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Editorial| Volume 32, PA4-A5, May 2021

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Revision of the diagnostic criteria of alternating hemiplegia of childhood

  • Mohamad A. Mikati
    Affiliations
    Division of Pediatric Neurology and Developmental Medicine, Department of Pediatrics, And Department of Neurobiology, Duke University, USA
    Search for articles by this author
  • Eleni Panagiotakaki
    Affiliations
    Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France
    Search for articles by this author
  • Alexis Arzimanoglou
    Correspondence
    Corresponding author. Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Lyon, France.
    Affiliations
    Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France
    Department of Child Neurology and Epilepsy Research Unit, Member of the ERN EpiCARE, Hospital San Juan de Dios, Barcelona, Spain
    Search for articles by this author
Published:May 03, 2021DOI:https://doi.org/10.1016/j.ejpn.2021.05.004
Revision of the diagnostic criteria of alternating hemiplegia of childhood
Previous ArticleThe importance of dystonia in cerebral palsy
      Alternating Hemiplegia of Childhood (AHC) is a severe pediatric neurological disorder [
      • Bourgeois M.
      • Aicardi J.
      • Goutières F.
      Alternating hemiplegia of childhood.
      J. Pediatr. 1993; 122: 673-679
      ,
      • Mikati M.A.
      • Maguire H.
      • Barlow C.F.
      • Ozelius L.
      • Breakefield X.O.
      • Klauck S.M.
      • Korf B.
      • O'Tuama S.L.
      • Dangond F.
      A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.
      Neurology. 1992 Dec; 42 (PMID: 1361034): 2251-2257https://doi.org/10.1212/wnl.42.12.2251
      ,
      • Mikati M.A.
      • Kramer U.
      • Zupanc M.L.
      • Shanahan R.J.
      Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.
      Pediatr. Neurol. 2000; 23: 134-141
      ,
      • Panagiotakaki E.
      • Gobbi G.
      • Neville B.
      • et al.
      Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
      Brain. 2010; 133: 3598-3610
      ,
      • Vuillaumier-Barrot S.
      • Panagiotakaki E.
      • Le Bizec C.
      • El Baba C.
      • Fontaine B.
      • Arzimanoglou A.
      • Seta N.
      • Nicole S.
      ENRAHs for SME Consortium
      Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).
      Neuropediatrics. 2010 Dec; 41 (Epub 2011 Mar 28. PMID: 21445818): 267-269https://doi.org/10.1055/s-0031-1271767
      ,
      • Fons C.
      • Campistol J.
      • Panagiotakaki E.
      • Giannotta M.
      • Arzimanoglou A.
      • Gobbi G.
      • Neville B.
      • Ebinger F.
      • Nevšímalová S.
      • Laan L.
      • Casaer P.
      • Spiel G.
      • Ninan M.
      • Sange G.
      • Artuch R.
      • Schyns T.
      • Vavassori R.
      • Poncelin D.
      ENRAH Consortium
      Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
      Eur. J. Paediatr. Neurol. 2012 Jan; 16 (Epub 2011 Sep 25. PMID: 21945173): 10-14https://doi.org/10.1016/j.ejpn.2011.08.006
      ,
      • Heinzen E.L.
      • Swoboda K.J.
      • Hitomi Y.
      • et al.
      De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
      Nat. Genet. 2012; 44: 1030-1034
      ,
      • Heinzen E.L.
      • Arzimanoglou A.
      • Brashear A.
      • et al.
      Distinct neurological disorders with ATP1A3 mutations.
      Lancet Neurol. 2014; 13: 503-514
      ,
      • Masoud M.
      • Prange L.
      • Wuchich J.
      • Hunanyan A.
      • Mikati M.A.
      Diagnosis and treatment of alternating hemiplegia of childhood.
      Curr. Treat. Options Neurol. 2017; 19: 8
      ]. It manifests a spectrum of manifestations some of which occur in most or all patients and the others occurring less frequently. These manifestations include paroxysmal events of hemiplegia, quadriplegia, dystonia, abnormal eye movements, autonomic dysfunction, altered awareness and epilepsy. AHC has an estimated prevalence of 1/1,000,000 children although this could be ten times higher [
