| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Elisa Granocchio, Eleonora Pollina, Marinella De Salvatore, Maria R Scopelliti, Giorgia Tanzi, Francesca L Sciacca, Stefano D'Arrigo, Claudia Ciacci. 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. Psychiatric genetics. 2023-12-12. PMID:38084626. |
among these, patients with genetic alteration disrupting shank3 gene are very rare and they also present neurodevelopmental disorder such as autism spectrum disorder and intellectual disability. |
2023-12-12 |
2023-12-17 |
Not clear |
| Elisa Granocchio, Eleonora Pollina, Marinella De Salvatore, Maria R Scopelliti, Giorgia Tanzi, Francesca L Sciacca, Stefano D'Arrigo, Claudia Ciacci. 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. Psychiatric genetics. 2023-12-12. PMID:38084626. |
we describe the first case of 22q13.33 microduplication disrupting shank3 gene, inherited from mother to son, that presents a "persistent" language and speech sound disorder as main symptom without intellectual disability and autism spectrum disorder. |
2023-12-12 |
2023-12-17 |
Not clear |
| Kathryn O Farley, Catherine A Forbes, Nicole C Shaw, Emma Kuzminski, Michelle Ward, Gareth Baynam, Timo Lassmann, Vanessa S Fea. CRISPR/Cas9 generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction. HGG advances. 2023-11-26. PMID:38007613. |
loss of function mutations in ptchd1 are associated with autism spectrum disorder and intellectual disability; however, the molecular function of ptchd1, and its role in neurodevelopmental disease is unknown. |
2023-11-26 |
2023-11-28 |
Not clear |
| Susan M Havercam. Preparing Healthcare Professionals to Care for Patients with Disabilities. Psychiatria Danubina. vol 35. issue Suppl 3. 2023-11-24. PMID:37994069. |
disabled people, and particularly people with intellectual disability and autism spectrum disorder, experience significant health disparities compared to nondisabled people. |
2023-11-24 |
2023-11-28 |
Not clear |
| Serafino Corti, Roberto Cavagnola, Davide Carnevali, Mauro Leoni, Fioriti Francesco, Laura Galli, Laura Alzani, Giovanni Michelini, Giovanni Miselli, Giuseppe Chiodell. The Life Project of People with Autism and Intellectual Disability: Investigating Personal Preferences and Values to Enhance Self-Determination. Psychiatria Danubina. vol 35. issue Suppl 3. 2023-11-23. PMID:37994057. |
people with autism and intellectual disabilities, much like individuals with typical development, share a fundamental right and aspiration to realise their own life projects. |
2023-11-23 |
2023-11-29 |
Not clear |
| Stephen F Pastore, Tahir Muhammad, Cassandra Stan, Paul W Frankland, Paul A Hamel, John B Vincen. Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence. Scientific reports. vol 13. issue 1. 2023-11-22. PMID:37990104. |
patched domain-containing 1 (ptchd1) is a well-established susceptibility gene for autism spectrum disorder (asd) and intellectual disability (id). |
2023-11-22 |
2023-11-29 |
mouse |
| Leanne Tamm, Elizabeth Hamik, Tat Shing Yeung, Allison K Zoromski, Constance A Mara, Amie Dunca. Achieving Independence and Mastery in School: A School-Based Executive Function Group Intervention for Autistic Middle Schoolers. Journal of autism and developmental disorders. 2023-11-22. PMID:37991661. |
executive functioning (ef) deficits, such as challenges with planning, organization, and materials management, negatively impact academic performance, particularly for middle-school students with autism spectrum disorder (asd) without intellectual disability (id). |
2023-11-22 |
2023-11-29 |
Not clear |
| Zuyi Fang, Xinran Liu, Cheng Zhang, Jamie M Lachman, Dongping Qia. Parenting Interventions That Promote Child Protection and Development for Preschool-Age Children with Developmental Disabilities: A Global Systematic Review and Meta-Analysis. Trauma, violence & abuse. 2023-11-18. PMID:37978829. |
the findings supported the delivery of parenting programs to alter factors associated with violence against children and promote child language and social skills for families of young children with developmental disabilities, especially attention deficit hyperactivity disorder, autism, intellectual disability, and language disorders. |
2023-11-18 |
2023-11-20 |
Not clear |
| Dimitri Traenkner, Omar Shennib, Alyssa Johnson, Adam Weinbrom, Matthew R Taylor, Megan E William. Modular Splicing is Linked to Evolution in the Synapse-Specificity Molecule Kirrel3. eNeuro. 2023-11-17. PMID:37977826. |
kirrel3 is a cell-adhesion molecule that instructs the formation of specific synapses during brain development in mouse and kirrel3 variants may be risk factors for autism and intellectual disabilities in humans. |
2023-11-17 |
2023-11-20 |
mouse |
| Diana C Beard, Xiyun Zhang, Dennis Y Wu, Jenna R Martin, Alyssa Erickson, Jane Valeriane Boua, Nicole Hamagami, Raylynn G Swift, Katherine B McCullough, Xia Ge, Austin Bell-Hensley, Hongjun Zheng, Cory W Palmer, Nicole A Fuhler, Austin B Lawrence, Cheryl A Hill, Thomas Papouin, Kevin K Noguchi, 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. Cell reports. vol 42. issue 11. 2023-11-12. PMID:37952155. |
here, we investigate missense mutations in dna methyltransferase 3a (dnmt3a), a dna methyltransferase associated with overgrowth, intellectual disability, and autism, to uncover molecular correlates of phenotypic heterogeneity. |
2023-11-12 |
2023-11-20 |
Not clear |
