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  • Article
  • Open Access
21 Citations
5,118 Views
24 Pages

Brain-Derived Neurotrophic Factor (BDNF) in Mechanisms of Autistic-like Behavior in BTBR Mice: Crosstalk with the Dopaminergic Brain System

  • Tatiana Ilchibaeva,
  • Anton Tsybko,
  • Marina Lipnitskaya,
  • Dmitry Eremin,
  • Kseniya Milutinovich,
  • Vladimir Naumenko and
  • Nina Popova

Disturbances in neuroplasticity undoubtedly play an important role in the development of autism spectrum disorders (ASDs). Brain neurotransmitters and brain-derived neurotrophic factor (BDNF) are known as crucial players in cerebral and behavioral pl...

  • Article
  • Open Access
9 Citations
3,275 Views
17 Pages

Associations between Prenatal Education, Breastfeeding and Autistic-Like Behaviors in Pre-Schoolers

  • Jing Chen,
  • Esben Strodl,
  • Li-Hua Huang,
  • Jing-Yi Chen,
  • Xin-Chen Liu,
  • Jian-Hui Yang and
  • Wei-Qing Chen

9 February 2021

This study aimed to investigate the association between prenatal education and autistic-like behaviors of preschoolers as well as the mediating role of breastfeeding in their associations. A cross-sectional study via a structured questionnaire was co...

  • Article
  • Open Access
23 Citations
7,664 Views
15 Pages

28 October 2020

Research into early screen exposure has raised growing concerns about its impact upon children’s neuropsychological well-being. However, possible pathways remain unclear. This study therefore aimed not only to evaluate the association between s...

  • Review
  • Open Access
16 Citations
9,786 Views
30 Pages

28 September 2024

Appropriate animal models of human diseases are a cornerstone in the advancement of science and medicine. To create animal models of neuropsychiatric and neurobehavioral diseases such as autism spectrum disorder (ASD) necessitates the development of...

  • Article
  • Open Access
1 Citations
2,015 Views
16 Pages

Intranasal Immunotherapy with M2 Macrophage Secretome Ameliorates Language Impairments and Autistic-like Behavior in Children

  • Ekaterina Ya. Shevela,
  • Tatiana A. Loginova,
  • Alexandr S. Munkuev,
  • Tatiana E. Volskaya,
  • Svetlana A. Sergeeva,
  • Ivan M. Rashchupkin,
  • Marina Yu. Kafanova,
  • Valentina G. Degtyareva,
  • Anastasia V. Sosnovskaya and
  • Elena R. Chernykh
  • + 1 author

24 May 2024

Background/Objectives: The intranasal delivery of various neurotropic substances is considered a new attractive therapeutic approach for treating neuropathologies associated with neuroinflammation and altered regeneration. Specific language impairmen...

  • Article
  • Open Access
23 Citations
6,368 Views
19 Pages

Disruption of Circadian Rhythms by Ambient Light during Neurodevelopment Leads to Autistic-like Molecular and Behavioral Alterations in Adult Mice

  • Kun Fang,
  • Dong Liu,
  • Salil S. Pathak,
  • Bowen Yang,
  • Jin Li,
  • Ramanujam Karthikeyan,
  • Owen Y. Chao,
  • Yi-Mei Yang,
  • Victor X. Jin and
  • Ruifeng Cao

26 November 2021

Although circadian rhythms are thought to be essential for maintaining body health, the effects of chronic circadian disruption during neurodevelopment remain elusive. Here, using the “Short Day” (SD) mouse model, in which an 8 h/8 h ligh...

  • Article
  • Open Access
21 Citations
4,973 Views
17 Pages

Dual Profile of Environmental Enrichment and Autistic-Like Behaviors in the Maternal Separated Model in Rats

  • Monireh Mansouri,
  • Hamidreza Pouretemad,
  • Gregers Wegener,
  • Mehrdad Roghani,
  • Masoud Afshari,
  • Carina Mallard and
  • Maryam Ardalan

25 January 2021

Background: Environmental Enrichment (EE) has been suggested as a possible therapeutic intervention for neurodevelopmental disorders such as autism. Although the benefits of this therapeutic method have been reported in some animal models and human s...

