| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Frances St George-Hyslop, Moritz Haneklaus, Toomas Kivisild, Frederick J Livese. Loss of CNTNAP2 alters human cortical excitatory neuron differentiation and neural network development. Biological psychiatry. 2023-03-31. PMID:37001843. |
loss-of-function mutations in the contactin-associated protein-like 2 (cntnap2) gene are causal for neurodevelopmental disorders, including autism, schizophrenia, epilepsy and intellectual disability. |
2023-03-31 |
2023-08-14 |
human |
| James Rooney, Rebecca Hodge, Jade Smith, Kelly Vanstone, Richard Laugharne, Rohit Shanka. Survey of parents of children with intellectual disabilities and/or autism who experience chronic constipation. Journal of applied research in intellectual disabilities : JARID. 2023-03-30. PMID:36994540. |
this study looks to understand parental knowledge, attitudes and management practices towards constipation in children with intellectual disabilities and/or autism. |
2023-03-30 |
2023-08-14 |
Not clear |
| Jarrett Fastman, Alexander Kolevzo. ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges. Children (Basel, Switzerland). vol 10. issue 3. 2023-03-29. PMID:36980151. |
adnp syndrome is a neurodevelopmental disorder characterized by autism spectrum disorder (asd), intellectual disability, sensory reactivity symptoms, facial dysmorphisms, and a wide variety of other physical and behavioral health manifestations. |
2023-03-29 |
2023-08-14 |
Not clear |
| Gema P Sáez-Suanes, Domingo García-Villamisar, Araceli Del Pozo Armenti. The role of intellectual disability and emotional regulation in the autism-depression relationship. Autism : the international journal of research and practice. 2023-03-27. PMID:36967538. |
emotion regulation is associated with depression in autism spectrum disorder and intellectual disability. |
2023-03-27 |
2023-08-14 |
Not clear |
| Gema P Sáez-Suanes, Domingo García-Villamisar, Araceli Del Pozo Armenti. The role of intellectual disability and emotional regulation in the autism-depression relationship. Autism : the international journal of research and practice. 2023-03-27. PMID:36967538. |
after evaluating a group of people with autism and intellectual disability, we found that people with mild intellectual disability have problems regulating their emotions which lead them to develop depressive symptoms. |
2023-03-27 |
2023-08-14 |
Not clear |
| Gema P Sáez-Suanes, Domingo García-Villamisar, Araceli Del Pozo Armenti. The role of intellectual disability and emotional regulation in the autism-depression relationship. Autism : the international journal of research and practice. 2023-03-27. PMID:36967538. |
these findings suggest that interventions designed to prevent or reduce depressive symptoms in people with autism spectrum disorder and mild intellectual disability should include among their goals emotional regulation. |
2023-03-27 |
2023-08-14 |
Not clear |
| Christopher J Handwerk, Collin J Denzler, Anna R Kalinowski, Hollyn N Cook, Hilda V Rodriguez, Katherine M Bland, Cooper A Brett, Brian D Swinehart, Elizabeth C Vinson, George S Vida. Integrin β3 regulates apical dendritic morphology of pyramidal neurons throughout hippocampal CA3. Hippocampus. 2023-03-27. PMID:36967540. |
however, it is unknown what role itgb3 could have in regulating hippocampal pyramidal dendritic morphology in vivo, a key feature that is aberrant in many forms of autism and intellectual disability. |
2023-03-27 |
2023-08-14 |
Not clear |
| Runwei Yang, Xinran Feng, Alejandra Arias-Cavieres, Robin M Mitchell, Ashleigh Polo, Kaining Hu, Rong Zhong, Cai Qi, Rachel S Zhang, Nathaniel Westneat, Cristabel A Portillo, Marcelo A Nobrega, Christian Hansel, Alfredo J Garcia Iii, Xiaochang Zhan. Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing. Neuron. 2023-03-14. PMID:36917980. |
the ras gtpase-activating protein syngap1 plays a central role in synaptic plasticity, and de novo syngap1 mutations are among the most frequent causes of autism and intellectual disability. |
2023-03-14 |
2023-08-14 |
mouse |
| Diana C Beard, Xiyun Zhang, Dennis Y Wu, Jenna R Martin, Nicole Hamagami, Raylynn G Swift, Katherine B McCullough, Xia Ge, Austin Bell-Hensley, Hongjun Zheng, Austin B Lawrence, Cheryl A Hill, Thomas Papouin, Audrey McAlinden, Joel R Garbow, Joseph D Dougherty, Susan E Maloney, Harrison W Gabe. Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits. bioRxiv : the preprint server for biology. 2023-03-13. PMID:36909558. |
here, we investigate missense mutations in the dna methyltransferase dnmt3a associated with variable overgrowth, intellectual disability, and autism, to uncover molecular correlates of phenotypic heterogeneity in neurodevelopmental disease. |
2023-03-13 |
2023-08-14 |
mouse |
| Reem Jada, Veronika Borisov, Eliezer Laury, Shmuel Halpert, Nina S Levy, Shlomo Wagner, Shai Netser, Randall Walikonis, Ido Carmi, Shai Berlin, Andrew P Lev. Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction. International journal of molecular sciences. vol 24. issue 4. 2023-02-25. PMID:36835332. |
