Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.

Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile of 37 PMM2-CDG patients, examining its association with parental stress and medical characteristics.

Quality of life and psychiatric comorbidities in pediatric patients with Gilles de la Tourette syndrome.

Introduction: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities.

Aim: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire CandA-GTS-QoL to measure quality of life in this population.

Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection.

Background: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies.

Aim: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits.

Visuospatial functions in preterm schoolchildren without cognitive delay: Using Pascual's Graphomotor test as a screening method.

Background: Preterm children obtain worse scores in tests that evaluate visuospatial functions. Pascual's graphomotor test (PGMt) assesses maturity in copying drawings in childhood, quickly evaluating the graphomotor aptitude that is a partial aspect of non-verbal intelligence.

Aims: To evaluate visuospatial functions in preterm children compared to full-term children.

COVID-19 in children with neuromuscular disorders.

Objective: Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no evidence that complications or mortality rates in neuromuscular patients are higher than in the general population. The aim of this study is to describe the clinical characteristics and outcome of COVID-19 in children with neuromuscular disorders.

Neurologic Complications in Children Hospitalized With Influenza Infections: Prevalence, Risk Factors and Impact on Disease Severity.

Background: Influenza infection is a common cause of respiratory disease and hospitalization in children. Neurologic manifestations of the infection have been increasingly reported and may have an impact on the severity of the disease. The aim of this study is to describe neurologic events in pediatric patients hospitalized with influenza and identify associated risk factors.

Association between neuroimaging findings and neurological sequelae in patients with congenital cytomegalovirus infection.

Background: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies.

Aim: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits.

[Continuous spike-waves during slow-wave sleep: Experience during 20 years].

Introduction: Continuous spikes and waves during slow sleep (CSWS) is an EEG pattern that appears during childhood, and is often associated with cognitive impairment. It can appear in the course of epileptic syndromes, as well as in benign epilepsy. The aim of this study is to analyse epidemiological and clinical characteristic of patients with CSWS, in order to describe possible predictive factors in their outcome.

Molecular characterization of congenital myasthenic syndromes in Spain.

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain.

Outcome of arterial ischemic stroke in children with heart disease.

Unlabelled: Arterial ischemic strokes (AIS) are rare in childhood. Congenital and acquired heart diseases are one of the most important risk factors of AIS in children.

Objective: Study the outcome of children with heart disease that have suffered AIS and the factors that influence on prognosis.

Ischaemic stroke in children with cardiopathy: An epidemiological study.

Introduction: Ischaemic stroke is rare during childhood. Congenital and acquired heart diseases are one of the most important risk factors for arterial ischaemic stroke (AIS) in children.

Patients And Methods: We conducted a retrospective study of all children with AIS and heart disease diagnosed between 2000 and 2014.

Neurological complications after gamma-knife radiosurgery for hypothalamic hamartoma.

Background: The Gamma-knife technique is a safe and effective option for the treatment of hypothalamic hamartomas that produce epileptic seizures refractory to medical treatment and/or serious behavioral disorders. After this type of radiosurgery, an adequate symptomatic control is normally achieved, with notable decrease or even disappearance of the seizures. Radiological changes, such as a decrease in the size of the tumor or adjacent edema secondary to non-necrotizing radioinduced inflammatory reaction are unusual consequences.

Pharmacological interaction between valproic acid and carbapenem: what about levels in pediatrics?

Unlabelled: Valproic acid (VPA) is the most commonly used antiepileptic drug in pediatric patients, but its major drawback is its multiple pharmacological interactions.

Objective: To study children who had been simultaneously treated with carbapenems and valproic acid, considering drug levels, pharmacological interactions and clinical follow-up.

Material And Methods: Retrospective study of children who simultaneously received treatment with VPA and carbapenems between January 2003 and December 2011.

[Visuospatial functions and prematurity].

Visuospatial functions are very important in learning process and development of abstract thought during childhood. Several studies show that preterm and low birth weight infants obtain lower scores in test that assess cognitive functions, specially in the first year of life. These differences are attenuated over time, but a developmental delay that affects working memory and visuospatial process still persists.

Phenotypic variability in a four generation family with a p.Thr666Met CACNA1A gene mutation.

Background: Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene. Phenotypic variability and clinical overlap are recognized.

Patients: We describe a 2-year-old child with transiently decreased consciousness and clinical and radiological signs of early-onset cerebellar atrophy.

Acute hemicerebellitis in children: case report and review of literature.

Acute hemicerebellitis in childhood is an extremely rare unilateral presentation of cerebellitis mimicking a tumour. Its aetiology is unknown, although an inflammatory or postinfectious origin is presumed. Its clinical outcome is generally good and a self-limited evolution, in the absence of specific treatment, is usually expected.

[Early stimulation in newborns with birth weight between 1,000 and 1,500 g: is it always necessary?].

Objective: To determine whether the currently widespread practice of sending all premature infants with birth weight between 1,000 and 1,500 g to early care centres is necessary from a neurological point of view, or if it is possible to establish selection criteria.

Material And Methods: A retrospective study of newborns (NB) at our hospital between January 1998 and December 2004 with birth weight between 1,000 and 1,500 g, and followed up for at least two years in a paediatric neurology clinic. We analysed the prognostic significance of the different neurological variables in the neonatal period, and those of greater significance were set at a score for deciding the start of early stimulation treatment on discharge from neonatology.