Is height important for quality of life in children with skeletal dysplasias?

Skeletal dysplasias are a large and heterogeneous group of conditions that affect growth and development of the skeleton. As might be expected, short stature is a frequent manifestation of these disorders but other complications do occur with varying frequencies depending on specific diagnosis and age of the patient. With the ongoing development of targeted therapies for achondroplasia and possibly other skeletal dysplasias, it is important to ascertain what are the factors influencing quality of life if we are to make meaningful assessments of therapeutic efficacy. Is it the short stature, in and of itself, that affects the quality of life for children with skeletal dysplasias or are the other complications more important determinants? We sought to address the effect of height by the use of questionnaire designed specifically for short stature; QoLissy. This questionnaire has been validated for use in Europe across several languages. Our study included 8 families with children between 8 and 18 years with a variety of skeletal dysplasia diagnoses. The results indicate a relatively low health-related quality of life from the child and parents' perspective, good coping strategies and, interestingly, a difference in perception of quality of life between parents and children, with parents rating the quality of life lower than their children. These results highlight the need for a more careful dissection of quality of life-influencers before deciding on how to assess drug efficacy and before advocating for multi-year therapy in children.

Exploring the behavioral and cognitive phenotype of KBG syndrome.

KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, the behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties. A total of 18 patients with KBG syndrome and a control group consisting of 17 patients with other genetic disorders with comparable intelligence levels, completed neuropsychological assessment. Age-appropriate tasks were selected, covering overall intelligence, attention, memory, executive functioning, social cognition and visuoconstruction. Results were compared using Cohen's d effect sizes. As to behavior, fewer difficulties in social functioning and slightly more attentional problems, hyperactivity, oppositional defiant behavior and conduct problems were found in the KBG syndrome group. Regarding cognitive functioning, inspection of the observed differences shows that patients with KBG syndrome showed lower scores on sustained attention, cognitive flexibility, and visuoconstruction. In contrast, the KBG syndrome group demonstrated higher scores on visual memory, social cognition and emotion recognition. The cognitive profile of KBG syndrome in this sample indicates problems in attention and executive functioning that may underlie the behavior profile which primarily comprises impulsive behavior. Contrary to expectations based on previous (case) reports, no deficits were found in social cognitive functioning. These findings are important for counseling purposes, for tailored education planning, and for the development of personalized intervention.

Perioperative Interdisciplinary Intervention Contributes to Improved Outcomes of Adolescents Treated With Hip Preservation Surgery.

BACKGROUND: Adolescent hip preservation surgery (HPS) candidates typically present with chronic pain, which can negatively affect psychological function and surgical outcomes. A previous study demonstrated high rates of psychological symptoms and maladaptive behaviors in this population. This study quantified psychological and functional improvements in these patients from preoperative presentation to postoperative follow-up. An integrated interdisciplinary approach is also described. METHODS: A total of 67 patients undergoing HPS were evaluated preoperatively and postoperatively at 1 year by staff psychologists. Perioperative psychological intervention consisted of education, counseling, and administration of self-report measures. Self-report measure scores were compared preoperatively and postoperatively, grouped by orthopaedic diagnoses. Frequency analysis, correlational analysis, and analysis of variance were conducted. RESULTS: Psychological function improved significantly at follow-up: decreased emotional symptomatology (46.1 to 43.6, P=0.013), anxiety (49.6 to 45.8, P<0.001), school problems (46.6 to 44.7, P=0.035), internalizing problems (46.3 to 44.1, P=0.015), social stress (44.5 to 42.3, P=0.024), sense of inadequacy (49.0 to 46.0, P=0.004), and increased self-concept (51.1 to 54.1, P=0.003). Resiliency factors also significantly improved: increased mastery (50.3 to 52.9, P=0.001) and resourcefulness (49.7 to 52.0, P=0.046), decreased emotional reactivity (46.3 to 42.9, P=0.001), and vulnerability (47.7 to 44.7, P=0.011). Physical function and return to activity also significantly improved (University of California-Los Angeles: 7.1 to 8.7, P=0.017; modified Harris Hip Score: 67.3 to 83.8, P<0.001). Return to activity positively correlated with optimism and self-efficacy (P=0.041). Femoroacetabular impingement and hip dysplasia patients consistently reported feeling less depressed (P=0.036), having fewer somatic complaints (P=0.023), fewer internalized problems (P=0.037), and exhibiting fewer atypical behaviors (P=0.036) at follow-up. Slipped capital femoral epiphysis patients did not demonstrate improvements in psychological functioning postoperatively. CONCLUSIONS: Perioperative psychological education and counseling, in combination with HPS, improved postoperative psychological and physical function. Patients reported reduced anxiety, school problems, and social stress, with marked increase in resilience. Increased mobility and return to activity significantly correlated with improved optimism and self-efficacy. LEVEL OF EVIDENCE: Level II-therapeutic studies-investigating the results of treatment.

