Tourette’s syndrome

Tourette’s syndrome

A disorder characterized by random, repeated, and stereotyped motor tic or vocal tics for over > 1 year, 1) usually in several “bouts” per day. Onset is before age 18 years (mean age: 5 years). Male: female ratio is 4:1. The tics may be socially inappropriate, as such, are disabling. TS is often associated with OCD, ADHD & other personality disorders.



The eponym was bestowed by Jean-Martin Charcot (1825–1893) on behalf of his resident, Georges Albert Édouard Brutus Gilles de la Tourette (1857–1904), a French physician and neurologist, who published an account of nine patients with Tourette’s in 1885.


Tourette’s was once considered a rare and bizarre syndrome, most often associated with the exclamation of obscene words or socially inappropriate and derogatory remarks (coprolalia), but this symptom is present in only a small minority of people with Tourette’s.

Tourette’s is no longer considered a rare condition, but it is not always correctly identified because most cases are mild and the severity of tics decreases for most children as they pass through adolescence. Between 0.4% and 3.8% of children ages 5 to 18 may have Tourette’s; the prevalence of other tic disorders in school-age children is higher, with the more common tics of eye blinking, coughing, throat clearing, sniffing, and facial movements. Extreme Tourette’s in adulthood is a rarity, and Tourette’s does not adversely affect intelligence or life expectancy.

Genetic and environmental factors play a role in the etiology of Tourette’s, but the exact causes are unknown. In most cases, medication is unnecessary. There is no effective treatment for every case of tics, but certain medications and therapies can help when their use is warranted. Education is an important part of any treatment plan, and explanation and reassurance alone are often sufficient treatment.

Comorbid conditions (co-occurring diagnoses other than Tourette’s) such as attention-deficit hyperactivity disorder (ADHD) and obsessive–compulsive disorder (OCD) are present in many patients seen in tertiary specialty clinics. These other conditions often cause more functional impairment to the individual than the tics that are the hallmark of Tourette’s; hence, it is important to correctly identify comorbid conditions and treat them.

Cavum septum pellucidum may also indicate disruption of neurodevelopment and has been associated with neurodevelopmental and psychiatric conditions including bipolar disorderTourette’s syndromeobsessive-compulsive disorder, and schizophrenia, among others 2)

Tourette syndrome (also called Tourette’s syndrome, Tourette’s disorder, Gilles de la Tourette syndrome, GTS or, more commonly, simply Tourette’s or TS) is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical (motor) tics and at least one vocal (phonic) tic. These tics characteristically wax and wane, can be suppressed temporarily, and are preceded by a premonitory urge. Tourette’s is defined as part of a spectrum of tic disorders, which includes provisional, transient and persistent (chronic) tics.

Characterized by motor and vocal tics, which is often associated with psychiatric comorbidities. Dysfunction of basal ganglia pathways might account for the wide spectrum of symptoms in TS patients. Although psychiatric symptoms may be related to limbic networks, the specific contribution of different limbic structures remains unclear.

Temiz et al. used tractography to investigate cortical connectivity with the striatal area (caudateputamen, core and shell of the nucleus accumbens), the subthalamic nucleus (STN), and the adjacent medial subthalamic region (MSR) in 58 TS patients and 35 healthy volunteers. 82% of TS patients showed psychiatric comorbidities, with significantly higher levels of anxiety and impulsivity compared to controls. Tractography analysis revealed significantly increased limbic cortical connectivity of the left MSR with the entorhinal cortex (BA34), insular cortex (BA48), and temporal cortex (BA38) in TS patients compared to controls. Furthermore, they found that left insular-STN connectivity was positively correlated with impulsivity scores for all subjects and with anxiety scores for all subjects, particularly for TS. The study highlights a heterogenous modification of limbic structure connectivity in TS, with specific abnormalities found for the subthalamic area. Abnormal connectivity with the insular cortex might underpin the higher level of impulsivity and anxiety observed in Tourette syndrome 3).

see Tourette’s syndrome treatment.

Tourette’s syndrome case series.

