All Relations between Autism Spectrum Disorder and Intellectual Disability

Publication Sentence Publish Date Extraction Date Species
Majid Zaki-Dizaji, Mohammad Foad Abazari, Hossein Razzaghi, Irene Shkolnikov, Brian R Christi. GRM7 deficiency, from excitotoxicity and neuroinflammation to neurodegeneration: Systematic review of GRM7 deficient patients. Brain, behavior, & immunity - health. vol 39. 2024-07-10. PMID:38983774. it is encoded by grm7, and recently variants have been identified in patients with autism spectrum disorder (asd), attention deficit hyperactivity disorder (adhd), developmental delay (dd), intellectual disability (id), and brain malformations. 2024-07-10 2024-07-12 Not clear
Damek R Homiack, Lulu E Yan, Luke G Petry, Jenifer R Lloyd, Fedra Najjar, Edwin H Coo. Successful Electroconvulsive Therapy in a Patient With Catatonia and Maternal Duplication 15q11-13 Syndrome. The journal of ECT. 2024-07-05. PMID:38968439. in this case report, we describe the treatment course of a patient with established maternal dup 15q with comorbid intellectual disability, autism spectrum disorder, bipolar mood disorder, and juvenile epilepsy who developed hypokinetic catatonia refractory to high-dose benzodiazepine therapy. 2024-07-05 2024-07-08 Not clear
Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije E C Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A Rosenfeld, Seema R Lalani, Haley Streff, R Frank Kooy, Sarah Weckhuyse. Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes. European journal of human genetics : EJHG. 2024-07-04. PMID:38965372. our findings add additional evidence for leo1 as a risk gene for autism and intellectual disability. 2024-07-04 2024-07-11 Not clear
Cristina Peduto, Gerarda Cappuccio, Roberta Zeuli, Mariateresa Zanobio, Annalaura Torella, Fowzan S Alkuraya, Shelagh Joss, Cecilia Daolio, Alessandro Mauro Spinelli, Stefania Zampieri, Vincenzo Nigro, Nicola Brunetti-Pierr. Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. American journal of medical genetics. Part A. 2024-06-26. PMID:38924631. haploinsufficiency of foxp1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (id), autism spectrum disorder (asd), hypotonia, mild dysmorphic features, and multiple congenital anomalies. 2024-06-26 2024-06-29 Not clear
Yukiko Kuroda, Takeshi Uehara, Yumi Enomoto, Takuya Naruto, Nozomi Matsumura, Kenji Kurosaw. GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis. American journal of medical genetics. Part A. 2024-06-26. PMID:38923342. here, we report a 3-year-old male patient harboring a hemizygous variant in glypican 4 (gpc4), which causes keipert syndrome, who presented with complete lacrimal punctal agenesis, distinctive craniofacial features, mild developmental delay, mild intellectual disability, and autism. 2024-06-26 2024-06-29 Not clear
Josephine E Haddon, Daniel Titherage, Julia R Heckenast, Jennifer Carter, Michael J Owen, Jeremy Hall, Lawrence S Wilkinson, Matthew W Jone. Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility. Translational psychiatry. vol 14. issue 1. 2024-06-14. PMID:38876996. reduced dosage of cyfip1 is a risk factor for neuropsychiatric disorder, as evidenced by its involvement in the 15q11.2 (bp1-bp2) copy number variant: deletion carriers are haploinsufficient for cyfip1 and exhibit a two- to four-fold increased risk of schizophrenia, autism and/or intellectual disability. 2024-06-14 2024-06-17 rat
Laura Simões de Oliveira, Heather E O'Leary, Sarfaraz Nawaz, Rita Loureiro, Elizabeth C Davenport, Paul Baxter, Susana R Louros, Owen Dando, Emma Perkins, Julien Peltier, Matthias Trost, Emily K Osterweil, Giles E Hardingham, Michael A Cousin, Sumantra Chattarji, Sam A Booker, Tim A Benke, David J A Wyllie, Peter C Kin. Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder. Molecular autism. vol 15. issue 1. 2024-06-14. PMID:38877552. mutations in the x-linked gene cyclin-dependent kinase-like 5 (cdkl5) cause a severe neurological disorder characterised by early-onset epileptic seizures, autism and intellectual disability (id). 2024-06-14 2024-06-17 rat
Claire Ward, Kaoutsar Nasrallah, Duy Tran, Ehsan Sabri, Arenski Vazquez, Lucas Sjulson, Pablo E Castillo, Renata Batista-Brit. Developmental Disruption of Mef2c in Medial Ganglionic Eminence-derived cortical inhibitory interneurons impairs cellular and circuit function. Biological psychiatry. 2024-06-07. PMID:38848814. mef2c is strongly linked to various neurodevelopmental disorders (ndds) including autism, intellectual disability, schizophrenia, and attention-deficit/hyperactivity. 2024-06-07 2024-06-10 mouse
Olivier Dionne, Armita Abolghasemi, François Corbin, Artuela Çak. Implication of the endocannabidiome and metabolic pathways in fragile X syndrome pathophysiology. Psychiatry research. vol 337. 2024-05-19. PMID:38763080. fragile x syndrome (fxs) results from the silencing of the fmr1 gene and is the most prevalent inherited cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorder. 2024-05-19 2024-05-27 Not clear
