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.
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.
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.
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.
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.
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.
•Surgical procedures involve traumatic stress. a significant portion of children can develop chronic psychological distress and dysfunction and consequent lack of compliance with medical follow-up.•Sharing medical information with young children regarding invasive interventions is in significant correlation with the development of chronic post-traumatic stress.•Implementing educational guidance programs to increase the awareness towards the risks of not sharing medical information will help reduce the development of PMTS in children.
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.
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.
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.
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.
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. Conclusions: Our results suggest that living in SH is associated with benefits for physical health and behavior without negatively affecting QOL.
The variable hypogonadism in Prader-Willi syndrome (PWS) has generally been attributed to hypothalamic dysfunction. Recent studies have documented primary testicular dysfunction in PWS males. Our ...aims were to characterize sexual development and reproductive hormones in PWS females and to investigate the etiology of hypogonadism.
A cross-sectional study.
Physical examination was performed on 45 PWS females (aged 6 weeks to 32 years) and blood samples were obtained for hormonal analyses.
Age of onset and progression of puberty varied; most adults had incomplete sexual development. Spontaneous menarche was reported in four (aged 15-30 years) but all had subsequently developed secondary amenorrhea or oligomennorrhea. Anti-Mullerian hormone levels were within the normal range in all age groups. Inhibin B was consistently low or undetectable; only five women had levels in the low-normal range (20-54 pg/ml). LH was normal in most children, but low (<1.0 IU/l) in 9 of 15 adults. FSH was within the normal range for age in most children, but low (<0.5 IU/l) in 10 and high in four adults. Estradiol levels were normal-low and androgen levels were normal in the majority.
Pubertal development in PWS females, as in males, is characterized by normal adrenarche, pubertal arrest, and hypogonadism due to variable combinations of a unique primary gonadal defect and hypothalamic dysfunction.
Abstract 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.
We characterized the spectrum and etiology of hypogonadism in a cohort of Prader-Willi syndrome (PWS) adolescents and adults.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Prognosis study (level of evidence – 1).
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