An unstable variant of GAP43 leads to neurodevelopmental deficiency by Mariko Noda, Ayumi Matsumoto, Hidenori Ito, Masayo Kagami, Toshihiro Tajima, Takayoshi Matsumura, Takanori Yamagata, Koh-ichi Nagata

“…We performed whole exome sequencing on a patient with intellectual disability (ID), neurodevelopmental disorders, short stature, and skeletal abnormalities such as left–right difference in legs and digital deformities, and identified a heterozygous missense variation in the GAP43 gene [NM_001130064.2: c.436G > A/p.…”
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Klinefelter syndrome diagnosed at autopsy and small-cell lung carcinoma by Haruyasu Sakuranaka, Ryoma Tanaka, Yuji Yamakawa, Shiho Yamada, Komei Igei, Yasuo Asai

“…Klinefelter syndrome is characterized by endocrine abnormalities, gynecomastia, female-like body shape, and mild intellectual disability. However, the diagnosis of Klinefelter syndrome is often missed due to the lack of characteristic findings. …”
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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

“…Abstract Background Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. …”
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Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary cen... by Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed

“…If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. …”
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Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus by Carlotta Spagnoli, Roberta Battini, Filippo Manti, Duccio Maria Cordelli, Andrea Pession, Melissa Bellini, Andrea Bordugo, Gaetano Cantalupo, Antonella Riva, Pasquale Striano, Marco Spada, Francesco Porta, Carlo Fusco

“…The following statements reached the highest priority: testing pediatric patients with hypotonia, developmental delay, movement disorders, and oculogyric crises; inclusion of 3-OMD dosing on DBS in neonatal screening programs; development of a clinical score to support patients’ selection for 3-OMD screening; among atypical phenotypes based on clinical characteristics of Italian patients: testing patients with intellectual disability and parkinsonism-dystonia. Discussion. …”
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Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson

“…A wide range of clinical findings have been associated with mutations in Syntaxin Binding Protein 1 (STXBP1), including multiple forms of epilepsy, nonsyndromic intellectual disability, and movement disorders. STXBP1 mutations have recently been associated with mitochondrial pathology, although it remains unclear if this phenotype is a part of the core feature for this gene disorder. …”
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Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm by Mariangela Cisternino, Erika Della Mina, Laura Losa, Alexandra Madè, Giulia Rossetti, Lorenzo Andrea Bassi, Giovanni Pieri, Baran Bayindir, Jole Messa, Orsetta Zuffardi, Roberto Ciccone

“…We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)(p23-pter). …”
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The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders by Sean D. Fraser, Sean D. Fraser, Robert J. Harvey, Robert J. Harvey

“…Consistent with these findings, we and others have identified missense variants and microdeletions in the human GlyR α2 subunit gene (GLRA2) in individuals with autism spectrum disorder (ASD), developmental delay (DD) and/or intellectual disability (ID), often accompanied by microcephaly, language delay and epilepsy. …”
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Students’ Perspectives on Learning Practical Nursing Skills: A Focus Group Study in Norway by A. G. Gregersen, M. T. Hansen, S. E. A. Brynhildsen, V. A. Grøndahl, A. C. Leonardsen

“…Three focus group interviews were conducted with registered nurse students and intellectual disability nurse students in their last semester (n = 11). …”
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Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams–Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the... by Tetsutaro Yamaguchi, Tatsuo Shirota, Mohamed Adel, Masahiro Takahashi, Shugo Haga, Ryo Nagahama, Misato Nakashima, Mayu Furuhata, Takaaki Kamatani, Koutaro Maki

“…WBS patients have characteristic skeletal features and dental anomalies accompanied by mental retardation, a friendly outgoing personality, and mild to moderate intellectual disability or learning problems. In this case report, we present the combined orthodontic and surgical treatment of a WBS patient with an isolated cleft palate through a long-term follow-up from the age of 5 to 24 years. …”
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RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis by Qian Liu, Feifei Li, Qin Ruan, Nana Wang, Zhengjun Fan

