Caregiving burden and special needs of parents in the care of their short-statured children - a qualitative approach.

Purpose: To explore caregiving burden, health-related quality of life (HRQOL), stress, and individual resources of parents in the care of children with isolated growth hormone deficiency (IGHD) or idiopathic short stature (ISS). Methods: Focused interview analysis of previously, within the Quality of Life in Short Stature Youth (QoLISSY) project, conducted structured focus group discussions (n=7) with parents (n=33) of children with IGHD/ISS aged 4 to 18 years were performed. Results: 26 out of the 33 parents reported mental stress due to their child's growth disorder. Social pressure and stigmatization were also mentioned as being demanding. Some parents reported having trouble with human growth hormone (hGH) treatment. Several parents wished for parent support groups with other like-minded parents of short-statured children. Conclusion: For physicians, it is essential to understand the parents' caregiving burden, stress, and individual resources in caring for IGHD/ISS children. If an impaired HRQOL is detected, psychological intervention for these parents may be scheduled, and coping mechanisms may be discussed. Furthermore, it seems essential for parents to be educated by their healthcare provider about the possible side effects of hGH treatment or to know where to find evidence-based information about it.

Adult height and health-related quality of life in patients born small for gestational age treated with recombinant growth hormone.

Health related quality of life (HRQoL) is a relevant result when assessing the course of different pathologies and the efficacy of their treatments. HRQoL has been studied previously on adults born small for gestational age (SGA), both in the general population and in patients who had received recombinant human growth hormone (rhGH) treatment, with disparate results. Our study included 50 adults who had received rhGH treatment for the SGA indication in 4 Spanish hospitals. Data have been gathered retrospectively from their clinical records, current weight and height were measured, and patients have been asked to fill out SF-36 and QoLAGHDA quality of life forms, and the Graffar test to evaluate their socio-economical status. Patient's adult height was - 1.2 ± 0.9 SD, lower than their target height of 1 ± 0.8 SD, but gaining 1.7 ± 1 SD from the beginning of the treatment. SF-36 test results showed lower scoring on Mental Health domains than on those related to Physical Health. No correlation was found between HRQoL results and final height, rhGH treatment duration or puberty. Correlation was indeed found between QoLAGHDA and several domains of SF-36, but QoLAGHDA detected fewer patients with low HRQoL than SF-36. Thus, it is concluded that SGA patient's follow-up should include a HRQoL, neuro-cognitive and psychiatric assessment in their transition to adult age. Adult SGA patients without catch up growth have impaired HRQoL, especially in mental health domains.

The psychological distress of parents is associated with reduced linear growth of children: Evidence from a nationwide population survey.

BACKGROUND: Stunting, an indicator of restricted linear growth, has become a primary measure of childhood undernutrition due to its persistent high prevalence globally, and importance for health and development. Although the etiology is recognized as complex, most analyses have focused on social and biomedical determinants, with limited attention on psychological factors affecting care and nurturing in the home. We assessed whether the psychological distress of parents is related to child linear growth and stunting, and documented the associated risk factors, and examined the relationship between parental distress and behavioral and other risk factors for stunting. METHODS: We used data from the Indonesia National Health Survey 2013, including 46,315 children 6-59 months of age. Multivariate linear, logistic, and multilevel multinomial logistic regression, using survey weights, were used to assess the relationship between parental distress, as assessed by the WHO Self Reporting Questionnaire (SRQ20), with height-for-age z score (HAZ), stunting, and behavioral and other risk factors for stunting. RESULTS: Maternal, paternal and parental distress (i.e. both maternal and paternal distress) were associated with reduced linear growth of the children by 0.086 (95% CI -0.17, -0.00), 0.11 (95% CI -0.24, -0.02) and 0.19 (95% CI -0.37, -0.00) HAZ-scores, respectively. Maternal and paternal distress increased the risk of mild stunting (HAZ <-1) by 33% (95% CI 1.17,1.50) and 37% (95% CI 1.18,1.60), and the risk of moderate stunting (HAZ <-2) by 25% (95% CI 1.10,1.43) and 28% (95% CI 1.08,1.51]), respectively. Parental stress increased the risk of moderate stunting by 40% (95% CI 1.06,1.85). Amongst specific groups of risk factors, the proportion of HAZ-score lost was associated with socioeconomic factors (30.3%) including, low wealth, low maternal occupational status, low maternal education, rural residence, and low paternal occupational status; physiological factors (15.5%) including low maternal height, low maternal mid-upper arm circumference, being male, low paternal height; behavioral factors (8.9%) including open garbage disposal, paternal smoking, not using iodized salt; and experiencing at least one infectious diseases episode (1.1%). CONCLUSIONS: Maternal, paternal and parental stress were associated with reduced linear growth of children. These findings highlight the complex etiology of stunting and suggest nutritional and other biomedical interventions are insufficient, and that promotion of mental and behavioral health programs for parents must be pursued as part of a comprehensive strategy to enhance child growth and development, i.e. improved caretaker capacity, integrated community development, improved parenting skills, as well as reduced gender discrimination, and domestic violence.