Richieri et al., report the first case of a patient with severe, intractable Tourette Syndrome (TS) with comorbid Obsessive Compulsive disorder (OCD), who recovered from both disorders with gamma knife stereotactic radiosurgery following deep brain stimulation (DBS). This case highlights the possible role of the internal capsule within the neural circuitries underlying both TS and OCD, and suggests that in cases of treatment-refractory TS and comorbid OCD, bilateral anterior capsulotomy using stereotactic radiosurgery may be a viable treatment option 4).


1)

Kurlan R. Clinical practice. Tourette’s Syndrome. N Engl J Med. 2010; 363:2332–2338
2)

Silk T, Beare R, Crossley L, et al. Cavum septum pellucidum in pediatric traumatic brain injury. Psychiatry Res. 2013; 213:186–192
3)

Temiz G, Atkinson-Clement C, Lau B, Czernecki V, Bardinet E, Francois C, Worbe Y, Karachi C. Structural hyperconnectivity of the subthalamic area with limbic cortices underpins anxiety and impulsivity in Tourette syndrome. Cereb Cortex. 2022 Oct 30:bhac408. doi: 10.1093/cercor/bhac408. Epub ahead of print. PMID: 36310093.
4)

Richieri R, Blackman G, Musil R, Spatola G, Cavanna AE, Lançon C, Régis J. Positive clinical effects of gamma knife capsulotomy in a patient with deep brain stimulation-refractory Tourette Syndrome and Obsessive Compulsive Disorder. Clin Neurol Neurosurg. 2018 Apr 26;170:34-37. doi: 10.1016/j.clineuro.2018.04.018. [Epub ahead of print] PubMed PMID: 29723733.

Epilepsy diagnosis

Epilepsy diagnosis

The accurate diagnosis of seizures is essential as some patients will be misdiagnosed with epilepsy, whereas others will receive an incorrect diagnosis. Indeed, errors in diagnosis are common, and many patients fail to receive the correct treatment, which often has severe consequences

Imaging is pivotal in the evaluation and management of patients with seizure disorders.

Positron emission tomography (PET) is the most commonly performed interictal functional neuroimaging technique that may reveal a focal hypometabolic region concordant with seizure onset. Single photon emission computed tomography (SPECT) studies may assist the performance of ictal neuroimaging in patients with pharmacoresistant focal epilepsy being considered for neurosurgical treatment 1).

Elegant structural neuroimaging with magnetic resonance imaging (MRI) may assist in determining the etiology of focal epilepsy and demonstrating the anatomical changes associated with seizure activity. The high diagnostic yield of MRI to identify the common pathological findings in individuals with focal seizures including mesial temporal sclerosis, vascular anomalies, Low-grade glioma and malformations of cortical development has been demonstrated.

Positron emission tomography (PET) imaging in epilepsy is an in vivo technique that allows the localization of a possible seizure onset zone (SOZ) during the interictal period. Stereo-electro-encephalography (SEEG) is the gold standard to define the SOZ. The objective of aresearch was to evaluate the accuracy of PET imaging in localizing the site of SOZ compared with SEEG.

Seven patients with refractory temporal lobe epilepsy (Ep) and 2 healthy controls (HC) underwent 2 PET scans, one with 2-[18F]-fluoro-2-deoxy-D-glucose (FDG) and another with 2′-[18F]fluoroflumazenil (FFMZ), acquired 1 day apart. FDG was acquired for 10 min (static scan) 1 h after administration. An FFMZ scan was acquired for 60 min from radiopharmaceutical administration in a dynamic mode. Each brain PET image was segmented using a standard template implemented in PMOD 3.8. The pons was used as the reference region for modeling of the nondisplaceable binding potential (BPND)for FFMZ, and to obtain uptake ratios for FDG. SEEG studies of patients were performed as a part of their surgical evaluation to define the SOZ.

Well-defined differences between HC and Ep were found with both radiopharmaceuticals, showing the utility to identify abnormal brain regions using quantitative PET imaging. Lateralization of the SOZ findings by PET (lower uptake/binding in a specific brain hemisphere) matched in 86% for FFMZ and 71% for FDG with SEEG data.

Quantitative PET imaging is an excellent complementary tool that matches reasonably well with SEEG to define SOZ in presurgical evaluation 2).

Cerebrospinal fluid analysis for epilepsy

Automatic seizure detection.

Results of a cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcome3).


