scholarly journals LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 66
Author(s):  
Raymond A. Clarke ◽  
Valsamma Eapen
Keyword(s):  
Tourette Syndrome ◽  
Neurodevelopmental Disorder ◽  
Strong Association ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Terminal Exon ◽  
Obsessive Compulsive ◽  
Ionotropic Receptor ◽  
Compulsive Disorder ◽  
Mother And Daughter

Tourette syndrome (TS) is a neurodevelopmental disorder characterised by motor and vocal tics and strong association with autistic deficits, obsessive–compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD). The genetic overlap between TS and autism spectrum disorder (ASD) includes those genes that encode the neurexin trans-synaptic connexus (NTSC) inclusive of the presynaptic neurexins (NRXNs) and postsynaptic neuroligins (NLGNs), cerebellin precursors (CBLNs in complex with the glutamate ionotropic receptor deltas (GRIDs)) and the leucine-rich repeat transmembrane proteins (LRRTMs). In this study, we report the first evidence of a TS and ASD association with yet another NTSC gene family member, namely LRRTM4. Duplication of the terminal exon of LRRTM4 was found in two females with TS from the same family (mother and daughter) in association with autistic traits and ASD.

scholarly journals Elevated Expression of SLC6A4 Encoding the Serotonin Transporter (SERT) in Gilles de la Tourette Syndrome

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 86
Author(s):  
Mathis Hildonen ◽  
Amanda M. Levy ◽  
Christina Dahl ◽  
Victoria A. Bjerregaard ◽  
Lisbeth Birk Møller ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Serotonin Transporter ◽  
Neurodevelopmental Disorder ◽  
Control Group ◽  
Obsessive Compulsive ◽  
Expression Levels ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Elevated Expression ◽  
Gene Expression Levels

Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder characterized by motor and vocal tics. Most of the GTS individuals have comorbid diagnoses, of which obsessive-compulsive disorder (OCD) and attention deficit-hyperactivity disorder (ADHD) are the most common. Several neurotransmitter systems have been implicated in disease pathogenesis, and amongst these, the dopaminergic and the serotonergic pathways are the most widely studied. In this study, we aimed to investigate whether the serotonin transporter (SERT) gene (SLC6A4) was differentially expressed among GTS individuals compared to healthy controls, and whether DNA variants (the SERT-linked polymorphic region 5-HTTLPR, together with the associated rs25531 and rs25532 variants, and the rare Ile425Val variant) or promoter methylation of SLC6A4 were associated with gene expression levels or with the presence of OCD as comorbidity. We observed that SLC6A4 expression is upregulated in GTS individuals compared to controls. Although no specific genotype, allele or haplotype was overrepresented in GTS individuals compared to controls, we observed that the LAC/LAC genotype of the 5-HTTLPR/rs25531/rs25532 three-locus haplotype was associated with higher SLC6A4 mRNA expression levels in GTS individuals, but not in the control group.

Emotional response bias, autistic traits and paranormal beliefs in patients with OCD

2021 ◽  
pp. 1-13
Author(s):  
Ayesha Ashraf ◽  
Rabia Iftikhar
Keyword(s):  
Obsessive Compulsive Disorder ◽  
Response Bias ◽  
Emotional Response ◽  
Recognition Task ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Autism Spectrum Quotient ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Paranormal Beliefs

Objective: To find the relationship involving autistic traits, paranormal beliefs and emotional response bias in obsessive compulsive disorder patients. Method: The cross-sectional quasi-experimental study was conducted from November 2017 to November 2018 at the Government College University, Lahore, Pakistan, and comprised patients with obsessive compulsive disorder and healthy controls from the general population aged 20-40 years. Data was collected using the self-reporting Autism Spectrum Quotient, the Revised Paranormal Belief Scale, the Emotional Recognition Task and the Obsessive Compulsive Disorder symptom checklist. Data was analysed using SPSS 20. Results: Of the 140 participants, there were 70(50%) patients and as many controls. Overall, there were 72(52%) males and 68(48%) females. High level of autistic traits (p<0.001) and paranormal beliefs (p<0.001) had a significant impact on obsessive compulsive disorder. Impairments in recognition of emotions were related to the presence of high autistic traits and obsessive compulsive symptoms in the patients group (p<0.05). Emotion of disgust (p<0.001) was significantly impaired in the patients, while the differences were not significant in terms of emotions of happiness and surprise (p>0.05). Conclusion: Autistic traits, paranormal beliefs and emotional response bias were found to have a significant relationship in obsessive compulsive disorder patients.   Continuous....

