Research & Literature

Oropharyngeal dysphagia, an underestimated disorder in pediatrics.

Vaquero-Sosa E, Francisco-González L, Bodas-Pinedo A, et al.

Revista espanola de enfermedades digestivas 2015; (107(2)):113-5.

Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics.

Tibussek D, Klepper J, Korinthenberg R, et al.

Neuropediatrics 2016; (47(3)):139-50 doi:10.1055/s-0036-1572411.

Care-related pain and discomfort in children with motor disabilities in rehabilitation centres.

Bourseul JS, Brochard S, Houx L, et al.

Annals of physical and rehabilitation medicine 2016; (59(5-6)):314-319 doi:10.1016/j.rehab.2016.04.009.

Clinical Characteristics of Dysphagia in Children with Down Syndrome.

Jackson A, Maybee J, Moran MK, et al.

Dysphagia 2016; (31(5)):663-71 doi:10.1007/s00455-016-9725-7.

The neurologist's role in supporting transition to adult health care: A consensus statement.

Brown LW, Camfield P, Capers M, et al.

Neurology 2016; (87(8)):835-40 doi:10.1212/WNL.0000000000002965.

European Society for Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Neurological Impairment.

Romano C, van Wynckel M, Hulst J, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(2)):242-264 doi:10.1097/MPG.0000000000001646.

Supporting adults with intellectual and developmental disabilities to participate in health care decision making.

Sullivan WF, Heng J

Canadian family physician Medecin de famille canadien 2018; (64(Suppl 2)):S32-S36.

Presenting Signs and Symptoms do not Predict Aspiration Risk in Children.

Duncan DR, Mitchell PD, Larson K, Rosen RL

The Journal of pediatrics 2018; (201()):141-146 doi:10.1016/j.jpeds.2018.05.030.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, et al.

American journal of human genetics 2018; (103(2)):245-260 doi:10.1016/j.ajhg.2018.07.006.

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.

Nickel M, Simonati A, Jacoby D, et al.

The Lancet. Child & adolescent health 2018; (2(8)):582-590 doi:10.1016/S2352-4642(18)30179-2.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Tran Mau-Them F, Guibaud L, Duplomb L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):1008-1014 doi:10.1038/s41436-018-0143-0.

Feeding Interventions Are Associated With Improved Outcomes in Children With Laryngeal Penetration.

Duncan DR, Larson K, Davidson K, et al.

Journal of pediatric gastroenterology and nutrition 2019; (68(2)):218-224 doi:10.1097/MPG.0000000000002167.

Conventional and quantitative EEG in status epilepticus.

Sansevere AJ, Hahn CD, Abend NS

Seizure 2019; (68()):38-45 doi:10.1016/j.seizure.2018.09.011.

Clinical identification of feeding and swallowing disorders in 0-6 month old infants with Down syndrome.

Stanley MA, Shepherd N, Duvall N, et al.

American journal of medical genetics. Part A 2019; (179(2)):177-182 doi:10.1002/ajmg.a.11.

Pharmacological management of abnormal tone and movement in cerebral palsy.

Lumsden DE, Crowe B, Basu A, et al.

Archives of disease in childhood 2019; (104(8)):775-780 doi:10.1136/archdischild-2018-316309.

A Multidisciplinary Transition Consult Service: Patient Referral Characteristics.

Razon AN, Greenberg A, Trachtenberg S, et al.

Journal of pediatric nursing 2019; (47()):136-141 doi:10.1016/j.pedn.2019.04.021.

IRF2BPL gene mutation: Expanding on neurologic phenotypes.

Shelkowitz E, Singh JK, Larson A, Elias ER

American journal of medical genetics. Part A 2019; (179(11)):2263-2271 doi:10.1002/ajmg.a.61328.

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.

Fiberoptic Endoscopic Evaluation of Swallowing in Infants and Children: Protocol, Safety, and Clinical Efficacy: 25 Years of Experience.

Miller CK, Willging JP

The Annals of otology, rhinology, and laryngology 2020; (129(5)):469-481 doi:10.1177/0003489419893720.

Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.

Forman EB, King MD, Gorman KM

Archives of disease in childhood. Education and practice edition 2021; (106(2)):71-77 doi:10.1136/archdischild-2019-318131.

Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL.

Qian XH, Liu XY, Zhu ZY, et al.

Seizure 2021; (84()):47-52 doi:10.1016/j.seizure.2020.11.006.

Zolpidem in treatment resistant adolescent catatonia: a case series.

Kumar P, Kumar D

Scandinavian journal of child and adolescent psychiatry and psychology 2020; (8()):135-138 doi:10.21307/sjcapp-2020-013.

Psychological Distress among Caregivers of Children with Neurodevelopmental Disorders in Nepal.