      • Hoei-Hansen C.E.
      • Dali C.Í.
      • Lyngbye T.J.
      • Duno M.
      • Uldall P.
      Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
      Eur. J. Paediatr. Neurol. 2014 Jan; 18 (Epub 2013 Sep 25. PMID: 24100174): 50-54https://doi.org/10.1016/j.ejpn.2013.08.007
      ], and approximately 75% of clinically-diagnosed cases are due to de novo mutations in the ATP1A3 gene. Tens of mutations have been described but the most common are the D801 N, then E815K and then G947R mutations [
      • Fons C.
      • Campistol J.
      • Panagiotakaki E.
      • Giannotta M.
      • Arzimanoglou A.
      • Gobbi G.
      • Neville B.
      • Ebinger F.
      • Nevšímalová S.
      • Laan L.
      • Casaer P.
      • Spiel G.
      • Ninan M.
      • Sange G.
      • Artuch R.
      • Schyns T.
      • Vavassori R.
      • Poncelin D.
      ENRAH Consortium
      Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
      Eur. J. Paediatr. Neurol. 2012 Jan; 16 (Epub 2011 Sep 25. PMID: 21945173): 10-14https://doi.org/10.1016/j.ejpn.2011.08.006
      ,
      • Heinzen E.L.
      • Swoboda K.J.
      • Hitomi Y.
      • et al.
      De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
      Nat. Genet. 2012; 44: 1030-1034
      ,
      • Heinzen E.L.
      • Arzimanoglou A.
      • Brashear A.
      • et al.
      Distinct neurological disorders with ATP1A3 mutations.
      Lancet Neurol. 2014; 13: 503-514
      ,
      • Masoud M.
      • Prange L.
      • Wuchich J.
      • Hunanyan A.
      • Mikati M.A.
      Diagnosis and treatment of alternating hemiplegia of childhood.
      Curr. Treat. Options Neurol. 2017; 19: 8
      ,
      • Hoei-Hansen C.E.
      • Dali C.Í.
      • Lyngbye T.J.
      • Duno M.
      • Uldall P.
      Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
      Eur. J. Paediatr. Neurol. 2014 Jan; 18 (Epub 2013 Sep 25. PMID: 24100174): 50-54https://doi.org/10.1016/j.ejpn.2013.08.007
      ]. The diagnosis, before the gene discovery in 2012 was based on clinical criteria named after Professor Aicardi who articulated them in his publications and these were used to ascertain patients for the gene discovery work as well as for subsequent studies [
      • Bourgeois M.
      • Aicardi J.
      • Goutières F.
      Alternating hemiplegia of childhood.
      J. Pediatr. 1993; 122: 673-679
      ,
      • Mikati M.A.
      • Maguire H.
      • Barlow C.F.
      • Ozelius L.
      • Breakefield X.O.
      • Klauck S.M.
      • Korf B.
      • O'Tuama S.L.
      • Dangond F.
      A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.
      Neurology. 1992 Dec; 42 (PMID: 1361034): 2251-2257https://doi.org/10.1212/wnl.42.12.2251
      ,
      • Mikati M.A.
      • Kramer U.
      • Zupanc M.L.
      • Shanahan R.J.
      Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.
      Pediatr. Neurol. 2000; 23: 134-141
      ,
      • Panagiotakaki E.
      • Gobbi G.
      • Neville B.
      • et al.
      Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
      Brain. 2010; 133: 3598-3610
      ,
      • Vuillaumier-Barrot S.
      • Panagiotakaki E.
      • Le Bizec C.
      • El Baba C.
      • Fontaine B.
      • Arzimanoglou A.
      • Seta N.
      • Nicole S.
      ENRAHs for SME Consortium
      Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).
      Neuropediatrics. 2010 Dec; 41 (Epub 2011 Mar 28. PMID: 21445818): 267-269https://doi.org/10.1055/s-0031-1271767
      ,
      • Fons C.
      • Campistol J.
      • Panagiotakaki E.
      • Giannotta M.
      • Arzimanoglou A.
      • Gobbi G.
      • Neville B.
      • Ebinger F.
      • Nevšímalová S.
      • Laan L.
      • Casaer P.
      • Spiel G.
      • Ninan M.
      • Sange G.
