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At least 19 recordsLinked to original sources
PubMed2022

Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders.

BACKGROUND: Recent studies report an important-and previously underestimated-role of rare variation in risk of obsessive-compulsive disorder (OCD) and chronic tic disorders (CTD). Using data from a large epidemiological study, we evaluate the distribution of potentially damaging copy number variation (pdCNV) in OCD and CTD, examining associations between pdCNV and the phenotypes of probands, including a consideration of early- vs. late-diagnoses. METHOD: The Obsessive-Compulsive Inventory-Revised (OCI-R) questionnaire was used to ascertain psychometric profiles of OCD probands. CNV were identified genome-wide using chromosomal microarray data. RESULTS: For 993 OCD cases, 86 (9%) were identified as pdCNV carriers. The most frequent pdCNV found was at the 16p13.11 region. There was no significant association between pdCNV and the OCI-R total score. However, pdCNV was associated with Obsessing and Checking subscores. There was no significant difference in pdCNV frequency between early- vs. late-diagnosed OCD probands. Of the 217 CTD cases, 18 (8%) were identified as pdCNV carriers. CTD probands with pdCNV were significantly more likely to have co-occurring autism spectrum disorder (ASD). CONCLUSIONS: pdCNV represents part of the risk architecture for OCD and CTD. If replicated, our findings suggest pdCNV impact some OCD symptoms. Genes within the 16p13.11 region are potential OCD risk genes.

Humans↗
PubMed2026

Persistent tic disorders are associated with 17q12 duplications.

Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability. Due to current sample size limitations, identifying TS/PTD risk genes has been challenging. This study addressed this issue by conducting a meta-analysis of microarray copy number variant (CNV) studies from three TS/PTD genomics consortia, supplemented with new data from 3291 cases. This approach more than doubled the sample size of previous TS/PTD CNV studies, with CNV calls generated from 5725 TS/PTD cases and 10,982 matched controls. The results confirmed that TS/PTD cases 1) have a higher burden of ultra-rare deletions overlapping loss-of-function intolerant genes (OR = 1.68, P = 9.3×10-5) and 2) are more likely to carry established neurodevelopmental CNVs (OR = 1.42, P = 3.9×10-2) compared to controls. Additionally, a novel, genome-wide significant CNV locus for TS/PTD was discovered, involving duplications at 17q12 (hg19 chr17:34.8 - 36.2 Mb). This locus is associated with a known duplication syndrome associated with variable neuropsychiatric traits, but has not been previously linked to tic disorders. Eight cases and one control carried the canonical ~1.4 Mb duplication at chr17:34.8-36.2 Mb, while one additional case had a smaller 110 kb duplication within this known CNV that included only one gene, ACACA (acetyl-CoA carboxylase, OR = 26.7, P = 5.69×10-7). Overall, this study provides further evidence that rare, genic CNVs play a substantial role in the genetic architecture of TS/PTD and identifies a new genome-wide significant association with this neurodevelopmental disorder.

Journal Article↗
PubMed1979

Otolaryngologic presentation of tic-like disorders.

Common otolaryngologic symptoms such as coughing and sneezing may not be manifestations of disease of the upper respiratory tract. Two cases are reported in which these symptoms were the first evidence of tic-like disorders. A short discussion of one such disorder, Gilles de la Tourette's syndrome, is presented. The entity of paroxysmal sneezing is also mentioned. It is pointed out that, in the absence of otolaryngologic disease, these disorders may first present to an otolaryngologist for diagnosis.

Child↗
PubMed2026

[Tics and Tourette Syndrome].

Tics disorders and Tourette syndrome (TS) are neurodevelopmental conditions characterized by motor and/or vocal tics with onset in childhood. Their clinical presentation is heterogeneous and fluctuating over time, with exacerbations related to emotional, environmental, and medical factors. Diagnosis is clinical and based on medical history and neurological examination, following DSM-5-TR criteria, with ancillary testing rarely required. The prevalence of TS is estimated at 0.7%, while transient tic disorders affect up to 10% of children. The natural history is generally favorable, with symptom improvement during adolescence, although a subset of patients continues to experience tics into adulthood. Most individuals with TS present psychiatric comorbidities, particularly attention-deficit/hyperactivity disorder and obsessive-compulsive disorder, which significantly impact quality of life and should be prioritized in management decisions. Treatment is recommended only when tics cause functional impairment and follows a stepwise approach including psychoeducation, behavioral interventions, and individualized pharmacological therapy. Comprehensive behavioral intervention for tics is considered first-line treatment when available. Alpha-2 adrenergic agonists and dopamine antagonists are the most commonly used pharmacological options. Neuromodulation therapies are reserved for severe, refractory cases. These recommendations from the Ibero-American Academy of Pediatric Neurology summarize current evidence and provide a practical, updated framework for the diagnosis and management of tic disorders and Tourette syndrome in pediatric patients.

