Cognitive Tic-Like Phenomena in Gilles de la Tourette Syndrome

Coprolalia and echophenomena repeated in the patients’ mind (CTPh—cognitive tic-like phenomena) have been rarely recognized as part of Gilles de la Tourette syndrome (GTS) symptomatology and their assignment to tics, OCD or other psychopathologies has not been settled. The aim of the paper was to assess the incidence and clinical associations of CTPh in GTS, and to establish if CTPh belong to the tic spectrum. We performed a prospective, one-registration study on a cohort of 227 consecutive patients with GTS. CTPh were diagnosed during the interview and defined as brief, sudden, involuntary thoughts that had corresponding complex vocal tics. CTPh occurred at some point in the lives of 34 (15.0%) patients. The median age at onset of CTPh was 14.5 years (IQR: 10.5–17.5). CTPh were found more frequently in adults, with the most frequent onset in adolescence (44.1%). Four mental phenomena resembling tics were recognized: echolalia (n = 17), coprolalia (n = 16), palilalia (n = 13) and repeating of words in the mind (n = 7). The older the age of patients, the more severe tics, and anxiety disorder significantly correlated with CTPh. CTPh may be considered as a part of tic spectrum with a substantial impact of anxiety disorder. CTPh are a late and age-related symptom of GTS.

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Cognitive tics in Gilles de la Tourette syndrome

10.21203/rs.3.rs-22390/v1 ◽

2020 ◽

Author(s):

Anna Dunalska ◽

Piotr Janik ◽

Natalia Szejko ◽

Andrzej Jakubczyk

Keyword(s):

Anxiety Disorder ◽

Tourette Syndrome ◽

Statistical Significance ◽

Age At Onset ◽

Multivariable Analysis ◽

Age Groups ◽

Substantial Impact ◽

Age Related ◽

Tic Severity ◽

Vocal Tics

Abstract BACKGROUND Gilles de la Tourette syndrome (GTS) is characterized by motor and vocal tics. Cognitive tics (CTs) have been rarely recognized as part of GTS symptomatology and their prevalence and associates have not been systematically investigated. OBJECTIVES The aim of the study was to assess the incidence and clinical associations of CTs in a group of patients with GTS. METHODS We examined 227 consecutive GTS patients aged 5–50 years old (78.4% males). The median duration of GTS was 4 years (IQR: 3–7) in children and 18 years (IQR: 12–23) in adults. The patients were evaluated for GTS and comorbid mental disorders according to the DSM-IV-TR and DSM-5. CTs were defined as brief, sudden, recurring involuntary thoughts, analogous to typically recognized complex vocal tics and diagnosed during the interview. Correlations between CTs and clinical variables were evaluated in two analyses, lifetime and current. Children and adult groups were compared. RESULTS Lifetime CTs were reported by 48 patients (21.1%), in 33 of the cases at the time of evaluation. The median age at onset of CTs was 13.5 years (IQR 9.3–16). Five mental phenomena were evaluated: echolalia (n = 17), coprolalia (n = 16), palilalia (n = 13), counting (n = 11), repeating of words in mind (n = 7). In the multivariable analysis of lifetime CTs, tic severity (p = 0.025) and significant social skill problems (p = 0.050) demonstrated correlation, while for current CTs only tic severity (p = 0.028) and anxiety disorder (p = 0.028) remained significant. In logistic regression model for age groups, in children only age was a factor significantly associated with lifetime CTs (p = 0.033), whereas in adults there were no statistically significant associations with lifetime CTs. For current CTs, none of the variables reached statistical significance in children, while only anxiety disorder was a predictor of current CTs in adults (p = 0.018). CONCLUSIONS CTs are a part of tic spectrum with a substantial impact of comorbid psychiatric disorders. CTs are a late and age-related symptom of GTS.

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All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report

Dementia & Neuropsychologia ◽

10.1590/s1980-5764-2016dn1003014 ◽

2016 ◽

Vol 10 (3) ◽

pp. 251-253 ◽

Cited By ~ 2

Author(s):

Raquel Quimas Molina da Costa ◽

Rogério Paysano Marrocos ◽

Marco Antonio Araujo Leite ◽

Fabio Henrique Gobbi Porto

Keyword(s):

Case Report ◽

Tourette Syndrome ◽

Poor Response ◽

Extrapyramidal Symptoms ◽

Response To Treatment ◽

Pantothenate Kinase ◽

Atypical Form ◽

Psychiatric Problems ◽

Vocal Tics

ABSTRACT The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.

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Early-Onset Parkinson Disease Screening in Patients From Nigeria

Frontiers in Neurology ◽

10.3389/fneur.2020.594927 ◽

2021 ◽

Vol 11 ◽

Author(s):

Lukasz M. Milanowski ◽

Olajumoke Oshinaike ◽

Benjamin J. Broadway ◽

Jennifer A. Lindemann ◽

Alexandra I. Soto-Beasley ◽

...

