Review
Cell Biology
Chiara Parodi, Elisabetta Di Fede, Angela Peron, Ilaria Vigano, Paolo Grazioli, Silvia Castiglioni, Richard H. Finnell, Cristina Gervasini, Aglaia Vignoli, Valentina Massa
Summary: Prenatal exposure to the antiepileptic drug VPA is associated with FVSD, while VPA itself is a known inhibitor of histone deacetylase and related to chromatinopathies. Despite different etiologies, FVSD and chromatinopathies share overlapping clinical features, suggesting a common disturbed mechanism during embryonic development.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Ophthalmology
Hayyam Kiratli, Dilan Colak, Irem Koc
Summary: This study describes a rare case of a child with bilateral central corneal dermoids in association with fetal valproate spectrum disorder (FVSD) and reports the spontaneous regression of these tumors.
Article
Neurosciences
Yuanyuan Di, Zhijun Diao, Qi Zheng, Jin Li, Qiangqiang Cheng, Zhongqi Li, Suwen Fang, Hao Wang, Chunling Wei, Qiaohua Zheng, Yingxun Liu, Jing Han, Zhiqiang Liu, Juan Fan, Wei Ren, Yingfang Tian
Summary: Autism is characterized by social deficits and repetitive behaviors. Recent studies have shown differential alterations in the ventral and dorsal striatum, and this study revealed coexisting and opposite morphologic and functional changes in the dorsostriatal direct and indirect pathways. These changes are responsible for the two different autism-like behaviors exhibited by male mice prenatally exposed to valproate. This finding supports the notion that differential alterations in striatal pathways mediate the coexistence of social deficits and repetitive behaviors in autism.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Behavioral Sciences
Neza Grgurevic
Summary: The extreme male hypothesis was tested in the valproate mouse model, and the results showed that valproate treatment increased plasma testosterone levels and decreased tyrosine hydroxylase expression in male mice. However, the effects of valproate are complex and a generalized interpretation of the extreme male hypothesis should be avoided.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Kristof Laszlo, David Voros, Orsolya Kiss, Bettina Reka Laszlo, Tamas Ollmann, Laszlo Peczely, Kitti Mintal, Attila Toth, Anita Kovacs, Olga Zagoracz, Erika Kertes, Veronika Kallai, Beata Berta, Zoltan Karadi, Laszlo Lenard
Summary: This study found that oxytocin injected into the central nucleus of the amygdala has positive reinforcing effects in a rat model of autism induced by valproate. The effects are specific to oxytocin receptors and are blocked by a dopamine D2 receptor antagonist. The findings suggest a potential role for oxytocin and the dopaminergic system in the treatment of autism.
Article
Medicine, General & Internal
Lamis Yehia, Gilman Plitt, Ann M. Tushar, Julia Joo, Carol A. Burke, Steven C. Campbell, Katherine Heiden, Judy Jin, Carole Macaron, Chad M. Michener, Holly J. Pederson, Kadakkal Radhakrishnan, Joyce Shin, Joan Tamburro, Sujata Patil, Charis Eng
Summary: Patients with PTEN hamartoma tumor syndrome (PHTS) have elevated lifetime cancer risks, especially for breast, endometrial, thyroid, kidney, and colorectal cancers. Children, young adults, and individuals with neurodevelopmental disorders are also at higher risk. Therefore, further research and organ-specific cancer surveillance are important for patients with PHTS.
Article
Cardiac & Cardiovascular Systems
Alper Dogan, Ali Baykan, Cagdas Vural
Summary: Our case of coronary AV fistula in association with fetal valproate syndrome is the first reported in the literature. Despite challenges in differential diagnosis, a detailed history, physical examination, and appropriate laboratory tests are key in diagnosing the condition. Preventing fetal valproate syndrome can be achieved by discontinuing the use of valproic acid, especially during the first trimester of pregnancy.
CARDIOLOGY IN THE YOUNG
(2021)
Review
Neurosciences
Barbara Carpita, Lavinia Migli, Ilaria Chiarantini, Simone Battaglini, Clara Montalbano, Claudia Carmassi, Ivan Mirko Cremone, Liliana Dell'Osso
Summary: This review summarizes the research on the association between fetal alcohol spectrum disorders (FASD) and autism spectrum disorder (ASD), focusing on the clinical overlaps and shared pathogenic mechanisms. The findings highlight the similarities and differences between the two disorders and emphasize the need to improve diagnosis, particularly in milder presentations and sub-syndromic traits.