Humans↗
PubMed1978

Chronic, multiple tics of Gilles de la Tourette's disease. CSF acid monoamine metabolites after probenecid administration.

Central nervous system metabolism in six children and one adult with the syndrome of chronic multiple tics was studied by measuring the accumulation of acid metabolites of dopamine and serotonin (homovanillic acid [HVA] and 5-hydroxyindole-acetic acid [5-HIAA], respectively) in the CSF following probenecid administration. The accumulation of 5-HIAA was reduced in patients with multiple tics in contrast with other pediatric patients (N = 27). The degree of reduction in 5-HIAA relative to HVA appeared to be associated with the severity of the tic disorder. With dextroamphetamine, tic symptoms worsened, CSF HVA level decreased, and CSF 5-HIAA concentration increased. These findings suggest an association in Gilles de la Tourette's disease of reduced functioning of inhibitory serotonergic mechanisms and functional dopaminergic overactivity.

Adolescent↗
PubMed2026

Psychiatric and neurological predictors of early ADHD medication discontinuation across the lifespan: a multinational study.

BACKGROUND: Early discontinuation of attention-deficit/hyperactivity disorder (ADHD) medication is common and linked to worse outcomes. Identifying clinical predictors could aid personalised treatment yet evidence is inconsistent across ages and countries/regions. OBJECTIVE: Investigate psychiatric and neurological comorbidity as predictors of early ADHD medication discontinuation in new ADHD medication users across age groups, sex and countries/regions. METHODS: Using health records from eight countries/regions, we identified 1 000 411 (44% female) new ADHD medication users (2011-2020). Discontinuation was defined as a ≥180 day gap between dispensations. We examined 23 indicators of psychiatric or neurological comorbidity, severity and psychotropic medication use. Associations were estimated using Cox regression, pooled with random-effects meta-analyses and stratified by age-at-initiation and sex. FINDINGS: Discontinuation rates varied widely (children 19%-61%, adolescents 37%-68%, young adults 52-67%, adults 38%-68%). In pooled analyses, earlier discontinuation in children was predicted by intellectual disability, autism and use of psychotropic medications (HR range 1.32-1.51), while conduct/oppositional defiant disorder (CD/ODD) was protective (HR 0.83, 95% CI 0.73 to 0.94). In adolescents, no indicators remained statistically significant after multiple-testing control. In young adults, CD/ODD (HR 1.42, 95% CI 1.30 to 1.55), and in adults, schizophrenia (HR 1.25, 95% CI 1.09 to 1.44) and tic disorders (HR 1.27, 95% CI 1.11 to 1.46) predicted earlier discontinuation. Statistical heterogeneity was substantial, largely driven by US estimates. In meta-analyses excluding the USA, additional associations emerged. For example, in children, OCD and anxiety disorders predicted earlier discontinuation, while eating disorders and antidepressants/anxiolytics were protective in adults. Associations with schizophrenia, tic disorders and CD/ODD were no longer significant. Country-specific analyses showed similar association patterns, except in the USA, Hong Kong and the UK. Sex differences were limited. CONCLUSIONS: Children with neuropsychiatric comorbidity and related comedication are more likely to discontinue ADHD medication early, whereas few consistent predictors were seen from adolescence onwards. Marked cross-country variation, particularly in the USA, points to system-level influences on treatment patterns. CLINICAL IMPLICATIONS: Improving ADHD medication persistence will require consideration of healthcare context and age-specific strategies, including close monitoring for children with complex neuropsychiatric profiles, and consideration of broader factors in adolescents and adults, where clinical predictors were limited.

Humans↗
PubMed1978

Tics and Tourette's: a continuum of symptoms?

