Research & Literature

Study protocol of "CHAPS": a randomized controlled trial protocol of Care Coordination for Health Promotion and Activities in Parkinson's Disease to improve the quality of care for individuals with Parkinson's disease.

Connor K, Cheng E, Siebens HC, et al.

BMC neurology 2015; (15()):258 doi:10.1186/s12883-015-0506-y.

[Acute hyponatremia can be a life-threatening condition. Recommendations for hydration of children in surgery and acute disease reduces the risk].

Fläring U, Sandström K, Nilsson K

Lakartidningen 2016; (113()).

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Zeiger WA, Sun LR, Bosemani T, et al.

Pediatric neurology 2016; (58()):113-5.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Zurynski Y, Deverell M, Dalkeith T, et al.

Orphanet journal of rare diseases 2017; (12(1)):68 doi:10.1186/s13023-017-0622-4.

Pediatric In-Hospital Acute Respiratory Compromise: A Report From the American Heart Association's Get With the Guidelines-Resuscitation Registry.

Andersen LW, Vognsen M, Topjian A, et al.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2017; (18(9)):838-849 doi:10.1097/PCC.0000000000001204.

Amyotrophic lateral sclerosis: improving care with a multidisciplinary approach.

Hogden A, Foley G, Henderson RD, et al.

Journal of multidisciplinary healthcare 2017; (10()):205-215 doi:10.2147/JMDH.S134992.

Paediatric palliative care improves patient outcomes and reduces healthcare costs: evaluation of a home-based program.

Chong PH, De Castro Molina JA, Teo K, Tan WS

BMC palliative care 2018; (17(1)):11 doi:10.1186/s12904-017-0267-z.

Spinocerebellar Ataxia Type 2.

Scoles DR, Pulst SM

Advances in experimental medicine and biology 2018; (1049()):175-195 doi:10.1007/978-3-319-71779-1_8.

[Pediatric palliative care].

Mojžíšová M

Casopis lekaru ceskych 2018; (157(1)):37-40.

Supporting Parent Caregivers of Children with Life-Limiting Illness.

Koch KD, Jones BL

Children (Basel, Switzerland) 2018; (5(7)) doi:10.3390/children5070085.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, et al.

American journal of human genetics 2018; (103(3)):431-439 doi:10.1016/j.ajhg.2018.07.010.

The patient journey to diagnosis and treatment of autoinflammatory diseases.

Hausmann JS, Lomax KG, Shapiro A, Durrant K

Orphanet journal of rare diseases 2018; (13(1)):156 doi:10.1186/s13023-018-0902-7.

Two cases of variant late infantile ceroid lipofuscinosis in Jordan.

Nafi O, Ramadan B, Riess O, et al.

World journal of clinical cases 2019; (7(2)):203-208 doi:10.12998/wjcc.v7.i2.203.

PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.

Mashimo M, Bu X, Aoyama K, et al.

JCI insight 2019; (4(4)).

Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability.

Hnoonual A, Graidist P, Kritsaneepaiboon S, Limprasert P

Frontiers in genetics 2019; (10()):61 doi:10.3389/fgene.2019.00061.

Epileptological aspects of juvenile neuronal ceroid lipofuscinosis (CLN3 disease) through the lifespan.

Arntsen V, Strandheim J, Helland IB, et al.

Epilepsy & behavior : E&B 2019; (94()):59-64 doi:10.1016/j.yebeh.2019.02.020.

Review article: Accelerated starvation of childhood: Have I judged ketones?

Millar R, Harding A

Emergency medicine Australasia : EMA 2019; (31(3)):314-320 doi:10.1111/1742-6723.13276.

Management of Fever in Infants and Young Children.

Hamilton JL, Evans SG, Bakshi M

American family physician 2020; (101(12)):721-729.

The infantile neuroaxonal dystrophy rating scale (INAD-RS).

Atwal PS, Midei M, Adams D, et al.

Orphanet journal of rare diseases 2020; (15(1)):195 doi:10.1186/s13023-020-01479-5.

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.

Aryan H, Razmara E, Farhud D, et al.

BMC neurology 2020; (20(1)):291 doi:10.1186/s12883-020-01873-3.

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).

Durmus H, Mertoğlu E, Sticht H, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(9)):3871-3878 doi:10.1007/s10072-021-05100-w.

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease.

Prokhorova E, Agnew T, Wondisford AR, et al.

Molecular cell 2021; (81(12)):2640-2655.e8 doi:10.1016/j.molcel.2021.04.028.

Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response.

Beijer D, Agnew T, Rack JGM, et al.

Life science alliance 2021; (4(11)) doi:10.26508/lsa.202101057.

Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature.

Frongia I, Rizzi S, Baga M, et al.

Frontiers in neurology 2021; (12()):718808 doi:10.3389/fneur.2021.718808.

Top Ten Tips Palliative Care Clinicians Should Know About Prognostication in Children.

Bergstraesser E, Thienprayoon R, Brook LA, et al.

Journal of palliative medicine 2021; (24(11)):1725-1731 doi:10.1089/jpm.2021.0439.

