Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Laura Cif, Diane Demailly, Claire Gehin, Emilie Chan Seng, Morgan Dornadic, Sophie Huby, Gaetan Poulen, Agathe Roubertie, Matthieu Villessot, Thomas Roujeau, Philippe Coubes
BACKGROUND: Cerebral Palsy (CP) represents a frequent cause of disability in childhood. Early in life, genetic disorders may present with motor dysfunction and diagnosed as CP. Establishing the primary, genetic etiology allows more accurate prognosis, genetic counselling, and planning for symptomatic interventions in homogeneous etiological groups. Deep brain stimulation (DBS) is recommended in refractory movement disorders, including isolated pediatric dystonias. For dystonia evolving in more complex associations in genetic CP, the effect of DBS is still understudied and currently only sporadically described...
January 2023: Molecular Genetics and Metabolism
#22
JOURNAL ARTICLE
Paul Youssef
Most movement disorders in children are hyperkinetic. The most common type is tic disorders, which can involve motor and phonic tics and are classified as simple or complex. Motor or phonic tics that persist for more than 1 year are defined as persistent (chronic) tic disorder. Tourette syndrome can be diagnosed if a child has multiple motor tics and at least one phonic tic for more than 1 year with onset before age 18 years. Children with Tourette syndrome may have symptoms of attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, depression, or behavioral disorders...
December 2022: FP Essentials
#23
JOURNAL ARTICLE
Francesca Magrinelli, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolò E Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H Nemeth, German Demidov, Henry Houlden, Kailash P Bhatia
BACKGROUND: Heterozygous NKX2-1 loss-of-function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood-onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element insertions (MEIs) are potential disease-causing structural variants whose detection in routine diagnostics remains challenging. OBJECTIVE: To establish the molecular diagnosis of two first-degree relatives with clinically suspected NKX2-1-related disorder who had negative NKX2-1 Sanger (SS), whole-exome (WES), and whole-genome (WGS) sequencing...
November 23, 2022: Movement Disorders: Official Journal of the Movement Disorder Society
#24
Xuan Wu, Nan Dong, Zhensheng Liu, Tieyu Tang, Meirong Liu
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two most common and typical manifestations. Axonal sensorimotor peripheral neuropathy, dystonia, chorea, and cognitive impairment are common associated symptoms, as are hypoalbuminemia and hypercholesterolemia. Oculomotor apraxia (OMA)has been reported to be a feature often, although not exclusively, associated with AOA1...
2022: Frontiers in Neurology
#25
JOURNAL ARTICLE
Belén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, Juan D Ortigoza-Escobar, Alfons Macaya, Federica R Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Päivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C Dale, Roser Pons, Kathryn J Peall, Vincenzo Leuzzi, Manju A Kurian
BACKGROUND AND OBJECTIVE: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. METHODS: Patients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disorder experts reviewed available video footage, classifying hyperkinetic movements according to published criteria...
November 2022: Movement Disorders: Official Journal of the Movement Disorder Society
#26
JOURNAL ARTICLE
Ali Mir, Fawzia Amer, Mona Ali, Wajd Alotaibi, Manar Alotaibi, Abdullah Hedaithy, Fatimah Aldurayhim, Fatimah Hussain, Shahid Bashir, Yousef Housawi
Background. Biallelic pathogenic variants in the FRRS1L gene are now known to cause developmental and epileptic encephalopathy-37 (DEE37). It can also be associated with chorea and continuous spikes and waves during sleep (CSWS). CSWS is a rare age-related epileptic encephalopathy syndrome of childhood that is characterized by seizures, neurocognitive regression and electrical status epilepticus during sleep (ESES) on electroencephalogram (EEG) that evolves in four stages. Seizures start during the prodromal phase but the ESES on EEG appears only during acute stage and this is the stage when the diagnosis of CSWS can be made...
July 11, 2022: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
#27
Viola Trevisani, Barbara Predieri, Simona Filomena Madeo, Carlo Fusco, Livia Garavelli, Stefano Caraffi, Lorenzo Iughetti
OBJECTIVES: Benign Hereditary Chorea (BHC) (MIM 118700) is a rare childhood-onset movements disorder characterized by non-progressive chorea. It is usually caused by variants in the thyroid transcription factor 1 (TITF-1/NKX2-1) gene and it is associated with thyroid dysfunction and pulmonary symptoms in the brain-lung-thyroid syndrome. CASE PRESENTATION: We reported the clinical case of a toddler presenting with neurological symptoms (hypotonia, delayed motor milestones, and axial dystonia) and subclinical hypothyroidism in which we found a ' de novo ' variant in the NKX2-1 gene...