  • Article
  • Open Access
39 Citations
6,358 Views
22 Pages

The Dual-Active Histamine H3 Receptor Antagonist and Acetylcholine Esterase Inhibitor E100 Alleviates Autistic-Like Behaviors and Oxidative Stress in Valproic Acid Induced Autism in Mice

  • Nermin Eissa,
  • Sheikh Azimullah,
  • Petrilla Jayaprakash,
  • Richard L. Jayaraj,
  • David Reiner,
  • Shreesh K. Ojha,
  • Rami Beiram,
  • Holger Stark,
  • Dorota Łażewska and
  • Bassem Sadek
  • + 1 author

The histamine H3 receptor (H3R) functions as auto- and hetero-receptors, regulating the release of brain histamine (HA) and acetylcholine (ACh), respectively. The enzyme acetylcholine esterase (AChE) is involved in the metabolism of brain ACh. Both b...

  • Communication
  • Open Access
10 Citations
2,353 Views
9 Pages

Social Behavioral Deficits in Krushinsky-Molodkina Rats, an Animal Model of Audiogenic Epilepsy

  • Anastasiya A. Rebik,
  • Vyacheslav D. Riga,
  • Kirill S. Smirnov,
  • Olga V. Sysoeva and
  • Inna S. Midzyanovskaya

14 December 2022

In clinical practice, epilepsy is often comorbid with the autism spectrum disorders (ASDs). This warrants a search of animal models to uncover putative overlapping neuronal mechanisms. The Krushinsky-Molodkina (KM) rat strain is one of the oldest inb...

  • Article
  • Open Access
2 Citations
2,201 Views
16 Pages

R-Baclofen Treatment Corrects Autistic-like Behavioral Deficits in the RjIbm(m):FH Fawn-Hooded Rat Strain

  • Anita Varga,
  • Rita Kedves,
  • Katalin Sághy,
  • Dénes Garab,
  • Ferenc Zádor,
  • Balázs Lendvai,
  • György Lévay and
  • Viktor Román

The Fawn-hooded rat has long been used as a model for various peripheral and central disorders and the data available indicate that the social behavior of this strain may be compromised. However, a thorough description of the Fawn-hooded rat is unava...

  • Review
  • Open Access
40 Citations
10,916 Views
17 Pages

Autistic-Like Features in Visually Impaired Children: A Review of Literature and Directions for Future Research

  • Anna Molinaro,
  • Serena Micheletti,
  • Andrea Rossi,
  • Filippo Gitti,
  • Jessica Galli,
  • Lotfi B. Merabet and
  • Elisa Maria Fazzi

There remains great interest in understanding the relationship between visual impairment (VI) and autism spectrum disorder (ASD) due to the extraordinarily high prevalence of ASD in blind and visually impaired children. The broad variability across i...

  • Article
  • Open Access
1,485 Views
23 Pages

Effect of Maternal Dietary DHA and Prenatal Stress Mouse Model on Autistic-like Behaviors, Lipid Peroxidation Activity, and GABA Expression in Offspring Pups

  • Taeseon Woo,
  • Nick I. Ahmed,
  • Michael K. Appenteng,
  • Candice King,
  • Runting Li,
  • Kevin L. Fritsche,
  • Grace Y. Sun,
  • Jiankun Cui,
  • Matthew J. Will and
  • C. Michael Greenlief
  • + 3 authors

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restricted social communication and repetitive behaviors. Prenatal stress is critical in neurodevelopment and increases risk for ASD, particularly in those with greater...

  • Article
  • Open Access
1,707 Views
17 Pages

27 September 2025

Prenatal maternal stress (PNMS) predicts risk for autism spectrum disorders (ASD), although the mechanisms are unknown. Because ASD and autistic-like traits have been associated with both prenatal stress and DNA methylation differences, it is importa...

  • Article
  • Open Access
22 Citations
4,094 Views
13 Pages

The Effect of Maternal Immune Activation on Social Play-Induced Ultrasonic Vocalization in Rats

  • Kinga Gzielo,
  • Agnieszka Potasiewicz,
  • Ewa Litwa,
  • Diana Piotrowska,
  • Piotr Popik and
  • Agnieszka Nikiforuk

Prenatal maternal infection is associated with an increased risk of various neurodevelopmental disorders, including autism spectrum disorders (ASD). Maternal immune activation (MIA) can be experimentally induced by prenatal administration of polyinos...

  • Article
  • Open Access
36 Citations
11,884 Views
17 Pages

7 April 2015

Roughly 20% of autism spectrum disorders (ASD) are syndromic with a well-established genetic cause. Studying the genes involved can provide insight into the molecular and cellular mechanisms of ASD. 2q23.1 deletion syndrome (causative gene, MBD5) is...