S D'Antoni, M Spatuzza, C M Bonaccorso, M V Catani. Role of Fragile X Messenger Ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective. Neuroscience and biobehavioral reviews. 2024-05-19. PMID:38763180. mutations in the fmr1 gene encoding fmrp are responsible for fragile x syndrome (fxs), a leading genetic cause of intellectual disability and autism spectrum disorder, and fragile x-associated tremor-ataxia syndrome (fxtas), a neurodegenerative disorder in aging men. 2024-05-19 2024-05-27 Not clear
Dana T Byrd, Ziyuan Christina Han, Christopher A Piggott, Yishi Ji. PACS-1 variant protein is aberrantly localized in bioRxiv : the preprint server for biology. 2024-05-16. PMID:38712144. pacs1, pacs2, and wdr37 variants are associated with multisystemic syndromes and neurodevelopmental disorders characterized by intellectual disability, seizures, developmental delays, craniofacial abnormalities, and autism spectrum disorder. 2024-05-16 2024-05-27 Not clear
Seth Simpson, Kelli C Dominick, Craig A Erickson, Martine Lam. Safety and Efficacy of Paliperidone Palmitate in Pediatric Patients with Autism and Intellectual Disability. Journal of autism and developmental disorders. 2024-05-13. PMID:38740696. safety and efficacy of paliperidone palmitate in pediatric patients with autism and intellectual disability. 2024-05-13 2024-05-27 Not clear
Seth Simpson, Kelli C Dominick, Craig A Erickson, Martine Lam. Safety and Efficacy of Paliperidone Palmitate in Pediatric Patients with Autism and Intellectual Disability. Journal of autism and developmental disorders. 2024-05-13. PMID:38740696. this retrospective chart review examines the safety, tolerability and effectiveness of long acting injectable paliperidone palmitate (p-lai) targeting irritability in twenty-six youth and transition-aged individuals with autism spectrum disorder (asd) and/or intellectual disability (id) over a 3-year window. 2024-05-13 2024-05-27 Not clear
Rajan K C, Alina S Tiemroth, Abbigail N Thurmon, Stryder M Meadows, Maria J Galaz. Zmiz1 is a novel regulator of brain development associated with autism and intellectual disability. Frontiers in psychiatry. vol 15. 2024-05-01. PMID:38686122. zmiz1 is a novel regulator of brain development associated with autism and intellectual disability. 2024-05-01 2024-05-03 Not clear
Aloïse Mabondzo, Jiddeke van de Kamp, Saadet Mercimek-Andrew. Dodecyl creatine ester therapy: from promise to reality. Cellular and molecular life sciences : CMLS. vol 81. issue 1. 2024-04-17. PMID:38632116. pathogenic variants in slc6a8, the gene which encodes creatine transporter slc6a8, prevent creatine uptake in the brain and result in a variable degree of intellectual disability, behavioral disorders (e.g., autism spectrum disorder), epilepsy, and severe speech and language delay. 2024-04-17 2024-04-20 Not clear
Fabian Heim, Constance Scharff, Simon E Fisher, Katharina Riebel, Carel Ten Cat. Auditory discrimination learning and acoustic cue weighing in female zebra finches with localised FoxP1 knockdowns. Journal of neurophysiology. 2024-04-17. PMID:38629163. rare disruptions of the transcription factor foxp1 are implicated in a human neurodevelopmental disorder characterised by autism and/or intellectual disability with prominent problems in speech and language abilities. 2024-04-17 2024-04-19 human
Sadhna Rao, Anastasiia Sadybekov, David C DeWitt, Joanna Lipka, Vsevolod Katritch, Bruce E Herrin. Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach. Molecular autism. vol 15. issue 1. 2024-04-02. PMID:38566250. glutamatergic synapse dysfunction is believed to underlie the development of autism spectrum disorder (asd) and intellectual disability (id) in many individuals. 2024-04-02 2024-04-05 Not clear
Maike F Dohrn, Guney Bademci, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja, Danique Beijer, Matt C Danzi, Stephanie A Bivona, Paul Gueguen, Mohammad F Zafeer, Mustafa Tekin, Stephan Züchne. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Annals of clinical and translational neurology. 2024-03-20. PMID:38504481. recurrent atp1a1 variant gly903arg causes developmental delay, intellectual disability, and autism. 2024-03-20 2024-03-23 Not clear
Lin-Yu Li, Ayako Imai, Hironori Izumi, Ran Inoue, Yumie Koshidaka, Keizo Takao, Hisashi Mori, Tomoyuki Yoshid. Differential contribution of canonical and noncanonical NLGN3 pathways to early social development and memory performance. Molecular brain. vol 17. issue 1. 2024-03-13. PMID:38475840. although, nlgn3 gene is known as a risk gene for neurodevelopmental disorders such as autism spectrum disorder (asd) and intellectual disability (id), the pathogenic contribution of the canonical nlgn3-nrxn and noncanonical nlgn3-ptpδ pathways to these disorders remains elusive. 2024-03-13 2024-03-15 mouse
Alison Garber, Lisa S Weingarten, Nicolas J Abreu, Houda Zghal Elloumi, Tobias Haack, Clara Hildebrant, Núria Martínez-Gil, Jennifer Mathews, Amelie Johanna Müller, Irene Valenzuela Palafoll, Connolly Steigerwald, Wendy K Chun. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. American journal of medical genetics. Part A. 2024-03-01. PMID:38425142. rare variants in fezf2 have previously been suggested to play a role in autism, and cases of 3p14 microdeletions that include fezf2 share a neurodevelopmental phenotype including mild dysmorphic features and intellectual disability. 2024-03-01 2024-03-03 Not clear