| Valeria Caragli, Daniele Monzani, Elisabetta Genovese, Silvia Palma, Antonio M Persic. Cochlear Implantation in Children with Additional Disabilities: A Systematic Review. Children (Basel, Switzerland). vol 10. issue 10. 2023-10-30. PMID:37892316. |
our two-stage search strategy selected a total of 61 articles concerning ci implantation in children with several forms of additional disabilities: autism spectrum disorder, cerebral palsy, visual impairment, motor disorders, developmental delay, genetic syndromes, and intellectual disability. |
2023-10-30 |
2023-11-08 |
Not clear |
| Melody Li, Mohamed Eltabbal, Hoang-Dai Tran, Bernd Kuh. Scn2a insufficiency alters spontaneous neuronal Ca iScience. vol 26. issue 11. 2023-10-26. PMID:37876801. |
scn2a insufficiency alters spontaneous neuronal ca scn2a protein-truncating variants (ptv) can result in neurological disorders such as autism spectrum disorder and intellectual disability, but they are less likely to cause epilepsy in comparison to missense variants. |
2023-10-26 |
2023-11-08 |
Not clear |
| Inci S Aksoylu, Pauline Martin, Francis Robert, Krzysztof J Szkop, Nicholas E Redmond, Srirupa Bhattacharyya, Jennifer Wang, Shan Chen, Roberta L Beauchamp, Irene Nobeli, Jerry Pelletier, Ola Larsson, Vijaya Rames. Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations. Molecular autism. vol 14. issue 1. 2023-10-26. PMID:37880800. |
tuberous sclerosis complex (tsc) is an inherited neurocutaneous disorder caused by mutations in the tsc1 or tsc2 genes, with patients often exhibiting neurodevelopmental (nd) manifestations termed tsc-associated neuropsychiatric disorders (tand) including autism spectrum disorder (asd) and intellectual disability. |
2023-10-26 |
2023-11-08 |
Not clear |
| Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio, Eleonora Aronic. Is tuberous sclerosis complex-associated autism a preventable and treatable disorder? World journal of pediatrics : WJP. 2023-10-25. PMID:37878130. |
the mtor pathway plays a crucial role in several brain processes leading to tsc-related epilepsy, intellectual disability, and autism spectrum disorder (asd). |
2023-10-25 |
2023-11-08 |
Not clear |
| Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Sophie Nambot, Bertrand Isidor, Jasper J van der Smagt, Joseph J Shen, Amelle Shillington, Lori White, Houda Zghal Elloumi, Peter R Baker, Shayna Svihovec, Kathleen Brown, Yvonne Koopman-Keemink, Mariette J V Hoffer, Inge M M Lakeman, Elise Brischoux-Boucher, Maria Kinali, Xiaonan Zhao, Seema R Lalani, Daryl A Scot. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. American journal of medical genetics. Part A. 2023-10-24. PMID:37872713. |
the phenotypes most commonly seen in association with loss of baz2b function include developmental delay, intellectual disability, autism spectrum disorder, speech delay-with some affected individuals being non-verbal-behavioral abnormalities, seizures, vision-related issues, congenital heart defects, poor fetal growth, and an indistinct pattern of dysmorphic features in which epicanthal folds and small ears are particularly common. |
2023-10-24 |
2023-11-08 |
Not clear |
| Sureni H Sumathipala, Suha Khan, Robert A Kozol, Yoichi Araki, Sheyum Syed, Richard L Huganir, Julia E Dallma. Context-dependent hyperactivity in bioRxiv : the preprint server for biology. 2023-10-03. PMID:37786701. |
context-dependent hyperactivity in syngap1 disorder is a prevalent genetic form of autism spectrum disorder and intellectual disability (asd/id) and is caused by |
2023-10-03 |
2023-10-07 |
Not clear |
| Jair Tenorio-Castano, Ángela Sánchez-Algaba Gómez, Mónica Coronado, Pilar Rodríguez-Martín, Alejandro Parra, Patricia Pascual, Mario Cazalla, Natalia Gallego, Pedro Arias, Aixa V Morales, Julián Nevado, Pablo Lapunzin. Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency. Clinical genetics. 2023-09-13. PMID:37702321. |
clinical features of lamb-shaffer syndrome may include intellectual disability, delayed speech and language development, attention deficits, hyperactivity, autism spectrum disorder, visual problems and seizures. |
2023-09-13 |
2023-10-07 |
human |
| Melike Kevser Gul, Murside Sahin, Esra Demirci, Sevgi Ozmen, Reyhan Tahtasakal, Elif Funda Sene. Nerve Growth Factor and Angiotensin Converting Enzyme 2 Levels in Children with Neurodevelopmental Disorders. The International journal of neuroscience. 2023-09-11. PMID:37691578. |
in this study, it was aimed to investigate the levels of nerve growth factor (ngf) and angiotensin converting enzyme 2 (ace2) in attention deficit hyperactivity disorder (adhd), autism spectrum disorder (asd), and intellectual disability (id). |
2023-09-11 |
2023-10-07 |
Not clear |
| D V I, T N Proskokov. [Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 123. issue 8. 2023-09-01. PMID:37655421. |
phelan-mcdermid syndrome (pms) is a hereditary disorder associated with microdeletions of chromosome 22q13 or point mutations in shank3, characterized by mental and speech delays, intellectual disability, epilepsy and autism spectrum disorder. |
2023-09-01 |
2023-09-07 |
Not clear |
| Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadell. KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype. Italian journal of pediatrics. vol 49. issue 1. 2023-08-22. PMID:37605258. |
among these, kirrel3 is known to play a role in cns development, and his variants have recently been related to intellectual disability, autism spectrum disorder, childhood apraxia of speech, cerebellar hypoplasia and mild dysmorphic features. |
2023-08-22 |
2023-09-07 |
Not clear |