  • Article
  • Open Access
13 Citations
3,777 Views
17 Pages

Possible Mechanisms of the Neuroprotective Actions of Date Palm Fruits Aqueous Extracts against Valproic Acid-Induced Autism in Rats

  • Abdelaziz M. Hussein,
  • Seham Ahmed Mahmoud,
  • Khalid Mohammed Elazab,
  • Ahmed F. Abouelnaga,
  • Marwa Abass,
  • Ahmed A. H. Mosa,
  • Mennatullah A. M. Hussein and
  • Mohamed E. G. Elsayed

14 February 2023

The current study aimed to determine how palm date aqueous fruit extracts (AFE) affected the autistic-like behaviors brought on by valproic acid (VPA) injection, as well as any potential contributions from Sirt-1, oxidative stress, apoptosis, and aut...

  • Review
  • Open Access
25 Citations
7,822 Views
21 Pages

S-adenosylmethionine (SAMe) is involved in many transmethylation reactions in most living organisms and is also required in the synthesis of several substances such as monoamine neurotransmitters and the N-methyl-D-aspartate (NMDA) receptor. Due to i...

  • Article
  • Open Access
10 Citations
3,633 Views
16 Pages

Apigenin Alleviates Autistic-like Stereotyped Repetitive Behaviors and Mitigates Brain Oxidative Stress in Mice

  • Petrilla Jayaprakash,
  • Dmytro Isaev,
  • Keun-Hang Susan Yang,
  • Rami Beiram,
  • Murat Oz and
  • Bassem Sadek

Studying the involvement of nicotinic acetylcholine receptors (nAChRs), specifically α7-nAChRs, in neuropsychiatric brain disorders such as autism spectrum disorder (ASD) has gained a growing interest. The flavonoid apigenin (APG) has been conf...

  • Review
  • Open Access
1 Citations
7,594 Views
28 Pages

Many neurobehavioral tests are used for the assessment of human-like behaviors in animals. Most of them were developed in rodents and are used for the assessment of animal models that mimic human neurodevelopmental and neuropsychiatric disorders (NDD...

  • Review
  • Open Access
15 Citations
4,083 Views
11 Pages

Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome

  • Brianna Dyar,
  • Erika Meaddough,
  • Sara M. Sarasua,
  • Curtis Rogers,
  • Katy Phelan and
  • Luigi Boccuto

30 July 2021

Phelan-McDermid syndrome (PMS) is a genetic disorder often characterized by autism or autistic-like behavior. Most cases are associated with haploinsufficiency of the SHANK3 gene resulting from deletion of the gene at 22q13.3 or from a pathogenic var...

  • Article
  • Open Access
22 Citations
5,206 Views
24 Pages

24 October 2019

In previous studies we produced autism like behavioral changes in mice by Valproic acid (VPA) with significant differences between genders. S-adenosine methionine (SAM) prevented the autism like behavior in both genders. The expression of 770 genes o...

  • Article
  • Open Access
1 Citations
3,899 Views
11 Pages

Severe gastrointestinal symptoms (GIS) and food hypersensitivity are tightly associated in young individuals with autism spectrum disorders (ASD). Here, we explored the relationship of GIS (gastrointestinal severity index, ROMA IV criteria, Bristol s...

  • Review
  • Open Access
7 Citations
4,569 Views
15 Pages

Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency

  • Luigia Rossi,
  • Francesca Nardecchia,
  • Francesca Pierigè,
  • Rossella Ventura,
  • Claudia Carducci,
  • Vincenzo Leuzzi,
  • Mauro Magnani,
  • Simona Cabib and
  • Tiziana Pascucci

2 August 2021

Guanidinoacetate methyltransferase deficiency (GAMT-D) is one of three cerebral creatine (Cr) deficiency syndromes due to pathogenic variants in the GAMT gene (19p13.3). GAMT-D is characterized by the accumulation of guanidinoacetic acid (GAA) and th...

  • Review
  • Open Access
45 Citations
9,192 Views
17 Pages

Since the first animal model of valproic acid (VPA) induced autistic-like behavior, many genetic and non-genetic experimental animal models for Autism Spectrum Disorder (ASD) have been described. The more common non-genetic animal models induce ASD i...

