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Idiopathic central precocious puberty (iCPP) is the most common cause of precocious puberty in girls. However, research on the psychological outcomes of iCPP girls is limited. To evaluated the psychological characteristics in iCPP girls in comparison to prepubertal girls throughout the first diagnosis and six-month follow-up period. Eighty-five girls, age 6–8 years, and their caregivers were enrolled to the prospective cohort study. Three Thai-standardized questionnaires were used as psychological assessment tools, including Children's Depression Inventory (CDI), Parent Screen for Child Anxiety Related Disorders (SCARED) and Parent-Strengths and Difficulties Questionnaire (SDQ). Forty-six iCPP and 39 prepuberty girls were enrolled at baseline. No significant differences in psychological and behavioral problems between iCPP and prepuberty girls. However, the iCPP group exhibited a significantly higher proportion of "risk and problem" for emotional problems compares to the prepuberty group (7 vs. 0, p=0.01) while the prepuberty group exhibits the significantly proportion of "risk" for peer problems (6 vs. 0, p=0.007). At baseline, twelve percent of iCPP girls exhibited depression and mean CDI score was 8.1 ± 7.2 and 3.7 ± 2.3 (p=0.007) in iCPP and prepuberty group, respectively. At the 6-month follow-up, there was no significant difference in psychological outcomes between two groups. There were no significant differences in psychological and behavioral problems in iCPP girls compared to prepubertal girls. However, the higher prevalence of emotional problems and depression observed in iCPP girls constitutes significant psychological issues that necessitate close monitoring. [ABSTRACT FROM AUTHOR]

Protein phosphatase 2 regulatory subunit B56δ related neurodevelopmental disorder (PPP2R5D‐related NDD) is largely caused by de novo heterozygous missense PPP2R5D variants. We report medical characteristics, longitudinal adaptive functioning, and in‐person neurological, motor, cognitive, and electroencephalogram (EEG) activity for PPP2R5D‐related NDD. Forty‐two individuals (median age 6 years, range = 0.8–25.3) with pathogenic/likely pathogenic PPP2R5D variants were assessed, and almost all variants were missense (97.6%) and de novo (85.7%). Common clinical symptoms were developmental delay, hypotonia, macrocephaly, seizures, autism, behavioral challenges, and sleep problems. The mean Gross motor functional measure‐66 was 60.2 ± 17.3% and the mean Revised upper limb module score was 25.9 ± 8.8. The Vineland‐3 adaptive behavior composite score (VABS‐3 ABC) at baseline was low (M = 61.7 ± 16.8). VABS‐3 growth scale value scores increased from baseline in all subdomains (range = 0.6–5.9) after a mean follow‐up of 1.3 ± 0.3 years. EEG beta and gamma power were negatively correlated with VABS‐3 score; p < 0.05. Individuals had a mean Quality‐of‐life inventory‐disability score of 74.7 ± 11.4. Twenty caregivers (80%) had a risk of burnout based on the Caregiver burden inventory. Overall, the most common clinical manifestations of PPP2R5D‐related NDD were impaired cognitive, adaptive function, and motor skills; and EEG activity was associated with adaptive functioning. This clinical characterization describes the natural history in preparation for clinical trials. [ABSTRACT FROM AUTHOR]

Pathogenic variants in pleckstrin homology domain interacting protein (PHIP) are associated with Chung–Jansen syndrome characterized by developmental delay, intellectual disability, behavioral challenges, hypotonia, obesity, and dysmorphic features. We report phenotypes and genotypes of 47 individuals with likely pathogenic/pathogenic PHIP variants. Variants were de novo in 61.7%, unknown inheritance in 29.8%, and inherited in 8.5%. The median age of the individuals was 10.9 years, approximately equally divided by sex. Individuals in this cohort frequently had a history of developmental delay (85.1%), attention‐deficit/hyperactivity disorder (51.1%), anxiety (46.8%), depression (27.7%), and sleep difficulties (42.6%). Depression was significantly higher in the older age group (>12 years old). Most individuals had moderately low adaptive functioning based on the Vineland‐3 (mean = 76.8, standard deviation = 12.0). Overall, 55.8% of individuals were obese/overweight. The percentage of obese individuals was greater in the older age group (>12 years old) and evolves over time. Other common symptoms were hypotonia (78.7%), constipation (48.9%), visual problems (66%), and cryptorchidism (39.1% of males). Our findings provide additional natural history data for Chung–Jansen syndrome and provide opportunities for early intervention of healthy eating habits and awareness of developing mood and behavioral challenges over the life course. [ABSTRACT FROM AUTHOR]

Objectives: Idiopathic central precocious puberty (iCPP) is the most common cause of precocious puberty in girls. However, research on the psychological outcomes of iCPP girls is limited. To evaluated the psychological characteristics in iCPP girls in comparison to prepubertal girls throughout the first diagnosis and six-month follow-up period., Methods: Eighty-five girls, age 6-8 years, and their caregivers were enrolled to the prospective cohort study. Three Thai-standardized questionnaires were used as psychological assessment tools, including Children's Depression Inventory (CDI), Parent Screen for Child Anxiety Related Disorders (SCARED) and Parent-Strengths and Difficulties Questionnaire (SDQ)., Results: Forty-six iCPP and 39 prepuberty girls were enrolled at baseline. No significant differences in psychological and behavioral problems between iCPP and prepuberty girls. However, the iCPP group exhibited a significantly higher proportion of "risk and problem" for emotional problems compares to the prepuberty group (7 vs. 0, p 0.01) while the prepuberty group exhibits the significantly proportion of "risk" for peer problems (6 vs. 0, p 0.007). At baseline, twelve percent of iCPP girls exhibited depression and mean CDI score was 8.1 ± 7.2 and 3.7 ± 2.3 (p 0.007) in iCPP and prepuberty group, respectively. At the 6-month follow-up, there was no significant difference in psychological outcomes between two groups., Conclusions: There were no significant differences in psychological and behavioral problems in iCPP girls compared to prepubertal girls. However, the higher prevalence of emotional problems and depression observed in iCPP girls constitutes significant psychological issues that necessitate close monitoring., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)