Research & Literature

Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Ng J, Papandreou A, Heales SJ, Kurian MA

Nature reviews. Neurology 2015; (11(10)):567-84 doi:10.1038/nrneurol.2015.172.

Pediatric insomnia: new insights in clinical assessment and treatment options.

Bruni O, Angriman M

Archives italiennes de biologie 2015; (153(2-3)):144-56 doi:10.12871/000398292015239.

Diagnosis of Epilepsy and Related Episodic Disorders.

St Louis EK, Cascino GD

Continuum (Minneapolis, Minn.) 2016; (22(1 Epilepsy)):15-37 doi:10.1212/CON.0000000000000284.

l-Dopa in dystonia: A modern perspective.

Maas RPPWM, Wassenberg T, Lin JP, et al.

Neurology 2017; (88(19)):1865-1871 doi:10.1212/WNL.0000000000003897.

Dystonic storm: a practical clinical and video review.

Termsarasab P, Frucht SJ

Journal of clinical movement disorders 2017; (4()):10 doi:10.1186/s40734-017-0057-z.

A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders.

Peall KJ, Lorentzos MS, Heyman I, et al.

Neuroscience and biobehavioral reviews 2017; (80()):23-35 doi:10.1016/j.neubiorev.2017.05.014.

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

Reuter MS, Krumbiegel M, Schlüter G, et al.

American journal of medical genetics. Part A 2017; (173(8)):2231-2234 doi:10.1002/ajmg.a.38288.

Status dystonicus in childhood.

Lumsden DE, King MD, Allen NM

Current opinion in pediatrics 2017; (29(6)):674-682 doi:10.1097/MOP.0000000000000556.

Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

Timmers ER, Kuiper A, Smit M, et al.

Parkinsonism & related disorders 2017; (45()):57-62 doi:10.1016/j.parkreldis.2017.10.005.

Evaluation and Management of the Child With Autism Spectrum Disorder.

Baumer N, Spence SJ

Continuum (Minneapolis, Minn.) 2018; (24(1, Child Neurology)):248-275 doi:10.1212/CON.0000000000000578.

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.

Trickett J, Heald M, Oliver C, Richards C

Journal of neurodevelopmental disorders 2018; (10(1)):9 doi:10.1186/s11689-018-9226-0.

Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.

van Egmond ME, Eggink H, Kuiper A, et al.

Journal of clinical movement disorders 2018; (5()):3 doi:10.1186/s40734-018-0070-x.

A systematic review to explore the feasibility of a behavioural sleep intervention for insomnia in children with neurodevelopmental disorders: A transdiagnostic approach.

Rigney G, Ali NS, Corkum PV, et al.

Sleep medicine reviews 2018; (41()):244-254 doi:10.1016/j.smrv.2018.03.008.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Lévy J, Grotto S, Mignot C, et al.

Clinical genetics 2018; (94(2)):264-268 doi:10.1111/cge.13383.

Lethal Factor Domain-Mediated Delivery of Nurr1 Transcription Factor Enhances Tyrosine Hydroxylase Activity and Protects from Neurotoxin-Induced Degeneration of Dopaminergic Cells.

Paliga D, Raudzus F, Leppla SH, et al.

Molecular neurobiology 2019; (56(5)):3393-3403 doi:10.1007/s12035-018-1311-6.

Home video telemetry in children: A comparison to inpatient video telemetry.

Carlson S, Kandler RH, Moorhouse D, et al.

Seizure 2018; (61()):209-213 doi:10.1016/j.seizure.2018.08.028.

SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.

Wijemanne S, Shulman JM, Jimenez-Shahed J, et al.

Movement disorders clinical practice 2015; (2(2)):149-154 doi:10.1002/mdc3.12144.

Observing movement disorders: best practice proposal in the use of video recording in clinical practice.

Sambati L, Baldelli L, Calandra Buonaura G, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019; (40(2)):333-338 doi:10.1007/s10072-018-3639-0.

Movement Disorders in Treatable Inborn Errors of Metabolism.

Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A

Movement disorders : official journal of the Movement Disorder Society 2019; (34(5)):598-613 doi:10.1002/mds.27568.

Utilizing a Prototype Patient-Controlled Electronic Health Record in Germany: Qualitative Analysis of User-Reported Perceptions and Perspectives.

