Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

PURPOSE: We sought to examine the prevalence of depression and anxiety in adults with skeletal dysplasias, and to assess any correlations with pain. METHODS: Participation was via an anonymous REDCap survey, which consisted of sociodemographic questions followed by the brief pain inventory-short form (BPI-SF), patient health questionnaire-8 (PHQ-8), and generalized anxiety disorder-7 (GAD-7) questionnaires. These assessed pain, depression, and anxiety respectively. RESULTS: Of the 336 usable responses, 16.1% scored 10 or greater on the PHQ-8 consistent with current depression while 17.3% scored 10 or greater on the GAD-7 consistent with current anxiety. The majority of participants (76.2%) experienced pain, which was significantly associated with prior mental health diagnoses (p < 0.05). A total of 34% reported either a prior diagnosis of depression or scored 10 or greater on the PHQ-8, and 31% reported either a prior diagnosis of anxiety or scored 10 or greater on the GAD-7. CONCLUSIONS: This study identified a substantial percentage of individuals with mental health concerns as well as pain in the adult skeletal dysplasia population. Further research is warranted to investigate barriers to service or treatment of mental health disorders as well as pain management.

Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.

INTRODUCTION: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores. METHODS: Members (>18 years) of Little People of America were invited to complete an online survey assessing HRQOL using the SF-12 supplemented with indicator-specific questions. SF-12 components (Physical Component Summary, PCS; Mental Component Summary, MCS) were compared to the standardized national American mean. Scores were divided at the median to identify factors associated with lower scores using multivariable logistic regression, adjusting for age, gender, race, education, and employment. RESULTS: A total of 189 surveys were completed. Mean and median PCS and MCS were below the national mean of 50 (p < 0.001). Advancing decade of age corresponded to a significant decline in PCS (p < 0.001) but not MCS (p = 0.366). Pain prevalence was high (79.4%); however, only 5.9% visited a pain specialist. Significant factors for lower PCS included age >40 years (p = 0.020), having spondyloepiphyseal dysplasia congenita (SED) or diastrophic dysplasia relative to achondroplasia (p = 0.023), pain (p < 0.001), and "partial" versus "full" health insurance coverage (p = 0.034). For MCS, significant factors included a lack of social support (p = 0.002) and being treated differently/feeling stigmatized by health care providers (p = 0.022). CONCLUSIONS: Individuals with SD face documented disparities and report lower HRQOL. Further research and interventions are needed to modify nuanced factors influencing these results and address the high prevalence of pain.

A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.

A 38-year-old Japanese man with Nasu-Hakola disease (NHD) had repeated pathological fractures and frontal lobe symptoms which developed when he was 18 and 26 years old, respectively. Neuropsychological testing showed memory impairment, and in particular, visuo-spatial memory at the age of 35. Furthermore, single-photon emission computed tomography revealed precuneus hypoperfusion. The patient later suffered prolonged convulsive seizures, which left him in a persistent vegetative state. Genetic testing confirmed a heterozygous mutation in the DAP12 gene (a single-base deletion of 141 G in exon 3) specific to NHD. Precuneus dysfunction might contribute to characteristic memory impairment of NHD.

Anorexia nervosa and obsessive-compulsive disorder in a prepubertal patient with bone dysplasia: a case report.

OBJECTIVE: The current article describes the case of a 13-year-old girl with body dysplasia, anorexia nervosa, and obsessive-compulsive disorder (OCD). METHOD: She was given cognitive-behavioral therapy and pharmacologic treatment for the obsessive-compulsive symptomatology and exogenous growth hormone to increase her height. RESULTS: She experienced an adequate weight and height increase and remission of obsessive-compulsive symptomatology, and reestablished adequate social and academic functioning. CONCLUSION: After a follow-up of almost 2 years, she had had her menarche, continued her positive eating habits, and had not relapsed into OCD.

Relationships between leg disorders and changes in the behaviour of broiler chickens.