      • Artuch R.
      • Schyns T.
      • Vavassori R.
      • Poncelin D.
      ENRAH Consortium
      Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
      Eur. J. Paediatr. Neurol. 2012 Jan; 16 (Epub 2011 Sep 25. PMID: 21945173): 10-14https://doi.org/10.1016/j.ejpn.2011.08.006
      ,
      • Heinzen E.L.
      • Swoboda K.J.
      • Hitomi Y.
      • et al.
      De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
      Nat. Genet. 2012; 44: 1030-1034
      ,
      • Heinzen E.L.
      • Arzimanoglou A.
      • Brashear A.
      • et al.
      Distinct neurological disorders with ATP1A3 mutations.
      Lancet Neurol. 2014; 13: 503-514
      ,
      • Masoud M.
      • Prange L.
      • Wuchich J.
      • Hunanyan A.
      • Mikati M.A.
      Diagnosis and treatment of alternating hemiplegia of childhood.
      Curr. Treat. Options Neurol. 2017; 19: 8
      ] There were subsequent laudable adaptations of these criteria [
      • Rosewich H.
      • Sweney M.T.
      • DeBrosse S.
      • Ess K.
      • Ozelius L.
      • Andermann E.
      • Andermann F.
      • Andrasco G.
      • Belgrade A.
      • Brashear A.
      • Ciccodicola S.
      • Egan L.
      • George Jr., A.L.
      • Lewelt A.
      • Magelby J.
      • Merida M.
      • Newcomb T.
      • Platt V.
      • Poncelin D.
      • Reyna S.
      • Sasaki M.
      • Sotero de Menezes M.
      • Sweadner K.
      • Viollet L.
      • Zupanc M.
      • Silver K.
      • Swoboda K.
      Research conference summary from the 2014 international task force on ATP1A3-related disorders.
      Neurol. Genet. 2017 Mar 2; 3 (PMID: 28293679; PMCID: PMC5335249): e139https://doi.org/10.1212/NXG.0000000000000139
      ,
      IHS Classification ICHD-3. International Headache Society, London2019
      ichd-3.org/appendix/a1-migraine/a1-6-episodic-syndromes-that-may-be-associated-with-migraine/a1-6-5-alternating-hemiplegia-of-childhood/
      ]. However, the understanding of the spectrum of the clinical manifestations of AHC has been evolving suggesting that revisiting these criteria is warranted [
      • Panagiotakaki E.
      • De Grandis E.
      • Stagnaro M.
      • et al.
      Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients.
      Orphanet J. Rare Dis. 2015; 10: 123
      ,
      • Uchitel J.
      • Helseth A.
      • Prange L.
      • et al.
      The epileptology of alternating hemiplegia of childhood.
      Neurology. 2019; 93: e1248-e1259https://doi.org/10.1212/WNL.0000000000008159
      ,
      • Jasien J.M.
      • Bonner M.
      • D’alli R.
      • et al.
      Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.
      Dev. Med. Child Neurol. 2018; (Published online October 26)https://doi.org/10.1111/dmcn.1407
      ,
      • Uchitel J.
      • Abdelnour E.
      • Boggs A.
      • et al.
      Social impairments in alternating hemiplegia of childhood.
      Dev. Med. Child. Neurol. 2020; 7 (Published online February)https://doi.org/10.1111/dmcn.14473
      ,
      • Masoud M.
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      • Hall A.
      • et al.
      Motor function domains in alternating hemiplegia of childhood.
      Dev. Med. Child Neurol. 2017; 59: 822-828https://doi.org/10.1111/dmcn.13443
      ,
      • Ghusayni R.
      • Richardson J.P.
      • Uchitel J.
      • et al.
      Magnetic resonance imaging volumetric analysis in patients with Alternating hemiplegia of childhood: a pilot study.
      Eur. J. Paediatr. Neurol. 2020; 13 (Published online February)https://doi.org/10.1016/j.ejpn.2020.02.001
      ,
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      ,
      • Panagiotakaki E.
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      • Nogue E.
      • Nagot N.
      • Lesca G.
      • Riant F.
      • Nicole S.
      • Delaygue C.
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      • Nassogne M.C.
      • Dusser A.
