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The Syndrome of Infantile-Onset Saccade Initiation Delay

Published online by Cambridge University Press:  23 September 2014

Michael S. Salman  and
Kristin M. Ikeda
Michael S. Salman*
Affiliation:
Section of Pediatric Neurology, Children's Hospital, University of Manitoba, Winnipeg, Manitoba
Kristin M. Ikeda
Affiliation:
Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
*
Section of Pediatric Neurology, Children's Hospital, AE 308, 820 Sherbrook Street, Winnipeg, Manitoba, R3A 1R9, Canada. Email: msalman@hsc.mb.ca.
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Abstract

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Introduction:

Infantile-onset saccade initiation delay (ISID), also known as congenital ocular motor apraxia, is characterized by the inability to initiate volitional horizontal saccades. Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. We performed a detailed review of the medical literature to quantify features of ISID.

Methods:

We searched the English medical literature for articles related to ISID from 1952 to 2010. Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The minimum prevalence was calculated for each abnormality.

Results:

Sixty-six articles with information on 288 patients were included in the analysis. Head thrusts were reported in 84.7%. Blinks without head thrusts were used to initiate saccades in 41%. The fast phases of the optokinetic response and vestibulo-ocular reflex were impaired in 69.8% and 34.4% respectively. Smooth ocular pursuit was abnormal in 33%. Global developmental delay occurred in 41.3%, speech or language delay in 36.5%, cognitive delay in 17%, hypotonia in 35.8%, motor delay in 48.6%, and ataxia/clumsiness in 49.3% of patients. Neuroimaging was performed on 197 patients and was normal in 39.1%. Abnormalities involved the cerebellum (24.9%), cerebrum (15.7%), other infratentorial structures (11.7%), and corpus callosum (6.1%).

Conclusions:

Infantile-onset saccade initiation delay is frequently associated with deficits in reflexive saccades and less frequently with impaired smooth ocular pursuit. Developmental delay, hypotonia, and ataxia occur frequently in ISID, suggesting more global brain impairment and not just a saccadic disorder.

Résumé:

Résumé: Contexte:

Le syndrome infantile du retard d'initiation des saccades (SIRIS), aussi connu sous le mon d'apraxie motrice oculaire congénitale, est caractérisé par une inhabilité à initier des saccades horizontales volontaires. D'autres anomalies telles un retard de développement et une ataxie ont également été rapportées. La fréquence de ces anomalies est inconnue. Nous avons effectué une revue détaillée de la littérature médicale pour quantifier les manifestations du SIRIS.

Méthode:

Nous avons recherché des articles sur le SIRIS publiés en anglais de 1952 à 2010. Quand il était possible de le faire, nous avons exclu les patients qui présentaient un SIRIS acquis, un syndrome de Joubert ou des problèmes neurodégénératifs. Une prévalence minimale a été calculée pour chaque anomalie.

Résultats:

Soixante-six articles contenant de l'information au sujet de 288 patients ont été inclus dans l'analyse. Un déplacement compensateur brusque de la tête a été rapporté chez 84,7% des patients et un clignotement des paupières sans déplacement brusque de la tête était utilisé pour initier des saccades chez 41%. Les phases rapides de la réponse optokinétique était altérée chez 69,8% des patients et le réflexe vestibulo-oculaire était altéré chez 34,4%. La poursuite oculaire lente était anormale chez 33%. Un retard de développement global était présent chez 41,3%, un retard de la parole ou du langage chez 36,5%, un retard cognitif chez 17%, de l'hypotonie chez 35,8%, un retard moteur chez 48,6% et de l'ataxie/de la maladresse chez 49,3% des patients. La neuroimagerie était normale chez 39,1% des 197 patients chez qui elle avait été effectuée. Les anomalies observées affectaient le cervelet chez 24,9%, le cerveau chez 15,7%, d'autres structures sous-tentorielles chez 11,7% et le corps calleux chez 6,1%.

Conclusions:

Le SIRIS est souvent associé à des déficits des saccades réflexes et moins fréquemment à un défaut de la poursuite oculaire lente. Un retard de développement, de l'hypotonie et de l'ataxie sont souvent observés dans le SIRIS, ce qui suggère qu'il existe une atteinte cérébrale plus globale, pas uniquement un trouble des saccades.