1)

Cendes F, Theodore WH, Brinkmann BH, Sulc V, Cascino GD. Neuroimaging of epilepsy. Handb Clin Neurol. 2016;136:985-1014. doi: 10.1016/B978-0-444-53486-6.00051-X. PubMed PMID: 27430454.
2)

Avendaño-Estrada A, Velasco F, Velasco AL, Cuellar-Herrera M, Saucedo-Alvarado PE, Marquez-Franco R, Rivera-Bravo B, Ávila-Rodríguez MA. Quantitative Analysis of [18F]FFMZ and [18F]FDG PET Studies in the Localization of Seizure Onset Zone in Drug-Resistant Temporal Lobe Epilepsy. Stereotact Funct Neurosurg. 2019 Nov 13:1-9. doi: 10.1159/000503692. [Epub ahead of print] PubMed PMID: 31722358.
3)

McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium, Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzmán GG, Pavliuk M. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. 2022 Oct 31. doi: 10.1001/jamaneurol.2022.3651. Epub ahead of print. PMID: 36315135.

Korle-Bu Neuroscience Foundation

Korle-Bu Neuroscience Foundation

https://kbnf.org/

Korle-Bu Neuroscience Foundation (KBNF) is a Canada based charity enhancing the delivery of quality brain and spinal medical care in West Africa and beyond. The vision is to alleviate the suffering of West Africans with a special focus on those affected by diseases of the brain and spine, and to address related health care issues.


KBNF has been working with the Liberian Government since 2014 to develop its neurosurgery capacity, but the program is still in its infancy suffering setbacks from Ebola, lack of trained medical professionals across all disciplines, and extremely limited resources. KBNF works to address these deficits with shipments of equipment and supplies and annual medical missions.

Liberia recently employed the first neurosurgeon in the country‘s history. In a country with a population of 4.7 million people and staggering rates of cranial and spine trauma, as well as hydrocephalus and neural tube defects, neurosurgery is considered a luxury. A study documents the experience of a team of neurosurgeons, critical care nurses, scrub technicians, nurses, and Biomedical engineering who carried out a series of neurosurgical clinics and complex brain and spine surgeries in Liberia. Specifically, Bowen et al. aimed to highlight some of the larger obstacles, beyond staff and equipment, facing the development of a neurosurgical or any other specialty practice in Liberia.

The institutions, in collaboration with the Korle-Bu Neuroscience Foundation, spent 10 days in Liberia, based in Tappita, and performed 18 surgeries in addition to seeing several hundred clinic patients. This is a retrospective review of the cases performed along with outcomes to investigate obstacles in providing neurosurgical services in the country.

Before arriving in Liberia, they evaluated, planned, and supplied staff and materials for treating complex neurosurgical patients. Sixteen patients underwent 18 surgeries at a hospital in Tappita, Liberia, in November 2018. Their ages ranged from 1 month to 72 years (average 20 years). Five patients (28%) were female. Ten patients (56%) were under the age of 18. Surgeries included ventriculoperitoneal shunting (VP-shunt), lumbar myelomeningocele repairencephalocele repairlaminectomy, and a craniotomy for tumor resection. Ten patients (55%) underwent VP-shunting. Two patients (11%) had a craniotomy for tumor resection. Three patients (17%) had laminectomy for lumbar stenosis. Two patients (11%) had repair of lumbar myelomeningocele.

After an aggressive and in-depth approach to planning, conducting, and supplying complex neurosurgical procedures in Liberia, the greatest limiting factor to successful outcomes lie in real-time is access to health care, which is largely limited by overall infrastructure. The study documents the experience of a team of neurosurgeons, critical care nurses, scrub technicians, nurses, and biomedical engineers who carried out a series of neurosurgical clinics and complex brain and spine surgeries in Liberia. Specifically, they aimed to highlight some of the larger obstacles, beyond staff and equipment, facing the development of a neurosurgical or any other specialty procedural practice in the country of Liberia. Most notably, they focused on infrastructure factors, including power, roads, water, education, and overall health care 1).


1)

Bowen I, Toor H, Zampella B, Doe A, King C, Miulli DE. Infrastructural Limitations in Establishing Neurosurgical Specialty Services in Liberia. Cureus. 2022 Sep 20;14(9):e29373. doi: 10.7759/cureus.29373. PMID: 36284802; PMCID: PMC9584543.
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