Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Background: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations.

Methods: We present a detailed description of 11 new TRAF7-related CAFDADD cases, featuring eight distinct variants, including a novel one.

Results: Phenotypic analysis and a comprehensive review of the 58 previously reported cases outline consistent clinical presentations, emphasizing dysmorphic features, developmental delay, endocrine manifestations, and cardiac defects.

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.

Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders.

Background And Objectives: To investigate whether children receiving immunosuppressive therapies for neuroimmunologic disorders had (1) increased susceptibility to SARS-CoV2 infection or to develop more severe forms of COVID-19; (2) increased relapses or autoimmune complications if infected; and (3) changes in health care delivery during the pandemic.

Methods: Patients with and without immunosuppressive treatment were recruited to participate in a retrospective survey evaluating the period from March 14, 2020, to March 30, 2021. Demographics, clinical features, type of immunosuppressive treatment, suspected or confirmed COVID-19 in the patients or cohabitants, and changes in care delivery were recorded.

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.

Background: Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.

Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study.

Objective: The study aimed to describe the cases of neurological disease related to the outbreak of enterovirus (EV) in three regions in Northern Spain during 2016.

Materials And Methods: Multicenter retrospective observational study. Clinical, radiological, and microbiological data were analyzed from patients younger than 15 years with confirmed EV-associated neurological disease admitted to 10 hospitals of Asturias, Cantabria, and Castile and Leon between January 1 and December 31, 2016.

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.

Parental report of quality of life in children with epilepsy: A Spanish/French comparison.

Background: Epilepsy is a chronic neurological condition that affects the quality of life (QoL) of patients and their families. In this study, we compare two sets of reports on QoL that were completed by two samples of parents whose children have epilepsy.

Method: Parents of children with various types of epilepsy from Spain (N = 196) and France (N = 219) completed the same QoL questionnaire.

Bioelectrical impedance vector values in a Spanish healthy newborn population for nutritional assessment.

Introduction: Vector bioimpedance analysis (BIVA) can be very useful for the evaluation of body composition, hydration, and nutritional status in infants and newborns. The objective of this study was to determine the impedance vector distribution for a group of healthy newborn Spanish children.

Methods: This was a cross-sectional, descriptive study conducted with 154 healthy, Spanish newborns (gestational age: 37-41 weeks) aged 24 to 72 hours (79 males, 75 females).

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in (encoding Ca2.1 channel). The underlying pathomechanisms are unknown.

[Para-infectious seizures: A retrospective multicentre study].

Introduction: Para-infectious seizures are afebrile seizures that are associated with mild infections, and occur in children with no pre-existing neurological illness. They are still little known in our environment.

Methods: A multicentre retrospective study was conducted that included patients with normal psychomotor development and had presented with one or more seizures in the context of a mild afebrile infection.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Background And Objective: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.

Background: Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and patients' self-reported description of signs and symptoms. So although it is rare in heterozygous carriers, investigations in other types of inherited X-linked disorders suggest that some clinical manifestations may be a possibility.

[Severe diseases with prenatal diagnosis].

The aim of this article is to present the published information until this moment about the survival, long term effects and quality of life of the diseases named by the Bioethics Committee of the Spanish Society of Gynaecologist and Obstetricians (SEGO) as extremely severe and untreatable diseases, subsidiary of a Voluntary Termination of Pregnancy after the 22 weeks of gestational age, according to the Organic Law 2/2010 of Sexual and Reproductive Health and Voluntary Termination of Pregnancy. Health professionals must know the medical aspects, the therapeutics advances and the outcomes of these diseases, and it is a high standard of professional ethics to transmit this information to the progenitors.

Decline and loss of birth seasonality in Spain: analysis of 33,421,731 births over 60 years.

Background And Aim: Several seasonal variations have been found in birth rates in different countries at different periods. The characteristics of the rhythmic patterns vary according to geographical location and chronological changes. This study presents data on spanish birth seasonality over six decades.