  • Article
  • Open Access
16 Citations
3,523 Views
11 Pages

Similarities between the Effects of Prenatal Chlorpyrifos and Valproic Acid on Ultrasonic Vocalization in Infant Wistar Rats

  • Miguel Morales-Navas,
  • Sergio Castaño-Castaño,
  • Cristian Pérez-Fernández,
  • Ainhoa Sánchez-Gil,
  • María Teresa Colomina,
  • Xavier Leinekugel and
  • Fernando Sánchez-Santed

Background: In recent years, ultrasonic vocalizations (USV) in pups has become established as a good tool for evaluating behaviors related to communication deficits and emotional states observed in autism spectrum disorder (ASD). Prenatal valproic ac...

  • Article
  • Open Access
4 Citations
3,651 Views
19 Pages

Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder

  • Nicola Mottolese,
  • Beatrice Uguagliati,
  • Marianna Tassinari,
  • Camilla Bruna Cerchier,
  • Manuela Loi,
  • Giulia Candini,
  • Roberto Rimondini,
  • Giorgio Medici,
  • Stefania Trazzi and
  • Elisabetta Ciani

15 September 2023

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. CDD is characterized by a broad spectrum of clinical manifestations, including early-onset refractor...

  • Article
  • Open Access
10 Citations
3,885 Views
12 Pages

16 November 2022

Excessive exposure of young children to digital devices has increased in recent years. Much research has shown that early excessive screentime is associated with autistic-like symptoms. This study aimed to differentiate children with Post–Digit...

  • Article
  • Open Access
22 Citations
4,690 Views
19 Pages

Amelioration of Maternal Immune Activation-Induced Autism Relevant Behaviors by Gut Commensal Parabacteroides goldsteinii

  • Tzu-Lung Lin,
  • Cha-Chen Lu,
  • Ting-Wen Chen,
  • Chih-Wei Huang,
  • Jang-Jih Lu,
  • Wei-Fan Lai,
  • Ting-Shu Wu,
  • Chih-Ho Lai,
  • Hsin-Chih Lai and
  • Ya-Lei Chen

28 October 2022

Autism spectrum disorder (ASD) is characterized by cognitive inflexibility and social deficits. Probiotics have been demonstrated to play a promising role in managing the severity of ASD. However, there are no effective probiotics for clinical use. I...

  • Case Report
  • Open Access
6 Citations
8,775 Views
10 Pages

Background. Heterozygous pathogenic variants in the DDX3X gene account for 1–3% of females with intellectual and developmental disabilities (IDD). The clinical presentation is variable, including a wide range of neurological and behavioral defi...

  • Review
  • Open Access
15 Citations
4,807 Views
10 Pages

Molecular Insights into IQSEC2 Disease

  • Nina S. Levy,
  • Veronika Borisov,
  • Orit Lache and
  • Andrew P. Levy

Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has led to the identification of numerous missense mutations that delineate at least six and possibly seven essential functional...

  • Review
  • Open Access
35 Citations
7,296 Views
24 Pages

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature

  • Špela Miroševič,
  • Shivang Khandelwal,
  • Petra Sušjan,
  • Nina Žakelj,
  • David Gosar,
  • Vida Forstnerič,
  • Duško Lainšček,
  • Roman Jerala and
  • Damjan Osredkar

19 October 2022

The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of cli...

  • Article
  • Open Access
35 Citations
5,256 Views
20 Pages

Simultaneous Blockade of Histamine H3 Receptors and Inhibition of Acetylcholine Esterase Alleviate Autistic-Like Behaviors in BTBR T+ tf/J Mouse Model of Autism

  • Nermin Eissa,
  • Petrilla Jayaprakash,
  • Holger Stark,
  • Dorota Łażewska,
  • Katarzyna Kieć-Kononowicz and
  • Bassem Sadek

28 August 2020

Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder defined by persistent deficits in social interaction and the presence of patterns of repetitive and restricted behaviors. The central neurotransmitters histamine (HA) and ac...

  • Article
  • Open Access
1,498 Views
26 Pages

Adult-Onset Deletion of CDKL5 in Forebrain Glutamatergic Neurons Impairs Synaptic Integrity and Behavior in Mice

  • Nicola Mottolese,
  • Feliciana Iannibelli,
  • Giulia Candini,
  • Federica Trebbi,
  • Manuela Loi,
  • Angelica Marina Bove,
  • Giorgio Medici,
  • Zhi-Qi Xiong,
  • Elisabetta Ciani and
  • Stefania Trazzi

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodevelopmental condition characterized by early-onset, intractable epilepsy, motor and cognitive impairment, and autistic-like features. Although constitutive C...