Type
Original Article
Information
Canadian Journal of Neurological Sciences , Volume 40 , Issue 2 , March 2013 , pp. 235 - 240
Copyright
Copyright © The Canadian Journal of Neurological 2013

References

1. Harris, CM, Shawkat, F, Russell-Eggitt, I, Wilson, J, Taylor, D. Intermittent horizontal saccade failure (‘ocular motor apraxia’) in children. Br J Ophthalmol. 1996;80:151–8.Google Scholar
2. Kondo, A, Saito, Y, Floricel, F, Maegaki, Y, Ohno, K. Congenital ocular motor apraxia: clinical and neuroradiological findings, and long-term intellectual prognosis. Brain Dev. 2007;29:431–8.Google Scholar
3. Salman, MS, Ikeda, KM. Disconnections in infantile-onset saccade initiation delay: A hypothesis. Can J Neurol Sci. 2010;37:779–82.CrossRefGoogle ScholarPubMed
4. Shawkat, FS, Kingsley, D, Kendall, B, Russell-Eggitt, I, Taylor, DSI, Harris, CM. Neuroradiological and eye movement correlates in children with intermittent saccade failure: “Ocular motor apraxia”. Neuropediatrics. 1995;26:298–305.Google Scholar
5. Zee, DS, Yee, RD, Singer, HS. Congenital ocular motor apraxia. Brain. 1977;100:581–99.Google Scholar
6. Harris, CM, Hodgkins, PR, Kriss, A, et al. Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia. Dev Med Child Neurol. 1998;40:775–9.CrossRefGoogle ScholarPubMed
7. Anteby, I, Lee, B, Noetzel, M, Tychsen, L. Variants of congenital ocular motor apraxia: Associations with hydrocephalus, pontocerebellar tumor, and a deficit of vertical saccades. JAAPOS. 1997;1:201–8.Google Scholar
8. Ebner, R, Lopez, L, Ochoa, S, Crovetto, L. Vertical ocular motor apraxia. Neurology. 1990;40:712–3.CrossRefGoogle ScholarPubMed
9. Garbutt, S, Harris, CM. Abnormal vertical optokinetic nystagmus in infants and children. Br. J Ophthalmol. 2000;84:451–5.Google Scholar
10. Ro, A, Gummeson, B, Orton, RB, Cadera, W. Vertical congenital ocular motor apraxia. Can J Ophthalmol. 1989;24:283–5.Google ScholarPubMed
11. Hughes, JL, O’Connor, PS, Larsen, PD, Mumma, JV. Congenital vertical ocular motor apraxia. J Clin Neuroophthalmol. 1985;5:153–7.Google Scholar
12. Jan, JE, Kearney, S, Groenveld, M, Sargent, MA, Poskitt, KJ. Speech, cognition and imaging studies in congenital ocular motor apraxia. Dev Med Child Neurol. 1998;40:95–9.Google Scholar
13. Fielder, AR, Gresty, MA, Dodd, KL, Mellor, DH, Levene, MI. Congenital ocular motor apraxia. Trans Ophthalmol Soc UK. 1986;105:589–98.Google Scholar
14. Kim, JS, Park, SH, Lee, KW. Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. Arch Neurol. 2003;60:1621–4.CrossRefGoogle ScholarPubMed
15. Whitsel, EA, Castillo, M, D’Cruz, D. Cerebellar vermis and midbrain dysgenesis in oculomotor apraxia: MR findings. Am J Neuroradiol. 1995;16:831–4.Google Scholar
16. Marr, JE, Green, SH, Willshaw, HE. Neurodevelopmental implications of ocular motor apraxia. Dev Med Child Neurol. 2005;47:815–9.Google Scholar
17. Sargent, MA, Poskitt, KJ, Jan, JE. Congenital ocular motor apraxia: Imaging findings. Am J Neuroradiol. 1997;18:1915–22.Google Scholar
18. Grigorian, AP, Fray, KJ, Brodsky, MC, Phillips, PH. Neurodevelopmental outcomes with congenital ocular motor apraxia. Br J Ophthalmol. 2010;94:265–7.Google Scholar
19. Le Ber, I, Bouslam, N, Rivaud-Péchoux, S, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain. 2004;127:759–67.Google Scholar
20. Le Ber, I, Moreira, M, Rivaud-Péchoux, S, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain. 2003;126:2761–72.CrossRefGoogle ScholarPubMed
21. Tusa, RJ, Hove, MT. Ocular and oculomotor signs in Joubert syndrome. J Child Neurol. 1999;14(10):621–7.Google Scholar
22. Sharpe, JA, Johnston, JL. Ocular motor paresis versus apraxia. Ann Neurol. 1989;25:209–10.Google Scholar
23. Vassella, F, Lutschg, J, Mumenthaler, M. Cogan’s congenital ocular motor apraxia in two successive generations. Dev Med Child Neurol. 1972;14:788–803.Google Scholar
24. Cogan, DG. A type of congenital ocular motor apraxia presenting jerky head movements. Trans Am Acad of Ophthalmol Otolaryngol. 1952;56:853–62.Google ScholarPubMed