Article
Biochemistry & Molecular Biology
David Voros, Orsolya Kiss, Tamas Ollmann, Kitti Mintal, Laszlo Peczely, Olga Zagoracz, Erika Kertes, Veronika Kallai, Bettina Reka Laszlo, Beata Berta, Attila Toth, Laszlo Lenard, Kristof Laszlo
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects a significant portion of children worldwide. Impaired social interaction is a core symptom of ASD and finding effective treatments is crucial. This study investigated the impact of oxytocin (OT) on social interaction in a rat model of ASD induced by valproate (VPA). The results demonstrated that intraamygdaloid OT increased social interaction time in VPA-treated rats, suggesting its potential as a therapeutic intervention for ASD.
Article
Biochemistry & Molecular Biology
A. Yu Arkhipov, D. Samigullin, I. I. Semina, A. Malomouzh
Summary: Research has shown that in rats with developed valproate syndrome, movement coordination did not differ from control animals. Through microelectrode electrophysiology methods, parameters including amplitude-time of postsynaptic signals and acetylcholine release characteristics were analyzed. It was concluded that there were no significant changes in peripheral cholinergic neurotransmission in rats with fetal valproate syndrome.
JOURNAL OF EVOLUTIONARY BIOCHEMISTRY AND PHYSIOLOGY
(2021)
Article
Behavioral Sciences
Yusra Mansour, Randy J. Kulesza
Summary: Autism spectrum disorder (ASD) is characterized by repetitive behaviors, poor social skills, and communication/hearing difficulties. Research on both human cases of ASD and an animal model of autism has shown hypoplasia in the superior olivary complex (SOC). However, no changes were found in the total number of neurons in the ventral nucleus of the trapezoid body (VNTB) in the human SOC study. Furthermore, studies on animals prenatally exposed to valproic acid (VPA) did not show changes in the total number, size, or shape of VNTB neurons.
FRONTIERS IN INTEGRATIVE NEUROSCIENCE
(2021)
Article
Pediatrics
Yasmin Senturias, Mir M. Ali, Kristina West
Summary: This study used a large health insurance claims database to examine the prevalence of psychotropic medication use and cooccurring medical conditions among children with fetal alcohol syndrome disorder (FASD). The results showed that more than half of the children with FASD were prescribed psychotropic medications, and the utilization rates were higher among those with cooccurring mental health conditions. The most commonly prescribed medication was stimulants. Encephalopathy, attention deficit hyperactivity disorder, and epilepsy were the most common cooccurring diagnoses among children with FASD using psychotropic medication.
Article
Biochemistry & Molecular Biology
Kristof Laszlo, Orsolya Kiss, David Voros, Kitti Mintal, Tamas Ollmann, Laszlo Peczely, Anita Kovacs, Olga Zagoracz, Erika Kertes, Veronika Kallai, Bettina Laszlo, Edina Hormay, Beata Berta, Attila Toth, Zoltan Karadi, Laszlo Lenard
Summary: In this study, the potential anxiolytic effect of oxytocin (OT) in the amygdala was investigated using the elevated plus maze test in a rodent model of autism induced by valproate (VPA). The results showed that bilateral OT microinjection into the central nucleus of the amygdala reduced anxiety levels in autistic rats.
Article
Endocrinology & Metabolism
Elham Zahedi, Seyed Shahabeddin Sadr, Ashkan Sanaeierad, Mehrdad Roghani
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social behavior difficulties and restricted behaviors. This study focused on the neuronal changes in the amygdala and its possible signaling pathway in ASD. The findings suggest that prenatal exposure to valproate leads to anxiety and autistic-like behaviors by targeting amygdala parvalbumin interneurons dysfunction, possibly through disturbed AMPK/SIRT1/PGC1a signaling pathway.
METABOLIC BRAIN DISEASE
(2023)
Article
Pediatrics
Alisa Corrado, Grace Yoshiba, Megan Buranosky, Zakary Woods, Julie Wohrley, Lubov Romantseva, Ashley Wolf
Summary: A 43-day-old male infant presented with decreased activity and oral intake, initially diagnosed with bronchiolitis. However, as his condition worsened, he developed neurological deficits and underwent an extensive workup, leading to a surprising diagnosis.