Differentiating Autism Spectrum Disorder and OCD

2017 ◽  
Author(s):  
Robert E. Accordino ◽  
Philip Bartel ◽  
Isobel W. Green ◽  
Christen L. Kidd ◽  
Christopher J. McDougle
Keyword(s):  
Autism Spectrum Disorder ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Obsessive Compulsive ◽  
Communicative Behavior ◽  
Compulsive Disorder ◽  
Communication Difficulties ◽  
Social Communicative

This chapter explores the overlapping clinical presentation and shared genetics and neurobiology of autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD). ASD often presents with repetitive behaviors reminiscent of OCD, whereas OCD, at times, can include autistic traits involving social and communication difficulties. This can lead to difficult diagnostic distinctions, which can at times have relevance to treatment. The distinction between compulsions and autistic stereotypies merits particular discussion. Clinical features that should lead to exploration of a diagnosis of ASD include stereotypies such as hand flapping, body rocking or twirling; fixed interests or preoccupations that are ego-syntonic; and impaired social-communicative behavior.

Co-occurrence of Obsessive-Compulsive Disorder and Autism Spectrum Disorder

2021 ◽  
pp. 332-351
Author(s):  
Saashi A. Bedford ◽  
Michelle Hunsche ◽  
Connor M. Kerns
Keyword(s):  
Autism Spectrum Disorder ◽  
Obsessive Compulsive Disorder ◽  
Social Communication ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Communication Deficits

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and, similar to obsessive-compulsive disorder (OCD), restricted and repetitive behaviors. The restricted, repetitive patterns of behaviors and interests that are characteristic of ASD often resemble the obsessions and compulsions of OCD, which can make it difficult to distinguish or differentiate the two conditions. A common challenge in diagnosing comorbid ASD and OCD is the apparent overlap in symptoms between the two disorders. This chapter discusses the differentiation between OCD and ASD, the assessment and diagnosis of OCD within the context of ASD, and the treatment of this presentation of OCD.

Phenotype Development in Adolescents With Tourette Syndrome: A Large Clinical Longitudinal Study

2017 ◽  
Vol 32 (13) ◽  
pp. 1047-1057 ◽  
Author(s):  
Camilla Groth ◽  
Nanette Mol Debes ◽  
Liselotte Skov
Keyword(s):  
Longitudinal Study ◽  
Tourette Syndrome ◽  
Wide Spectrum ◽  
Neurodevelopmental Disorder ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Age Related ◽  
Impairment Score ◽  
Tic Severity ◽  
Motor Tics

Tourette syndrome (TS) is a neurodevelopmental disorder characterized by frequent comorbidities and a wide spectrum of phenotype presentations. This study aimed to describe the development of phenotypes in TS and tic-related impairment in a large longitudinal study of 226 children and adolescents followed up after 6 years. The participants were clinically examined to assess tic severity and impairment, obsessive compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). The development in phenotypes changed toward less comorbidity with 40% TS-only (no OCD or ADHD) (TS without OCD or ADHD) at baseline and 55% at follow-up.Tic-related impairment was expected to improve with an age-related tic decline, but surprisingly the impairment score did not reflect the tic decline. Sex, vocal and motor tics, and OCD and ADHD severity were highly significantly correlated to the impairment score. Knowledge of TS phenotype development is used in clinical settings to guide patients and for genetic, etiological, and clinical research purposes.

scholarly journals Is “not just right experience” (NJRE) in obsessive-compulsive disorder part of an autistic phenotype?