  • Article
  • Open Access
8 Citations
6,147 Views
13 Pages

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome

  • Paolo Alfieri,
  • Francesco Demaria,
  • Serena Licchelli,
  • Ornella Santonastaso,
  • Cristina Caciolo,
  • Maria Cristina Digilio,
  • Lorenzo Sinibaldi,
  • Chiara Leoni,
  • Maria Gnazzo and
  • Stefano Vicari
  • + 2 authors

7 November 2019

KBG syndrome is a rare multisystem developmental disorder caused by ankyrin repeat domain-containing protein 11 (ANKRD11) gene haploinsufficiency, resulting from either intragenic loss-of-function mutations or microdeletions encompassing the gene. Co...

  • Article
  • Open Access
2 Citations
4,153 Views
9 Pages

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder

  • Joseph Nicho Gonzalez,
  • Sylvie Goldman,
  • Melissa T. Carter and
  • Jennifer M. Bain

26 May 2023

Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. Classic Rett Syndrome presents in early childhood with a period of developmental regression, loss of purposeful hand skills along with han...

  • Article
  • Open Access
4 Citations
2,643 Views
12 Pages

Cardiac Autonomic Measures Predict Clinician-Rated Anxiety and Behavioral Response to Propranolol in Autistic Children and Young Adults

  • Carrina Appling,
  • Nanan Nuraini,
  • Ryan Holem,
  • Samantha Hunter,
  • Kathy Hirst,
  • Nicole Takahashi,
  • Micah O. Mazurek,
  • Stephen M. Kanne,
  • Bradley Ferguson and
  • David Q. Beversdorf

Propranolol, a nonselective beta-adrenergic antagonist, has shown potential for improving anxiety in autistic individuals. Heart rate variability (HRV), a noninvasive cardiac marker of autonomic nervous system functioning, may help identify individua...

  • Article
  • Open Access
10 Citations
7,316 Views
17 Pages

6 March 2024

Though there is growing awareness of the overrepresentation of autistic patients in chronic pain clinics, potential adaptations for the assessment and treatment of chronic pain in this population have not yet been established. To address this gap, a...

  • Article
  • Open Access
23 Citations
5,665 Views
20 Pages

Attenuation of Autism-like Behaviors by an Anthocyanin-Rich Extract from Portuguese Blueberries via Microbiota–Gut–Brain Axis Modulation in a Valproic Acid Mouse Model

  • Diana Serra,
  • Joana F. Henriques,
  • Fábio J. Sousa,
  • Mariana Laranjo,
  • Rosa Resende,
  • Marisa Ferreira-Marques,
  • Victor de Freitas,
  • Gabriela Silva,
  • João Peça and
  • Leonor M. Almeida
  • + 1 author

17 August 2022

Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental pathologies whose current treatment is neither curative nor effective. Anthocyanins are naturally occurring compounds abundant in blueberries and in other red fruits which have been s...

  • Review
  • Open Access
24 Citations
8,403 Views
20 Pages

Dysregulation of Multiple Signaling Neurodevelopmental Pathways during Embryogenesis: A Possible Cause of Autism Spectrum Disorder

  • Jyoti Upadhyay,
  • Jeevan Patra,
  • Nidhi Tiwari,
  • Nilima Salankar,
  • Mohd Nazam Ansari and
  • Wasim Ahmad

20 April 2021

Understanding the autistic brain and the involvement of genetic, non-genetic, and numerous signaling pathways in the etiology and pathophysiology of autism spectrum disorder (ASD) is complex, as is evident from various studies. Apart from multiple de...

  • Article
  • Open Access
4 Citations
2,423 Views
13 Pages

9 March 2024

The International Classification of Functioning, Disability, and Health for Children and Youth outlines body structures and functions and activities and participation to fully describe elements that support or detract from participation. While flouri...

  • Article
  • Open Access
335 Views
20 Pages

Behavioral Features in Phelan–McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals

  • Emily Payne,
  • Bridgette A. Moffitt,
  • Lindsay M. Oberman,
  • Laura Beamer,
  • Sujata Srikanth,
  • Lauren Nicole Cascio,
  • Kelly Jones,
  • Lavanya Jain,
  • Rini Pauly and
  • Luigi Boccuto
  • + 9 authors

8 February 2026

Background/Objectives: Phelan–McDermid syndrome (PMS), caused by either chromosome 22q13.3 deletions or pathogenic/likely pathogenic variants in the SHANK3 gene, is a rare neurodevelopmental disorder. Behavioral issues greatly impair the qualit...

