Decreased mononuclear cell NR3C1 SKA2 and FKPB5 expression levels among adult survivors of suicide bombing terror attacks in childhood are associated with the development of PTSD.

Life threatening trauma and the development of PTSD during childhood, may each associate with transcriptional perturbation of immune cell glucocorticoid reactivity, yet their separable longer term contributions are less clear. The current study compared resting mononuclear cell gene expression levels of the nuclear receptor, subfamily 3, member 1 (NR3C1) coding the glucocorticoid receptor, its trans-activator spindle and kinetochore-associated protein 2 (SKA2), and its co-chaperon FKBP prolyl isomerase 5 (FKBP5), between a cohort of young adults first seen at the Hadassah Emergency Department (ED) after surviving a suicide bombing terror attack during childhood, and followed longitudinally over the years, and matched healthy controls not exposed to life threatening trauma. While significant reductions in mononuclear cell gene expression levels were observed among young adults for all three transcripts following early trauma exposure, the development of subsequent PTSD beyond trauma exposure, accounted for a small but significant portion of the variance in each of the three transcripts. Long-term perturbation in the expression of immune cell glucocorticoid response transcripts persists among young adults who develop PTSD following life threatening trauma exposure in childhood, denoting chronic dysregulation of immune stress reactivity.

The importance of gynecological examination in adolescent girls and adult women with Prader-Willi syndrome.

Current published guidelines for routine care of women with Prader-Willi syndrome (PWS) do not include recommendations for gynecologic examinations. We describe our experience with gynecological examinations in women with PWS and offer recommendations for routine health care for these patients. Data were collected on all 41 PWS females ages ≥12 year, followed in our national Israeli multidisciplinary clinic between the years 2011 and 2022. Menstrual data and findings on external gynecological examination, including evaluation of the vulva and hymen were recorded at yearly visits. During the gynecological evaluation the topic of sexual education was discussed. Pelvic ultrasound, specifically for antral follicular count, was performed for those visiting the clinic during 2020-2022. Blood samples for luteinizing hormone (LH), follicular stimulating hormone (FSH), and estradiol were obtained routinely and DEXA scans for bone density were done when indicated. Of the 41 women, (median age at start of follow-up 17 years, range [12.3-39], BMI 30.4 kg/m2 [IQR 23.5-37.1]), 39 women agreed to external gynecological examination. Eleven women (27%) had spontaneous menses, with menarche at the age of 14 to as late as 31 years. The hymen was intact in all except one. Poor hygiene was observed in eight women, three women with vulvovaginitis, and five with irritated vulva related to poor hygiene. Gynecological ultrasound was performed in 27 women. In 22, endometrial thickness was less than 5 mm. The median antral follicular count (AFC) was 6 (<10th percentile for age). No correlation between AFC and menstruation or BMI was found. Mean FSH level was 5.7 ± 3.6 IU, LH was 2.29 ± 2.23, and estradiol was 128 ± 76 pmol/L. Data on DEXA measurements were available in 25 women aged 16-39. Median spine T score was -1.3 (range between 0.5 and -3.7), and hip T score was -1.2 (range between 0.8 and -3.3). A negative correlation was found between endometrial thickness and the presence of osteopenia or osteoporosis (r = -0.5, p = 0.013). Despite our recommendations, only eight of 14 women agreed to hormonal treatment or contraception. One woman who received treatment had a thromboembolic event. Routine health care for women with PWS should include gynecological examinations. The gynecological evaluation should include external genital examination, assessment of hygiene, obtaining a blood sample for hormone levels, and documenting a history of sexual experience or sexual abuse. Hormonal treatment or contraception should be offered when appropriate.

Resting mononuclear cell NR3C1 and SKA2 expression levels predict blunted cortisol reactivity to combat training stress among elite army cadets exposed to childhood adversity.