Impact of short stature on quality of life: A systematic literature review.

OBJECTIVE: We sought to obtain a better understanding of the burden of short stature using a systematic literature review. METHODS: Studies of the burden of short stature, of any cause in adults and children, were searched using Embase, MEDLINE and Cochrane databases in April 2020, capturing publications from 2008 onwards. Case series and populations with adult-onset growth hormone deficiency (GHD) were excluded. RESULTS: Of 1684 publications identified, 41 studies (33 in children, 8 in adults) were included. All studies assessed human burden. Most study populations in children included short stature due to GHD, idiopathic short stature (ISS) and short stature after being born small for gestational age (SGA). In these populations, four studies showed that quality of life (QoL) in children with short stature was significantly worse than in children with normal stature. A significant association between QoL and short stature was observed in children with chronic kidney disease (CKD) (3 studies), achondroplasia (1 study) and transfusion-dependent ß-thalassaemia (1 study), and in samples with mixed causes of short stature (3 studies). Three studies (one in GHD/ISS/SGA and two in CKD) found no significant association between short stature and QoL, and several studies did not report statistical significance. Approximately half of adult studies showed that QoL was reduced with short stature, and the other half showed no association. Two studies, one in adults with Prader-Willi syndrome and one in children with GHD, suggested a potential association between short stature and poorer cognitive outcomes. Three studies demonstrated an increased caregiver burden in parents of children with short stature. CONCLUSIONS: Evidence suggests that, compared with those with normal stature, children and adults with short stature of any cause may experience poorer QoL. Further research could extend our understanding of the human burden in this field.

Nutrition, Cognition, and Social Emotion among Preschoolers in Poor, Rural Areas of South Central China: Status and Correlates.

Existing empirical evidence suggests that the prevalence of undernutrition in remote and poor, rural areas is still high among Chinese children. While evidence reveals that undernutrition may detrimentally affect child development, studies focusing on rural Chinese preschoolers are sparse. Using the baseline survey of a preschool's free nutritious lunch pilot program, this study examined the relationship between child undernutrition and developmental outcomes among a preschool-aged sample in poor, rural areas of China. We conducted the baseline survey in Hunan province in south central China in September 2018. A total of 1293 preschoolers living in two (then) nationally designated poverty counties in rural Hunan served as our study sample. Children's nutritional statuses were measured using height-for-age z-score, weight-for-age z-score, and anemia, while their cognitive and socio-emotional skills were assessed using the Wechsler Preschool and Primary Scale of Intelligence (WPPSI) and Strengths and Difficulties Questionnaire (SDQ), respectively. We find that 33% of sample preschoolers were anemic, whereas the incidences of stunting and wasting were 11% and 2%, respectively. About 54% of the sample children had delay in at least one of the developmental domains measured in this study. Our findings provide suggestive evidence supporting that children from certain backgrounds tend to experience worse nutritional and developmental outcomes than their counterparts. After controlling for socioeconomic status, we observed that both anemia and stunting were negatively associated with children's cognitive performance; however, they were not associated with socio-emotional performance. As such, this study suggests that free lunch programs have the potential to change children's developmental trajectory in preschool. We believe that our results will contribute to the debate surrounding whether the nutritious lunch program in China should be expanded to the preschool education level.

