Response to Melatonin Treatment in Children With Autism spectrum Disorder and Relationship to Sleep Parameters and Melatonin Levels.

Melatonin is one of the most used pharmacologic treatments for sleep problems in autism spectrum disorder, though its relationship with circadian and sleep parameters is still not well stablished. A naturalistic study was conducted in children with autism spectrum disorder, previously drug-naïve, before and after treatment with immediate-release melatonin. Circadian rhythms and sleep parameters were studied using an ambulatory circadian-monitoring device, and saliva samples were collected enabling determination of dim light melatonin onset.

Sleep Problems, Circadian Rhythms, and Their Relation to Behavioral Difficulties in Children and Adolescents with Autism Spectrum Disorder.

This was an exploratory cross-sectional study comparing 45 children with ASD to 24 typically developing drug-naïve controls, group-matched on age, sex, and body mass index. Objective data was obtained using the following: an ambulatory circadian monitoring device; saliva samples to determine dim light melatonin onset (DLMO): and three parent-completed measures: the Child Behavior Checklist (CBCL); the Repetitive Behavior Scale-Revised (RBS-R); and the General Health Questionnaire (GHQ28). The CBCL and RBS-R scales showed the highest scores amongst poor sleepers with ASD.

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Background: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving cause KBG syndrome, but no genotype-phenotype correlation has been reported.

Methods: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire.

[Oral desensitization with Ketocal® in an infant with ketogenic diet and cow's milk protein allergy].

Introduction: ketogenic diet is a treatment with proven efficacy in drug-refractory childhood epilepsy. Cow's milk protein allergy may be a limitation for treating infants with ketogenic diet, as they need a product that contains cow's milk protein (Ketocal®). Case report: we report the case of an infant with a drug-refractory epileptic encephalopathy and IgE-mediated cow's milk protein allergy, who started a classic ketogenic diet.

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.

Haploinsufficiency of has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disability, autistic features, and microcephaly, also known as AUTS2 syndrome. While the phenotype associated with large deletions and duplications of is well established, clinical features of patients harboring sequence variants have not been extensively described. In this study, we describe the phenotype of five new patients with pathogenic variants, three of them harboring loss-of-function sequence variants.

Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges.

[Do children with attention deficit and hyperactivity disorder (ADHD) have a diferent gait pattern? Relationship between idiopathic toe-walking and ADHD].

Introduction: Idiopathic toe-walking (ITW) is described as a gait pattern with no contact between the heels and the ground in children older than 3years. The diagnosis is clinical, making it necessary to rule out other neurological and orthopaedic conditions. A relationship between ITW and vestibular dysfunction and/or proprioceptive sensibility has been proposed.

[The importance of sleep problems in children with headache and other neurodevelopmental disorders in neuropaediatric services].

Introduction: Sleep disorders are common in children with neurological disorders. The aim of this study is to know the opinion of neuropediatricians and the prevalence of these disturbances in Spain.

Patients And Methods: Multicenter cross-sectional study (12 Spanish hospitals, 15 researchers).

Vanishing white matter disease in a spanish population.

Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor (eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children.

[Benign childhood epilepsies: academic difficulties and behavioural disorders].

Introduction: Some papers published in the literature have shown that patients can present behavioural disorders and learning difficulties in benign childhood epilepsies (BCE).

Aims: To review the patients diagnosed with BCE in our hospital and to determine whether they present such disorders.

Patients And Methods: The study consisted in a retrospective review of the medical records of patients diagnosed with BCE.

[Characteristics and evolution of patients with Alice in Wonderland syndrome].

Introduction: Alice in Wonderland syndrome is a process characterized for complex disorders of the visual perception with multiple etiologies.

Aim: To evaluate the clinical, electrophysiological, etiological characteristics and natural evolution in children with Alice in Wonderland syndrome.

Patients And Methods: We have realized a retrospective study by what means of a review of 20 clinical histories of 18 year old minor patients diagnosed of Alice in Wonderland syndrome from January 1995 until February 2010.

Procalcitonin, a high acute phase reactant in antiepileptic hypersentivity syndrome in pediatric age.

Antiepileptic hypersensitivity syndrome (AHS) is a potentially life-threatening syndrome in pediatric cases. It is associated with aromatic anticonvulsivant drugs and others antibiotics with or without associated reactivation of virus. The pathogenesis of the process is not clear.