Childhood adversity (CA) may alter reactivity to stress throughout life, increasing risk for psychiatric and medical morbidity, yet long-term correlates of milder CA levels among high functioning healthy adolescents are less studied. The current study examined the prevalence and impact of CA exposure among a cohort of healthy motivated elite parachute unit volunteers, prospectively assessed at rest and at the height of an intensive combat-simulation exposure. We found significantly reduced gene expression levels in resting mononuclear cell nuclear receptor, subfamily 3, member 1 (NR3C1), and its transactivator spindle and kinetochore-associated protein 2 (SKA2), that predict blunted cortisol reactivity to combat-simulation stress among CA exposed adolescents. Long-term alterations in endocrine immune indices, subjective distress, and executive functions persist among healthy high functioning adolescents following milder CA exposure, and may promote resilience or vulnerability to later real-life combat exposure.

Long-term weight control in adults with Prader-Willi syndrome living in residential hostels.

Hyperphagia leading to severe obesity with increased morbidity and mortality is the major manifestation of Prader-Willi syndrome. Caring for these individuals in a home environment is challenging and stressful for caregivers and families. Residential hostels specifically for PWS adults offer programs of diet, exercise, and vocational opportunities, but long-term effects of PWS hostel living have not been reported. We studied long-term changes in body mass index (BMI) for PWS adults living in residential hostels compared with age-matched controls living with families at home. The study included all 34 individuals (18 men) aged >17 years with genetically confirmed PWS living in residential hostels. BMI was recorded at the time of yearly clinic visits and compared to 23 PWS adults (10 men) living at home. BMI on entering the hostel was 36.3 ± 11.0 kg/m2 and decreased to 27.0 ± 5.6 kg/m2 (p < 0.001) after 6.9 ± 3.9 years. For 21 residents, a slight rise of BMI to 28.8 kg/m2 was observed 5.1 ± 2.5 years after the lowest value was achieved. BMI of 23 PWS adults at home was 36.8 ± 12.7 kg/m2 versus 27.9 ± 7.1 kg/m2 for hostel residents in the same age range (p = 0.008). From 2008 to 2019, there were five deaths among PWS individuals aged 18-40 years living at home, compared with one death (a 43-year-old man) among hostel residents. Adults with PWS living in hostels lose weight, maintain BMI values in a normal to mildly overweight range, and have lower mortality in contrast to individuals in a family home environment.

Syndrome-Related Risk Factors for Sexual Abuse: The Example of Prader-Willi Syndrome.

Many genetic disorders associated with intellectual disability are characterized by unique behavioral phenotypes which may have serious psychological consequences such as increasing the risk for sexual abuse (SA). Prader-Willi Syndrome (PWS), a severe neurogenetic syndrome with uncontrollable hyperphagia and high threshold for pain, is an excellent example of this issue. The absence of reports on SA in PWS highlights the lack of awareness to the topic. Our aim was to report on SA in individuals with PWS, describe its unique characteristics, and offer recommendations for its prevention. Caregivers of all individuals with genetically confirmed PWS living in the only two residential facilities designated for PWS in Israel were interviewed for a history of sexual behavior and abuse, and medical data were collected from their files. SA was reported in a quarter of the sample. In most of the cases (78%), food reward was used by the perpetrators to attract their victims. Age at SA ranged from 11 to 29 years. Most of the individuals did not disclose the event and some continued to initiate inappropriate sexual activity to obtain food. Characteristics unique to PWS, such as food-seeking behaviors and high threshold for pain, likely contribute to the risk for SA. These findings suggest that syndrome-specific programs for SA prevention should be considered for individuals with any genetic syndrome with behavioral problems that may increase SA risk.

Myokine levels after resistance exercise in young adults with Prader-Willi syndrome (PWS).