One Year of GH Treatment for Growth Failure in Children With Anorexia Nervosa: A Randomized Placebo-Controlled Trial.

CONTEXT: Children with anorexia nervosa (AN) are at risk of adult height deficit due to prolonged low height velocity (HV). OBJECTIVE: To investigate the effects of human growth hormone (GH) injections on HV in children with AN and severe growth impairment. DESIGN AND PARTICIPANTS: In this prospective, randomized, double-blind, single-center, proof-of-concept trial, children with AN and low HV (≤2 cm/year) for at least 18 months, and a bone age ≤12 years for girls and ≤14 years for boys, were randomized to receive daily subcutaneous injections of human GH (0.050 mg/kg/day) or placebo for 12 months. MAIN OUTCOME MEASURES: Change in HV after 12 months. RESULTS: In total, 8 patients were assigned to the GH group and 6 to the placebo group. Patients had a median (25th-75th percentile) HV of 1.0 (0.5;1.5) cm/year. The effect of GH treatment increased strongly after 6 months, with a height gain after 12 months of 9.65 (8.0;11.6) cm for the GH group vs 3.85 (1.7;7.3) cm for the placebo group, with an absolute median (2.5th-97.5th percentile) difference between the groups of 5.8 (-1.85;9.68) cm after bootstrapping. The percentage of patients with a HV > 5 cm/year during the study period was higher in the GH group than in the placebo group (100% vs 50%, P = 0.05). Adverse events occurred in similar numbers in the 2 groups, were mild or nonfatal, and did not lead to treatment being stopped. CONCLUSION: GH administration to improve HV is a potentially valid option for increasing HV in children with AN and prolonged severe growth failure.

Maternal anxiety in relation to growth failure and growth hormone treatment in children.

Health disorders in mothers and their children are subject to mutual influences arising from the nature of mother-child relationship. The aim of the study was to analyze the issue of anxiety amongst mothers of short children in aspect of growth hormone (GH) therapy in Poland.The study was based on a group of 101 mothers of originally short-stature children: 70 with GH deficiency treated with recombinant human GH and 31 undergoing the diagnostic process, without any treatment. Collected medical data included the child's gender, height and weight, chronological age, bone age delay, and GH therapy duration. For all children the height SDS (standard deviation score of height) and BMI SDS (standard deviation score of body mass index) were calculated. The Spielberger State-Trait Anxiety Inventory (STAI) was used to evaluate anxiety levels among the recruited mothers. Obtained results revealed low trait anxiety levels in all mothers, with no statistically significant differences between the groups. State anxiety levels were significantly higher in mothers of children without diagnosis and treatment than in mothers of children receiving appropriate therapy. Significantly lower levels of maternal state anxiety were observed during the first stage of the GH therapy, and they were further reduced in mothers of children treated for more than 4 years.Growth failure in Polish children is not associated with high maternal anxiety as a personality trait, but lack of diagnosis and lack of appropriate treatment seem to generate high levels of anxiety as a transient state in mothers. The initiation of GH therapy induces a substantial reduction of maternal state anxiety, and the duration of this treatment causes its further decrease. Mothers of short children undergoing diagnostic process could benefit from psychological support, but it seems to be unnecessary when their children are treated with GH.

Nutritional status, physical activity and associated nutrition knowledge of primary school learners.