Analysis of the families of 39 unselected children with Tourette syndrome revealed other members with tic disorders in twenty kindreds. In eight families there were 13 individuals with chronic multiple tics, usually motor, not vocal. Twelve different families contained 18 subjects with Tourette syndrome other than the index patient. In three of these families there were 6 additional individuals with chronic motor tics, forming a bridge to the first group. An autosomal dominant mode of inheritance was suggested in all cases. Tourette syndrome and chronic motor tics appear to represent conditions along a continuum and have, in many instances, a hereditary basis.

Child↗
PubMed1977

The use of methylphenidate and imipramine in Gilles de la Tourette's disease in children.

The authors treated two children with Gilles de la Tourette's disease and one child with a probable combination of Gilles de la Tourette's disease and minimal brain dysfunction with methylphenidate, which resulted in exacerbation of symptoms. One child was briefly treated with imipramine, with similar results. The authors suggest that these pharmacologic agents should be used cautiously in treating patients with possible movement disorders (tics) and conclude that their findings lend support to the catecholamine hypothesis of the etiology of Gilles de la Tourette's disease.

Acute Disease↗
PubMed1976

[Nonaneurysmal vascular pressure lesions of the cranial nerves (author's transl)].

Four cases of facial spasm and 1 case of oculomotor paresis are described. The source of the disorder in all 5 cases is mostlikely not an aneurysm of the vessels of the base of the brain. The literature is discussed and thereby it is shown that mechanical disturbances of other cranial nerves (II, V, VI, IX, XII) can be caused by similar vascular (nonaneurysmal) abnormalities.

Aged↗
PubMed1978

Diagnostic problems in extrapyramidal disorders.

The diagnostic problems of extrapyramidal disorders (ED) are reviewed. Many of the wide range of ED occur rarely, and clinical experience is difficult to obtain. Despite great advances in pathophysiology and pathological anatomy the diagnosis of ED is still mainly a clinical diagnosis, and the diagnostic problems are discussed principally in relation to the involuntary movements and partly with regard to muscle tone. Except in a few diseases, biochemical and microbiological analyses, EEG, EMG and X-ray examinations offer little contribution to the solution of diagnostic problems in these disorders.

Adult↗
PubMed1979

Meiges disease: a clinical form of facial convulsion, bilateral and medial.

In 1910 the French neurologist Henry Meige described in detail a disorder characterized chiefly by symmetric dystonic spasms of the facial muscles, which he called "spasm facial median." Cases with this disorder are rare, and frequently misdiagnosed and inappropriately treated. We report here a translation of Meige's original description of "spasm facial median." We hope that this translation will make it easier to recognize and diagnose this disorder and that it will stimulate greater interest in this unusual syndrome.

Dystonia↗
PubMed1976

Hemifacial spasm: importance of a complete investigation.

The authors report the experience of the Clinique d'O.R.L. de l'Université de Bordeaux II in the management of hemifacial spasm. The recent diagnostic and therapeutic progress in otoneurology has revealed an organic etiology for many cases of hemifacial spasm. The recent diagnostic and therapeutic progress in otoneurology has revealed an organic etiology for many cases of hemifacial spasm. From their experience, they propose a complete investigation for all cases of hemifacial spasm. The disorder is labelled as being idiopathic only if the complete investigation is negative.

Adult↗
PubMed1979

Tardive dyskinesia and the long-term patient.

A psychiatric patient's long-term use of antipsychotic medication often results in the irreversible movement disorder, tardive dyskinesia. The author uses a composite case history as a basis for discussing the symptoms, diagnosis, epidemiology, and treatment of tardive dyskinesia. A number of drugs have been used to treat the disorder, but so far none have been effective. While tardive dyskinesia cannot be cured at this time, the author believes that it can be prevented by treating psychoses with the lowest possible dose of the least toxic drug for the shortest length of time.

Adult↗
PubMed1978

Significance of genetic factors in Gilles de la Tourette syndrome: a review.

Observations suggesting a genetic basis for Gilles de la Tourette syndrome are reviewed with particular emphasis on the finding of familial aggregation. Studies of both Tourette syndrome and simple tic have found that approximately 30% of patients have a positive family history of tic. The significance of this figure depends on a number of factors, in particular the prevalence of positive tic histories in the population. If the latter figure is 10%, which the best available evidence suggests is a reasonable estimate, approximately 30% of families in the general population would be expected to contain at least one present or former tiquer. It is argued, therefore, that the family aggregation findings in Tourette syndrome do not support the hypothesis that the condition has a significant genetic component. Methodological considerations for future research are discussed.

Female↗