Daniel Martín Fernández-Mayoralas

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INTRODUCTION Leukoencephalopathy with vanishing white matter is an autosomal recessive hereditary disease that was first reported in 1997. Some time later the genetic anomalies responsible for the disease were identified, these being different mutations in any of the five genes that code for the five subunits of the translation initiation factor, eIF2B.(More)
INTRODUCTION Attention deficit hyperactivity disorder (ADHD) is a very heterogeneous neurobiological condition. It is the most common neurodevelopmental disorder in the childhood population. Its prevalence is estimated to be 3-6% in school-age children. AIM. To review the characteristics of patients with inattentive subtype ADHD, including those who could(More)
INTRODUCTION Methylphenidate (MTF) is effective for the treatment of attention deficit/hiperactivity disorder (ADHD). Osmotic-release MTF (MTF-O) allows a sustained effect along the day on attention and behaviour in patient with ADHD with a single dose. AIM To confirm the sustained effectiveness of the MTF-O from the clinical point of view, in the family(More)
INTRODUCTION Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. CASE(More)
INTRODUCTION AND AIMS Vascular malformations are the most frequent cause of intracranial haemorrhage (IH) after the neonatal period that are not due to traumatic injury. Arteriovenous malformations (AVM) are the vascular malformations that most often give rise to symptoms in infancy and are the most common cause of IH in children over one year of age. (More)
INTRODUCTION Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurodevelopmental disorders in the child population. Its treatment is complex and must include psychoeducational, environmental and pharmacological measures. In recent years, the main novelties as regards its pharmacological treatment have been the appearance of(More)
INTRODUCTION Neurodevelopmental disorders cover a heterogeneous group of disorders such as intellectual disability, autism spectrum disorders or specific learning difficulties, among others. The neurobiological and clinical variables seem to clearly justify the recent inclusion of attention deficit hyperactivity disorder (ADHD) as a neurodevelopmental(More)
INTRODUCTION The development of structural magnetic resonance scanning and new methods of analysis has made it possible to explore, in a hitherto unknown way, the neuroanatomical bases of attention deficit hyperactivity disorder (ADHD). Yet, little is known about the relation between the clinical symptoms and the neuropsychological dysfunctions(More)
Attention deficit hyperactivity disorder (ADHD) is a heterogeneous, symptomatically complex disorder. Its cardinal symptom, the presence of dysexecutive problems, emotional dysregulation of many of them and its own comorbidity, among others, will condition its clinical expression and the dysfunction. Classifying ADHD as a 'disorder' calls for an accurate(More)
The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray(More)