Adolescents and Young Adults with Chronic or End-Stage Kidney Disease.

BACKGROUND: Adolescents and young adults face unique and complex physical, psychological, and family challenges. Despite improvements in care for chronic kidney disease (CKD) and end-stage kidney disease (ESKD), long-term mortality for children, adolescents, and young adults with CKD remains substantially higher than their healthy counterparts. SUMMARY: In this article, we discuss the complex challenges that adolescent and young adult CKD/ESKD patients face. Adolescents have different CKD etiologies and progress along a course dissimilar to the adult population, but have similar multifarious comorbidities. In the setting of puberty and learning to become self-sufficient, adolescence is a critical time for growth and psychosocial development. Physiological complications of CKD underlie many of the long-term outcomes. CKD-mineral and bone disorder and anemia are particularly challenging given that they are exacerbated by the rapid growth of adolescents. Endocrine imbalances and malnutrition can delay and limit growth. All of these factors, together with family dynamics and socioeconomic status, contribute to the poor long-term outcomes and decreased quality of life (QoL) for these patients and their families. KEY MESSAGES: Care for the adolescent CKD/ESKD population is uniquely challenging, but research has identified ways in which we can continue to improve long-term outcomes and QoL for adolescents with CKD/ESKD.

Typical action perception and interpretation without motor simulation.

Every day, we interact with people synchronously, immediately understand what they are doing, and easily infer their mental state and the likely outcome of their actions from their kinematics. According to various motor simulation theories of perception, such efficient perceptual processing of others' actions cannot be achieved by visual analysis of the movements alone but requires a process of motor simulation--an unconscious, covert imitation of the observed movements. According to this hypothesis, individuals incapable of simulating observed movements in their motor system should have difficulty perceiving and interpreting observed actions. Contrary to this prediction, we found across eight sensitive experiments that individuals born with absent or severely shortened upper limbs (upper limb dysplasia), despite some variability, could perceive, anticipate, predict, comprehend, and memorize upper limb actions, which they cannot simulate, as efficiently as typically developed participants. We also found that, like the typically developed participants, the dysplasic participants systematically perceived the position of moving upper limbs slightly ahead of their real position but only when the anticipated position was not biomechanically awkward. Such anticipatory bias and its modulation by implicit knowledge of the body biomechanical constraints were previously considered as indexes of the crucial role of motor simulation in action perception. Our findings undermine this assumption and the theories that place the locus of action perception and comprehension in the motor system and invite a shift in the focus of future research to the question of how the visuo-perceptual system represents and processes observed body movements and actions.

A life-course perspective on stigma-handling: resilience in persons of restricted growth narrated in life histories.

PURPOSE: The aim of the study is to explore how personal and contextual experiences throughout the life course are recollected as having influenced the development of stigma-handling strategies among people associated with disability and stigma. The article describes the development of stigma handling among ageing persons of restricted growth in order to avert negative effects, develop resilience, strengthen the self and support a positive identity. METHOD: Qualitative retrospective interviews were conducted with ten persons - seven women and three men aged between 45 and 65 years - of short stature. Their narratives are analysed from a life-course perspective and the results presented under two main themes: the development of strategies during different stages of life, and the use of general non-stage-bound strategies. RESULTS: The study shows how stigma-handling has evolved from childhood to become, by adult years, refined, contextualised strategies demonstrating human resilience. The analysis documents the impact of human agency on personal lives and the subjects' efforts and strengths in handling adversity. CONCLUSION: The results demonstrate how the "insider perspective" reveals the individual's resources, resilience and strategies and provides an important perspective for the rehabilitation setting. Implications for Rehabilitation The study document human agency, resilience and strength in a life course perspective among people of restricted growth faced with stigmatization. The efforts and stigma handling strategies developed during the life course, such as withdrawal, humour, ignoring and positive thinking, are important tools to be recognized with relevance for other patient groups. The "insider perspective" revealing the potentialities and strength of human agency and resilience, should be further explored within the field of rehabilitation.

