Premenarchal anorexia nervosa: clinical features, psychopharmacological interventions, and rehospitalization analysis in a 1-year follow-up, controlled study.

Premenarchal anorexia nervosa (AN) represents a specific subtype of AN, defined by an onset before the menarche in females, involving unique endocrine and prognostic features. The scarce data on this condition lack case-control and follow-up studies. This is a case-control, observational, naturalistic study, involving participants with premenarchal AN (premenarchal girls presenting to the study center newly diagnosed with AN) treated with a multidisciplinary hospital intervention, compared to postmenarchal AN individuals on clinical, endocrine, psychopathological, and treatment variables. The rate of rehospitalizations on a 1-year follow-up after discharge and respective prognostic factors were assessed with a Kaplan-Meier analysis and Cox regression model. The sample included 234 AN participants (43, 18.4% with premenarchal and 191, 81.6% with postmenarchal AN). When compared to postmenarchal, premenarchal AN individuals presented with lower depressive scores (Self-Administered Psychiatric Scales for Children and Adolescents (SAFA)) (U = 1387.0, p = 0.010) and lower luteinizing hormone (LH) levels (U = 3056.0, p = 0.009) and were less frequently treated with antidepressants (X2 = 5.927, p = 0.015). A significant predictive model of the risk of rehospitalization (X2 = 19.192, p = 0.004) identified a higher age at admission (B = 0.522, p = 0.020) and a day-hospital (vs inpatient) treatment (B = 3957, p = 0.007) as predictive factors for rehospitalization at 1-year, independent from the menarchal status.   Conclusion: This study reports the clinical and treatment characteristics of premenarchal AN in one of the largest samples available in the current literature. Specific clinical features and prognostic factors for rehospitalization at 1-year follow-up were identified. Future studies should longitudinally investigate treatment-dependent modifications in endocrine and psychopathological measures in this population. What is Known: • Premenarchal Anorexia Nervosa (AN) is a subtype of AN characterized by its onset before menarche in females and is associated with unique endocrine and prognostic features. What is New: • Individuals with premenarchal AN may display specific clinical profiles, with lower depressive symptoms and luteinizing hormone levels than postmenarchal controls.

Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.

Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to prolonged seizures. The International League Against Epilepsy (ILAE) identified 13 chromosomal disorders associated with epilepsy (CDAE); data regarding SE occurrence in these patients is lacking. A systematic scoping review was conducted to outline current literature evidence about clinical features, treatments, and outcomes of SE in pediatric and adult patients with CDAE. A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, n = 20), Ring 20 Syndrome (R20, n = 24), and other syndromes (n = 21). Non-convulsive status epilepticus (NCSE) is frequently observed in AS and R20. No specific, targeted therapies for SE in CDAE are available to date; anecdotal reports about SE treatment are described in the text, as well as various brief- and long-term outcomes. Further evidence is needed to precisely portray the clinical features, treatment options, and outcomes of SE in these patients.

Children with Prepubertal Anorexia Nervosa: assessing the sex hormone profile and prognostic factors for inpatient treatment outcomes.

BACKGROUND: Even though Anorexia Nervosa (AN) is an emerging research topic, scarce literature data are available on children with prepubertal AN. To date, no specific study has assessed the potential prognostic factors on treatment outcomes in this population. METHODS: Observational, retrospective study of 39 children (12.5±1.8 years) hospitalized for AN, with primary amenorrhea and absence of pubertal development at clinical examination. Sexual hormonal profile: plasma levels luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol (E2), progesterone (P4), and prolactin (PRL) were assessed at admission. Clinical (age, duration of illness, comorbidity, admission body-mass index - BMI), treatment (psychopharmacological therapies) and outcome (BMI improvement, length of hospital stay - LOS) variables were assessed. Multiple linear regressions were conducted to assess potential predictors of outcomes. RESULTS: A predictive model of BMI improvement (F(4, 32)=8.713; Adjusted R2=0.491; p<0.001) was documented, with longer LOS (B=0.010; p<0.001), lower plasma levels of E2 (B=-0.043; p=0.002) and lower plasma levels of LH (B=-0.292, p=0.043) predicting a greater BMI improvement. A predictive model of LOS (F(2, 38)=9.527; Adjusted R2=0.310; p<0.001) was documented as well, with younger age (B=17.835; p<0.001), and reduced BMI improvement (B=22.656; p=0.012) predicting a shorter LOS. No predictive value of comorbidity, FSH, P4 or PRL was found. CONCLUSIONS: This is the first study to investigate the prognostic value of sex hormones on the treatment of children with prepubertal AN. Low E2, LH, and age, but not FSH, P4 or PRL, were associated with better outcomes. These data should be investigated in wider populations and controlled studies.

Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals.

BACKGROUND: Developmental delay and intellectual disability are two pivotal elements of the phenotype of Pallister-Killian Syndrome (PKS). Our study aims to define the cognitive, adaptive, behavioral, and sensory profile of these patients and to evaluate possible correlations between the different aspects investigated and with the main clinical and demographic variables. METHODS: Individuals of any age with genetically confirmed PKS were recruited. Those ≤ 42 months were administered the Bayley Scales of Infant and Toddler Development Third Edition (Bayley-III), and those > 42 months the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II). Stereotyped behaviors (Stereotypy Severity Scale, SSS) and aggressive behaviors (Behavior Problems Inventory-Short Version, BPIs) were assessed in all subjects > 1 year; sensory profile (Child Sensory Profile 2, C-SP2) in all aged 2-18 years. RESULTS: Twenty-two subjects were enrolled (11 F/11 M; age 9 months to 28 years). All subjects ≤ 42 months had psychomotor developmental delay. Of the subjects > 42 months, 15 had low IQ deviation, and 1 in the normal range. Stereotypies were frequent (median SSS-total score 25/68). Lower Vineland-II values corresponded to greater intensity and frequency of stereotypies (p = 0.004 and p = 0.003), and self-injurious behaviors (p = 0.002 and p = 0.002). Patients with severe low vision had greater interference of stereotypies (p = 0.027), and frequency and severity of aggressive behaviors (p = 0.026; p = 0.032). The C-SP2, while not homogeneous across subjects, showed prevalence of low registration and sensory seeking profiles and hypersensitivity to tactile and auditory stimuli. Lower Vineland-II scores correlated with higher Registration scores (p = 0.041), while stereotypies were more frequent and severe in case of high auditory sensitivity (p = 0.019; p = 0.007). Finally, greater sleep impairment correlated with stereotypies and self-injurious behaviors, and lower Vineland-II scores. CONCLUSIONS: The present study provides a further step in the investigation of the etiopathogenesis of the syndrome. Furthermore, these aspects could guide rehabilitation therapy through the identification of targeted protocols.