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paediatric movement disorder

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https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#1
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
May 10, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28472332/the-spectrum-of-rem-sleep-related-episodes-in-children-with-type-1-narcolepsy
#2
Elena Antelmi, Fabio Pizza, Stefano Vandi, Giulia Neccia, Raffaele Ferri, Oliviero Bruni, Marco Filardi, Gaetano Cantalupo, Rocco Liguori, Giuseppe Plazzi
Type 1 narcolepsy is a central hypersomnia due to the loss of hypocretin-producing neurons and characterized by cataplexy, excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. In children, close to the disease onset, type 1 narcolepsy has peculiar clinical features with severe cataplexy and a complex admixture of movement disorders occurring while awake. Motor dyscontrol during sleep has never been systematically investigated. Suspecting that abnormal motor control might affect also sleep, we systematically analysed motor events recorded by means of video polysomnography in 40 children with type 1 narcolepsy (20 females; mean age 11...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27991656/the-neuropsychological-profile-of-children-with-basal-ganglia-encephalitis-a-case-series
#3
Chiara Pawela, Ruth K Brunsdon, Tracey A Williams, Melanie Porter, Russell C Dale, Shekeeb S Mohammad
Inflammatory basal ganglia encephalitis (BGE) is a rare but distinct entity of putative autoimmune aetiology, with specific basal ganglia inflammation and acute movement disorders. Unlike most brain injuries, BGE is a radiologically pure basal ganglia syndrome. The current study systematically describes the neuropsychological outcomes of four paediatric cases of BGE, and thus the neuropsychological outcomes of focal basal ganglia insult in childhood. Although all patients made significant motor recoveries, all four cases displayed executive dysfunction, fine motor difficulties, and anxiety...
April 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#4
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27882295/neuroanatomical-correlates-of-childhood-apraxia-of-speech-a-connectomic-approach
#5
Simona Fiori, Andrea Guzzetta, Jhimli Mitra, Kerstin Pannek, Rosa Pasquariello, Paola Cipriani, Michela Tosetti, Giovanni Cioni, Stephen E Rose, Anna Chilosi
Childhood apraxia of speech (CAS) is a paediatric speech sound disorder in which precision and consistency of speech movements are impaired. Most children with idiopathic CAS have normal structural brain MRI. We hypothesize that children with CAS have altered structural connectivity in speech/language networks compared to controls and that these altered connections are related to functional speech/language measures. Whole brain probabilistic tractography, using constrained spherical deconvolution, was performed for connectome generation in 17 children with CAS and 10 age-matched controls...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27767206/reliability-and-discriminant-validity-of-ataxia-rating-scales-in-early-onset-ataxia
#6
Rick Brandsma, Tjitske F Lawerman, Marieke J Kuiper, Roelineke J Lunsing, Huibert Burger, Deborah A Sival
AIM: To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD: In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation coefficient [ICC]) and discriminant validity of ataxia rating scales (International Cooperative Ataxia Rating Scale [ICARS], Scale for Assessment and Rating of Ataxia [SARA], and Brief Ataxia Rating Scale [BARS])...
April 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27693334/historical-developments-in-children-s-deep-brain-stimulation
#7
REVIEW
Laura Cif, Philippe Coubes
BACKGROUND: Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies. METHODS AND RESULTS: Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated "primary" dystonia and associated symptoms such as subcortical myoclonus...
January 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27671542/formulation-of-orodispersible-films-for-paediatric-therapy-investigation-of-feasibility-and-stability-for-tetrabenazine-as-drug-model
#8
Zoé Senta-Loys, Sandrine Bourgeois, Cyril Pailler-Mattei, Géraldine Agusti, Stéphanie Briançon, Hatem Fessi
OBJECTIVES: Orodispersible films (ODF) were formulated to facilitate tetrabenazine (TBZ) administration to paediatric population for the treatment of hyperkinetic movement disorders. METHODS: ODF were obtained by solvent casting/evaporation method using four different polymers (HPMC, PVP, pullulan and HEC). Physicochemical, mechanical and biopharmaceutical characterizations as well as API state in ODF by thermal analysis were investigated to define and compare formulations...
May 2017: Journal of Pharmacy and Pharmacology
https://www.readbyqxmd.com/read/27567277/complications-of-deep-brain-stimulation-dbs-for-dystonia-in-children-the-challenges-and-10-year-experience-in-a-large-paediatric-cohort
#9
Margaret Kaminska, Sarah Perides, Daniel E Lumsden, Vasiliki Nakou, Richard Selway, Keyoumars Ashkan, Jean-Pierre Lin
Deep brain stimulation (DBS) has been increasingly used for primary and secondary movement disorders in children and young people. Reports of hardware related complications have been sparse for this population and from small cohorts of patients. We report DBS complications from a single large DBS centre with 10 year experience. Data was collected as a prospective audit and additionally from a questionnaire on recharging of the stimulators. 129 patients with a minimum 6 months follow up were identified, mean age10...