BACKGROUND: Nutrition education has the potential to improve eating habits, physical activity and nutritional status of schoolchildren. AIM: This study aimed to determine the nutritional status, physical activity levels and the associated nutrition knowledge of primary school learners aged 9-14 years in Harare, Zimbabwe. METHODS: A cross-sectional survey was conducted among learners (n = 368) from eight primary schools. A self-administered questionnaire was used to collect sociodemographic, nutrition knowledge and physical activity data. The weights and heights were measured using World Health Organization (WHO) standards. Pearson chi-square and Fisher's exact tests were used to assess association between categorical variables. Binary logistic regression was used to explore the determinants of wasting and overweight. The level of significance was set at p < 0.05. RESULTS: Overweight, wasting and stunting affected 25.8%, 6.3% and 3% of the learners, respectively. Only 52.7% of the learners achieved the WHO recommended 60 minutes of physical activity. The mean±standard deviation nutrition knowledge score of the learners was 70.3±10.9%. Stunted children were more likely to be wasted (odds ratio (OR) = 4.38; 95% confidence interval (CI) 1.07-17.8; p = 0.039). Inadequate dietary diversity score (OR = 0.44; 95% CI 0.22-0.87; p = 0.018) and using non-active forms of transportation (OR = 2.69; 95% CI 1.52-4.76; p = 0.001) were a significant predictor of overweight among the learners. CONCLUSIONS: Overweight was the leading form of malnutrition, coexisting with undernutrition, reflecting the presence of a 'double burden of malnutrition'. Therefore, comprehensive and multi-sectoral interventions to improve healthy eating and physical activity are warranted.

Development and Psychometric Evaluation of an Instrument Assessing Barriers to Growth Hormone Treatment (BAR-GHT).

Purpose: This paper presents development and validation of a new patient reported outcome measure (PRO), the Barriers to Growth Hormone Therapy (BAR-GHT) in a patient (child/adolescent) and a parent version. The BAR-GHT was developed to measure problems and potential barriers to GHT. Methods: The development and validation of the BAR-GHT was conducted according to the Food and Drug Administration (FDA) Guidance on the development of PROs. Concept elicitation included a literature review and open-ended interviews with young patients, parents, and clinical experts. Qualitative data were analyzed based on grounded theory principles and draft items were rated in terms of their importance and clarity. The instruments underwent psychometric validation in a German clinic-based patient population of children and adolescents who inject themselves and in a parent sample who inject their child. The statistical analysis plan included exploratory factor analysis, reliability, and validity. Results: 29 patients, 22 parents, and 4 clinical experts participated in the concept elicitation, 156 children and adolescents aged 8-18 years and 146 parents completed the validation study. Exploratory factor analysis resulted in six domains: Fear, Public Embarrassment, Annoyance, Daily Routine, Supplies, and Travel. Internal consistencies and test-retest reliabilities of the total score of both the patient version and the parent version were >0.8. Convergent and discriminant validity was demonstrated. Conclusions: The final 19-item BAR-GHT for patients aged 8-18 years and the 16-item version for parents can be considered reliable and valid PROs of barriers to GHT. Clinical Trial Registration: www.ClinicalTrials.gov, identifier: NCT03672617. Universal Trial Number (UTN) of the International Clinical Trials Registry Platform (ICTRP, www.who.int): U1111-1210-1036.

The clinician's role in promoting resiliency for individuals and families with growth anomalies.

Some recent clinic and population-based studies suggest that severe short stature is not associated with significant behavioral and psychological problems, however collectively studies on this topic are variable and frequently contradictory. In light of these contradictory sources, it is important to recognize that there may be some children for whom growth failure is disabling. Many of such children can respond to counseling and support, but there may be occasions in which therapy can be recommended. Resiliency can be defined as a pattern of positive adaptation in the context of past or present adversity with resiliency in childhood defined as typical development in the face of adverse circumstances that propel others to deleterious outcomes. Several strategies for promoting resilience in short stature patients and their families include 1) conducting a comprehensive psychosocial assessment; 2) recommending psychological strategies to directly address predictable social challenges associated with short stature; 3) discouraging the expectation that taller stature is associated with improvement in quality of life and; 4) discussing treatment efficacy in terms of the degree of certainty and magnitude of effects. Recognizing time constraints in clinical settings, these approaches can be carried out across multiple visits. Being aware of, honoring, and addressing factors the parent and patient use in making their treatment decisions has the potential to promote resiliency in patients and families. This approach to clinical care can serve to promote resiliency in clinicians as well.

