Rasopathies, including Noonan Syndrome (NS) and Neurofibromatosis type 1 (NF1), are developmental disorders caused by germline mutations in genes of the RAS/mitogen-activated protein kinase pathway (RAS-MAPK). This study investigates irritability, a highly prevalent transdiagnostic construct, in children with Rasopathies and the impact of Rasopathy status on the associations between irritability, emotional dysregulation-related disorders, and social skills impairments. The sample comprise 174 children aged 4-17 (age mean = 9.
View Article and Find Full Text PDFBiol Psychiatry Cogn Neurosci Neuroimaging
September 2024
Background: RASopathies are a group of disorders characterized by pathogenic mutations in the Ras/mitogen-activated protein kinase (Ras/MAPK) signaling pathway. Distinct pathogenic variants in genes encoding proteins in the Ras/MAPK pathway cause Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), which are associated with increased risk for autism spectrum disorder and attention-deficit/hyperactivity disorder.
Methods: This study examined the effect of RASopathies (NS and NF1) on human neuroanatomy, specifically on surface area (SA), cortical thickness (CT), and subcortical volumes.
Purpose: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS).
View Article and Find Full Text PDFBackground: COVID-19 is an ongoing global crisis, with a multitude of factors that affect mental health worldwide. We explored potential predictors for the emergence and maintenance of depression, anxiety, and posttraumatic stress symptoms (PTSS) in the general population in Israel.
Methods: Across the span of 16 months, 2478 people completed a repeated self-report survey which inquired psychiatric symptoms and pandemic related stress factors (PRSF).
Background: During the COVID-19 pandemic in Israel, the number of patients with eating disorders (EDs) seeking treatment increased significantly. The present study sought to evaluate whether, during the pandemic (2020-21), patients with anorexia nervosa (AN) would show more ED-related, comorbid, and COVID-19-related symptoms in comparison to a naturalistic control group, and whether differences would be found between adult and adolescent patients with AN. We also examined attitudes to telemedicine use during the pandemic in patients receiving long-distance interventions.
View Article and Find Full Text PDFThis study examined the associations of parents' expressed emotion (EE) and parenting stress, with behavioral problems of children with 22q11.2 deletion syndrome, idiopathic autism (iASD) and typically developing (TD) children. Parents of children aged 3-8 years completed the five-minute-speech-sample (FMSS), parental stress index and children behavioral checklist.
View Article and Find Full Text PDFUnlabelled: 22q11.2 deletion syndrome (22q11.2DS) is characterised by high rates of psychotic disorders and immune abnormalities.
View Article and Find Full Text PDFBackground: Eating disorders (EDs) are among the most difficult psychiatric disorders to treat in normal conditions. They are likely even more difficult to manage in at-risk conditions such as the COVID-19 pandemic. Currently there is limited evidence about the particular needs and recommended treatment of adolescents with EDs during the COVID-19 outbreak, in particular regarding the use of telemedicine and the involvement of the family in long distance-treatment.
View Article and Find Full Text PDFAvoidant/restrictive food intake disorder (ARFID) is a relatively new diagnostic category. We sought to determine whether the Stanford Feeding Questionnaire (SFQ), an instrument for assessing picky eating, can differentiate children with ARFID from control children, and whether children with ARFID would show more nonfeeding/eating emotional problems than controls. Fifty children with ARFID were compared to 98 controls.
View Article and Find Full Text PDFBackground: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD.
View Article and Find Full Text PDF22q11.2 deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2000-4000 live births, with increasing numbers of individuals with the microdeletion living into adulthood.
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