SHORT REPORT Oculomotor abnormalities parallel cerebellar histopathology in autism
نویسندگان
چکیده
Objective: To investigate cerebellar function in autism by measuring visually guided saccades. Methods: A visually guided saccade task was performed by 46 high-functioning individuals with autism with and without delayed language acquisition, and 104 age and IQ matched healthy individuals. Results: Individuals with autism had increased variability in saccade accuracy, and only those without delayed language development showed a mild saccadic hypometria. Neither autistic group showed a disturbance in peak saccade velocity or latency. Conclusions: The observed saccadic abnormalities suggest a functional disturbance in the cerebellar vermis or its output through the fastigial nuclei, consistent with reported cerebellar histopathology in autism. The pattern of mild hypometria and variable saccade accuracy is consistent with chronic rather than acute effects of cerebellar vermis lesions reported in clinical and non-human primate studies, as might be expected in a neurodevelopmental disorder. The different patterns of oculomotor deficits in individuals with autism with and without delayed language development suggest that pathophysiology at the level of the cerebellum may differ depending on an individual’s history of language development.
منابع مشابه
Cerebellar vermis and midbrain dysgenesis in oculomotor apraxia: MR findings.
The MR imaging findings in two patients with the clinical diagnosis of oculomotor apraxia are presented. Both cases showed dysgenesis of the cerebellar vermis, and the colliculi were fused in one patient. No supratentorial abnormalities were seen in either patient.
متن کاملSpinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism
Purpose: To disclose the association between spinocerebellar ataxia with oculomotor apraxia and high grade (7 diopters) congenital astigmatism. Methods: Single observational case report. A 39-year-old patient affected by spinocerebellar ataxia from the age of 20 was submitted to genetic and ophthalmic investigations to reach a diagnosis. Results: Genetic testing did not lead to a sure diagnosis...
متن کاملExome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
BACKGROUND Spinocerebellar ataxias (SCAs) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed with recessive SCA. METHOD The patient is a 37-year-old Japanese woman with consanguineous parent...
متن کاملNeurobehavioral abnormalities in first-degree relatives of individuals with autism.
CONTEXT Studying sensorimotor and neurocognitive impairments in unaffected family members of individuals with autism may help identify familial pathophysiological mechanisms associated with the disorder. OBJECTIVE To determine whether atypical sensorimotor or neurocognitive characteristics associated with autism are present in first-degree relatives of individuals with autism. DESIGN Case-c...
متن کاملSaccade Adaptation Abnormalities Implicate Dysfunction of Cerebellar-Dependent Learning Mechanisms in Autism Spectrum Disorders (ASD)
The cerebellar vermis (lobules VI-VII) has been implicated in both postmortem and neuroimaging studies of autism spectrum disorders (ASD). This region maintains the consistent accuracy of saccadic eye movements and plays an especially important role in correcting systematic errors in saccade amplitudes such as those induced by adaptation paradigms. Saccade adaptation paradigms have not yet been...
متن کامل