How sociophenomenology of the body problematises the 'problem-oriented approach' to growth hormone treatment.

This article examines how people who are shorter than average make sense of their lived experience of embodiment. It offers a sociophenomenological analysis of 10 semistructured interviews conducted in the Netherlands, focusing on if, how, and why height matters to them. It draws theoretically on phenomenological discussions of lived and objective space, intercorporeality and norms about bodies. The analysis shows that height as a lived phenomenon (1) is active engagement in space, (2) coshapes habituated ways of behaving and (3) is shaped by gendered norms and beliefs about height. Based on this analysis, the article challenges what we label as the 'problem-oriented approach' to discussions about growth hormone treatment for children with idiopathic short stature. In this approach, possible psychosocial disadvantages or problems of short stature and quantifiable height become central to the ethical evaluation of growth hormone treatment at the expense of first-hand lived experiences of short stature and height as a lived phenomenon. Based on our sociophenomenological analysis, this paper argues that the rationale for giving growth hormone treatment should combine medical and psychological assessments with investigations of lived experiences of the child. Such an approach would allow considerations not only of possible risks or disadvantages of short stature but also of the actual ways in which the child makes sense of her or his height.

Tatton-Brown-Rahman syndrome: cognitive and behavioural phenotypes.

The aim of this case series was to assess and characterize cognitive abilities, autistic traits, and adaptive behaviour in Tatton-Brown-Rahman syndrome (TBRS). The sample included 18 individuals with a clinical and genetic diagnosis of TBRS (11 males, seven females; mean age 17y 7mo, SD 9y 5mo, range 7y 2mo-33y 10mo). The British Ability Scales, Third Edition and the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) were administered to all participants. The Social Responsiveness Scale, Second Edition and the Vineland Adaptive Behaviour Scales, Third Edition were completed by a parent/caregiver. The majority of participants (n=15) had intellectual disability and General Conceptual Ability scores ranged from 39 to 76 (mean 53.17, SD 12.13). Participants displayed a profile of better verbal ability compared with non-verbal reasoning ability and spatial ability. Autistic traits were prevalent and eight participants scored above the cut-off on the ADOS-2, although symptoms were less pronounced in older individuals. Adaptive functioning was impaired but commensurate with intellectual ability. Overall, TBRS is associated with an uneven cognitive profile and a high prevalence of autistic traits. This has implications for identifying appropriate services and support that may be beneficial for individuals with TBRS. WHAT THIS PAPER ADDS: Tatton-Brown-Rahman syndrome is associated with intellectual disability and impaired adaptive functioning. Autistic traits were prevalent within the sample. Lower intellectual ability and adaptive behaviour were associated with greater severity of autistic traits.

Psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire in a randomized open-label comparator trial in idiopathic short stature.

Background In addition to increasing linear growth, improvement in health-related quality of life (HRQOL) is an important endpoint in the treatment of short statured youth. Hence, condition-specific psychometric valid instruments that adequately assess HRQOL are needed. We aimed to confirmatorily examine the psychometric performance of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire used in a previously reported prospective randomized open-label trial. Methods This trial compared treatment of idiopathic short stature (ISS) in 76 adolescent males with either oral aromatase inhibitors (AIs), subcutaneous daily growth hormone (GH) or a combination treatment (AI/GH) for at least 2 years, demonstrating improvements in HRQOL with the GH and AI/GH interventions. HRQOL was assessed from the child's and parent's perspectives with the short stature-specific QoLISSY and the generic KIDSCREEN questionnaires before and 24 months into treatment. Scale scores and psychometric properties were examined regarding reliability and validity of the QoLISSY questionnaire using the dataset from the published trial. Results The QoLISSY questionnaire showed high internal consistency and satisfactory criterion, convergent and known-groups validity. Scale scores were evenly distributed with no major floor or ceiling effects. Responsiveness analyses suggest that the QoLISSY questionnaire detects significant changes in HRQOL after 2 years of treatment with growth-promoting therapies in children with short stature from both the child's and parent's perspectives. Conclusions The QoLISSY questionnaire is a psychometrically sound, reliable and valid instrument that can explore the experiences associated with short stature, track HRQOL changes over time and in response to treatment, and highlight HRQOL domains that can be improved through intervention.