Individuals with PWS require marked caloric restriction and daily exercise to prevent morbid obesity. Lower energy expenditure, hypotonia, decreased muscle mass, and cognitive impairment make exercise challenging for this population. Exercise guidelines include resistance training as an important component. Myokine responses to resistance exercise may mediate beneficial metabolic effects. We aimed to determine if young PWS adults can perform a resistance exercise program and to measure myokine responses in PWS versus age- and BMI-matched controls. Each group included 11 participants (7M/4F). Ages and BMI for PWS and controls were 30.7 ± 4.6 versus 30.1 ± 4.3 years and 28.3 ± 4.3 versus 28.2 ± 4.2 kg/m2 , respectively. Glucose, creatine kinase (CK), lactate, and myokines were measured before, after, 30, and 60 min after completing eight resistance exercises. Myokines were assayed using a multiplex myokine panel (Merck Millipore). CK was lower in PWS versus controls (62 ± 16 vs.322 ± 100 U/L, p < .04). Peak lactate was 3.7 ± 0.7 in PWS versus 7.3 ± 0.7 mmol/Lin controls (p < .001). The increase in interleukin-6 was similar in PWS and controls (41 ± 16% and 35 ± 10%, respectively). Pre- and post-exercise levels of the six myokines assayed showed no consistent differences between the PWS and control participants. PWS young adults are capable of performing resistance/strength-building exercise. The lower CK and peak lactate levels in PWS may reflect decreased muscle mass in this population. Further studies are needed to determine optimal exercise regimens and assess the role of myokines incontributing to the metabolic phenotype of PWS.

Traumatic Stress Among Children After Surgical Intervention for Congenital Melanocytic Nevi: A Pilot Study.

BACKGROUND: Hospitalization and surgery are traumatic experiences that can result after traumatic stress symptoms (PTSS). Surgical interventions for congenital melanocytic nevus (CMN) can be very stressful, but their potential for causing PTSS has not been studied. We aim to determine prospectively whether children undergoing surgery for CMN develop PTSS and what are the specific risk factors for such an event. OBJECTIVE: The authors aim to determine prospectively whether children undergoing surgery for CMN develop PTSS and what the specific risk factors for such an event are. METHODS: Thirty children who were consecutively hospitalized in a pediatric surgery ward for CMN removal during the study period were recruited voluntarily. About 4 months after discharge from the hospital, the children and their parents were assessed for psychological distress. RESULTS: At the assessment 4 months after hospitalization, the children displayed a significant increase in symptoms of distress in comparison with baseline levels. Moreover, 33.3% met full post-traumatic stress disorder (PTSD) diagnostic criteria. The number of invasive procedures, family resources, and parental distress predicted 40% of the variance in PTSS, with parental distress predicting it most significantly. CONCLUSION: The high prevalence of PTSS among children undergoing CMN removal and among their parents emphasizes the importance of actions for prevention and early treatment of psychological distress.

Should parents share medical information with their young children? A prospective study.

BACKGROUND: As psychiatric consultants to pediatric wards, we are often asked whether to disclose to young children full information about the invasive medical procedures they face. To date, no studies have been published offering an evidence-based answer to this question. This prospective study examined whether sharing medical information with young children regarding invasive interventions correlates with the development of chronic post-traumatic stress three to five months after hospitalization. METHOD: The participants in this prospective study were parents of 151 children aged 3-13 who were hospitalized in a pediatric surgery ward. The sample was representative of the population hospitalized in this ward during that year. Independent of the study, parents of 104 children chose to share with them information regarding the procedure they were about to undergo, while parents of 47 children chose not to do so. t-Tests were used to assess the correlation between the children's exposure to medical information and their level of long-term post-intervention stress. RESULTS: Findings show an inverse correlation between the children's exposure to medical information and their level of post-traumatic stress several months after their medical episode. The correlation is significant in both preschool children and school-aged children. CONCLUSIONS: We suggest the implementation of psychoeducation programs among both medical staff and parents in order to increase awareness of the importance of sharing medical information with young children facing medical challenges.

Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.

A disease specific questionnaire for assessing behavior in individuals with Prader-Willi syndrome.

