Psychopathological phenomena are highly prevalent in patients with Mendelian disorders. In these genetic neurodevelopmental disorders (GNDDs), particularly cognitive and neuropsychiatric symptoms from the autism, attention-deficit/hyperactivity, and mood/anxiety spectra are present, but psychotic symptoms may also manifest. Together with frequently occurring intellectual disabilities of varying levels and with overlapping behavioral problems, the diagnosis and treatment of patients with this multicomplex configuration is one of the most challenging responsibilities for clinicians with a major impact on both patients as well as their family members and caregivers. Over the last decade, there is a growing interest in the fundamental mechanisms that lead to specific GNDDs. Somatic, neurological, and behavioral manifestations in specific GNDDs are studied together, which contributes to etiology-specific bio-genetic and/or pharmacological treatment strategies. Furthermore, both in scientific and clinical fields, increasing evidence is found for the importance of detailed individual assessments of psychopathology and cognitive, emotional, and behavioral functioning of persons with GNDDs. Unfortunately, there is a lack of studies focusing on the effect of interventions in persons with GNDDs e.g., pharmacological, nutritional, psychological, physiological, and/or physical interventions.
Scientific research into GNNDs is preferably conducted within a broader context of multidisciplinary research into the underlying mechanisms that contribute to understanding the disturbed brain development in genetic syndromes. Relating to both animal models and human subjects, this may include a combination of biological, physiological, neurological, and neuropsychological perspectives using various techniques including in vitro research with neurons, neurocognitive assessments, EEG/ERP, and neuroimaging. Especially in GNND research, the overlap of disciplines – each using its focus to capture the most accurate representation of the genetic syndrome – provides the best possible representation of reality. An integrative framework that can host such a collaborative multiple exemplar approach and nourish clinical application may be the National Institute of Mental Health Research Domain Criteria (RDoC) model in which findings from various information levels (from genome to behavior) can be integrated to understand the aforementioned GNDD related disorders and, henceforth, the treatment thereof. In all, this Research Topic aims to further encourage multidisciplinary approaches within the GNND research community, with the goal to understand disturbed brain development in genetic syndromes in terms of fundamental mechanisms and their sequels for the diagnosis and treatment of patients with these challenging disorders and to address the paucity of studies on possible therapeutic interventions in persons with GNDDs.
Various types of contributions are welcomed, e.g., original research papers and reviews/systematic reviews, as well as perspectives, case or data reports, hypothesis and theory, general commentary, or opinion articles. Studies addressing the following themes are strongly encouraged:
• Studies that further clarify genotype-phenotype relations in the context of psychopathological phenomena and advance clinical diagnostic methods.
• Studies that include etiology driven individualized pharmacological, psychological, and behavioral therapies as well as dedicated clinical management programs.
• Development of methods for the structural assessment (and targeted intervention) of contextual factors in persons with GNNDs such as family members, caregivers, and peers.
• Studies in which the effect of the aforementioned individualized interventions on behavior symptoms, disease acceptance, and quality of life are explored.
• Development of clinical guidelines and research strategies on challenging behaviors, since these have the greatest impact on persons with genetic syndromes and their families and caregivers, but typically do not respond to symptomatic treatment with psychotropics.
Psychopathological phenomena are highly prevalent in patients with Mendelian disorders. In these genetic neurodevelopmental disorders (GNDDs), particularly cognitive and neuropsychiatric symptoms from the autism, attention-deficit/hyperactivity, and mood/anxiety spectra are present, but psychotic symptoms may also manifest. Together with frequently occurring intellectual disabilities of varying levels and with overlapping behavioral problems, the diagnosis and treatment of patients with this multicomplex configuration is one of the most challenging responsibilities for clinicians with a major impact on both patients as well as their family members and caregivers. Over the last decade, there is a growing interest in the fundamental mechanisms that lead to specific GNDDs. Somatic, neurological, and behavioral manifestations in specific GNDDs are studied together, which contributes to etiology-specific bio-genetic and/or pharmacological treatment strategies. Furthermore, both in scientific and clinical fields, increasing evidence is found for the importance of detailed individual assessments of psychopathology and cognitive, emotional, and behavioral functioning of persons with GNDDs. Unfortunately, there is a lack of studies focusing on the effect of interventions in persons with GNDDs e.g., pharmacological, nutritional, psychological, physiological, and/or physical interventions.
Scientific research into GNNDs is preferably conducted within a broader context of multidisciplinary research into the underlying mechanisms that contribute to understanding the disturbed brain development in genetic syndromes. Relating to both animal models and human subjects, this may include a combination of biological, physiological, neurological, and neuropsychological perspectives using various techniques including in vitro research with neurons, neurocognitive assessments, EEG/ERP, and neuroimaging. Especially in GNND research, the overlap of disciplines – each using its focus to capture the most accurate representation of the genetic syndrome – provides the best possible representation of reality. An integrative framework that can host such a collaborative multiple exemplar approach and nourish clinical application may be the National Institute of Mental Health Research Domain Criteria (RDoC) model in which findings from various information levels (from genome to behavior) can be integrated to understand the aforementioned GNDD related disorders and, henceforth, the treatment thereof. In all, this Research Topic aims to further encourage multidisciplinary approaches within the GNND research community, with the goal to understand disturbed brain development in genetic syndromes in terms of fundamental mechanisms and their sequels for the diagnosis and treatment of patients with these challenging disorders and to address the paucity of studies on possible therapeutic interventions in persons with GNDDs.
Various types of contributions are welcomed, e.g., original research papers and reviews/systematic reviews, as well as perspectives, case or data reports, hypothesis and theory, general commentary, or opinion articles. Studies addressing the following themes are strongly encouraged:
• Studies that further clarify genotype-phenotype relations in the context of psychopathological phenomena and advance clinical diagnostic methods.
• Studies that include etiology driven individualized pharmacological, psychological, and behavioral therapies as well as dedicated clinical management programs.
• Development of methods for the structural assessment (and targeted intervention) of contextual factors in persons with GNNDs such as family members, caregivers, and peers.
• Studies in which the effect of the aforementioned individualized interventions on behavior symptoms, disease acceptance, and quality of life are explored.
• Development of clinical guidelines and research strategies on challenging behaviors, since these have the greatest impact on persons with genetic syndromes and their families and caregivers, but typically do not respond to symptomatic treatment with psychotropics.
