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The Syndrome of Infantile-Onset Saccade Initiation Delay

  • Michael S. Salman (a1) and Kristin M. Ikeda (a2)



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.


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.


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%).


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: 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.


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.


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%.


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.

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Corresponding author

Section of Pediatric Neurology, Children's Hospital, AE 308, 820 Sherbrook Street, Winnipeg, Manitoba, R3A 1R9, Canada. Email:


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The Syndrome of Infantile-Onset Saccade Initiation Delay

  • Michael S. Salman (a1) and Kristin M. Ikeda (a2)


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