OBJECTIVE: Prader-Willi syndrome (PWS) is a genetic multisystem disorder with various medical, cognitive, behavioral and psychiatric problems. PWS is caused by the lack of expression of paternal genes on chromosome 15q2-q13 due to a deletion (70-75%), uniparental disomy (25-30%) or imprinting center defect (<5%). The common PWS behavioral and psychiatric characteristics are very typical in all ethnicities and were reported worldwide. Still, each individual has a specific profile of these common traits and the severity of his or her symptoms varies over time. Behavioral problems are the most important factor affecting the quality of life of both the individuals and their families. There is a need for a standardized tool to assess the specific behavioral profile of each individual and its present severity, in order to enable physicians to tailor the specific treatment needed and assist in a more accurate clinical follow up. To the best of our knowledge no such a tool has been standardized and published. We developed, based on the literature (mainly Forster and Gourash's paradigm) and our clinical experience, a 37 item disease specific questionnaire, the "PWS Behavioral Questionnaire" (PWSBQ) for assessing behavior in PWS patients. The purpose of the present study was to validate this tool in the entire adolescent and adult PWS population in Israel. METHODS: The PWSBQ focuses on five major domains-abnormal emotional regulation, food-seeking related behavior, lack of flexibility, oppositional behavior and interpersonal problems and lastly body related behaviors. Caregivers of all Hebrew speaking individuals with PWS over the age of 12 years attending the Israeli national multidisciplinary PWS clinic were recruited. Of the 54 eligible individuals, 53 participated. They were interviewed with the PWSBQ and in addition filled the "Hyperphagia Questionnaire" and the "Child Behavioral Checklist" (CBCL). After verifying the questionnaire's content validity, all items on the PWSBQ were analyzed for internal reliability by calculating Cronbach's α. Criterion validity was evaluated by correlation testing with regard to the Hyperphagia Questionnaire and CBCL. In order to assess the questionnaire's interpretability, the correlation between the PWSBQ and the "Clinical Global Impression" (CGI) scores was evaluated. RESULTS: The PWSBQ total score was positively correlated with both the CBCL total score and the CGI score (0.662 and 0.549, p<0.001 respectively). Of the five domains, four had acceptable internal reliability (excluding the body related behaviors domain, which was thus removed from the total score). Criterion validity was established for the four domains remaining in the statistical analysis (abnormal emotional regulation, food seeking related behavior, lack of flexibility and oppositional behavior and interpersonal problems). CONCLUSIONS: Our findings suggest that the PWSBQ is a valid and reliable tool for the assessment of current behavioral problems among individuals with PWS. Although further research is needed in order to verify PWSBQ's ability to identify changes in the behavioral status of a given individual, it can now be used both in research and in a clinical setting, enabling the physician to plan the most suitable treatment based on the current behavioral status.

The Impact of Parents' Subjective Preparedness on Their Children's Post-Traumatic Symptoms Following Surgery.

The role of parental factors in the emergence of post-traumatic stress symptoms (PTSSs) following pediatric surgeries is well recognized, but the specific influence of parents' subjective preparedness for their child's surgery has not been explored. In a study involving 253 children hospitalized in a pediatric surgery ward, parents completed a demographic questionnaire during their child's stay, which included the question, "As a parent, have you been prepared for the surgical intervention your child is undergoing?" Four months post-surgery, the same parents were interviewed using two questionnaires that evaluated their children's post-traumatic symptoms. Our findings indicate that in emergency surgical settings, children whose parents felt prepared experienced significantly fewer PTSSs compared to children whose parents did not feel prepared. In contrast, for elective surgeries, parental subjective perception of preparedness did not significantly impact the children's PTSSs. We conclude that for emergency surgical procedures, addressing parents' subjective preparedness could be crucial. Further research is necessary to develop targeted interventions that leverage this insight to minimize the risk of PTSSs in children undergoing emergency surgeries.

Quality of Life for Adults with Prader-Willi Syndrome in Residential Group Homes.

Background: Strict regimens of restricted caloric intake and daily physical exercise are life-saving in Prader-Willi syndrome (PWS) but are extremely challenging in home environments. PWS-specialized hostels (SH) succeed in preventing morbid obesity and in coping with behavioral disorders; however, effects of restricted living environments on quality of life (QOL) have not been described. Evidence on QOL is critical for clinicians involved in placement decisions. Methods: We examined the impact of living in SH versus at home or in non-specialized hostels (H and NSH) on QOL, behavior, and health parameters. All 58 adults (26 males) followed-up in the National Multidisciplinary Clinic for PWS were included: 33 resided in SH, 18 lived at home, and 7 lived in NSH. Questionnaires were administered to primary caregivers to measure QOL, and data were obtained from the medical records. Results: The H and NSH group were compared with those for adults in SH. Despite strict diet and exercise regimens, QOL was similar for both groups. Eight-year follow-up showed that food-seeking behavior decreased in SH but increased in H and NSH. BMI, cholesterol, and triglyceride levels were lower in SH. Conclusion: Our results suggest that living in SH is associated with benefits for physical health and behavior without negatively affecting QOL.

Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by an insatiable appetite, dysmorphic features, cognitive and behavioral difficulties, and hypogonadism. The heterogeneous reproductive hormone profiles indicate that some PWS women may have symptoms of hypoestrogenism, while others may potentially be fertile. We describe our experience in the assessment and treatment of hypogonadism in adolescents and adult females with PWS. The study population consisted of 20 PWS females, age ≥16 years (27.3 ± 7.9 years), followed in our clinic (12 deletion, 7 uniparental disomy, 1 imprinting-center defect). General physical examination, pubertal assessment, body mass index (BMI), gynecological examination, ultrasonography, bone densitometry, and hormonal profiles [FSH, LH, inhibin B, estradiol, prolactin, and TSH] were performed. The relevant assessed factors were: FSH and inhibin B, menstrual cycles (oligo/amenorrhea or irregular bleeding), ultrasound findings (endometrial thickness, uterine/ovarian abnormalities), BMI, bone densitometry, and patient/caregivers attitude. We classified seven women with inhibin B >20 ng/ml as potentially fertile. Following the assessment of the above factors, we recommended the individual-specific treatment; contraceptive pills, intra-uterine device, estrogen/progesterone replacement, and cyclic progesterone, in 3, 1, 4, and 1 patients, respectively. Four patients did not follow our recommendations due to poor compliance or family refusal. We recommended contraception pills for one 26-year-old woman with inhibin B and FSH levels 53 ng/ml and 6.4 IU/L; however, she refused treatment, conceived spontaneously and had an abortion. Guidelines for hormonal replacement therapy in PWS need to be tailored individually depending on physical development, hormonal profiles, bone density, and emotional and social needs of each PWS adolescent and adult.

A Cross Sectional Study to Identify Traumatic Stress, Medical Phobia and Non-Adherence to Medical Care among Very Young Pediatric Patients.

After a traumatic medical event, such as surgery or hospitalization, a child may develop a phobia of medical care, sometimes preventing future medical adherence and impairing recovery. This study examined the correlation of Pediatric Medical Traumatic Stress (PMTS) on the development of Medical Phobia (MP) and subsequent treatment adherence. We enrolled 152 parents of children aged 1-6 hospitalized in a surgical ward. During hospitalization, parents completed questionnaires that identified post-traumatic stress symptoms. Four months post hospitalization, parents completed questionnaires on post-traumatic stress, medical phobia, psychosocial variables and medical adherence. We found a positive correlation between PMTS and MP and low adherence to medical treatment. In addition, MP mediated the relationship between PMTS severity and adherence, indicating that PMTS severity is associated with stronger medical phobia, and lower pediatric adherence to medical treatment. Our findings suggest that medical phobia serves as an essential component of PMTS. It is important to add medical phobia to medical stress syndrome definition. In addition, as MP and PMTS are involved in the rehabilitation and recovery process and subsequent success, it is an important aspect of treatment adherence.

The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction.