Bracing in pediatric patients with pectus carinatum is effective and improves quality of life.

PURPOSE: The purpose of this study was to examine the effectiveness and patient satisfaction with bracing for pectus carinatum (PC). MATERIALS AND METHODS: Twenty-five PC patients were treated between August 2007 and October 2011. Most patients were male (21/25,84%) with a mean age of 14.4 ± 2.0 yrs. A lightweight, patient controlled, external brace (Braceworks, Calgary, AB) was used. Monthly follow-up with anterior-posterior (AP) width measurements occurred until bracing was completed. Three quality of life (QOL) questionnaires were used: SF-36, SSQ, and PEEQ. RESULTS: Group 1 involved twenty patients who successfully completed bracing (12/25,56%) or who are still bracing (8/25,32%). Group 2 comprised five patients who failed bracing (2/25,8%) or who were noncompliant (3/25,12%). One patient who failed bracing underwent successful Ravitch repair. AP width decreased more in those with successful bracing (2.31 vs 0.64 cm, p=0.05). Questionnaires were completed by 19/25 (76%) patients. Pre-bracing, the SF-36, and PEEQ revealed that few patients were symptomatic, although most still avoided activities which showed their chest. The SSQ revealed that the majority of patients were very satisfied with their post-bracing appearance, experienced minimal discomfort while bracing, and would use the brace again. Self-esteem increased significantly after bracing (7.5 vs 8.7, p=0.01). CONCLUSIONS: Bracing in PC patients is very effective in a compliant patient with close follow-up. Surgical repair remains feasible if bracing fails.

Quality of life of patients who have undergone the minimally invasive repair of pectus carinatum.

OBJECTIVES: Several studies previously demonstrated an improvement in the quality of life (QoL) of the patients undergoing a minimally invasive repair of pectus excavatum, but there are no data about such improvement following the minimally invasive repair of pectus carinatum (PC) deformity. The purpose of this study was to investigate the effects of the minimally invasive repair of PC deformity on the psychosocial and physical functioning of the patients. METHODS: Among 40 patients who underwent minimally invasive repair for PC deformity from July 2008 to March 2011, 35 patients accepted to answer the QoL questionnaires, and 30 of them who had completed the postoperative 6th month were evaluated in this study. The modified two-step Nuss questionnaire was used for the QoL assessment. All patients and their parents completed the appropriate questionnaires regarding the patients' preoperative psychosocial and physical functioning, and they were asked to answer the same questions on the postoperative 6th month. The results from these questionnaires were analysed using Wilcoxon signed rank test to investigate the effects of the minimally invasive repair of PC deformity on psychosocial and physical functioning of the patients. RESULTS: The questionnaires used in the study confirmed the positive impact of the surgical correction on psychosocial and physical well-being in the patients and their parents. Spearman's ρ correlation coefficient determined how well the answers to the same question at two different times correlated with each other, and Cronbach's alpha demonstrated the internal consistency of these answers. These two parameters showed that the statistical results of the study were reliable enough. Statistical analysis of the scoring of the individual questions and the total scoring of individual patients revealed a statistically significant improvement (P < 0.05) following surgery. Similar significant improvements were observed in the total scoring of individual parents and in most scoring of the individual questions (10 of 13, 77%) in the parental questionnaire (P < 0.05). CONCLUSIONS: The results of this study confirm for the first time that minimally invasive repair of PC deformity has a positive impact on both psychosocial and physical functioning of the patient, which is supported by parental assessment.

Pilot evaluation of anterior dynamic ultrasound screening for developmental dysplasia of the hip in an Australian regional hospital.