Poss-Doering R, Kunz A, Pohlmann S, et al.

JMIR formative research 2018; (2(2)):e10411 doi:10.2196/10411.

Voice and swallowing dysfunction in X-linked dystonia parkinsonism.

Song PC, Le H, Acuna P, et al.

The Laryngoscope 2020; (130(1)):171-177 doi:10.1002/lary.27897.

Current therapies and therapeutic decision making for childhood-onset movement disorders.

Mohammad SS, Paget SP, Dale RC

Movement disorders : official journal of the Movement Disorder Society 2019; (34(5)):637-656 doi:10.1002/mds.27661.

Applying a User-Centered Approach to Building a Mobile Personal Health Record App: Development and Usability Study.

Zhou L, DeAlmeida D, Parmanto B

JMIR mHealth and uHealth 2019; (7(7)):e13194 doi:10.2196/13194.

Status dystonicus: management and prevention in children at high risk.

Iodice A, Pisani F

Acta bio-medica : Atenei Parmensis 2019; (90(3)):207-212 doi:10.23750/abm.v90i3.7207.

Medical management of status epilepticus: Emergency room to intensive care unit.

Crawshaw AA, Cock HR

Seizure 2020; (75()):145-152 doi:10.1016/j.seizure.2019.10.006.

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.

Chaves TF, Baretto N, Oliveira LF, et al.

Scientific reports 2019; (9(1)):17776 doi:10.1038/s41598-019-54347-z.

Loss-of-Function Mutations in NR4A2 Cause Dopa-Responsive Dystonia Parkinsonism.

Wirth T, Mariani LL, Bergant G, et al.

Movement disorders : official journal of the Movement Disorder Society 2020; (35(5)):880-885 doi:10.1002/mds.27982.

Practice guideline: Treatment for insomnia and disrupted sleep behavior in children and adolescents with autism spectrum disorder: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Williams Buckley A, Hirtz D, Oskoui M, et al.

Neurology 2020; (94(9)):392-404 doi:10.1212/WNL.0000000000009033.

Parkinsonism in children: Clinical classification and etiological spectrum.

Leuzzi V, Nardecchia F, Pons R, Galosi S

Parkinsonism & related disorders 2021; (82()):150-157 doi:10.1016/j.parkreldis.2020.10.002.

Diagnostic approach to paediatric movement disorders: a clinical practice guide.

Brandsma R, van Egmond ME, Tijssen MAJ,

Developmental medicine and child neurology 2021; (63(3)):252-258 doi:10.1111/dmcn.14721.

Video quality using outpatient smartphone videos in epilepsy: Results from the OSmartViE study.

Tatum WO, Hirsch LJ, Gelfand MA, et al.

European journal of neurology 2021; (28(5)):1453-1462 doi:10.1111/ene.14744.

The Clinical Value of Patient Home Videos in Movement Disorders.

Billnitzer A, Jankovic J

Tremor and other hyperkinetic movements (New York, N.Y.) 2021; (11()):37 doi:10.5334/tohm.651.

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Weissbach A, Pauly MG, Herzog R, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(2)):237-252 doi:10.1002/mds.28874.

Status Dystonicus in Children: A Cross-Sectional Study and Review of Literature.

Saini AG, Hassan I, Sharma K, et al.

Journal of child neurology 2022; (37(6)):441-450 doi:10.1177/08830738221081593.

Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review.

Vela-Desojo L, Urso D, Osuna-López M, Hoenicka J

Journal of clinical medicine 2022; (11(6)) doi:10.3390/jcm11061590.

Identifying a minimum data set as a necessity to design a web-based personal health record for patients under chronic dialysis.

Jeddi FR, Nabovati E, Rezayi S, et al.

Journal of family medicine and primary care 2022; (11(3)):969-975 doi:10.4103/jfmpc.jfmpc_978_21.

NURR1-deficient mice have age- and sex-specific behavioral phenotypes.

Montarolo F, Martire S, Chiara F, et al.

Journal of neuroscience research 2022; (100(9)):1747-1754 doi:10.1002/jnr.25067.

Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.

Song X, Xu W, Xiao M, et al.

Frontiers in neuroscience 2022; (16()):956429 doi:10.3389/fnins.2022.956429.

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.

Pranav Chand R, Vinit W, Vaidya V, et al.