March 28, 2022: Journal of Pediatric Endocrinology & Metabolism: JPEM
#28
N Abimbola Sunmonu, Naveen Kumar Ambati, Matthew J Thomas, Robin D Ulep, Bradford Worrall
OBJECTIVE: To investigate potential genetic susceptibility for moyamoya disease (MMD) in an African American family. MATERIALS AND METHODS: Neurovascular imaging and analyses of MMD susceptibility genes RNF213 and/or ACTA2 in a young proband with MMD and two first-degree relatives. RESULTS: The proband presented with pseudobulbar affect and chorea, then had a right hemispheric ischaemic stroke and rapidly fatal course. One relative had a mild haemorrhagic thalamic stroke and clinically silent ischaemic infarct...
December 2021: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
#29
RANDOMIZED CONTROLLED TRIAL
Barbara Coffey, Joseph Jankovic, Daniel O Claassen, Joohi Jimenez-Shahed, Barry J Gertz, Elizabeth A Garofalo, David A Stamler, Maria Wieman, Juha-Matti Savola, Mark Forrest Gordon, Jessica K Alexander, Hadas Barkay, Eran Harary
Importance: Tourette syndrome is a neurodevelopmental disorder characterized by childhood onset of motor and phonic tics, often accompanied by behavioral and psychiatric comorbidities. Deutetrabenazine is a vesicular monoamine transporter 2 inhibitor approved in the US for the treatment of chorea associated with Huntington disease and tardive dyskinesia. Objective: To report results of the ARTISTS 2 (Alternatives for Reducing Tics in Tourette Syndrome 2) study examining deutetrabenazine for treatment of Tourette syndrome...
October 1, 2021: JAMA Network Open
#30
RANDOMIZED CONTROLLED TRIAL
Joseph Jankovic, Barbara Coffey, Daniel O Claassen, Joohi Jimenez-Shahed, Barry J Gertz, Elizabeth A Garofalo, David A Stamler, Maria Wieman, Juha-Matti Savola, Mark Forrest Gordon, Jessica Alexander, Hadas Barkay, Eran Harary
Importance: Tourette syndrome is a neurodevelopmental disorder characterized by childhood onset of motor and phonic tics; treatments for tics are associated with safety concerns. Deutetrabenazine is a selective vesicular monoamine transporter 2 inhibitor approved for the treatment of chorea associated with Huntington disease and tardive dyskinesia in adults. Objective: To examine whether deutetrabenazine is effective and safe for the treatment of Tourette syndrome in children and adolescents...
October 1, 2021: JAMA Network Open
#31
JOURNAL ARTICLE
Zeferino Demartini, Bernardo C A Teixeira, Adriane A Cardoso-Demartini
Moyamoya disease is a cerebral angiopathy characterized by bilateral progressive narrowing of internal carotid arteries, developing collateral vessels with the aspect of a "puff of smoke." The presentation with movement disorders is extremely rare. We present the case of an 11-year-old girl with low academic performance who complained of involuntary movements starting in her right hand. Neurologic examination showed preserved muscle strength and right hemichoreoathetosis. Neuroimaging showed left hemisphere hypoperfusion and a hypertrophic distal lenticulostriate artery...
December 2021: World Neurosurgery
#32
JOURNAL ARTICLE
Hanene Benrhouma, Amina Nasri, Hedia Klaa, Nedia Ben Achour, Aida Rouissi, Ichraf Kraoua, Ilhem Turki
OBJECTIVES: Acute movement disorders (AMD) are frequent in neurological and pediatric emergencies. Few studies analyzed AMD in children, none in Tunisia or other African country. The purpose of this study was to describe the peculiarities of AMD in a Tunisian pediatric population with a literature review. METHODS: We conducted a retrospective descriptive study over 8 years including 80 children (sex ratio, 1.05; mean age of onset, 4.8 years) with AMD, followed in tertiary referral Child Neurology Department in North Tunisia...