INTRODUCTION: Developmental Dysplasia of the Hip (DDH) is the most common notifiable musculoskeletal birth defect in South Australia (SA). Despite routine screening by physical examination of the hips in the neonatal period and at 6 weeks of age, the risk of late diagnosis is increased in rural areas. It is assumed this is due to the examining doctors' reduced clinical expertise. Introducing Anterior Dynamic Ultrasound (ADUS) has reduced the late detection rates in Sweden to almost zero, and may benefit Australian infants in rural areas if routine screening was introduced. This study reports on a small implementation pilot in a SA regional hospital where volunteer postnatal mothers consented to their babies having ADUS examinations. METHODS: The pilot was evaluated by collecting results of physical examination, ADUS, and surveying parental impressions of the screening test. RESULTS: Hips of 86 infants underwent ADUS during the implementation pilot. Parents' perceptions were mainly very positive and indicated ADUS was an accessible and acceptable screening test. Of the hips scanned, three were found to have maximum movement of the femoral head of >3 mm and were deemed to demonstrate increased laxity. Four hips described as loose or mobile on clinical examination were found to be within normal limits of maximum mobility on ADUS. CONCLUSIONS: This study has demonstrated that a larger scale implementation project would be feasible in regional Australia, and would enable researchers to better understand how to reduce the late diagnosis rate of DDH in rural areas.

Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.

BACKGROUND: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients. METHODS: Information on development, behavioural characteristics, autism symptoms, and adaptive and psychological functioning of six MSS children was collected through in-person examinations, questionnaires, semi-structured interviews of parents and neuropsychological assessments. RESULTS: Participants showed moderate to severe delays in mental age, motor development and adaptive functioning, with several similarities in communication, social interactions and behaviour. There was severe delay of speech and motor milestones, a friendly or happy demeanour and enjoyment of social interactions with familiar others. They exhibited minimal maladaptive behaviours. Deficits in communication and social interactions, lack of reciprocal social communication skills, limited imaginary play and the occurrence of stereotyped, repetitive behaviours were noted during assessments. CONCLUSIONS: Systematic collection of developmental and behavioural data in very rare entities such as MSS allows recognition of specific patterns in these qualities. Clinical recognition of physical,developmental and behavioural features is important not only for diagnosis, prognosis and counselling of families, but also increases our understanding of the biological basis of the human physical and behavioural phenotype.

Impact of neurofibromatosis 1 upon quality of life in childhood: a cross-sectional study of 79 cases.

BACKGROUND: Neurofibromatosis 1 (NF1) has a significant impact on quality of life (QoL). OBJECTIVES: To evaluate QoL in NF1 according to phenotype from the viewpoint of children and proxy. METHODS: One hundred and forty families with a child aged between 8 and 16 years, seen consecutively at the National Academic Paediatric Referral Centre for NF1 for a phenotype evaluation, were contacted by mail. Families agreeing to participate were sent two questionnaires, the DISABKIDS for children and proxy and the cartoon version of the Children's Dermatology Life Quality Index (CDLQI). QoL scores were compared with those in other major diseases and were analysed according to age, gender and phenotype. RESULTS: Eighty families agreed to participate, and 79 returned the questionnaires. Using DISABKIDS, NF1 had a higher impact on health-related QoL than asthma (mean+/-SD 75.18+/-18.22 vs. 79.78+/-13.41; P=0.005). The total score was more altered when assessed by proxy than by children (71.20+/-17.94 vs. 75.18+/-18.22; P=0.002). Orthopaedic manifestations, learning disabilities and presence of at least two plexiform neurofibromas were independently associated with a higher impact (P<0.01). The CDLQI score was slightly altered (11.3%). Dermatological signs, such as café-au-lait spots and freckling, did not have a significant impact. CONCLUSIONS: Orthopaedic manifestations, learning disabilities and plexiform neurofibromas are the main complications impacting on QoL during childhood NF1. QoL could be considered as an endpoint for intervention studies in this context.

Perceptions of the outcome of orthopedic surgery in patients with chondrodysplasias.