CNS Spectrums ◽  
2016 ◽  
Vol 22 (1) ◽  
pp. 41-50 ◽  
Author(s):  
Josselyn Hellriegel ◽  
Caroline Barber ◽  
Maheshi Wikramanayake ◽  
Naomi A. Fineberg ◽  
William Mandy
Keyword(s):  
Obsessive Compulsive Disorder ◽  
Sensory Processing ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Set Shifting ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Correlational Design ◽  
Broader Phenotype ◽  
Just Right

ObjectiveHarm avoidance (HA) and “not just right experience” (NJRE) have been proposed to be 2 core motivational processes underlying obsessive-compulsive disorder (OCD). The objective of this study was to explore whether NJRE demarcates a neurodevelopmental OCD subgroup distinct from HA related to autistic traits and/or to a broader phenotype of cognitive rigidity and sensory processing difficulties associated with an earlier age of OCD onset.MethodsA correlational design investigated whether NJRE and HA are distinct entities in OCD and explored their relationship to autism spectrum disorder (ASD) traits measured by the Autism Quotient (AQ), sensory processing, set-shifting, and age of OCD onset in an OCD sample (N=25).ResultsNJRE was only moderately (r=.34) correlated to HA and not significant in this study. Consistent with predictions, NJRE was associated with sensory processing difficulties and an earlier age of OCD onset. No significant relationships were found between NJRE and ASD traits as measured by the AQ or set-shifting difficulties.ConclusionsThese preliminary findings suggest a lack of evidence demonstrating NJRE as a manifestation of core autistic traits as measured by the AQ. However, NJRE was associated with sensory abnormalities and an earlier age of OCD onset. The role of NJRE as a developmental, and possibly neurodevelopmental, risk factor for OCD possibly warrants further investigation.

scholarly journals Cross-disorder GWAS meta-analysis for Attention Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Obsessive Compulsive Disorder, and Tourette Syndrome

2019 ◽  
Author(s):  
Zhiyu Yang ◽  
Hanrui Wu ◽  
Phil H. Lee ◽  
Fotis Tsetsos ◽  
Lea K. Davis ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Attention Deficit Hyperactivity Disorder ◽  
Obsessive Compulsive Disorder ◽  
Tourette Syndrome ◽  
Attention Deficit ◽  
Meta Analysis ◽  
Autism Spectrum ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder

AbstractAttention Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), Obsessive-Compulsive Disorder (OCD), and Tourette Syndrome (TS) are among the most prevalent neurodevelopmental psychiatric disorders of childhood and adolescence. High comorbidity rates across these four disorders point toward a common etiological thread that could be connecting them across the repetitive behaviors-impulsivity-compulsivity continuum. Aiming to uncover the shared genetic basis across ADHD, ASD, OCD, and TS, we undertake a systematic cross-disorder meta-analysis, integrating summary statistics from all currently available genome-wide association studies (GWAS) for these disorders, as made available by the Psychiatric Genomics Consortium (PGC) and the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH). We present analysis of a combined dataset of 93,294 individuals, across 6,788,510 markers and investigate associations on the single-nucleotide polymorphism (SNP), gene and pathway levels across all four disorders but also pairwise. In the ADHD-ASD-OCD-TS cross disorder GWAS meta-analysis, we uncover in total 297 genomewide significant variants from six LD (linkage disequilibrium) -independent genomic risk regions. Out of these genomewide significant association results, 199 SNPs, that map onto four genomic regions, show high posterior probability for association with at least three of the studied disorders (m-value>0.9). Gene-based GWAS meta-analysis across ADHD, ASD, OCD, and TS identified 21 genes significantly associated under Bonferroni correction. Out of those, 15 could not be identified as significantly associated based on the individual disorder GWAS dataset, indicating increased power in the cross-disorder comparisons. Cross-disorder tissue-specificity analysis implicates the Hypothalamus-Pituitary-Adrenal axis (stress response) as possibly underlying shared pathophysiology across ADHD, ASD, OCD, and TS. Our work highlights genetic variants and genes that may contribute to overlapping neurobiology across the four studied disorders and highlights the value of re-defining the framework for the study across this spectrum of highly comorbid disorders, by using transdiagnostic approaches.

scholarly journals Networks in the Field of Tourette Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Alexander Kleimaker ◽  
Maximilian Kleimaker ◽  
Amelie Behm ◽  
Anne Weissbach ◽  
Tobias Bäumer ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Genetic Factors ◽  
Neurodevelopmental Disorder ◽  
Obsessive Compulsive ◽  
Genetic Studies ◽  
Compulsive Disorder ◽  
Hyperactivity Disorder ◽  
Large Numbers ◽  
Clinical Phenomenology ◽  
External Stimuli

