Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article by V. Kučinskas, E. Preikšaitienė, L. Ambrozaitytė, L. Cimbalistienė, A. Utkus

“… Intellectual disability affects about 1-2% of the general population worldwide, and this is the leading socio-economic problem of the healthcare system. …”
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Dalle politiche assistenziali alle social farms: note sul dare, ricevere e ricambiare nel sistema di welfare sulla disabilità by Stefano Onnis

“… In this article I correlate the concept of gift ‒ referring to Marcel Mauss and his theory of giving-receiving-reciprocating ‒ with three specific areas in the field of intellectual disability: voluntary associations, cooperatives of social services and social cooperatives that promote employment opportunities for people with intellectual disability. …”
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Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis by Fiona Whitaker, Alvaro Serrano

“…We report a case of DYRK1A-related intellectual disability syndrome caused by a novel mutation.…”
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A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry by Annelien Marcelis, Evelyne Van Reet

“…Kinesin family member 11 (KIF11)-associated disorder, a rare condition caused by autosomal dominant mutations in the KIF11 gene, presents with microcephaly, chorioretinal dysplasia, lymphoedema, and varying degrees of intellectual disability. While intellectual disability is often described in the literature on KIF11 mutations, autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are only mentioned by a few authors but not thoroughly investigated. …”
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Inclusively Designing for People in Human-Robot Collaboration. by Laurianne Sitbon, Saminda Balasuriya, Alicia Mitchell

“… This article offers the perspectives of adults with intellectual disability on how future trends, particularly in social robotics, but also in collaborative robotics, can be co-designed inclusively. …”
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A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation by Zahra Alsahlawi, Mohamed Jailani, Husain Alaradi, Abdulaziz AlAbbad

“…This patient also showed signs of intellectual disability and behavioral abnormalities such as night terrors. …”
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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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Une étude du rapport au savoir d’enfants scolarisés en IME dans le cadre d’un parcours artistique by Céline Salles, Florence Savournin

“…The Learning process and more specifically the language is affected by the limited symbolique capacities in children with intellectual disability. These children can manifest typical behaviour such as incapability, refusal, retreat or docility when faced with educational demands. …”
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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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Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome by Hannah M. Rea, Sara Jane Webb, Sara Jane Webb, Evangeline C. Kurtz-Nelson, Caitlin M. Hudac, Caitlin M. Hudac, Raphael A. Bernier, Conor Miles, Rachel Earl, Alana Whiting, Curtis Eayrs, Margaret Johansson, Tianyun Wang, Tianyun Wang, Tianyun Wang, Evan E. Eichler, Evan E. Eichler, Emily Neuhaus, Emily Neuhaus

“…Alterations to DYRK1A have been consistently associated with cognitive functioning and neurodevelopmental disorders (e.g., autism, intellectual disability). However, the broader cognitive and behavioral phenotype of DYRK1A syndrome requires further characterization. …”
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Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay by Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

“…Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance. …”
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Devenir « une belle jeune fille » : construction du genre dans les cours d’éducation sexuelle dispensés à des filles en situation de handicap by Sophie Torrent

“…The content of the discourses of the professionals during the classes taught to girls with an intellectual disability was analyzed through filmed lessons. …”
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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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Screening for creatine transporter deficiency in autism spectrum disorder: a pilot study by Arslan Mutluay, Yildiz Yılmaz, Olgaç Asburçe, Hekim Özlem, Yücel Çiğdem, Sertoğlu Erdim

“…X-linked creatine transporter deficiency is among the metabolic disorders which may present predominantly with features of ASD and intellectual disability. Here, we aimed to screen for creatine transporter deficiency in boys with ASD at a university hospital in Turkey.…”
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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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