European journal of medical genetics 2023; (66(5)):104730 doi:10.1016/j.ejmg.2023.104730.

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.

Chi CS, Tsai CR, Lee HF

Human genetics 2023; (142(8)):1029-1041 doi:10.1007/s00439-023-02533-5.

[Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].

Zhang GY, Cai ZJ, Zhang XL, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2023; (61(4)):339-344 doi:10.3760/cma.j.cn112140-20221118-00987.

Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report.

Reyes ZMD, Lynch E, Henry J, et al.

BMC medical genomics 2023; (16(1)):78 doi:10.1186/s12920-023-01510-1.

Outcomes of End-User Testing of a Care Coordination Mobile App With Families of Children With Special Health Care Needs: Simulation Study.

Wong W, Ming D, Pateras S, et al.

JMIR formative research 2023; (7()):e43993 doi:10.2196/43993.

Levodopa for Dystonia in Children: A Case Series and Review of the Literature.

DeArias AL, Bamford NS

Pediatric neurology 2024; (152()):16-19 doi:10.1016/j.pediatrneurol.2023.12.012.

Chloroprocaine 3% for anesthesia during cesarean section in a patient with dopa-responsive dystonia: A case report.

Zhou J, Zhou W, Luo D

Medicine 2024; (103(27)):e38795 doi:10.1097/MD.0000000000038795.

Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism.

Kao TH, Gochyyev P, Sharma N, et al.

Clinical parkinsonism & related disorders 2024; (11()):100282 doi:10.1016/j.prdoa.2024.100282.

Personal Health Record Software for Neuroendocrine Tumors: Patient-Centered Design Approach.

Hourcade JP, O'Rorke M, Chrischilles E, et al.

JMIR human factors 2025; (12()):e68788 doi:10.2196/68788.

The utility of creatine kinase in status dystonicus and pre-status dystonicus.

Lumsden DE, Papandreou A, Allen NM, Lin JP

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2025; (57()):57-63 doi:10.1016/j.ejpn.2025.05.013.

Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.

Borden C, Nasir MB, Roberts MB, et al.

American journal of medical genetics. Part A 2025; (197(10)):e64145 doi:10.1002/ajmg.a.64145.

Pediatric Status Dystonicus: A Single-Center 10-Year Retrospective Review.

Peacock DJSJ, Vithlani K, Clarke GA, et al.

Movement disorders clinical practice 2025; (12(12)):2247-2252 doi:10.1002/mdc3.70282.

Combined molecular characterization and dopa-responsive treatment in two patients with NR4A2-associated intellectual developmental disorder.

Liang N, Li T, Deng Y

Frontiers in genetics 2025; (16()):1590292 doi:10.3389/fgene.2025.1590292.

A group respite intervention for family caregivers of children living with special needs.

McGrane C, Martins DC, Geyer D, et al.

Journal of pediatric nursing 2026; (89()):58-66 doi:10.1016/j.pedn.2026.03.044.

Quality of Life and Mental Health Among Families Caring for Children with Medical Complexity: A Scoping Review.

Suárez-Carrasco A, León-Campos Á, Peláez-Cantero MJ, et al.

Healthcare (Basel, Switzerland) 2026; (14(9)) doi:10.3390/healthcare14091124.

Spiritual well-being, caregiver burden, depression, and quality of life in parents of children with spinal muscular atrophy: A cross-sectional study.

Cansel N, Özgör B, Yücel G

Medicine 2026; (105(25)):e49156 doi:10.1097/MD.0000000000049156.

Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

Pessoa ALS, Guimarães TG, de Castro Dos Santos D, et al.

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70731.

Status Dystonicus: An Updated Review on Diagnosis, Pathophysiology, and Management.

Desai VN, Garg A, Bhattacharya A, et al.

Annals of Indian Academy of Neurology 2026; (29(4)):501-509 doi:10.4103/aian.aian_1122_25.

Sleep in Children with Neurodevelopmental Disorders: From Diagnostic Labels to Phenotype-directed Care.

Bruni O, Breda M, Mammarella V, et al.

Current neurology and neuroscience reports 2026; (26(1)).

Acute neuro-inflammatory presentation of ATP1A3 variants: Case reports of three patients with different phenotypes.

Glasson C, Gibaud M, Alesandrini M, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2026; (33(8)):105616 doi:10.1016/j.arcped.2026.105616.