August 31, 2021: Pediatric Emergency Care
#33
JOURNAL ARTICLE
Harun Terin, Meltem Akcaboy, Rukiye Demet, Mehmet Fatih Akif Özdemir, Mehmet Bülbül, Saliha Senel
Involuntary movement disorders are rare in childhood. Hyperkinetic movement disorders including chorea stand as the leading cause. Although Sydenham chorea is the major diagnosis in most children and adolescents, appropriate differential diagnosis is fundamental for a final decision. A detailed and careful history as well as physical examination is the principal proceeding for accurate diagnosis. Herein, we report on an adolescent girl who was admitted to our hospital with chorea and subsequently diagnosed with systemic lupus erythematosus (SLE)...
May 2022: Zeitschrift Für Rheumatologie
#34
REVIEW
Giacomo Garone, Federica Graziola, Melissa Grasso, Alessandro Capuano
Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the prominent symptom or an important diagnostic clue in a broader constellation of neurological and extraneurological signs. The diagnostic approach relies on the definition of the overall clinical syndrome and on the recognition of the prominent MD phenomenology...
June 17, 2021: Journal of Clinical Medicine
#35
Asim Ali, Gibson O Anugwom, Usama Rehman, Muhammad Zain Khalid, Mohammad Omar Saeeduddin
Sydenham chorea (SC) is common in childhood with extensive differential diagnoses, including inherited disease, autoimmunity, endocrine disorders, and infections. SC due to acute rheumatic fever (ARF) is rare. Herein, we present a case of SC in an eight-year-old child who presented with choreiform movements of her face and limbs, including facial grimacing, difficulty walking, and slurred speech. She also had a runny nose and odynophagia. She had two episodes of sore throat in the last two months, and her physical examination was unremarkable except for hypertrophic tonsils and generalized hypotonia...
May 12, 2021: Curēus
#36
JOURNAL ARTICLE
Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli
Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders...
May 12, 2021: Journal of Clinical Medicine
#37
REVIEW
Brahim El Hasbaoui, Nadia Mebrouk, Salahiddine Saghir, Abdelhkim El Yajouri, Rachid Abilkassem, Aomar Agadr
Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers. Symptoms and signs of vitamin B12 deficiency appear between the ages of 2 to 12 months and include vomiting, lethargy, failure to thrive, hypotonia, and arrest or regression of developmental skills. Approximately one half of this cases exhibit abnormal movements, variously described as tremors, twitches, chorea, or myoclonus...
2021: Pan African Medical Journal
#38
REVIEW
Rahul Jain, Sanjay Pandey, Sanjay Raghav
CONTEXT: Movement disorders represent a common presentation in pediatrics and are often a source of clinical and diagnostic dilemmas. In this review, we provide an overview of common causes along with simplified clinical approach and management options for major movement disorders. SOURCES: This narrative review is based on contemporary evidence and personal experience. Medline was searched for recent advances, current understanding and consensus on classification, clinical features, diagnosis and treatment...
September 15, 2021: Indian Pediatrics
#39
REVIEW
Joanna Blackburn, Mered Parnes
Movement disorders presenting in childhood include tics, dystonia, chorea, tremor, stereotypy, myoclonus, and parkinsonism, each of which can be part of various clinical syndromes with distinct etiologies. Some of these conditions are benign and require only reassurance; others are bothersome and require treatment, or may be clues that herald underlying pathology. Answers lie in the inherent characteristics of the movements themselves, together with the clinical context provided in the history obtained by the examiner...
March 2021: Current Problems in Pediatric and Adolescent Health Care
#40
JOURNAL ARTICLE
Marta Illán Ramos, Belén Sagastizabal Cardelús, Adrián García Ron, Sara Guillén Martín, Arantxa Berzosa Sánchez, José Tomás Ramos Amador
BACKGROUND: Despite a notable decrease in acute rheumatic fever (ARF) incidence in the past few decades, there are still cases in our setting. Sydenham chorea (SC) may be the initial manifestation for this condition in childhood in a significant proportion of children. We report two cases of choreoathetosis in children as the first manifestation of ARF. CASE PRESENTATION: A previously healthy 8-year-old boy presented with right hemichorea with a predominance in the brachial region, orofacial dyskinesias and speech difficulties for the past 2 weeks...
April 7, 2021: BMC Infectious Diseases
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
