scholarly journals Reduction of cortical parvalbumin expressing GABAergic interneurons in a rodent hyperoxia model of preterm birth brain injury with deficits in social behavior and cognition

Development ◽  
2021 ◽  
Author(s):  
Till Scheuer ◽  
Elena auf dem Brinke ◽  
Sabine Grosser ◽  
Susanne A. Wolf ◽  
Daniele Mattei ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Psychiatric Symptoms ◽  
Autism Spectrum ◽  
Morphological Properties ◽  
Behavioral Deficits ◽  
Hyperactivity Disorder ◽  
Spectrum Disorders ◽  
The Brain ◽  
Psychiatric Problems ◽  
Behavior And Cognition

The inhibitory GABAergic system in the brain is involved in the etiology of various psychiatric problems, including autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), and others. These disorders are influenced not only by genetic but also by environmental factors, such as preterm birth, although the mechanisms underlying are not known. In a translational hyperoxia model, exposing mice pups at age P5 to 80% oxygen for 48 hours to mimic a steep rise of oxygen exposure caused by preterm birth from in utero into room air, we documented a persistent reduction of cortical mature parvalbumin expressing interneurons until adulthood. Developmental delay of cortical myelin was observed together with decreased expression of oligodendroglial glial cell-derived neurotrophic factor (GDNF), a factor being involved in interneuronal development. Electrophysiological and morphological properties of remaining interneurons were unaffected. Behavioral deficits were observed for social interaction, learning, and attention. These results elucidate that neonatal oxidative stress can lead to decreased interneuron density and to psychiatric symptoms. The obtained cortical myelin deficit and decreased oligodendroglial GDNF expression indicate an impaired oligodendroglial-interneuronal interplay contributes to interneuronal damage.

scholarly journals Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity/autism spectrum disorders: A potential new biological diagnostic marker

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Yuki Murakami ◽  
Yukio Imamura ◽  
Kuniaki Saito ◽  
Daisuke Sakai ◽  
Jun Motoyama
Keyword(s):  
Attention Deficit ◽  
Neurodevelopmental Disorders ◽  
Kynurenine Pathway ◽  
Autism Spectrum ◽  
Behavioral Deficits ◽  
Diagnostic Biomarkers ◽  
Hyperactivity Disorder ◽  
Spectrum Disorders ◽  
Almost All ◽  
The Brain

Abstract Deleterious mutations in patchd1 domain containing 1 (PTCHD1) gene have been identified in patients with intellectual disability and/or autism spectrum disorder (ASD). To clarify the causal relationship between Ptchd1 deficiency and behavioral defects relevant to neurodevelopmental disorders, we generated global Ptchd1 knockout (KO) mice. Ptchd1 KO mice displayed hyperlocomotion, increased impulsivity, and lower recognition memory, which resemble attention-deficit hyperactivity disorder (ADHD)-like behaviors. Acute or chronic treatment with atomoxetine ameliorated almost all behavioral deficits in Pthcd1 KO mice. We next determined possible involvement of the kynurenine pathway (KP) metabolites in neurodevelopmental disorders in Ptchd1 KO mice and assessed the potential of KP metabolites as biomarkers for ADHD and/or ASD. Ptchd1 KO mice showed drastic changes in KP metabolite concentrations in the serum and the brain, indicating that the activated KP is associated with ADHD-like behaviors. Our findings indicate that Ptchd1 KO mice can be used as an animal model of human ADHD and/or ASD, and KP metabolites are potential diagnostic biomarkers for neurodevelopmental disorders.

scholarly journals Psychiatric Symptoms in Children With Gross Motor Problems

2012 ◽  
Vol 29 (2) ◽  
pp. 161-178 ◽  
Author(s):  
Claudia Emck ◽  
Ruud J. Bosscher ◽  
Piet C.W. van Wieringen ◽  
Theo Doreleijers ◽  
Peter J. Beek
Keyword(s):  
Psychiatric Symptoms ◽  
Psychosocial Problems ◽  
Stereotyped Behavior ◽  
Autism Spectrum ◽  
Gross Motor ◽  
School Population ◽  
Motor Problems ◽  
Spectrum Disorders ◽  
Attention Deficit Hyperactivity Disorders ◽  
Psychiatric Problems

Children with psychiatric disorders often demonstrate gross motor problems. This study investigates if the reverse also holds true by assessing psychiatric symptoms present in children with gross motor problems. Emotional, behavioral, and autism spectrum disorders (ASD), as well as psychosocial problems, were assessed in a sample of 40 children with gross motor problems from an elementary school population (aged 7 through 12 years). Sixty-five percent of the sample met the criteria for psychiatric classification. Anxiety disorders were found most often (45%), followed by ASD (25%) and attention deficit hyperactivity disorders (15%). Internalizing (51%) and social problems (41%) were prominent, as was “stereotyped behavior” (92%) and “resistance to changes” (92%). Self-perceived incompetence was restricted to domains that were indeed impaired (i.e., the athletic and social domains). The results suggest that children with gross motor problems are strongly at risk for psychiatric problems including anxiety, internalization, and ASD.

scholarly journals Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

2022 ◽  
Vol 12 ◽  
Author(s):  
Takuya Takeichi ◽  
John Y. W. Lee ◽  
Yusuke Okuno ◽  
Yuki Miyasaka ◽  
Yuya Murase ◽  
...  
Keyword(s):  
Tyrosine Kinases ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Autosomal Dominant Disorder ◽  
Behavioral Deficits ◽  
Human Phenotype ◽  
Spectrum Disorders ◽  
Key Aspects ◽  
The Brain

Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been implicated in an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense JAK1 mutation, H596D, in an individual with a unique autoinflammatory keratinization disease associated with early-onset liver dysfunction and autism. Using CRISPR-Cas9 gene targeting, we generated mice with an identical Jak1 knock-in missense mutation (Jak1H595D/+;I596I/+;Y597Y/+ mice) that recapitulated key aspects of the human phenotype. RNA sequencing of samples isolated from the Jak1H595D/+;I596I/+;Y597Y/+ mice revealed the upregulation of genes associated with the hyperactivation of tyrosine kinases and NF-κB signaling. Interestingly, there was a strong correlation between genes downregulated in Jak1H595D/+;I596I/+;Y597Y/+ mice and those downregulated in the brain of model mice with 22q11.2 deletion syndrome that showed cognitive and behavioral deficits, such as autism spectrum disorders. Our findings expand the phenotypic spectrum of JAK1-associated disease and underscore how JAK1 dysfunction contributes to this autoinflammatory disorder.

Disorder-specific alterations of tactile sensitivity in neurodevelopmental disorders

2020 ◽  
Author(s):  
Jason He ◽  
Ericka Wodka ◽  
Mark Tommerdahl ◽  
Richard Edden ◽  
Mark Mikkelsen ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Hyperactivity Disorder ◽  
The Core ◽  
Children With Asd ◽  
Tactile Detection ◽  
Spectrum Disorders ◽  
Sensory Processes ◽  
Core Symptoms

Alterations of tactile processing have long been identified in autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, the extent to which these alterations are disorder-specific, rather than disorder-general, and how they relate to the core symptoms of each disorder, remains unclear. We measured and compared tactile detection, discrimination and order judgment thresholds between a large sample of children with ASD, ADHD, ASD + ADHD combined and typically developing controls. The pattern of results suggested that while difficulties with tactile detection and order judgement were more common in children with ADHD, difficulties with tactile discrimination were more common in children with ASD. Strikingly, subsequent correlation analyses found that the disorder-specific alterations suggested by the group comparisons were also exclusively related to the core symptoms of each respective disorder. These results suggest that disorder-specific alterations of lower-level sensory processes exist and are specifically related to higher-level clinical symptoms of each disorder.

The persistence and stability of psychiatric problems in adolescents with autism spectrum disorders

2012 ◽  
Vol 54 (2) ◽  
pp. 186-194 ◽  
Author(s):  
Emily Simonoff ◽  
Catherine R. G. Jones ◽  
Gillian Baird ◽  
Andrew Pickles ◽  
Francesca Happé ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Adolescents With Autism ◽  
Spectrum Disorders ◽  
Psychiatric Problems

Differentiation of Healthy Individuals from Those with Autism Spectrum Disorders using Information Graph of Complementary Opposites

2020 ◽  
Keyword(s):  
Children With Autism ◽  
Autism Spectrum ◽  
Brain Signals ◽  
Three Stages ◽  
The Mean ◽  
Spectrum Disorders ◽  
Pediatric Psychiatry ◽  
The Brain ◽  
Optimal Feature ◽  
Information Graph

This study aimed to examine the brain signals of children with Autism Spectrum Disorder (ASD) and use a method according to the concept of complementary opposites to obtain the prominent features or a pattern of EEG signal that represents the biological characteristic of such children. In this study, 20 children with the mean±SD age of 8±5 years were divided into two groups of normal control (NC) and ASD. The diagnosis and approval of individuals in both groups were conducted by two experts in the field of pediatric psychiatry and neurology. The recording protocol was designed with the most accuracy; therefore, the brain signals were recorded with the least noise in the awake state of the individuals in both groups. Moreover, the recording was conducted in three stages from two channels (C3-C4) of EEG ( referred to as the central part of the brain) which were symmetrical in function. In this study, the Mandala method was adopted based on the concept of complementary opposites to investigate the features extracted from Mandala pattern topology and obtain new features and pseudo-patterns for the screening and early diagnosis of ASD. The optimal feature here was based on different stages of processing and statistical analysis of Pattern Detection Capability (PDC). The PDC is a biomarker derived from the Mandala pattern for differentiating the NC from ASD groups.

scholarly journals Socioemotional profiles of autism spectrum disorders, attention deficit hyperactivity disorder, and disinhibited and reactive attachment disorders: a symptom comparison and network approach

2021 ◽  
pp. 1-10
Author(s):  
Barry Coughlan ◽  
Matt Woolgar ◽  
Marinus H. van IJzendoorn ◽  
Robbie Duschinsky
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Autism Spectrum Disorders ◽  
Attention Deficit ◽  
Autism Spectrum ◽  
Attachment Disorders ◽  
Hyperactivity Disorder ◽  
Children With Asd ◽  
Significant Difference ◽  
Reactive Attachment ◽  
Spectrum Disorders

Abstract Children with autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD) and disinhibited and reactive attachment disorders (RAD/DAD) often experience socioemotional problems. Elucidating a clear picture of these profiles is essential. Strengths and Difficulties Questionnaires (SDQs) were analysed from cohort of children with ASD (n = 1430), ADHD (n = 1193), and RAD/DAD (n = 39). Kruskal–Wallis Tests and network analytic techniques were used to investigate symptom profiles. Children with ASD experienced more emotional problems, peer problems and fewer prosocial behaviours. Children with ADHD and RAD/DAD had higher levels of hyperactivity and conduct problems. Overall, ASD and ADHD networks were highly correlated (rs = 0.82), and we did not observe a statistically significant difference in terms of global Strength.

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