BACKGROUND: We characterized the spectrum and etiology of hypogonadism in a cohort of Prader-Willi syndrome (PWS) adolescents and adults. METHODS: Reproductive hormonal profiles and physical examination were performed on 19 males and 16 females ages 16-34 years with PWS. Gonadotropins, sex-steroids, inhibin B (INB) and anti-Mullerian hormone (AMH) were measured. We defined 4 groups according to the relative contribution of central and gonadal dysfunction based on FSH and INB levels: Group A: primary hypogonadism (FSH >15 IU/l and undetectable INB (<10 pg/ml); Group B: central hypogonadism (FSH <0.5 IU/l, INB <10 pg/ml); Group C: partial gonadal & central dysfunction (FSH 1.5-15 IU/l, INB >20 pg/ml); Group D: mild central and severe gonadal dysfunction (FSH 1.5-15 IU/l, INB < 10 pg/ml. RESULTS: There were 10, 8, 9 and 8 individuals in Groups A-D respectively; significantly more males in group A (9, 4, 4 and 2; P = 0.04). Significant differences between the groups were found in mean testosterone (P = 0.04), AMH (P = 0.003) and pubic hair (P = 0.04) in males and mean LH (P = 0.003) and breast development (P = 0.04) in females. Mean age, height, weight, BMI and the distribution of genetic subtypes were similar within the groups. CONCLUSIONS: Analysis of FSH and inhibin B revealed four distinct phenotypes ranging from primary gonadal to central hypogonadism. Primary gonadal dysfunction was common, while severe gonadotropin deficiency was rare. Longitudinal studies are needed to verify whether the individual phenotypes are consistent.

Intercultural Differences in the Development of Pediatric Medical Traumatic Stress (PMTS) in Children Following Surgical Hospitalization.

BACKGROUND: Illness, surgery and surgical hospitalization are significant stressors for children. Some children who experience such a medical event may develop Pediatric Medical Traumatic Stress (PMTS). PMTS affects physical recovery, and many areas and functions in children's lives, both short- and long-term. The aim of the study is to examine the difference in the rate of PMTS between the Arab and Jewish populations and the difference in risk factors for the development of this syndrome. METHOD: The study involved 252 parents of children aged 1-6 who were hospitalized in the surgical ward of Hadassah Medical Center. During hospitalization, parents completed questionnaires to identify risk factors for the development of PMTS. At 3 months from the time of discharge, the children's level of PMTS was measured. RESULTS: The rate of children diagnosed with PMTS among Arab children was significantly higher than the rate in the Jewish population. The affiliation to an ethnic group affected different socioeconomic, demographic, social, linguistic and cultural background variables, which in turn affected the emergence of PMTS. CONCLUSION: The study emphasizes the nature of PMTS at the intercultural level, which can be an important source for theoretically understanding both the disorder and culture, as well as for clinical implications in developing population-sensitive treatment.

Body image and sexual interests in adolescents and young adults with Prader-Willi syndrome.

BACKGROUND: Hypogonadism is a major feature of Prader-Willi syndrome (PWS), but clinical manifestations are variable. Sexual interests and behavior in this population have not been previously described. OBJECTIVES: We studied PWS adolescents and young adults to assess 1) satisfaction with physical and sexual development, 2) frequency of romantic and sexual experiences, 3) aspirations and expectations regarding marriage, 4) possible relationships between sexual interests and hormone levels, and 5) the desire for hormonal replacement therapy. METHODS: The study population consisted of 27 individuals (13 males) ages 17-32 (mean 23.5) years with genetically confirmed PWS. Mean intelligence quotient (IQ) was 75 (range 50-100). We conducted structured interviews using questionnaires specifically designed for this study. RESULTS: There was a significant negative correlation between IQ and body image in both males and females. IQ showed a positive correlation with interest in dating and romantic activities. Approximately half of PWS males and females reported having been on a date and kissing romantically. All males and 64% of the females wished to be married. Seventy-seven per cent of PWS males wanted hormonal treatment to increase phallic size. We found no correlation between hormone levels and sexual interests. Only 43% of PWS females wanted hormonal medication to achieve regular menstruation. CONCLUSION: Despite documented hypogonadism, PWS young adults are interested in sexual and romantic issues. The range of sexual activities and expectations is variable. Understanding specific sexual characteristics of each individual is important in order to offer proper anticipatory sexual guidance counseling and for appropriate recommendations for hormone replacement.

Parental Psychological Flexibility as a Mediating Factor of Post-Traumatic Stress Disorder in Children after Hospitalization or Surgery.