January 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27476614/-subacute-anti-n-methyl-d-aspartate-receptor-encephalitis-a-serie-of-13-paediatric-cases
#10
Ricardo Erazo, Jaime González, Consuelo Quintanilla, Claudia Devaud, Consuelo Gayoso, Ximena Toledo, Erna Rauch, Claudia Riffo, Carolina Alvarez, Marne Salazar, Daniela Salvo, Josep Dalmau, Orietta Carmona
INTRODUCTION: Subacute anti-NMDA receptor encephalitis was recognised in 2007 as a clinical entity, and was first described in young women with ovarian teratoma. The first paediatric series unrelated with tumours was reported in 2009. OBJECTIVE: To present the clinical features, treatment, and prognosis of 13 patients with anti-NMDA receptor encephalitis in Chile. PATIENTS AND METHOD: A description is presented of 13 children, 9 males, aged between 1 and 16 years, diagnosed between 2009 and 2016 in 7 hospitals...
November 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27321953/parental-quality-of-life-in-complex-paediatric-neurologic-disorders-of-unknown-aetiology
#11
K J M van Nimwegen, W Kievit, G J van der Wilt, J H Schieving, M A A P Willemsen, A R T Donders, C M Verhaak, J P C Grutters
Complex paediatric neurology (CPN) patients generally present with non-specific symptoms, such as developmental delay, impaired movement and epilepsy. The diagnostic trajectory in these disorders is usually complicated and long-lasting, and may be burdensome to the patients and their parents. Additionally, as caring for a chronically ill child can be stressful and demanding, parents of these patients may experience impaired health-related quality of life (HRQoL). This study aims to assess parental HRQoL and factors related to it in CPN...
September 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27302239/advances-in-management-of-movement-disorders-in-children
#12
REVIEW
Anne Koy, Jean-Pierre Lin, Terence D Sanger, Warren A Marks, Jonathan W Mink, Lars Timmermann
Movement disorders in children are causally and clinically heterogeneous and present in a challenging developmental context. Treatment options are broad ranging, from pharmacotherapy to invasive neuromodulation and experimental gene and stem cell therapies. The clinical effects of these therapies are variable and often poorly sustained, and only a few of the management strategies used in paediatric populations have been tested in randomised controlled studies with age-appropriate cohorts. Identification of the most appropriate treatment is uniquely challenging in children because of the incomplete knowledge about the pathophysiology of movement disorders and their influence on normal motor development; thus, effective therapeutic options for these children remain an unmet need...
June 2016: Lancet Neurology
https://www.readbyqxmd.com/read/26980451/prevalence-of-motor-problems-in-children-with-attention-deficit-hyperactivity-disorder-in-hong-kong
#13
K W Tsui, Kelly Y C Lai, Marshall M C Lee, Caroline K S Shea, Luke C T Tong
INTRODUCTION: Local data on the occurrence of motor problems in children with attention deficit hyperactivity disorder are not available but an understanding of this important issue may enable better planning of medical services. We aimed to determine the prevalence of motor problems in children with attention deficit hyperactivity disorder in a local population. METHODS: In this descriptive cross-sectional study, children aged 6 to 9 years diagnosed with attention deficit hyperactivity disorder over a period of 6 months from 1 July to 31 December 2011 were recruited from the Joint Paediatric and Child Psychiatric ADHD Program in New Territories East Cluster in Hong Kong...
April 2016: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/26715604/congenital-disorders-of-autophagy-an-emerging-novel-class-of-inborn-errors-of-neuro-metabolism
#14
REVIEW
Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F Hoffmann, Heinz Jungbluth, Mustafa Sahin
Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, and neurodegeneration, among others. Frequent early and severe involvement of the central nervous system puts the paediatric neurologist, neurogeneticist, and neurometabolic specialist at the forefront of recognizing and treating these rare conditions...
