Do the Clinical Features in Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia) Correlate With Brain Magnetic Resonance Imaging Findings?

Salman, Michael S.; Ikeda, Kristin M.

doi:10.1097/wno.0000000000000122

Cited by 6 publications

(1 citation statement)

References 26 publications

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“…MRI in COMA was reported to be either normal or show a vermian hypoplasia, preferentially of the inferior portion of the vermis [ 13 , 14 ]. A recent review of studies performed between 1952 and 2012 included 91 patients with a clinical phenotype consistent with COMA and found MRI to be allegedly normal in 55 of them [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Wente

Schröder

Buckard

et al. 2016

Orphanet J Rare Dis

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BackgroundThe nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom.MethodsWe performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA.ResultsOcular motor apraxia (OMA) was recognized during the first year of life and confined to horizontal pursuit in all patients. OMA attenuated over the years in most cases, regressed completely in two siblings, and persisted unimproved in one individual. Accompanying clinical features included early onset ataxia in most patients and cognitive impairment with learning disability (n = 6) or intellectual disability (n = 4). Re-evaluation of MRI data sets revealed a hitherto unrecognized molar tooth sign diagnostic for Joubert syndrome in 11 patients, neuroimaging features of Poretti-Boltshauser syndrome in one case and cerebral malformation suspicious of a tubulinopathy in another subject. In the remainder, MRI showed vermian hypo-/dysplasia in 4 and no abnormalities in another 4 patients. There was a strong trend to more severe cognitive impairment in patients with Joubert syndrome compared to those with inconclusive MRI, but otherwise no significant difference in clinical phenotypes between these two groups.ConclusionsSystematical renewed analysis of neuroimaging data resulted in a diagnostic reappraisal in the majority of patients with early-onset OMA in the cohort reported here. This finding poses a further challenge to the notion of COMA constituting a separate entity and underlines the need for an expert assessment of neuroimaging in children with COMA, especially if they show cognitive impairment.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0486-z) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Wente

Schröder

Buckard

et al. 2016

Orphanet J Rare Dis

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Ocular Motor Apraxia

Tilikete

Robert

2019

Contemporary Clinical Neuroscience

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Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia)

Salman

2015

Curr Neurol Neurosci Rep

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Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders.

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Do the Clinical Features in Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia) Correlate With Brain Magnetic Resonance Imaging Findings?

Abstract: The direction of head thrust and the integrity of the slow phases of the OKR are useful clinical indicators of possible sites of abnormality on brain MRI in patients with ISID.

Cited by 6 publications

References 26 publications

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Ocular Motor Apraxia

Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia)

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