“…Variants in the Rho‐related BTB domain‐containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early‐onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. …”
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A case report of exacerbation of extrapyramidal symptoms following the switch from risperidone to paliperidone during valproate therapy by Emi Hata, Masatoshi Miyauchi, Nobuhiko Noguchi, Takeshi Asami

“…We report a case of a 48-year-old Japanese male with epilepsy-associated psychosis and mild intellectual disability who experienced severe EPS during a gradual cross-titration from risperidone to paliperidone while on valproate therapy. …”
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Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners by Leroy Bondhus, Aileen A. Nava, Isabelle S. Liu, Valerie A. Arboleda

“…Additionally, we assessed the specificity of their expression profiles and showed epigenes are more ubiquitously expressed consistent with their enrichment in pediatric syndromes with intellectual disability, multiorgan dysfunction, and developmental delay. …”
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Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder by Claudia Fuchs, Laura Gennaccaro, Stefania Trazzi, Stefano Bastianini, Simone Bettini, Viviana Lo Martire, Elisa Ren, Giorgio Medici, Giovanna Zoccoli, Roberto Rimondini, Elisabetta Ciani

“…CDKL5 disorder primarily affects girls and is characterized by early-onset epileptic seizures, gross motor impairment, intellectual disability, and autistic features. Although all CDKL5 female patients are heterozygous, the most valid disease-related model, the heterozygous female Cdkl5 knockout (Cdkl5 +/−) mouse, has been little characterized. …”
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Syngap1 promotes cognitive function through regulation of cortical sensorimotor dynamics by Thomas Vaissiere, Sheldon D. Michaelson, Thomas Creson, Jessie Goins, Daniel Fürth, Diana Balazsfi, Camilo Rojas, Randall Golovin, Konstantinos Meletis, Courtney A. Miller, Daniel O’Connor, Lorenzo Fontolan, Gavin Rumbaugh

“…Here, we demonstrate in mice that expression of the autism/intellectual disability gene, Syngap1, in cortical excitatory neurons is required for the formation of somatomotor networks that promote SMI-mediated perception. …”
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Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study by Romina Romaniello, Sabrina Signorini, Elena Ballante, Valentina Franco, Valentina De Giorgis, Ludovica Pasca, Guido Catalano, Federica Morelli, Carlo Alberto Quaranta, Helene Vitali, Francesca Dattrino, Francesca Crema, Paola Rota, Costanza Varesio

“…Introduction Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions and reduced sleep efficiency. …”
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Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria by Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne, Eresha Jasinge

“…Among the 14 patients, the common clinical features were ectopia lentis (100%), intellectual disability (92%) and marfanoid features (78%) at presentation while three of them had developed osteoporosis (21%). …”
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A case of 49,XXXYY followed-up from infancy to adulthood with review of literature by Junko Kanno, Akinobu Miura, Sayaka Kawashima, Hirohito Shima, Dai Suzuki, Miki Kamimura, Ikuma Fujiwara, Masayuki Kamimura, Mitsugu Uematsu, Masataka Kudo, Atsuo Kikuchi

“…Subsequent examinations were conducted due to various symptoms, including delayed motor development, intellectual disability, facial dysmorphisms, forearm deformities, hip dysplasia, cryptorchidism, micropenis, primary hypogonadism, and essential tremor. …”
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Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures by Caitlin C. Clements, Anne-Michelle Engelstad, Carol L. Wilkinson, Carly Hyde, Megan Hartney, Alexandra Simmons, Helen Tager-Flusberg, Shafali Jeste, Charles A. Nelson

“…TSC manifests behaviorally with features of autism, epilepsy, and intellectual disability. Resting state electroencephalography (EEG) offers a window into neural oscillatory activity and may serve as an intermediate biomarker between gene expression and behavioral manifestations. …”
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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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