  • Article
  • Open Access
8 Citations
7,405 Views
21 Pages

22 April 2025

This study explored the effectiveness of VR-based social skills training for students with autism and typically developing students with social difficulties. Six autistic students and five typically developing students from upper elementary grades pa...

  • Article
  • Open Access
1,499 Views
30 Pages

Dysregulation of Protein Kinase CaMKI Leads to Autism-Related Phenotypes in Synaptic Connectivity, Sleep, Sociality, and Aging-Dependent Degeneration in Drosophila

  • Claudia Gualtieri,
  • Zachary M. Smith,
  • Abby Cruz,
  • Ziam Khan,
  • Conor Jenkins,
  • Ketu Mishra-Gorur and
  • Fernando J. Vonhoff

9 September 2025

Autism spectrum disorder (ASD) encompasses a range of conditions, primarily marked by deficits in social behaviors, along with several comorbidities such as sleep abnormalities and motor dysfunction. Recent studies have identified genetic risk factor...

  • Article
  • Open Access
11 Citations
3,973 Views
10 Pages

Importance of Desensitization for Autistic Children in Dental Practice

  • Eva Martínez Pérez,
  • Alberto Adanero Velasco,
  • Víctor Gómez Clemente,
  • Mónica Miegimolle Herrero and
  • Paloma Planells Del Pozo

28 April 2023

Objectives: Dental treatment in special needs patients, including children with autism, can be accomplished by reducing the behaviors that can reduce fear, as it has been demonstrated in other studies. The present study aims to examine the influence...

  • Article
  • Open Access
16 Citations
7,270 Views
13 Pages

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

  • Clemer Abad,
  • Melissa M. Cook,
  • Lei Cao,
  • Julie R. Jones,
  • Nalini R. Rao,
  • Lynn Dukes-Rimsky,
  • Rini Pauly,
  • Cindy Skinner,
  • Yunsheng Wang and
  • Anand K. Srivastava
  • + 3 authors

Deletions and mutations involving the Retinoic Acid Induced 1 (RAI1) gene at 17p11.2 cause Smith-Magenis syndrome (SMS). Here we report a patient with autism as the main clinical presentation, with some SMS-like features and a rare de novo RAI1 gene...

  • Article
  • Open Access
3 Citations
16,700 Views
24 Pages

Sex-Specific Behavioral Features of the Prenatal Valproic Acid Rat Model of Autism Spectrum Disorder

  • Patience Mulalo Mamali,
  • Christine Dignon,
  • Ayanda Ngwenya and
  • Busisiwe Constance Maseko

Background/Objectives: Autism is a complex neurodevelopmental disorder characterized by restricted behaviors and impaired social and communication skills. The exact cause of autism remains unknown. One promising animal model for studying autism is th...

  • Article
  • Open Access
4 Citations
4,550 Views
13 Pages

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

  • Maria Carla Borroto,
  • Coralie Michaud,
  • Chloé Hudon,
  • Pankaj B. Agrawal,
  • Katherine Agre,
  • Carolyn D. Applegate,
  • Alan H. Beggs,
  • Hans T. Bjornsson,
  • Bert Callewaert and
  • Philippe M. Campeau
  • + 28 authors

6 August 2024

Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, h...

  • Article
  • Open Access
2 Citations
2,107 Views
21 Pages

Background/Objectives: Repetitive behaviors such as hand flapping, body rocking, and head shaking characterize Autism Spectrum Disorder (ASD) while functioning as early signs of neurodevelopmental variations. Traditional diagnostic procedures require...

  • Article
  • Open Access
1 Citations
993 Views
12 Pages

Investigation of Electroencephalographic Aspects, Adaptive Features, and Clinical Phenotypes in a Group of Children with Autism—A Pilot Study

  • Alexandru Capisizu,
  • Leon Zăgrean,
  • Elena Poenaru,
  • Elena Tudorache,
  • Mihaela Anca Bulf and
  • Adriana Sorina Capisizu

(1) Background: Autism, as an important global problem that affects many phenotypically different individuals, is associated with electroencephalographic (EEG) abnormalities and adaptability impairment. (2) Materials and Methods: In this retrospectiv...

  • Review
  • Open Access
73 Citations
27,492 Views
33 Pages

Kabuki Syndrome—Clinical Review with Molecular Aspects

  • Snir Boniel,
  • Krystyna Szymańska,
  • Robert Śmigiel and
  • Krzysztof Szczałuba

25 March 2021

Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper...

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