Review
Biochemistry & Molecular Biology
Joy Yoon, Yingwei Mao
Summary: Pathogenic copy number variations (CNVs) play a crucial role in neurodevelopmental/neuropsychiatric disorders (NDs), with the 1q21.1 CNVs showing specific associations with different phenotypes. The genetic structure associated with 1q21.1 is strongly linked to neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity, posing challenges for the discovery of molecular pathways and phenotypic networks. Variations in phenotypic severity, genomic penetrance, and inheritance are also reported.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Neurosciences
Foster D. Ritchie, Sofia B. Lizarraga
Summary: Brain size is influenced by various factors during neuronal development. Mutations in histone methyltransferases that modify histone H3 are associated with neurodevelopmental disorders involving abnormal brain size. The interplay between histone modifications and the Polycomb Repressor Complex 2 may contribute to brain size abnormalities.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Neurosciences
Fu Hung Shiu, Jennifer C. Wong, Takahiro Yamamoto, Trisha Lala, Ryan H. Purcell, Sharon Owino, Dan Zhu, Erwin G. Van Meir, Randy A. Hall, Andrew Escayg
Summary: The adhesion G protein-coupled receptor BAI1/ADGRB1 plays a crucial role in angiogenesis suppression, phagocytosis mediation, and acting as a brain tumor suppressor. It is also involved in dendritic spine and excitatory synapse development and interacts with autism-relevant proteins. Reduced expression of full length Bai1 leads to social behavior deficits, increased seizure susceptibility, delayed growth, reduced brain weight, decreased neuron density, and increased apoptosis during brain development.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Article
Neurosciences
Dan Xu, Yiqiang Zhi, Xinyi Liu, Le Guan, Jurui Yu, Dan Zhang, Weiya Zhang, Yaqing Wang, Wucheng Tao, Zhiheng Xu
Summary: The study reveals a correlation between abnormal brain size and increased frequency of autism spectrum disorder (ASD) in offspring, with heterozygous mutations of the WDR62 gene associated with ASD. Knockout of Wdr62 in mice leads to reduced brain size and impaired learning/memory, as well as ASD-like behaviors. However, depletion of WDR62 specifically in differentiated neurons results in largely normal brain size but aberrant social interactions and repetitive behaviors, indicating a complex role for WDR62 in ASD etiology.
NEUROSCIENCE BULLETIN
(2023)
Article
Clinical Neurology
Richard H. Cole, Michael S. Elmalem, Panayiota Petrochilos
Summary: In a cohort of adults with Functional Neurological Disorder (FND), the prevalence of autistic traits and alexithymia is reported, along with the associated psychiatric comorbidity. Furthermore, it is explored whether alexithymia mediates the association between autistic traits and comorbidity.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Tomas Dobrocky, Eike Piechowiak, Bastian Volbers, Nedelina Slavova, Johannes Kaesmacher, Thomas R. Meinel, Marcel Arnold, Urs Fischer, Simon Jung, Jan Gralla, Pasquale Mordasini, Mirjam R. Heldner
Summary: This study compared the outcomes of intravenous thrombolysis (IVT) with endovascular therapy (EVT) (+/- IVT) and IVT with mechanical thrombectomy (MT) in patients with peripheral middle cerebral artery occlusions and minor neurological deficits. The results showed similar effectiveness between IVT and EVT, as well as IVT and MT, in these patients, with a potential benefit of EVT in those treated after 2015.
Review
Cell Biology
Siyu Li, Cheng Cheng, Ling Lu, Xiaofeng Ma, Xiaoli Zhang, Ao Li, Jie Chen, Xiaoyun Qian, Xia Gao
Summary: Sensorineural hearing loss affects hundreds of millions worldwide, often accompanied by neurological disorders. The prevalence, manifestations, and neuropathological mechanisms vary among different diseases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Pediatrics
Vinod Sharma, Arushi Gahlot Saini, Prahbhjot Malhi, Pratibha Singhi
Summary: The study found that about one-fourth of children with autism spectrum disorders also have epilepsy, with female gender and adverse perinatal events being independent risk factors. Subclinical or isolated EEG abnormalities are associated with abnormal neurological examination.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Psychology, Clinical
Jack F. G. Underwood, Marcos DelPozo-Banos, Aura Frizzati, Dheeraj Rai, Ann John, Jeremy Hall
Summary: Co-occurring psychiatric and neurological conditions are common in autistic individuals, with conditions such as attention-deficit hyperactivity disorder, bipolar disorder, obsessive-compulsive disorder, psychosis, schizophrenia, depression, anxiety, and epilepsy being more prevalent in this population.
PSYCHOLOGICAL MEDICINE
(2023)
Article
Psychology, Developmental
Marie Martel, Livio Finos, Salam Bahmad, Eric Koun, Romeo Salemme, Sandrine Sonie, Pierre Fourneret, Christina Schmitz, Alice Catherine Roy
Summary: Autism spectrum disorders and developmental coordination disorders are both associated with sensorimotor impairments. Children with these disorders were examined in a reach-to-displace paradigm, which allowed the integrity of motor control to be separately interrogated. The results showed that children with developmental coordination disorder had preserved feedforward control but impaired movement execution, while children with autism spectrum disorder had impaired feedforward control but preserved feedback control.