Gilles de la Tourette syndrome (TS) is a neuropsychiatric neurodevelopmental disorder with the cardinal clinical features of motor and phonic tics. Clinical phenomenology can be complex since, besides tics, there are other features including premonitory urges preceding tics, pali-, echo-, and coprophenomena, hypersensitivity to external stimuli, and symptom dependency on stress, attention, and other less well-defined factors. Also, the rate of comorbidities, particularly attention deficit hyperactivity disorder and obsessive-compulsive disorder, is high. Mirroring the complexities of the clinical course and phenomenology, pathophysiological findings are very diverse, and etiology is disputed. It has become clear, though, that abnormalities in the basal ganglia and their connections with cortical areas are key for the understanding of the pathophysiology and as regards etiology, genetic factors are crucial. Against this background, both adequate clinical management of TS and TS-related research require multidisciplinary preferably international cooperation in larger groups or networks to address the multiple facets of this disorder and yield valid and useful data. In particular, large numbers of patients are needed for brain imaging and genetic studies. To meet these requirements, a number of networks and groups in the field of TS have developed over the years creating an efficient, lively, and supportive international research community. In this review, we will provide an overview of these groups and networks.

scholarly journals Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder

2020 ◽  
Vol 10 (5) ◽  
pp. 308 ◽  
Author(s):  
Mariangela Gulisano ◽  
Rita Barone ◽  
Salvatore Alaimo ◽  
Alfredo Ferro ◽  
Alfredo Pulvirenti ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Children And Adolescents ◽  
Tourette Syndrome ◽  
Rating Scale ◽  
Large Population ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Obsessive Compulsive ◽  
Compulsive Disorder

Gilles de la Tourette syndrome (GTS) and autism spectrum disorder (ASD) are two neurodevelopmental disorders with male predominance, frequently comorbid, that share clinical and behavioral features. The incidence of ASD in patients affected by GTS was reported to be between 2.9% and 22.8%. We hypothesized that higher ASD rates among children affected by GTS previously reported may be due to difficulty in discriminating GTS sub-phenotypes from ASD, and the higher scores in the restrictive and repetitive behaviors in particular may represent at least a “false comorbidity”. We studied a large population of 720 children and adolescents affected by GTS (n = 400) and ASD (n = 320), recruited from a single center. Patients were all assessed with The Yale Global Tic Severity Rating Scale (YGTSS), The Autism Diagnostic Observation Schedule (ADOS), The Autism Diagnostic Interview Revised (ADI-R), The Children’s Yale–Brown Obsessive–Compulsive Scale (CY-BOCS), and The Children’s Yale–Brown Obsessive–Compulsive Scale for autism spectrum disorder (CY-BOCS ASD). Our results showed statistically significant differences in ADOS scores for social aspects between GTS with comorbid attention deficit hyperactivity disorder (ADHD) and obsessive–compulsive disorder (OCD) sub-phenotypes and ASD. No differences were present when we compared GTS with comorbid ASD sub-phenotype to ASD, while repetitive and restrictive behavior scores in ASD did not present statistical differences in the comparison with GTS and comorbid OCD and ASD sub-phenotypes. We also showed that CY-BOCS ASD could be a useful instrument to correctly identify OCD from ASD symptoms.

scholarly journals Investigation of gene–environment interactions in relation to tic severity

2021 ◽  
Author(s):  
Mohamed Abdulkadir ◽  
Dongmei Yu ◽  
Lisa Osiecki ◽  
Robert A. King ◽  
Thomas V. Fernandez ◽  
...  
Keyword(s):  
Tourette Syndrome ◽  
Association Studies ◽  
Autism Spectrum ◽  
Environment Interaction ◽  
Genome Wide Association Studies ◽  
Nucleotide Polymorphisms ◽  
Linear Regression Models ◽  
Compulsive Disorder ◽  
Gene Environment ◽  
Tic Severity

AbstractTourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N = 518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive–compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main effects of the SNPs on tic severity, and the interaction effect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of significance (after correcting for multiple testing) in a replication sample (N = 678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was significantly related to higher tic severity. We found a gene–environment interaction for rs6539267, another top TS GWAS SNP. These findings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene–environment studies.

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