Maridal HK, Bjørgaas HM, Hagen K, et al.

International journal of environmental research and public health 2021; (18(5)) doi:10.3390/ijerph18052460.

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.

Marcogliese PC, Dutta D, Ray SS, et al.

Science advances 2022; (8(3)):eabl5613 doi:10.1126/sciadv.abl5613.

Health care transition from pediatric to adult care: an evidence-based guideline.

Pape L, Ernst G

European journal of pediatrics 2022; (181(5)):1951-1958 doi:10.1007/s00431-022-04385-z.

Malignant Catatonia: A Review for the Intensivist.

Connell J, Oldham M, Pandharipande P, et al.

Journal of intensive care medicine 2023; (38(2)):137-150 doi:10.1177/08850666221114303.

Optimal Management of Status Epilepticus in Children in the Emergency Setting: A Review of Recent Advances.

Messahel S, Bracken L, Appleton R

Open access emergency medicine : OAEM 2022; (14()):491-506 doi:10.2147/OAEM.S293258.

Sensor-based outcomes to monitor everyday life motor activities of children and adolescents with neuromotor impairments: A survey with health professionals.

Rast FM, Labruyère R

Frontiers in rehabilitation sciences 2022; (3()):865701 doi:10.3389/fresc.2022.865701.

Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.

Sinha Ray S, Dutta D, Dennys C, et al.

Cell reports 2022; (41(10)):111751 doi:10.1016/j.celrep.2022.111751.

Dysphagia Management in Children: Implementation and Perspectives of Flexible Endoscopic Evaluation of Swallowing (FEES).

Printza A, Sdravou K, Triaridis S

Children (Basel, Switzerland) 2022; (9(12)) doi:10.3390/children9121857.

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.

Benefits and Challenges of Pediatric-to-Adult Health Care Transition in Childhood-Onset Neurologic Conditions.

Osako M, Yamaoka Y, Takeuchi C, et al.

Neurology. Clinical practice 2023; (13(2)):e200130 doi:10.1212/CPJ.0000000000200130.

IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.

Gardella E, Michelucci R, Christensen HM, et al.

Epilepsia 2023; (64(8)):e170-e176 doi:10.1111/epi.17634.

Pediatric Rehabilitation Medicine Physicians: Your Essential Medical Home Neighbors for Children with Disabilities.

Bosques G, Houtrow AJ, Holman LK

Pediatric clinics of North America 2023; (70(3)):371-384 doi:10.1016/j.pcl.2023.01.001.

Incidence and risk factors for care-related pain in children with physical disabilities.

Dubois A, Hall C, Courtois-Communier E, et al.

European journal of physical and rehabilitation medicine 2023; (59(3)):414-424 doi:10.23736/S1973-9087.23.07726-2.

Status epilepticus in the ICU.

Rossetti AO, Claassen J, Gaspard N

Intensive care medicine 2024; (50(1)):1-16 doi:10.1007/s00134-023-07263-w.

IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.

Heide S, Davoine CS, Cunha P, et al.

Neurology. Genetics 2023; (9(6)):e200096 doi:10.1212/NXG.0000000000200096.

Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.

Forbes EJ, Morison LD, Lelik F, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2024; (195(6)):e32971 doi:10.1002/ajmg.b.32971.

De novo variants of IRF2BPL result in developmental epileptic disorder.

Wang Y, Ke Z, Li Y, et al.

Orphanet journal of rare diseases 2024; (19(1)):121 doi:10.1186/s13023-024-03130-z.

The Rare Life: Examining Parents' Grief, Barriers, and Facilitators Associated with Caring for Medically Complex Children.

Burke TJ, DeGroot JM, Farris KL, Mellow AJ

Health communication 2025; (40(1)):36-46 doi:10.1080/10410236.2024.2330130.

Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.

Vogt LM, Yang K, Tse G, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(9)):1435-1445 doi:10.1002/mds.29794.

Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.

Chen PS, Chen YF, Chiu JY, et al.

Annals of clinical and translational neurology 2024; (11(6)):1557-1566 doi:10.1002/acn3.52072.

Considerations for Alternative Decision-Making When Transitioning to Adulthood for Youth With Intellectual and Developmental Disabilities: Policy Statement.

Turchi RM, Kuo DZ, Rusher JW, et al.

Pediatrics 2024; (153(6)) doi:10.1542/peds.2024-066841.

Fifteen-minute consultation: Management of acute dystonia exacerbation and status dystonicus.

Lumsden DE

Archives of disease in childhood. Education and practice edition 2025; (110(1)):8-14 doi:10.1136/archdischild-2023-326814.

Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.

Bauersachs D, Bomholtz L, Del Rey Mateos S, et al.

