Neurodevelopmental disorders

The Neurodevelopmental disorders research group focuses on the problems experienced by children and adults who have intellectual disabilities, borderline intellectual disorders, autism spectrum disorders and genetic syndromes related to development.

The multidisciplinary team composed of psychiatrists, psychologists, nurses, social workers, and graduate students, conducts high-quality research on mental, cognitive, and behavioural disorders in children and adults with neurological development disorders. We transfer the results of the research to both evaluational and interventional clinical practice. This allows us to offer information, advice and support to parents, caregivers, and professionals.

Main lines of research

Aging, mild cognitive deterioration, and dementia in people with intellectual disability.
Genetics in mental illness and challenging behaviour in people with intellectual disability
Behavioural and neuropsychological phenotypes of genetic origin
Autism and neuropsychology
Comprehensive attention to people with Borderline Intellectual Disorders

Strategic objectives

To be a reference group in research and teaching in neurodevelopmental disorders (NDD) (IDD, BID, ASD, among others).

Consolidating clinical research into Neurodegenerative Disorders in people with NDDs

Consolidating genetic and clinical research into Cognitive-Behavioural Phenotypes

To be a reference group in developing evaluation tests and cognitive intervention in NDDs

To be a reference group in the comprehensive (bio-psycho-social) care model for people with NDDs

Establishing research collaborations with national and international groups in the field of NDDs

Publications

Neurodevelopmental disorders

Mauri S, Nieto-Moragas J, Obón M, Oriola J

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Jcem Case Reports, 2024, 2, 153-153 dx.doi.org/10.1210/jcemcr/luad153

Neurodevelopmental disorders , Metabolic and Maternal-fetal

Martínez-Diago, C, Mademont-Soler, I, Bonmati, A, Rodo, C, Alberch, A, Obon, M, Fuertes, B, Maroto, A

Novel variant in <i>ACTA1</i> identified in a fetus with akinesia deformation sequence and cortical development delay

PRENATAL DIAGNOSIS, 2024, 44, 996-998 dx.doi.org/10.1002/pd.6568

Neurodevelopmental disorders , Neurodegeneration and Neuroinflammation , Cardiovascular Genetics

Mademont-Soler I, Esteba-Castillo S, Jiménez-Xifra A, Alemany B, Ribas-Vidal N, Cutillas M, Coll M, Pinsach ML, Pagans S, Alcalde M, Viñas-Jornet M, Montero-Vale M, de Castro-Miró M, Rodríguez J, Armengol L, Queralt X, Obón M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Molecular genetics & genomic medicine, 2024, 12, 2475-2475 dx.doi.org/10.1002/mgg3.2475

Neurodevelopmental disorders

Saiz-Sierra L, Marull Arnall A, Nieto-Moragas J, Deulofeu M, Jiménez Romero O, Mademont I, Obón Ferrer M, Serrando Querol MT

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO, 2024, 5, 221-225 dx.doi.org/10.1515/almed-2023-0136

Neurodevelopmental disorders

Saiz-Sierra L, Marull Arnall A, Nieto-Moragas J, Deulofeu M, Jiménez Romero O, Mademont I, Obón Ferrer M, Serrando Querol MT

Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso.

ADVANCES IN LABORATORY MEDICINE-AVANCES EN MEDICINA DE LABORATORIO, 2024, 5, 226-230 dx.doi.org/10.1515/almed-2024-0016

Neurodevelopmental disorders , Neurodegeneration and Neuroinflammation

Mademont-Soler, I, Esteba-Castillo, S, Nieto-Moragas, J, Alemany, B, Rodríguez, J, de Castro-Miró, M, Montero-Vale, MM, Cherino, A, Cutillas, M, Armengol, L, Queralt, X, Obón, M

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32, 210-211

Neurodevelopmental disorders

Turón-Viñas E, Boronat S, Gich I, González Álvarez V, García-Puig M, Camós Carreras M, Rodriguez-Palmero A, Felipe-Rucián A, Aznar-Laín G, Jiménez-Fàbrega X, Pérez de la Ossa N

Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE.

Stroke, 2024, 55, 2240-2246 dx.doi.org/10.1161/STROKEAHA.124.046846

Precision Oncology in Girona , Neurodevelopmental disorders , Research in Vascular Health

Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M

ZDHHC15 as a candidate gene for autism spectrum disorder.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191, 941-947 dx.doi.org/10.1002/ajmg.a.63099

Neurodevelopmental disorders

Gámez S, Cobo J, Fernández-Lafitte M, Coronas R, Parra I, Oliva JC, Àlvarez A, Esteba-Castillo S, Giménez-Palop O, Corripio R, Palao DJ, Caixàs A

An Exploratory Analysis on the 2D:4D Digit Ratio and Its Relationship with Social Responsiveness in Adults with Prader-Willi Syndrome

Journal of Clinical Medicine, 2023, 12 dx.doi.org/10.3390/jcm12031155

Neurodevelopmental disorders

Rodríguez-Hidalgo E, García-Alba J, Novell R, Esteba-Castillo S

The Global Deterioration Scale for Down Syndrome Population (GDS-DS): A Rating Scale to Assess the Progression of Alzheimer's Disease.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2023, 20 dx.doi.org/10.3390/ijerph20065096

12 3 4 5 6 7

Competitive projects

Neurodevelopmental disorders

EQUAL TREATMENT: Supporting rights and access of people with intellectual disabilities to secondary and tertiary healthcare services

Codi oficial: 101049115 Start date:01/03/2022 Data fi: 30/11/2024 Investigador/a principal: RAMON NOVELL ALSINA, SUSANNA ESTEBA CASTILLO, LAURA VERGES PLANAGUMA Organisme finançador: EUROPEAN COMISSION

Neurodevelopmental disorders

FACIL'IAS: Millora de l'Accés i la Qualitat dels Serveis Sanitaris per a Persones amb Discapacitat Intel·lectual i malaltia menta/trastorn de conducta afegit: Implementació d’ Intervencions Innovadores.

Codi oficial: 2024_NDC_SCPiSM Start date:24/05/2024 Data fi: 23/05/2026 Investigador/a principal: NATALIA DIAZ CALLEJA Organisme finançador: FUNDACIÓ ACADÈMIA CIÈNCIES MÈDIQUES

Job offers

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Novel variant in <i>ACTA1</i> identified in a fetus with akinesia deformation sequence and cortical development delay

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE.

ZDHHC15 as a candidate gene for autism spectrum disorder.

An Exploratory Analysis on the 2D:4D Digit Ratio and Its Relationship with Social Responsiveness in Adults with Prader-Willi Syndrome

The Global Deterioration Scale for Down Syndrome Population (GDS-DS): A Rating Scale to Assess the Progression of Alzheimer's Disease.

Team

Group leader - R4

Established researchers - R3

Postdoctorals researchers – R2

Predoctorals researchers – R1

Research technicians

About IDIBGI!