Growth hormone treatment and health-related quality of life in children and adolescents: A national, prospective, one-year controlled study.

BACKGROUND: Health-related quality of life (HRQOL) may improve as an additional benefit of the growth hormone treatment (GHT) in children with short stature, but this effect has not been conclusively proven. OBJECTIVES: To explore the direct effect of GHT on HRQOL in children starting GHT due to isolated or multiple GH deficiency (IGHD), acquired GH deficiency (AGHD) and Turner syndrome (TS), in comparison with untreated short stature controls in 18 UK centres. METHODS: We used recognized measures of HRQOL, the PedsQL, the Strengths and Difficulties Questionnaire and Youth Life Optimism Test scales to investigate the effect of GHT at 0, 6 and 12 months in children and adolescents 6-16 years with IGHD (n = 73) and AGHD (n = 45), and 22 girls with TS. 49 children with non-GHD short stature served as the controls. RESULTS: Children rated their HRQOL better than their parents. Those with IGHD and TS rated their overall HRQOL lower than the controls at baseline, psychosocial scores significantly lower in IGHD. After 12 months, the control and TS groups scored higher than UK norms. Those with AGHD had lowest HRQOL scores at all time points, due to poorer physical functioning. The controls showed the greatest improvement in the strength and difficulties scale. All measures evaluated, whether from child, parent or teacher showed an equal improvement over the year of GHT with no discernible direct treatment effect, despite reduced numbers in some patient groups. CONCLUSIONS: Children with short stature resulting from GHD have lower functioning than controls but HRQOL appears to improve with GHT, most likely on account of greater attention and as a result of the retest phenomenon. We were not able to demonstrate an absolute and independent effect of GHT in itself. HRQOL should not be used as a primary measure, as in adults, to determine whether children should receive GHT.

Family influences on child nutritional outcomes in Nairobi's informal settlements.

BACKGROUND: Improving child nutritional status is an important step towards achieving the Sustainable Development Goals 2 and 3 in developing countries. Most child nutrition interventions in these countries remain variably effective because the strategies often target the child's mother/caregiver and give limited attention to other household members. Quantitative studies have identified individual level factors, such as mother and child attributes, influencing child nutritional outcomes. METHODS: We used a qualitative approach to explore the influence of household members on child feeding, in particular, the roles of grandmothers and fathers, in two Nairobi informal settlements. Using in-depth interviews, we collected data from mothers of under-five children, grandmothers, and fathers from the same households. RESULTS: Our findings illustrate that poverty is a root cause of poor nutrition. We found that mothers are not the sole decision makers within the household regarding the feeding of their children, as grandmothers appear to play key roles. Even in urban informal settlements, three-generation households exist and must be taken into account. Fathers, however, are described as providers of food and are rarely involved in decision making around child feeding. Lastly, we illustrate that promotion of exclusive breastfeeding for 6 months, as recommended by the World Health Organization, is hard to achieve in this community. CONCLUSIONS: These findings call for a more holistic and inclusive approach for tackling suboptimal feeding in these communities by addressing poverty, targeting both mothers and grandmothers in child nutrition strategies, and promoting environments that support improved feeding practices such as home-based support for breastfeeding and other baby-friendly initiatives.

Psychometric properties of the quality of life in short statured youth (QoLISSY) questionnaire within the course of growth hormone treatment.

