Blanca García-Delgar
A5031029871- Obsessive-Compulsive Spectrum Disorders
- Autism Spectrum Disorder Research
- Eating Disorders and Behaviors
- Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Williams Syndrome Research
- Child and Adolescent Psychosocial and Emotional Development
- Child Nutrition and Feeding Issues
- Body Image and Dysmorphia Studies
- Genetics and Neurodevelopmental Disorders
- Attention Deficit Hyperactivity Disorder
- Autoimmune Neurological Disorders and Treatments
- Ion channel regulation and function
- Plant Reproductive Biology
- Ovarian function and disorders
- Bipolar Disorder and Treatment
- Chromosomal and Genetic Variations
- Peripheral Neuropathies and Disorders
- Gender Roles and Identity Studies
- Insect symbiosis and bacterial influences
- Developmental and Educational Neuropsychology
- Family and Disability Support Research
- Trace Elements in Health
- Psychological Treatments and Disorders
- Suicide and Self-Harm Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Hospital Clínic de Barcelona
2017-2025
Fundació Clínic per a la Recerca Biomèdica
2025
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2025
Centro de Investigación Biomédica en Red de Salud Mental
2024
Hospital Universitari de Vic
2016-2023
Neurosciences Institute
2018-2021
Icahn School of Medicine at Mount Sinai
2016
Highlights•Recurrent de novo variants identify a new high-confidence TD risk gene: CELSR3•Genes involved in cell polarity are more likely to be disrupted by variants•De sequence may carry simplex families, female probands•De CNVs occur 2 3 times often probands than matched controlsSummaryWe previously established the contribution of damaging Tourette disorder (TD) through whole-exome sequencing 511 trios. Here, we an additional 291 trios and analyze combined set 802 We observe...
Abstract Premonitory urges are uncomfortable physical sensations preceding tics that occur in most individuals with a chronic tic disorder. The Urge for Tics Scale (PUTS) is the frequently used self-report measure to assess severity of premonitory urges. We aimed evaluate psychometric properties PUTS largest sample size date ( n = 656), children aged 3–16 years, from baseline measurement longitudinal European Multicenter Children Study (EMTICS). Our evaluation was done three age-groups: 3–7...
Abstract Autism spectrum disorder (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity (ADHD) display strong male sex bias, due to a combination of genetic biological factors, as well selective ascertainment. While the hemizygous nature chromosome X (Chr X) in males has long been postulated key point “male vulnerability”, rare variation on this not systematically characterized large-scale whole exome sequencing studies “idiopathic” ASD, TS, ADHD. Here, we take advantage...
Repetitive and restrictive behaviors (RRB) include simple motor stereotypes, tics complex ritualized rigid that are core symptoms in neurodevelopmental disorders such as obsessive–compulsive disorder (OCD), Tourette syndrome (TS) or autism spectrum (ASD). Sensory phenomena (SP) uncomfortable feelings, including bodily sensations, sense of inner tension, "just-right" perceptions, feelings incompleteness, "urge-only" phenomena, which have been described to precede, trigger, accompany RRB. In...
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene genome-wide association (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) both parents 412 families (some were siblings). assessed 75 single nucleotide polymorphisms (SNPs) parent-child trios; 117 additional SNPs 211 4 254 trios. performed SNP gene-based transmission disequilibrium tests compared nominally...
Abstract This study investigated whether vitamin D is associated with the presence or severity of chronic tic disorders and their psychiatric comorbidities. cross-sectional compared serum 25-hydroxyvitamin [25(OH)D] (ng/ml) levels among three groups: children adolescents (3–16 years) CTD ( n = 327); first-degree relatives (3–10 individuals who were assessed for a period up to 7 years possible onset tics developed within this 31); did not develop ≥ 10 old at last assessment 93). The...
There is clear evidence that tic disorders (TDs) are associated with psychosocial stress as well emotional and behavioral problems. Studies have shown individuals TDs higher acute physiological responses to external, single stressors (as reflected by saliva cortisol). The aim of the present study was examine a marker longer-term hair cortisol concentration) in children adolescents unaffected siblings TDs.Two samples European cohort were included this study. In COURSE sample, 412 aged 3-16...
Theory of mind (ToM) is the human ability to perceive, interpret, and attribute mental states other people, alteration this cognitive function a core symptom autistic spectrum disorder (ASD). In such neurodevelopmental disorders as childhood-onset obsessive-compulsive (OCD) Tourette syndrome (TS) that can present with dysfunctions, ToM has been less extensively studied, especially in young population. The aim study was compare advanced between groups people diagnosed OCD, TS, or ASD control...
Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role behavioural therapy. However, instruments for assessing sensations remain scarce. Among available instruments, Premonitory Urge Tics Scale (PUTS) is most widely used. We examined psychometric properties and factor structure of Spanish-language version PUTS a sample 72 children adolescents Tourette...
Activation is a behavioral adverse event related to the use of psychotropic medication. Its high incidence in pediatrics and childhood-onset neuropsychiatric disorders suggests it may be linked neurodevelopment. However, previous studies have scarcely examined role that factors relevant developmental pharmacokinetics, such as body weight, play onset activation children adolescents.We conducted retrospective analysis hospitalized patients identify risk for adolescents treated with selective...
Abstract Pediatric obsessive-compulsive disorder (OCD) clusters around three major symptom dimensions: contamination/cleaning, symmetry/ordering, and disturbing thoughts/checking. The Obsessive-Compulsive Inventory-Child Version (OCI-CV) is a self-report questionnaire that provides scores along six theory-based OCD dimensions, but no study has evaluated how well OCI-CV identifies clinically significant symptoms within each of the dimensions OCD. We examined this question using data from 197...