pathological mutations in the iqsec2 gene are frequently seen in children presenting with intellectual disability, autism and epilepsy. |
2023-02-25 |
2023-08-14 |
mouse |
| Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, François G Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodríguez-Pombo, Nouriya Al-Sannaa, Mariela De Los Santos, Jordi Muchart López, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D Stoway, Rafael Artuch, Marjorie Dixon, Lars Mørkrid, Angeles García-Cazorl. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening. Brain : a journal of neurology. 2023-02-02. PMID:36729635. |
branched chain ketoacid dehydrogenase kinase (bckdk) deficiency causes branched-chain amino acid (bcaa) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability, and microcephaly. |
2023-02-02 |
2023-08-14 |
Not clear |
| Trine Tangeraas, Juliana R Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, François G Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodríguez-Pombo, Nouriya Al-Sannaa, Mariela De Los Santos, Jordi Muchart López, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D Stoway, Rafael Artuch, Marjorie Dixon, Lars Mørkrid, Angeles García-Cazorl. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening. Brain : a journal of neurology. 2023-02-02. PMID:36729635. |
all patients had global neurodevelopmental delay; 18/21 had gross motor function (gmf) impairment with gmf iii or worse in 5/18, 16/16 intellectual disability, 17/17 language impairment, 12/17 autism spectrum disorder, 9/21 epilepsy, 12/15 clumsiness, 3/21 had sensorineural hearing loss and 4/20 feeding difficulties. |
2023-02-02 |
2023-08-14 |
Not clear |
| Chiwoo Kim, Min-Sun Kim, Eu-Seon Noh, Ga Young Bae, Ja-Hyun Jang, Sae-Mi Lee, Sung Yoon Cho, Jeehun Lee, Dong-Kyu Ji. A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism. Annals of pediatric endocrinology & metabolism. 2023-02-02. PMID:36731504. |
a korean boy with a chd8 mutation who presented with overgrowth, intellectual disability, and autism. |
2023-02-02 |
2023-08-14 |
Not clear |
| Josephine Shenouda, Emily Barrett, Amy L Davidow, Kate Sidwell, Cara Lescott, William Halperin, Vincent M B Silenzio, Walter Zahorodn. Prevalence and Disparities in the Detection of Autism Without Intellectual Disability. Pediatrics. 2023-01-26. PMID:36700335. |
prevalence and disparities in the detection of autism without intellectual disability. |
2023-01-26 |
2023-08-14 |
Not clear |
| Sihwan Seol, Joonhong Kwon, Hyo Jung Kan. Cell type characterization of spatiotemporal gene co-expression modules in Down syndrome brain. iScience. vol 26. issue 1. 2023-01-17. PMID:36647384. |
down syndrome (ds) is the most common genetic cause of intellectual disability and increases the risk of other brain-related dysfunctions, like seizures, early-onset alzheimer's disease, and autism. |
2023-01-17 |
2023-08-14 |
Not clear |
| Mei-Mei Gao, Hang Shi, Hua-Juan Yan, Yue-Sheng Lon. Proteome profiling of the prefrontal cortex of Fmr1 knockout mouse reveals enhancement of complement and coagulation cascades. Journal of proteomics. 2023-01-16. PMID:36646274. |
fragile x mental retardation protein (fmrp) deficit resulted from mutations in its encoded fragile x mental retardation 1 (fmr1) gene is a common inherited cause of fragile x syndrome (fxs) characterized by intellectual disability and autism spectrum disorder (asd). |
2023-01-16 |
2023-08-14 |
mouse |
| Jessica Lee, Rosie Shepperd, Martin Smith, Geetha Anan. Recognising side effects of antipsychotics in children with intellectual disabilities. BMJ case reports. vol 16. issue 1. 2023-01-04. PMID:36599495. |
risperidone and aripiprazole are increasingly used for behavioural indications in children and adolescents with intellectual disabilities, including autism. |
2023-01-04 |
2023-08-14 |
Not clear |
| Elliot Sollis, Joery den Hoed, Marti Quevedo, Sara B Estruch, Arianna Vino, Dick H W Dekkers, Jeroen A A Demmers, Raymond Poot, Pelagia Deriziotis, Simon E Fishe. Characterisation of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions. Human molecular genetics. 2022-12-29. PMID:36579832. |
tbr1 is a neuron-specific transcription factor involved in brain development and implicated in a neurodevelopmental disorder (ndd) combining features of autism spectrum disorder (asd), intellectual disability (id) and speech delay. |
2022-12-29 |
2023-08-14 |
Not clear |
| Kristina Byström, Björn Wrangsjö, Patrik Grah. COMSI International journal of environmental research and public health. vol 19. issue 24. 2022-12-23. PMID:36554277. |
comsi this case study shows how an 8-year-old boy with autism and mild intellectual disability underwent positive psychological development in terms of play, social communication, and mentalization during a year and a half of group-based therapy using comsi |
2022-12-23 |
2023-08-14 |
Not clear |
| Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platze. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG. 2022-12-23. PMID:36564538. |
we assembled eight individuals harboring ultra rare variants in stx1a who present with a spectrum of intellectual disability, autism and epilepsy. |
2022-12-23 |
2023-08-14 |
Not clear |