BACKGROUND: The Quality of Life of Short Stature Youth (QoLISSY) questionnaire is a patient- and parent-reported outcome measure assessing health-related quality of life (HRQOL) in short stature youth. This study evaluates the psychometric properties of the QoLISSY questionnaire within a German prospective trial of short statured children treated with human growth hormone (hGH). METHOD: The instrument was administered to children with idiopathic growth hormone Deficiency (IGHD) and small for gestational age (SGA) before and after 12 month of hGH treatment. Children with idiopathic short stature (ISS) served as a reference group receiving no treatment. Psychometric testing included scale distribution characteristics, reliability (internal consistency), criterion-and convergent validity (correlations with the generic KIDSCREEN-Index, inter-correlations among QOLISSY subscales), known-group validity (treatment status, height SDS), and responsiveness analysis (ability to detect change). RESULTS: One hundred fifty-two parents and 66 children/adolescents completed both HRQOL assessments. The QoLISSY demonstrated good reliability with Cronbach's alpha > .70. Moderate significant correlations between QoLISSY domains and the KIDSCREEN-10 Index supported criterion validity. Statistically significant differences in HRQOL were observed between treatment groups at baseline with children who were about to start treatment reporting a significantly lower HRQOL compared to the children who will not receive treatment. No significant differences were found between the level of short stature based on height SDS scores (≤ - 2 SDS, > - 2 SDS). Furthermore, the instrument detected significant changes in HRQOL between the treated and the untreated group in patient-reports. CONCLUSIONS: In conclusion, the scales showed satisfactory reliability, adequate validity and ability to detect change in self-reported HRQOL within GH treatment. Findings support QoLISSY's further use in clinical trials, offering the opportunity to adequately assess HRQOL from the patients' and caregivers' perspective to improve patient-centered care.

Validation of the Greek version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire.

Background The Quality of Life in Short Stature Youth (QoLISSY) questionnaire is a condition-specific instrument for measuring the health-related quality of life (HRQoL) in short statured children/adolescents from patients' and parents' perspectives. The aim of this study was to investigate the psychometric properties of the Greek version of the QoLISSY questionnaire. Methods The original European QoLISSY scales were translated into Greek following the guidelines for linguistic validation and applied to 184 dyads of children 8-18 years old and their parents, as well as to 14 parents of children 4-7 years old in Greece. The field testing responses to the Greek version of QoLISSY were analyzed. Results The qualitative analysis of the Greek data provided results consistent with the European sample. The subsequent field test showed acceptable internal consistency (Cronbach α between 0.67-0.93) and high test-retest reliability (intraclass correlation coefficients [ICC] ≥0.70). Correlations with the generic KIDSCREEN questionnaire indicated good convergent validity. Confirmatory factor analysis (CFA) also yielded acceptable results. Higher HRQoL for taller children suggests that QoLISSY was able to detect significant height-related differences. Conclusions The Greek version of the QoLISSY questionnaire is psychometrically sound and its use is recommended in further clinical research to ascertain the impact of short stature (SS) and treatments in Greek children/adolescents and families.

Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.

PURPOSE OF REVIEW: Sotos syndrome is among a growing list of disorders resulting from mutations in epigenetic machinery genes. These Mendelian disorders of the epigenetic machinery (MDEMs) exhibit phenotypic overlap broadly characterized by intellectual disability and atypical growth and behaviors. Manifestations of Sotos syndrome include a distinct facial appearance, overgrowth, intellectual disability, and behavioral issues. Herein we review key aspects of Sotos syndrome, focusing on the neurobehavioral phenotype. Additionally, we highlight recent advances in our understanding of molecular pathogenesis implicating epigenetic mechanisms. RECENT FINDINGS: Increasing evidence suggests MDEMs account for ∼19% of intellectual disability and ∼45% of overgrowth combined with intellectual disability, with Sotos syndrome constituting most of the latter. Although the genetic cause of Sotos syndrome, disruption of the histone methyltransferase writer NSD1, is well established, recent studies have further delineated the neurobehavioral phenotype and provided insight into disease pathogenesis. Explicitly, NSD1 target genes accounting for a subset of Sotos syndrome features and a specific DNA methylation signature have been identified. SUMMARY: Sotos syndrome is, therefore, a genetic disorder with epigenetic consequences. Its characteristic neurobehavioral phenotype and those of related MDEMs illustrate the essential role epigenetic mechanisms play in neurologic development. Improvement in our understanding of molecular pathogenesis has important implications for development of diagnostic tests and therapeutic interventions.