Article
Cell Biology
Noorya Yasmin Ahmed, Rhys Knowles, Lixinyu Liu, Yiming Yan, Xiaohan Li, Ulrike Schumann, Yumeng Wang, Yovina Sontani, Nathan Reynolds, Riccardo Natoli, Jiayu Wen, Isabel Del Pino, Da Mi, Nathalie Dehorter
Summary: Interneurons play a fundamental role in maintaining the balance between excitation and inhibition in the brain. This study focused on understanding the molecular and physiological changes in developing interneurons in the striatum of Cntnap2 knockout mouse model. The findings revealed alterations in cell proliferation and cell loss, as well as specific changes in the firing properties of cholinergic interneurons during early postnatal development. These findings provide insights into the mechanisms underlying the pathogenesis of autism spectrum disorder (ASD).
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Psychology, Developmental
Susan Ellis Weismer, Eric Rubenstein, Lisa Wiggins, Maureen S. Durkin
Summary: The study found that children with possible Social (Pragmatic) Communication Disorder (SCD) have elevated deficits in social communication and restricted and repetitive behavior compared to children with other developmental delay (DD), but do not reach the clinical threshold for autism spectrum disorder (ASD).
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Multidisciplinary Sciences
Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. H. Johannesen, Elena Gardella, Julia Jacobs, Gaetan Lesca, Zeynep Gokce-Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger-Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Moller, Philip K. Ahring
Summary: This study discovered that pathogenic mutations in the GABRB3 gene can be divided into gain-of-function and loss-of-function groups, with patients in each group displaying distinct clinical features. Patients with gain-of-function mutations had earlier age of seizure onset, higher risk of severe intellectual disability, more severe seizures, and poorer response to treatment. Febrile seizures at onset were exclusively found in patients with loss-of-function mutations.
NATURE COMMUNICATIONS
(2022)
Article
Endocrinology & Metabolism
Saijun Huang, Jiaying Zeng, Ruoyu Sun, Hong Yu, Haimou Zhang, Xi Su, Paul Yao
Summary: Prenatal exposure to progestin causes oxytocin suppression, leading to social deficits in mouse offspring.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Psychiatry
Gil Zukerman, Gili Yahav, Ester Ben-Itzchak
PSYCHIATRY RESEARCH
(2019)
Article
Behavioral Sciences
Ditza A. Zachor, Esther Ben-Itzchak
Article
Behavioral Sciences
Michal Icht, Gil Zukerman, Esther Ben-Itzchak, Boaz M. Ben-David
Summary: Individuals with autism spectrum disorder without intellectual disability (ASD-without-ID) do not significantly differ from matched controls in the identification of simple prosodic emotions, but perform worse in the identification of complex prosodic emotions. Intervention programs may focus on improving performance with complex emotions by leveraging intact abilities in processing simple emotions.
Article
Psychology, Developmental
Nitzan Gabbay-Dizdar, Michal Ilan, Gal Meiri, Michal Faroy, Analya Michaelovski, Hagit Flusser, Idan Menashe, Judah Koller, Ditza A. Zachor, Ilan Dinstein
Summary: Early diagnosis of autism spectrum disorder before the age of 2.5 is significantly associated with improvements in social symptoms, indicating the importance of timely intervention. Younger children diagnosed with autism spectrum disorder benefit more from interventions, emphasizing the need for prioritizing early screening recommended by the American Academy of Pediatrics.
Article
Psychology, Developmental
Michal Ilan, Michal Faroy, Ditza Zachor, Liora Manelis, Danel Waissengreen, Analya Michaelovski, Inbar Avni, Idan Menashe, Judah Koller, Ilan Dinstein, Gal Meiri
Summary: Children with autism spectrum disorder (ASD) are often placed in inclusive mainstream education (ME) or exclusive special education (SE) settings. The study found that children with ASD in both SE and ME settings exhibited similar longitudinal changes in core ASD symptoms.
Article
Pediatrics
Ronit Saban-Bezalel, Einat Avni, Esther Ben-Itzchak, Ditza A. Zachor
Summary: Concerns expressed by parents regarding their child's development are in line with the final diagnosis of autism spectrum disorder, particularly the concerns about deficits in social-emotional reciprocity play a significant role in predicting the diagnosis.
Article
Psychology, Developmental
Esther Ben-tzchak, Ditza A. Zachor
Summary: This study found that dog training intervention can significantly improve adaptive social and communication skills in children with autism spectrum disorder, especially for those with higher pre-intervention adaptive skills, cognitive ability, and less severe autism severity.
Article
Psychology, Clinical
Esther Ben-Itzchak, Judah Koller, Ditza A. Zachor
JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
(2020)
Article
Psychology, Developmental
Esther Ben-Itzchak, Ditza A. Zachor
Article
Psychology, Multidisciplinary
Naama Kenan, Ditza A. Zachor, Linda R. Watson, Esther Ben-Itzchak
FRONTIERS IN PSYCHOLOGY
(2019)
Article
Psychology, Clinical
Esther Ben-Itzchak, Noa Nachshon, Ditza A. Zachor
JOURNAL OF ABNORMAL CHILD PSYCHOLOGY
(2019)