      • Vallée L.
      • Billette T.
      • Bourgeois M.
      • Ioos C.
      • Gitiaux C.
      • Laroche C.
      • Milh M.
      • Portes V.D.
      • Arzimanoglou A.
      • Roubertie A.
      AHC–Movement Disorder Study Group. Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
      Neurology. 2020 Mar 31; 94 (Epub 2020 Mar 2. PMID: 32123049): e1378-e1385https://doi.org/10.1212/WNL.0000000000009175
      ,
      • Termsarasab P.
      • Yang A.C.
      • Frucht S.J.
      Intermediate phenotypes of ATP1A3 mutations: phenotype-genotype correlations.
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      ,
      • Panagiotakaki E.
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      • Nogue E.
      • Nagot N.
      • Lesca G.
      • Riant F.
      • Nicole S.
      • Delaygue C.
      • Barthez M.A.
      • Nassogne M.C.
      • Dusser A.
      • Vallée L.
      • Billette T.
      • Bourgeois M.
      • Ioos C.
      • Gitiaux C.
      • Laroche C.
      • Milh M.
      • Portes V.D.
      • Arzimanoglou A.
      • Roubertie A.
      AHC–Movement Disorder Study Group. Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
      Neurology. 2020 Mar 31; 94 (Epub 2020 Mar 2. PMID: 32123049): e1378-e1385https://doi.org/10.1212/WNL.0000000000009175
      ,
      • Capuano A.
      • Garone G.
      • Tiralongo G.
      • Graziola F.
      Alternating hemiplegia of childhood: understanding the genotype-phenotype relationship of ATP1A3 variations.
      Appl. Clin. Genet. 2020 Mar 30; 13 (PMID: 32280259; PMCID: PMC7125306): 71-81https://doi.org/10.2147/TACG.S210325
      ,
      • Maas R.P.P.W.M.
      • Kamsteeg E.J.
      • Mangano S.
      • Vázquez López M.E.
      • Nicolai J.
      • Silver K.
      • Fernández-Alvarez E.
      • Willemsen M.A.A.P.
      Benign nocturnal alternating hemiplegia of childhood: a clinical and nomenclatural reappraisal.
      Eur. J. Paediatr. Neurol. 2018 Nov; 22 (Epub 2018 Aug 15. PMID: 30194039): 1110-1117https://doi.org/10.1016/j.ejpn.2018.07.012
      ,
      • Stagnaro M.
      • Pisciotta L.
      • Gherzi M.
      • Di Rocco M.
      • Gurrieri F.
      • Parrini E.
      • Prato G.
      • Veneselli E.
      • De Grandis E.
      ATP1A3 spectrum disorders: a video-documented history of 7 genetically confirmed early onset cases.
      Eur. J. Paediatr. Neurol. 2018 Mar; 22 (0.1016/j.ejpn.2018.01.010) (Epub 2018 Jan 31. PMID: 29396171): 264-271
      ]. Also, the presence of the ATP1A3 mutations is important to include in a revision of the AHC diagnostic criteria. In addition, there is often confusion in the literature in which patients who have had episodes of hemiplegia on either side and are children are considered to have AHC. The point is that not every alternating hemiplegia during childhood is alternating hemiplegia of childhood. The first i.e. hemiplegia that alternates sides, is a symptom the second, i.e. AHC, is a disorder.

      Keywords

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      References

        • Bourgeois M.
        • Aicardi J.
        • Goutières F.
        Alternating hemiplegia of childhood.
        J. Pediatr. 1993; 122: 673-679
        View in Article
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        • Maguire H.
        • Barlow C.F.
        • Ozelius L.
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        • Klauck S.M.
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        View in Article
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        View in Article
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      Article info

      Publication history

      Published online: May 03, 2021

      Identification

      DOI: https://doi.org/10.1016/j.ejpn.2021.05.004

      Copyright

      © 2021 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.

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