Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, their families and societies worldwide, as these individuals can experience lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioural anomalies. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and aetiology, thereby hampering timely and adequate management. In this article, the international MCD network Neuro-MIG provides consensus recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs with the aim of improving patient management worldwide. We reviewed the literature on clinical presentation, aetiology and diagnostic approaches for the main MCD subtypes and collected data on current practices and recommendations from clinicians and diagnostic laboratories within Neuro-MIG. We reached consensus by 42 professionals from 20 countries, using expert discussions and a Delphi consensus process. We present a diagnostic workflow that can be applied to any individual with MCD and a comprehensive list of MCD-related genes with their associated phenotypes. The workflow is designed to maximize the diagnostic yield and increase the number of patients receiving personalized care and counselling on prognosis and recurrence risk.

Objective: This article presents the healthy pattern of eye movements (EM) in 145 healthy volunteers from 20 to 86 years old. Volunteers were classified into four groups according to their age. A saccadic paradigm, in horizontal and vertical axes, was performed. We described a pattern behavior in healthy volunteers to demonstrate that it can be used to measure the aging and functionality of the brain. Methods: A gaze-tracker based in video-oculography technology was used. Before EM tests, clinical data were collected, participants performed a cognitive test to discard subtle abnormalities and signed an informed consent form. To demonstrate the relationship between EM and brain aging, a linear or quadratic model was computed and statistical analysis among groups was presented. Conclusion: EM variables could be considered as biomarkers to measure the aging effect and functionality of the brain. Video-oculography is a suitable technique for measuring EM in clinical practice. Significance: The ocular healthy pattern as well as the methodology followed in this clinical study, is the base for ongoing studies aiming to incorporate EM analysis at routine practice as markers in early diagnosis for patients with neurodegenerative diseases like Alzheimer's dementia or Parkinson's disease.INDEX TERMS Aging, biomarker, measurement techniques, statistical analysis, healthy pattern.

Approach and management of stuttering La tartamudez es el trastorno del habla más frecuente en la edad pediátrica. Su etiología es multifactorial. El diagnóstico se basa en una correcta anamnesis y exploración clínica. Se describe un caso y se comentan los puntos clave de su manejo. Stuttering is the most common speech disorder in childhood. It has a multifactorial etiology. The diagnosis is based on clinical history and physical examination. A case is described and the key points of its management are discussed.

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