Frontiers in neuroscience 2024; (18()):1426177 doi:10.3389/fnins.2024.1426177.

Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.

Kristiansen K, Vernal DL, Hulgaard DR

European child & adolescent psychiatry 2025; (34(3)):835-852 doi:10.1007/s00787-024-02522-7.

IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.

Venkateswaran S, Michaud J, Ito Y, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(11)):2102-2109 doi:10.1002/mds.29938.

Rett syndrome.

Gold WA, Percy AK, Neul JL, et al.

Nature reviews. Disease primers 2024; (10(1)):84 doi:10.1038/s41572-024-00568-0.

Tact Training with Augmentative Gestural Support for Language Disorder and Challenging Behaviors: A Case Study in an Italian Community-Based Setting.

Turriziani L, Vartellini R, Barcello MG, et al.

Journal of clinical medicine 2024; (13(22)) doi:10.3390/jcm13226790.

First Seizures, Acute Repetitive Seizures, and Status Epilepticus.

Vossler DG

Continuum (Minneapolis, Minn.) 2025; (31(1)):95-124 doi:10.1212/CON.0000000000001530.

Clinical characterization of IRF2BPL mutation: Case series and review of the literature.

Lou X, Li W, Pang M, et al.

Medicine 2025; (104(1)):e41078 doi:10.1097/MD.0000000000041078.

Neurophysiological and Neuroanatomical Background of Spasticity: Surgical Implication for Dorsal Rhizotomy in Cerebral Palsy.

Sindou M, Joud A, Georgoulis G

Advances and technical standards in neurosurgery 2025; (51()):15-39 doi:10.1007/978-3-031-86441-4_3.

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Malmgren H, Kvarnung M, Gustafsson P, et al.

Frontiers in genetics 2025; (16()):1580879 doi:10.3389/fgene.2025.1580879.

Digital technology interventions for communication skills in persons with neurodevelopmental disorders: a scoping review.

Zorzi S, Lubkina V, Jēkabsone I, Berteotti L

Research in developmental disabilities 2025; (164()):105080 doi:10.1016/j.ridd.2025.105080.

Thickened Liquids Improve Infant Swallow Function as Measured by Penetration-Aspiration Scale Score on Videofluoroscopic Swallow Study.

Golden C, Kim M, Larson K, Duncan DR

Pediatric pulmonology 2025; (60(11)):e71363 doi:10.1002/ppul.71363.

The utility of ketogenic diet therapy in the management of epileptic spasms: A systematic review and meta-analysis.

Yakemow G, Aleluya S, Ramachandrannair R, et al.

Epilepsy research 2026; (219()):107694 doi:10.1016/j.eplepsyres.2025.107694.

Severe anti-NMDA receptor encephalitis in a pediatric patient presenting with status dystonicus as the primary clinical manifestation: A case report (CARE).

Tian P, Li J, Wang M, et al.

Medicine 2025; (104(50)):e46361 doi:10.1097/MD.0000000000046361.

Dutch rehabilitation physicians' perspectives on contracture management in children with spinal muscular atrophy: challenges in a changing landscape.

Oude Lansink ILB, Beelen A, Kruitwagen-van Reenen E, et al.

Frontiers in neurology 2025; (16()):1670391 doi:10.3389/fneur.2025.1670391.

NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.

Dell'Oca M, Boggio Bozzo S, Vaglietti S, et al.

Nature communications 2026; (17(1)).

Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.

von Quednow E, Bragado López S, Martínez González M, Carrascosa-Romero MC

American journal of medical genetics. Part A 2026; (200(7)):1702-1709 doi:10.1002/ajmg.a.70113.

Integrating the ICF and the F-Words Framework to Support Family-Centered Pediatric Care for Children with Neurodevelopmental Disorders: A Narrative Review.

Gogola A, Gnat R, Skworc A, et al.

Children (Basel, Switzerland) 2026; (13(3)) doi:10.3390/children13030354.

Perceived quality and needs in speech-language therapy for Spanish children with Rett and Angelman Syndromes.

Cañamero LM, García-Blanco A, Udeanu A

Journal of communication disorders 2026; (122()):106658 doi:10.1016/j.jcomdis.2026.106658.

Patient and Family Reported Clinical Picture of IRF2BPL-Related Disorders.

Goldstone-Joubert Z, Pascual DM, Bailey LA, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2026; doi:10.1002/ajmg.b.70032.

The Management of Swallowing Disorders in Children With Spinal Muscular Atrophy Type 1: A Scoping Review.

Rocca S, Pizzi L, Pizzorni N, et al.

American journal of speech-language pathology 2026; 1-22 doi:10.1044/2026_AJSLP-25-00460.