Keyword(s):

Functional Analysis ◽

Parkinson Disease ◽

Neurodegenerative Diseases ◽

Early Onset ◽

Local Population ◽

Age At Onset ◽

Compound Heterozygous ◽

Loss Of Function ◽

African Countries ◽

Age Related

Introduction: Nigeria is one of the most populated countries in the world; however, there is a scarcity of studies in patients with age-related neurodegenerative diseases, such as Parkinson disease (PD). The aim of this study was to screen patients with PD including a small cohort of early-onset PD (EOPD) cases from Nigeria for PRKN, PINK1, DJ1, SNCA multiplication, and LRRK2 p.G2019S.Methods: We assembled a cohort of 109 Nigerian patients with PD from the four main Nigerian tribes: Yoruba, Igbo, Edo, and Hausa. Fifteen cases [14 from the Yoruba tribe (93.3%)] had EOPD (defined as age-at-onset <50 years). All patients with EOPD were sequenced for the coding regions of PRKN, PINK1, and DJ1. Exon dosage analysis was performed with a multiplex ligation-dependent probe amplification assay, which also included a SNCA probe and LRRK2 p.G2019S. We screened for LRRK2 p.G2019S in the entire PD cohort using a genotyping assay. The PINK1 p.R501Q functional analysis was conducted.Results: In 15 patients with EOPD, 22 variants were observed [PRKN, 9 (40.9%); PINK1, 10 (45.5%); and DJ1, 3 (13.6%)]. Three (13.6%) rare, nonsynonymous variants were identified, but no homozygous or compound heterozygous carriers were found. No exonic rearrangements were present in the three genes, and no carriers of SNCA genomic multiplications or LRRK2 p.G2019S were identified. The PINK1 p.R501Q functional analysis revealed pathogenic loss of function.Conclusion: More studies on age-related neurodegenerative diseases are needed in sub-Saharan African countries, including Nigeria. Population-specific variation may provide insight into the genes involved in PD in the local population but may also contribute to larger studiesperformed in White and Asian populations.

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Challenging perspectives on Gilles de la Tourette Syndrome – evidence for a disorder of purposeful actions

10.13056/acamh.10610 ◽

2019 ◽

Keyword(s):

Tourette Syndrome ◽

Developmental Disorder ◽

Self Esteem ◽

Vocal Tics

Gilles de la Tourette Syndrome (GTS) is a multi-faceted neuropsychiatric developmental disorder with onset in childhood or adolescence. It is characterised by multiple motor and vocal tics that can cause considerable problems including social stigmatisation, low self-esteem and secondary comorbidity, particularly depression.

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Blocking Tics in Gilles de la Tourette Syndrome

Frontiers in Neurology ◽

10.3389/fneur.2021.686785 ◽

2021 ◽

Vol 12 ◽

Author(s):

Justyna Kaczyńska ◽

Piotr Janik

Keyword(s):

Obsessive Compulsive Disorder ◽

Tourette Syndrome ◽

Age Of Onset ◽

Severe Form ◽

Obsessive Compulsive ◽

Compulsive Disorder ◽

Clinical Correlates ◽

Clinical Associations ◽

Motor Acts

Introduction: Patients with Gilles de la Tourette syndrome (GTS) may experience blocking tics (BTs) defined as recurrent, brief cessations of motor acts. The aim of this study was to assess the prevalence, age of onset, and clinical correlates of BTs in GTS patients.Materials and Methods: We performed a one-time registration study in a cohort of 195 consecutive GTS patients aged 5–66 years (mean age: 15.0 ± 9.2; 47 females, 24.1%). All patients were personally interviewed and examined.Results: At least one BT occurred at some point in the lifetime of 73 patients (37.4%) with a mean age of onset of 10.4 ± 5.9 years. BTs occurred an average of 4.8 ± 5.3 years after tic onset. The most common BT was cessation of walking (n = 59, 80.8%), followed by speech (n = 19, 26.0%), running (n = 18, 24.7%), and writing (n = 9, 12.3%). Most of the patients (n = 52, 71.2%) reported cessation of only one activity. Clinical associations of BTs included more severe tics, overall greater number of tics, and, to a lesser extent, higher age at evaluation and comorbid obsessive-compulsive disorder.Conclusions: BTs represent complex tics, early and common symptoms of GTS, and are associated with a more severe form of GTS.

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Entrainment, theory of mind, and prosociality in child musicians

Music & Science ◽

10.1177/2059204317753153 ◽

2018 ◽

Vol 1 ◽

pp. 205920431775315 ◽

Cited By ~ 4

Author(s):

Beatriz Ilari ◽

Cara Fesjian ◽

Assal Habibi

Keyword(s):

Theory Of Mind ◽

Music Education ◽

Social Cognitive ◽

Age At Onset ◽

Group Differences ◽

Control Group ◽

Prosocial Skills ◽

Significant Group ◽

Sports Programs ◽

The Mind

In this study, we tracked the development of rhythmic entrainment, prosociality, and theory of mind skills in children attending music and sports programs and in a control group over the course of three years. Forty-five children (mean age at onset = 81 months) drummed in two contextual conditions – alone and social – completed the Reading the Mind in the Eyes test and prosocial tasks (helping and sharing). All children improved in their ability to entrain to external rhythms over time, with the music group outperforming controls in the entrainment-social condition. Developmental effects were found for theory of mind, but no significant group differences. Although there were no significant group differences for prosociality, following three years of music education, entrainment scores in the alone condition were positively correlated with the number of stickers that children in the music group gave to friends. Results are discussed in light of the nature of collective music learning through ensemble participation and its role in the development of social-cognitive and prosocial skills in childhood.

