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RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed.

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.

Preschoolers commonly experience symptoms of ADHD and disruptive behavior problems. Behavioral parent management training (PMT) is an evidence-based intervention for addressing both ADHD and disruptive behaviors in this population; however, many PMT programs are burdensome in length and have limited data regarding long-term effectiveness for ADHD specific outcomes. This study examined outcomes up to 1 year following completion of a brief behavioral intervention (M = 6.51 sessions) for preschoolers. Participants were children aged 2–6 years with clinically significant disruptive behaviors and their parents. Results demonstrated significant improvements in parent-reported child hyperactivity and inattention from pre-to-post intervention, with sustained improvement at 6 months and 1 year post intervention. Teacher-reported hyperactivity and inattention also showed significant improvements from pre-to-post intervention, which were maintained across time points. These results were also found among a subset of participants with clinically significant ADHD symptoms at baseline. This study highlights the long-term effectiveness of a brief PMT program to address symptoms of ADHD and disruptive behaviors in preschoolers. Findings support the recommendation to offer PMT as a first-line intervention for preschoolers with ADHD symptoms to reduce the need for early intervention with stimulant medication and address comorbid disruptive behaviors. [ABSTRACT FROM AUTHOR]

An estimated 1.8% of U.S. adolescents identify as transgender, and when using expansive language to include diverse identities along the gender continuum (e.g., nonbinary, gender fluid), rates may be notably higher. Gender-diverse youth (GDY) experience significantly elevated rates of depression, anxiety, suicidality, and eating disorders relative to the general population. Youth with autism spectrum disorders also appear to report diverse gender identities at higher rates than neurotypical youth. Gender-minoritized stress, including distal (e.g., transgender related stigma and discrimination) and proximal (e.g., social or familial rejection due to gender-diverse identity) stressors, increase risk for mental health disorders among GDY, and gender affirmation mitigates risk. Gender-affirming medical and behavioral health care is associated with enhanced resilience and positive mental health outcomes for GDY. [ABSTRACT FROM AUTHOR]

Objectives: Research and clinical expertise have emphasized the mental health needs of parents and caregivers of medically complex children. Evidence-based interventions are available for adult mental health, including those designed specifically for caregivers caring for children with a variety of health-care needs. This paper describes practical and legal considerations of 3 possible pathways for psychologists to address the needs of caregivers within pediatric hospital settings. Methods: Literature regarding the mental health needs of caregivers of children with medical conditions, evidence-based interventions, and pediatric subspecialty psychosocial guidelines was reviewed. Relevant legal and ethical obligations for psychologists were also summarized. Results: The mental health needs of caregivers of medically complex children are often high, yet programmatic, institutional, legal, and ethical barriers can limit access to appropriate care. Significance of the results: Integration of screening and treatment of caregivers' mental health within the pediatric hospital setting is one pathway to addressing caregivers' needs. The development of programs for caregiver mental health screening and treatment within pediatric hospital settings will enhance the well-being of children and families and reduce legal and ethical risks for pediatric psychologists. Consultation with institutional compliance, legal/risk, and medical records departments and the creation of electronic medical records for the caregiver may be useful and practical opportunities for integration. [ABSTRACT FROM AUTHOR]