ABSTRACT Somatic symptom disorder (SSD) is increasingly prevalent in youth and is associated with impaired later health and social functioning. SSD in youth is linked to emotional awareness and mentalising deficits; however, these factors, together with parental mentalising, have rarely been examined together. This cross‐sectional case–control study aims to investigate these key factors in early adolescents with SSD and their mothers, compared with a community sample. The sample included 360 participants: a clinical group (n = 112) of 56 adolescents with SSD (Mage = 12.98, SD = 1.72) and their mothers, recruited from two paediatric hospitals; and a comparison group (n = 248) of 124 adolescents (Mage = 13.04, SD = 1.21) and their mothers from the general population. The adolescents completed the Emotional Awareness Questionnaire (EAQ) and the Reflective Functioning Questionnaire for Youth (RFQ‐Y), and their mothers completed the Parental Reflective Functioning Questionnaire for Adolescents (PRFQ‐A). A logistic regression predicting clinical (vs. comparison) group membership (R 2 = 0.24; p < 0.001) revealed that greater adolescent verbal emotion sharing (OR = 0.41, p = 0.015), higher RFQ‐Y curiosity (OR = 0.45, p = 0.014) and higher RFQ‐Y certainty (OR = 0.53, p = 0.011) were associated with reduced odds of belonging to the clinical group. Additionally, higher maternal PRFQ certainty was linked to lower odds of clinical group membership (OR = 0.56, p = 0.003). These findings inform interventions to enhance mentalising and emotional awareness in adolescents with SSD and their mothers, particularly deficits concerning others' mental and affective states.
L. Buratta, Gaetano Maria Sciabica, Rosanna Martin et al.· Clinical Psychology and Psyc...· 0 citations
CONTEXT
Neuroradiological findings in Noonan syndrome (NS) remain insufficiently characterized.
OBJECTIVE
To characterize neuroimaging abnormalities in children with genetically confirmed NS and evaluate their associations with clinical phenotype.
DESIGN, SETTING, AND PARTICIPANTS
In this multicenter retrospective study, brain MRI scans and longitudinal clinical and genetic data were reviewed from children with genetically confirmed NS evaluated between 2008 and 2023 at seven pediatric endocrinology centers.
MAIN OUTCOME MEASURES
Prevalence and spectrum of neuroimaging abnormalities and their associations with genotype and clinical features.
RESULTS
The cohort included 130 individuals with NS (71 males; mean age at MRI, 9.7 years), most carrying PTPN11 variants (69.2%). Structural brain abnormalities were identified in 84.7% and included midbrain-hindbrain malformations (69.2%), callosal anomalies (52.3%), cortical malformations (50%), white matter abnormalities (48.4%), and cranio-cervical junction anomalies (40%). Brain tumors and Chiari I malformation were present in 12.3% and 10.7%, respectively. Seizures were associated with cortical tumors (p = 0.02) and callosal anomalies (p = 0.03), whereas developmental delay was associated with callosal anomalies (p = 0.02) and microcephaly (p < 0.01). Follow-up MRI, available in 41 patients over a mean duration of 6.3 years, showed interval changes in 48.7%, including tumor progression, progressive tonsillar descent, odontoid retroversion, and newly detected lesions.
CONCLUSIONS
In this selected cohort of children with NS who underwent brain MRI as part of routine clinical care, structural brain abnormalities were frequent and were associated with neurological manifestations. These findings support a role for RAS/MAPK pathway dysregulation in brain development and highlight the clinical value of MRI in selected patients with NS.
G. Patti, Nadia Gabriella Maiorano, F. Piccoli et al.· Journal of Clinical Endocrin...· 0 citations
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