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CHIP & HIPs: Clonal Hematopoiesis is Common in Hip Arthroplasty Patients and Associates with Autoimmune Disease

Blood ◽

10.1182/blood.2020010163 ◽

2021 ◽

Author(s):

Judith S. Hecker ◽

Luise Hartmann ◽

Jennifer Rivière ◽

Michèle Constanze Buck ◽

Mark van der Garde ◽

...

Keyword(s):

Hip Arthroplasty ◽

Inflammatory Diseases ◽

Low Grade ◽

Related Condition ◽

Clonal Hematopoiesis ◽

Mild Anemia ◽

Age Related ◽

Mutation Burden ◽

Clinical Associations ◽

Low Grade Inflammation

Clonal hematopoiesis (CH) is an age-related condition predisposing to blood cancer and cardiovascular disease (CVD). Murine models demonstrate CH-mediated altered immune function and proinflammation. Low-grade inflammation has been implicated in the pathogenesis of osteoarthritis (OA), the main indication for total hip arthroplasty (THA). THA-derived hip bones serve as a major source of 'healthy' hematopoietic cells in experimental hematology. We prospectively investigated frequency and clinical associations of CH in 200 patients without known hematologic disease undergoing THA. Prevalence of CH was 50%, including 77 patients with CH of indeterminate potential (CHIP, defined as somatic variants with allele frequencies [VAF] ≥2%), and 23 patients harboring CH with lower mutation burden (VAF 1-2%). Most commonly mutated genes were DNMT3A (29.5%), TET2 (15.0%) and ASXL1 (3.5%). CHIP significantly associated with lower hemoglobin, higher mean corpuscular volume, prior/present malignant disease, and CVD. Strikingly, we observed a previously unreported association of CHIP with autoimmune diseases (AID; multivariate adjusted odds ratio, 6.6; 95% confidence interval [1.7, 30]; p=0.0081). These findings underscore the association between CH and inflammatory diseases. Our results have considerable relevance for management of patients with OA and AID or mild anemia, and question use of hip bone-derived cells as 'healthy' experimental controls.

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Obsessive–compulsive disorder: subclassification based on co-morbidity

Psychological Medicine ◽

10.1017/s0033291708004753 ◽

2008 ◽

Vol 39 (9) ◽

pp. 1491-1501 ◽

Cited By ~ 60

Author(s):

G. Nestadt ◽

C. Z. Di ◽

M. A. Riddle ◽

M. A. Grados ◽

B. D. Greenberg ◽

...

Keyword(s):

Anxiety Disorder ◽

Obsessive Compulsive Disorder ◽

Clinical Characteristics ◽

Latent Class ◽

Age At Onset ◽

Separation Anxiety Disorder ◽

Obsessive Compulsive ◽

Compulsive Disorder ◽

Co Morbidity ◽

The Relationship

BackgroundObsessive–compulsive disorder (OCD) is probably an etiologically heterogeneous condition. Many patients manifest other psychiatric syndromes. This study investigated the relationship between OCD and co-morbid conditions to identify subtypes.MethodSeven hundred and six individuals with OCD were assessed in the OCD Collaborative Genetics Study (OCGS). Multi-level latent class analysis was conducted based on the presence of eight co-morbid psychiatric conditions [generalized anxiety disorder (GAD), major depression, panic disorder (PD), separation anxiety disorder (SAD), tics, mania, somatization disorders (Som) and grooming disorders (GrD)]. The relationship of the derived classes to specific clinical characteristics was investigated.ResultsTwo and three classes of OCD syndromes emerge from the analyses. The two-class solution describes lesser and greater co-morbidity classes and the more descriptive three-class solution is characterized by: (1) an OCD simplex class, in which major depressive disorder (MDD) is the most frequent additional disorder; (2) an OCD co-morbid tic-related class, in which tics are prominent and affective syndromes are considerably rarer; and (3) an OCD co-morbid affective-related class in which PD and affective syndromes are highly represented. The OCD co-morbid tic-related class is predominantly male and characterized by high conscientiousness. The OCD co-morbid affective-related class is predominantly female, has a young age at onset, obsessive–compulsive personality disorder (OCPD) features, high scores on the ‘taboo’ factor of OCD symptoms, and low conscientiousness.ConclusionsOCD can be classified into three classes based on co-morbidity. Membership within a class is differentially associated with other clinical characteristics. These classes, if replicated, should have important implications for research and clinical endeavors.

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