The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child.

Demarest S, Marsh R, Treat L, et al.

Journal of child neurology 2022; (37(6)):451-460 doi:10.1177/08830738221076285.

Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2.

Lu A, Dong C, Chen B, et al.

Frontiers in neurology 2022; (13()):807291 doi:10.3389/fneur.2022.807291.

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.

Misko AL, Wood LB, DeBono M, et al.

Neurology. Genetics 2022; (8(2)):e662 doi:10.1212/NXG.0000000000000662.

Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report.

Ma J, Qian Q, Yan S, et al.

Frontiers in genetics 2021; (12()):788702 doi:10.3389/fgene.2021.788702.

Empowering Pediatric Palliative Homecare Patients and Caregivers with Symptom Management Plans.

Larrow A, Doshi A, Fisher E, et al.

Journal of pain and symptom management 2022; (64(4)):340-348 doi:10.1016/j.jpainsymman.2022.06.015.

Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

Gavazzi F, Pierce SR, Vithayathil J, et al.

Molecular genetics and metabolism 2022; (137(1-2)):26-32 doi:10.1016/j.ymgme.2022.07.009.

ARH Family of ADP-Ribose-Acceptor Hydrolases.

Ishiwata-Endo H, Kato J, Yamashita S, et al.

Cells 2022; (11(23)) doi:10.3390/cells11233853.

Needs of informal caregivers of people with a rare disease: a rapid review of the literature.

Mcmullan J, Lohfeld L, McKnight AJ

BMJ open 2022; (12(12)):e063263 doi:10.1136/bmjopen-2022-063263.

Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder.

Kalvakuntla S, Lee M, Chung WK, et al.

Frontiers in neuroscience 2023; (17()):1024388 doi:10.3389/fnins.2023.1024388.

A PARP inhibitor, rucaparib, improves cardiac dysfunction in ADP-ribose-acceptor hydrolase 3 ( Arh3 ) deficiency.

Yamashita S, Bu X, Ishiwata-Endo H, et al.

bioRxiv : the preprint server for biology 2023; doi:10.1101/2023.02.07.527369.

Unveiled central hypoventilation after tracheotomy in anti-IgLON5 disease: a case report.

Tankéré P, Le Cam P, Folliet L, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2023; (19(9)):1701-1704 doi:10.5664/jcsm.10658.

Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).

Lindskov FO, Karlsson WK, Skovbølling SL, et al.

Cerebellum (London, England) 2024; (23(2)):861-871 doi:10.1007/s12311-023-01582-w.

Living with a rare disease - experiences and needs in pediatric patients and their parents.

Witt S, Schuett K, Wiegand-Grefe S, et al.

Orphanet journal of rare diseases 2023; (18(1)):242 doi:10.1186/s13023-023-02837-9.

[Multidisciplinary care and therapeutic advances in amyotrophic lateral sclerosis].

Matamala JM, Moreno-Roco J, Acosta I, et al.

Revista medica de Chile 2022; (150(12)):1633-1646 doi:10.4067/s0034-98872022001201633.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

AlAbdi L, Shamseldin HE, Khouj E, et al.

Genome medicine 2023; (15(1)):114 doi:10.1186/s13073-023-01270-8.

Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic.

Bican R, Goddard V, Abreu N, et al.

Pediatric neurology 2024; (152()):107-114 doi:10.1016/j.pediatrneurol.2023.12.001.

Idiopathic ketotic hypoglycemia in children: an update.

Metwalley KA, Farghaly HS

Annals of pediatric endocrinology & metabolism 2024; (29(3)):152-155 doi:10.6065/apem.2346156.078.

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.

Öz Yıldız S, Yalnızoğlu D, Şimsek Kiper PÖ, et al.

Neuropediatrics 2024; (55(3)):156-165 doi:10.1055/s-0044-1779618.

A Dutch paediatric palliative care guideline: a systematic review and evidence-based recommendations for symptom treatment.

van Teunenbroek KC, Mulder RL, Ahout IML, et al.

BMC palliative care 2024; (23(1)):72 doi:10.1186/s12904-024-01367-w.

Humanistic burden of pediatric type 1 diabetes on children and informal caregivers: systematic literature reviews.

Allen V, Mahieu A, Kasireddy E, et al.

Diabetology & metabolic syndrome 2024; (16(1)):73 doi:10.1186/s13098-024-01310-2.

The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.

Stafford-Smith B, Sullivan JA, McAllister M, et al.

Journal of genetic counseling 2025; (34(1)):e1894 doi:10.1002/jgc4.1894.

The impact of specialized pediatric palliative care on advance care planning and healthcare utilization in children and young adults: a retrospective analysis of medical records of in-hospital deaths.

Kim CH, Lee J, Lee JW, Kim MS

BMC palliative care 2024; (23(1)):127 doi:10.1186/s12904-024-01448-w.

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.

Heath O, Hammerl E, Spitzinger A, Wortmann SB

Journal of personalized medicine 2024; (14(5)) doi:10.3390/jpm14050523.

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases.

Bowman P, Grimes H, Dallosso AR, et al.

