (n = 8), suicidal attempt/death (n = 7), autism (n = 6) and BD (n = 4). …”
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A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. …”
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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing by Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen

“…Abstract To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. …”
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics by Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita

“…A patient with an approximately 0.3 Mb loss, which included the entire APC gene, presented a polyposis phenotype without intellectual disability. The comparison of genetic losses, with or without intellectual disability, revealed 7 genetic changes. …”
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Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children by Rathika Damodara Shenoy, Vijaya Shenoy, Vikram Shetty

“…All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism. Emanuel syndrome or supernumerary der (22)t(11; 22), the prototype of complex small supernumerary marker disorders, was seen in one child. …”
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A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation by Ana Isabel Sánchez, Jorge Armando Rojas

“…The most important characteristics include intellectual disability, peculiar facial features including sparse scalp hair, coarse facial features, low frontal hairline, and microcephaly, and seizures. …”
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Sturge–Weber Syndrome with Bilateral Port-Wine Stain by Bishnu Deep Pathak, Shriya Sharma, Aakriti Adhikari, Nabin Simkhada, Bhuwan Ghimire, Nirjala Aryal

“…Here, we describe a case of four years seven months female with seizures, developmental delay, intellectual disability, and bilateral port-wine stain diagnosed as type I (classical) Sturge–Weber syndrome. …”
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Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review by Val Bellman, Zargham Abbass, Ramsa Sohail, Syed Jafri

“…Although PWS is associated with mild intellectual disability, which in itself confers a higher mortality rate, suicidality in this population is so far unreported in the literature. …”
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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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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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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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