BACKGROUND: Illness, surgery, and surgical hospitalization are significant stressors for children. Children exposed to such medical events may develop post-traumatic medical syndrome (PMTS, pediatric medical traumatic stress) that could slow their physical and emotional recovery. OBJECTIVE: This study examined the relationship between the level of parental psychological resilience and the development of PMTS in young children. METHOD: We surveyed 152 parents of children aged 1-6 who were admitted to the pediatric surgery department. Parents completed questionnaires in two phases. In the first phase, one of the parents completed the Acceptance and Action Questionnaire (AAQ-ll) and the Parental Psychological Flexibility (PPF) Questionnaire. In the second phase, about three months after discharge, the same parent completed the Young Child PTSD (Post Traumatic Stress Disorder) Checklist (YCPC) and the UCLA (Los Angeles, CA, USA) PTSD Reaction Index for DSM-5 Parent/Caregiver Version for Children Age 6 Years and Younger Evaluating Post-traumatic Disorder. In addition, the parent completed a Posttraumatic Stress Diagnostic Scale (PDS) questionnaire to assess the existence of post-traumatic symptoms in the parents. RESULTS: The findings indicate that (1) a parent's psychological flexibility is significantly associated with the level of personal distress (r = -0.45, p < 0.001), (2) a parents' level of distress is significantly correlated with the child's level of PTMS, and (3) a parent's level of psychological flexibility is a significant mediating factor between the level of parental post-traumatic distress and the child's level of PTMS. CONCLUSIONS: A parent's psychological flexibility may act as a protective factor against the development of the child's mental distress after hospitalization or surgery.

Risk factors for the development of medical stress syndrome following surgical intervention.

BACKGROUND: Pediatric surgical procedures involve traumatic stress that may cause psychological distress, leading to decreased adherence to continued surgical follow-up and delayed physical recovery. Risk factors for pediatric medical trauma, however, have not been studied enough. We aim to define the risk factors detectable during hospitalization in pediatric surgery and characterize children at risk of developing PTSD, in order to focus preventive interventions on these children. METHODS: The participants in this prospective study were parents of 235 children aged 1-13 years hospitalized in a pediatric surgical ward, who form a representative sample of patients of this age in the ward. They completed questionnaires measuring symptoms of psychological distress, 3-5 months after discharge. RESULTS: Higher parental stress, parental concerns regarding family social support, and parental concerns regarding sibling problems had a significant positive correlation with the children's emotional distress measured 3-5 months after hospitalization. Among children aged 1-5 years, emergency (as opposed to elective) operation and a higher number of invasive procedures were also positively correlated with the children's PTSS. CONCLUSIONS: There is a need to develop measurements for identifying children at high risk for developing posttraumatic stress following surgical intervention; guidelines for developing such a screening instrument are outlined. TYPE OF STUDY: Prognosis study (level of evidence - 1).

Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome.

BACKGROUND/AIMS: To investigate the etiology of hypogonadism in women with Prader-Willi Syndrome (PWS). METHODS: Ten women aged 23 +/- 5.5 years with PWS and 10 age- and BMI-matched controls were included. Blood samples were drawn and abdominal ultrasounds were performed on days 2-4 of spontaneous cycles or at random from amenorrheic women. Anti-Mullerian hormone (AMH), inhibin B (INB), gonadotropins, sex steroids, TSH, prolactin, ovarian volume and antral follicle count (AFC) in PWS women were compared with results from controls and the reference ranges. RESULTS: Compared to controls, PWS women had lower INB (mean +/- SD = 17.6 +/- 12.8 pg/ml vs. 110.6 +/- 54.5; p = 0.0002) and AMH levels (1.18 +/- 0.86 ng/ml vs. 3.53 +/- 2.42; p = 0.01). INB levels were exceptionally low in all PWS women, but individual AMH levels overlapped with the levels in the controls. Ovarian volume (mean +/- SD = 3.7 +/- 2.3 ml vs. 30.5 +/- 28.8; p = 0.03) and AFC (6.4 +/- 6.9 vs. 14.0 +/- 8.2; p = 0.01) were lower in the PWS group compared to the controls. Three PWS patients had abnormally high follicle-stimulating hormone levels, while only 1 had hypogonadotropic hypogonadism. CONCLUSIONS: Our results suggest a unique follicular stage-specific insult in women with PWS. Thus, primary ovarian dysfunction is a major component of hypogonadism in PWS.