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.

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.

[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.

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.

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.