As part of a larger survey of patients with chondrodysplasias, 197 patients or their parents were asked whether they had undergone orthopedic surgery related to their chondrodysplasia and, if so, to rate their impression of the outcome. Seventy-four patients (37.6%) had undergone a total of 152 procedures (221 if concurrent bilateral operations are counted separately). The percentage of patients treated surgically ranged from a low of 8.3% for hypochondroplasia to a high of 87.5% for diastrophic dysplasia. Of the patients who had surgery, the mean number of procedures per patient ranged from 1.0 for hypochondroplasia to 2.69 for pseudoachondroplasia. Of 180 individual procedures related to the limbs, the outcome in 88.8% was judged 'a bit better' or higher and in 68.8% 'much better' or higher. The responses ranged from a low of 70.4 and 66.7%, respectively for proximal femoral osteotomies to a high of 100 and 85.9% for hip replacement. The comparable figures for spine related surgery were 81.8 and 48.5% with a low of 58.3 and 50.0% for foramen magnum-cervical surgery and a high of 93.8 and 43.8% for thoracolumbar procedures. The expressed perception of lack of satisfaction varied not only by procedure but by diagnosis. Overall, patients perceived a high level of post-surgical improvement, although a number experienced subsequent deterioration and the need for further intervention.

Quality of life in pre-adolescence: a 17-dimensional health-related measure (17D).

Although interest in the health-related quality of life (HRQOL) of children has increased in the last years, validated methods for assessing the HRQOL- and especially the perceived HRQOL-of children have been missing. We introduced a 17-dimensional, illustrated, generic measure of perceived HRQOL (17D) for pre-adolescents, and demonstrated its application to three populations of children aged 8-11 years: (1) 244 normal schoolchildren; (2) 22 patients surviving organ transplantation and (3) 10 patients with genetic skeletal dysplasias. The HRQOL scores and profiles of the patients differed significantly according to the diagnosis, giving support to its construct validity. The reliability of the measure was high: its repeatability coefficient was 95%. As a structured interview of 20-30 minutes, the measurement burden is reasonable. We conclude that the assessment of quality of life of pre-adolescents can and should be based on data collected from the children themselves. Our initial experience indicates that 17D is comprehensive, reliable, and valid.

The association between Coffin-Lowry syndrome and psychosis: a family study.

This paper discusses a family presenting with features of Coffin-Lowry syndrome, namely abnormal facies, skeletal abnormalities and mental handicap. Two of the mildly affected females had psychotic illness with predominant depressive features, and all the severely affected males had profound sensorineural deafness.

[Good things come in small packages? Psychosocial aspects of small stature]. / Klein maar fijn? De psychosociale aspecten van een kleine gestalte. Nederlandse werkgroep 'Psycholen en Groeihormoon'.

Short stature is considered as a social disadvantage. This review deals with the findings of studies on cognitive and socio-emotional functioning in children with growth hormone deficiency, constitutional short stature, Turner syndrome, skeletal dysplasias and chronic illnesses. The consequences of short stature in adulthood are also described. The short term effect of growth hormone treatment on psychosocial functioning appears positive, but long term results have to be awaited before conclusions can be drawn.

Psychosocial reactions in the spouses of patients suffering polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL) is a rare hereditary disease affecting both brain and bones. Skeletal symptoms begin in early adulthood and neuropsychiatric symptoms at approximately age 30. Progressive dementia associated with an accentuated frontal lobe syndrome handicaps the patients. The author describes inadequate psychosocial reactions of the spouses of 21 Finnish PLO-SL patients. The reactions included rejection and divorce in 8 cases and rejection without divorce in 1 case. Jealousy, violence, and alcoholism were common in male spouses. The author suggests that some of the spouses' negative psychosocial reactions may be lessened if the family is informed early about the nature of the disorder.

Kyphomelic dysplasia.

A case of kyphomelic dysplasia is reported in a boy followed up over three years. The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspondyly. The good prognosis regarding motor and intellectual development in this condition is stressed and the association with cleft lip and palate is described for the first time.

Concepts of illness and perception of control in healthy children and in children with chronic illnesses.

Healthy children, children with seizure disorders, and children with orthopedic conditions, ranging in age from 5 to 16 years old, were questioned about their knowledge of disease etiology, treatment, and prevention, and their health locus of control beliefs, to explore the relationship between illness-related concept attainment and perceived control over health. Children who perceived greater personal control over health demonstrated a more sophisticated conceptual understanding of disease than did children with a more external orientation. Healthy children scored significantly higher on the illness concepts questions and expressed significantly more internal health locus of control beliefs than did their peers with a chronic physical illness. Perceived control over health appears to be one factor that mediates the relationship between illness experience and understanding.