Developmental medicine and child neurology 2025; (67(1)):126-131 doi:10.1111/dmcn.15985.

A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.

Bannister M, Bray S, Aggarwal A, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.06.14.597428.

Novel heterozygous variant of ADPRHL2 causes pathogenic variation in CONDSIAS.

Yan S, Ren J, Su H, et al.

Heliyon 2024; (10(14)):e32945 doi:10.1016/j.heliyon.2024.e32945.

A Dutch paediatric palliative care guideline: a systematic review and recommendations on advance care planning and shared decision-making.

van Teunenbroek KC, Mulder RL, van Heel DAM, et al.

BMC palliative care 2024; (23(1)):270 doi:10.1186/s12904-024-01568-3.

An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.

Bannister M, Bray S, Aggarwal A, et al.

HGG advances 2025; (6(1)):100386 doi:10.1016/j.xhgg.2024.100386.

Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives.

Sloper E, Hunt M, Clarke AJ

Orphanet journal of rare diseases 2024; (19(1)):477 doi:10.1186/s13023-024-03483-5.

First Seizures, Acute Repetitive Seizures, and Status Epilepticus.

Vossler DG

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

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.

Sartorelli J, Pomponi MG, Garone G, et al.

Brain sciences 2025; (15(2)) doi:10.3390/brainsci15020156.

What Constitutes High-Quality Paediatric Palliative Care? A Qualitative Exploration of the Perspectives of Children, Young People, and Parents.

Braybrook D, Coombes L, Scott HM, et al.

The patient 2025; (18(5)):539-561 doi:10.1007/s40271-025-00744-8.

Phenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract.

Nandana J, Fasaludeen A, Kumar AA, et al.

Cerebellum (London, England) 2025; (24(4)):112 doi:10.1007/s12311-025-01866-3.

Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.

Ono S, Nakamura M, Ikegami T, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(10)):5417-5421 doi:10.1007/s10072-025-08332-2.

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.

Community-based pediatric palliative care: a systematic review of structures, processes, and outcomes.

Acuña-Caicedo SA, González-Brossard AG, Pérez-González LE, et al.

Jornal de pediatria 2026; (102(2)):101510 doi:10.1016/j.jped.2026.101510.

Caregiver-reported social impacts in down syndrome regression disorder.

Chow KN, Kazerooni L, Lucas MC, et al.

PloS one 2026; (21(2)):e0342148 doi:10.1371/journal.pone.0342148.

Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.

Neul JL, Benke TA, Marsh ED, et al.

Journal of neurodevelopmental disorders 2026; (18(1)).

PHOX2B Tyr14Ter Mutation Might Be Associated with Sustained Diurnal Hypertension: Case Report and Review of the Literature.

Antonelli F, Sottili S, Paglietti MG, et al.

Children (Basel, Switzerland) 2026; (13(3)) doi:10.3390/children13030425.

Novel ADPRS Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and Seizures.

de Mattos PD, de Moura RD, Bertolino MF, et al.

Neurology. Genetics 2026; (12(3)):e200375 doi:10.1212/NXG.0000000000200375.

Cognitive and emotional experiences of parents of children with Tyrosine Hydroxylase Deficiency during the diagnostic journey in Serbia: A preliminary study.

Krstić T, Milankov V, Golubović Š

Journal of genetic counseling 2026; (35(3)):e70231 doi:10.1002/jgc4.70231.

Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.

Kovalskaia VA, Maslennikov DN, Svirepova KA, et al.

Human genomics 2026; (20(1)).

Consensus definition for developmental regression during childhood.

Gawade G, Andersson EP, Nielsen A, et al.

Developmental medicine and child neurology 2026; doi:10.1111/dmcn.70392.

Seizure Action Plans Beyond the Neurology Clinic: What Emergency, School, and Primary Care Teams Need to Know for Children With Epilepsy.

Lustig MC

Journal of child neurology 2026; 8830738261472511 doi:10.1177/08830738261472511.

Evaluation of the appropriateness of pediatric seizure Management in Primary Care Clinics.

Matsuda S, Akiba T, Kondo N, et al.

Epilepsy & behavior reports 2026; (35()):100891 doi:10.1016/j.ebr.2026.100891.

Facilitators and barriers for interdisciplinary collaboration in pediatric palliative care: A cross-sectional survey.

Kemna MM, Engel M, De Graaf E, et al.

Palliative medicine 2026; 2692163261482013 doi:10.1177/02692163261482013.

Beyond Seizure Management in a Developmental Epileptic Encephalopathy: Expanding the SLC6A1 Neurodevelopmental Disorder Phenotype.

Varnet ME, Dahshi H, Goodspeed K, et al.

Neurology. Genetics 2026; (12(5)):e200436 doi:10.1212/NXG.0000000000200436.

CONDSIAS, a Stress-Triggered Childhood Neurodegeneration: Four Novel ADPRS Variants and a Structured Review of the Reported Phenotype.

Comisi FF, Staccioli S, Travaglini L, et al.

Cerebellum (London, England) 2026; (25(6)).