February 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/26681308/a-novel-fanconi-anaemia-subtype-associated-with-a-dominant-negative-mutation-in-rad51
#15
Najim Ameziane, Patrick May, Anneke Haitjema, Henri J van de Vrugt, Sari E van Rossum-Fikkert, Dejan Ristic, Gareth J Williams, Jesper Balk, Davy Rockx, Hong Li, Martin A Rooimans, Anneke B Oostra, Eunike Velleuer, Ralf Dietrich, Onno B Bleijerveld, A F Maarten Altelaar, Hanne Meijers-Heijboer, Hans Joenje, Gustavo Glusman, Jared Roach, Leroy Hood, David Galas, Claire Wyman, Rudi Balling, Johan den Dunnen, Johan P de Winter, Roland Kanaar, Richard Gelinas, Josephine C Dorsman
Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. A total of 17 FA disease genes have been reported, all of which act in a recessive mode of inheritance. Here we report on a de novo g.41022153G>A; p.Ala293Thr (NM_002875) missense mutation in one allele of the homologous recombination DNA repair gene RAD51 in an FA-like patient...
2015: Nature Communications
https://www.readbyqxmd.com/read/26616635/burke-fahn-marsden-dystonia-severity-gross-motor-manual-ability-and-communication-function-classification-scales-in-childhood-hyperkinetic-movement-disorders-including-cerebral-palsy-a-rosetta-stone-study
#16
Markus C Elze, Hortensia Gimeno, Kylee Tustin, Lesley Baker, Daniel E Lumsden, Jane L Hutton, Jean-Pierre S-M Lin
AIM: Hyperkinetic movement disorders (HMDs) can be assessed using impairment-based scales or functional classifications. The Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFM-M) evaluates dystonia impairment, but may not reflect functional ability. The Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) are widely used in the literature on cerebral palsy to classify functional ability, but not in childhood movement disorders...
February 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/26542469/cerebral-18-fluorodeoxy-glucose-positron-emission-tomography-in-paediatric-anti-n-methyl-d-aspartate-receptor-encephalitis-a-case-series
#17
Stanislas Lagarde, Anne Lepine, Emilie Caietta, Florence Pelletier, José Boucraut, Brigitte Chabrol, Mathieu Milh, Eric Guedj
BACKGROUND: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a frequent and severe cause of encephalitis in children with potential efficient treatment (immunotherapy). Suggestive clinical features are behavioural troubles, seizures and movement disorders. Prompt diagnosis and treatment initiation are needed to guarantee favourable outcome. Nevertheless, diagnosis may be challenging because of the classical ancillary test (magnetic resonance imaging (MRI), electroencephalogram, standard cerebro-spinal fluid analysis) have limited sensitivity...
May 2016: Brain & Development
https://www.readbyqxmd.com/read/26330176/symptomatic-treatment-of-children-with-anti-nmdar-encephalitis
#18
Shekeeb S Mohammad, Hannah Jones, Martin Hong, Margherita Nosadini, Cynthia Sharpe, Sekhar C Pillai, Fabienne Brilot, Russell C Dale
AIM: We performed the first study on the perceived benefit and adverse effects of symptomatic management in children with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis. METHOD: A retrospective chart review was undertaken at two tertiary paediatric hospitals in Australia and New Zealand. We included 27 children (12 males, 15 females; mean age at admission 7y 1mo) with anti-NMDAR antibodies in serum or cerebrospinal fluid with a typical clinical syndrome...
April 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/26110804/a-field-guide-to-current-advances-in-paediatric-movement-disorders
#19
REVIEW
Laura Silveira-Moriyama, Jean-Pierre Lin
PURPOSE OF REVIEW: Recent advances in neurogenetics, neuroimmunology and nonpharmacological treatments have reshaped the field of paediatric movement disorders. In this review, we put recent findings into context providing a framework to enable navigation of the expanding literature in this field. RECENT FINDINGS: Anti-NMDA receptor encephalitis has proven to be a significant cause of treatable movement disorder in children and to present a multifaceted link with herpes simplex encephalitis...
August 2015: Current Opinion in Neurology
https://www.readbyqxmd.com/read/25568426/the-results-of-an-extensive-soft-tissue-procedure-in-the-treatment-of-obligatory-patellar-dislocation-in-children-with-ligamentous-laxity-a-post-operative-isokinetic-study
#20
K R Niedzielski, K Malecki, P Flont, J Fabis
In 11 paediatric patients (seven girls and four boys, from 12 to 15 years old) with unilateral obligatory patellar dislocation and ligamentous laxity vastus medialis advancement, lateral release, partial patellar ligament transposition and Galeazzi semitendinosus tenodesis was undertaken to stabilise the patella. The diagnostic criterion for ligamentous laxity was based on the Beighton scale. Outcomes were evaluated radiologically and functionally by measurement of the range of knee movement and isokinetic testing...
January 2015: Bone & Joint Journal
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