The relationships between the severity of lameness, the presence of tibial dyschondroplasia, and the frequency of dustbathing behaviour and duration of tonic immobility were studied in 96 broiler chicks kept from day-old in groups of four in wire-floored cages. Dustbathing was observed when the birds were given access for one hour to a tray containing sand or straw. The duration of tonic immobility and the severity of lameness were scored during weeks 3, 4, 5 and 6. After slaughter at 41 or 45 days of age the birds were examined for tibial dyschondroplasia; 34 birds were classified as having tibial dyschondroplasia and 54 had detectable lameness problems. Birds with tibial dyschondroplasia had a higher lameness score (P < 0.001), dustbathed on fewer days (P < 0.0001), and had longer periods of tonic immobility (P < 0.03) at six weeks than birds which did not have the condition. However, almost all the chicks, including those with tibial dyschondroplasia dustbathed on day 27 after they had not been given access to the tray for three days, significantly more than on days when they had not been deprived of the tray (P < 0.0001). Furthermore, lame birds and birds with tibial dyschondroplasia also dustbathed less with age. Studies of the vertical wing-shaking element of dustbathing confirmed that tibial dyschondroplasia reduced dustbathing (P < 0.05) and also showed that during the one-hour tests, sand resulted in more dustbathing than straw (P < 0.01).

Health-related quality of life in patients with diastrophic dysplasia.

Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and normal mental status. The health-related quality of life (HRQOL) of patients with DD was measured by a standardized fifteen-dimensional (15D) method, that includes a questionnaire and a valuation task. Eighteen patients (5 males and 13 females) with a mean age of 23 years (range 17-31 years), representing half of the Finnish patients with DD in this age group, completed the questionnaire and the valuation task. The data obtained were compared with those of 273 age- and sex-matched controls. A 15D profile was drawn, and the average importance weight of each dimension and the average within-dimension level values were calculated for both groups. The average 15D score, describing the overall HRQOL, was derived for both groups using the evaluations of each group. The health profiles of the groups differed significantly in several dimensions. When the health levels within the dimensions were concerned, the controls rated all values deviating from "normal" lower than did the patients. The average 15D scores of the patients with DD were significantly lower than those of the controls. The 15D scores were higher in both groups when the evaluations of the patients with DD were used. The study showed that, although the overall HRQOL of the patients with DD was inferior to that of the controls, the patients showed greater adaptability to deviations in health status than did the controls.

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.

Health-related quality of life of patients with genetic skeletal dysplasias.

UNLABELLED: While medical knowledge on genetic skeletal dysplasias has expanded, very little is known about the patients' health-related quality of life (HRQOL). To test the validity and sensitivity of the fifteen and sixteen dimensional measures of HRQOL in patients with chondrodysplasias, we examined 121 adults aged 16-54 and 19 adolescents aged 12-15 with achondroplasia, cartilage-hair hypoplasia and diastrophic dysplasia. The age and sex standardized overall HRQOL score of the adult patients (0.885 on a scale from 0 to 1) was significantly lower than that of normal controls (0.928) (P < 0.001). The difference in the HRQOL between the patients and the controls consisted mainly of the differences in dimensions of mobility, usual activities, sexual activity and discomfort, for which the patients reported a significantly lower status (more problems) than the controls (P < 0.001). Adolescent patients demonstrated HRQOL profiles similar to those of adults. However, age-specific problems occurred on the dimensions of school and hobbies, friends and physical appearance (P < 0.05). In a detailed examination of different patient groups, some clinically unexpected findings were observed, suggesting that denial is at least in part involved. CONCLUSION: Subjective assessment of HRQOL of patients with chondrodysplasias is valuable for provision of optimal care. In treatment and management special attention should be paid to those dimensions on which the patients' perceived status is currently suboptimal, especially during adolescence which probably is the most critical period in the lives of these individuals.

Quality of life in early adolescence: a sixteen-dimensional health-related measure (16D).

While data on the health-related quality of life (HRQOL) of adults are accumulating, very little is known about the HRQOL--and especially the perceived HRQOL--of children. In our study we introduced a 16-dimensional, generic self-assessment measure of HRQOL (16D) for early adolescents, and demonstrated its use with four populations of children aged 12-15: (1) 239 normal schoolchildren, (2) patients waiting for organ transplantation (n = 5), (3) patients with genetic skeletal dysplasias (n = 19), and (4) patients with epilepsy (n = 32). The HRQOL 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 91%. The quality of life ratings of the healthy boys and their parents differed on the dimensions of distress, vitality, speech, mental function, and discomfort and symptoms (p < 0.05). In addition, there were significant differences in the health-related valuations between the girls, boys and their parents. We conclude that the assessment of quality of life of adolescents should be based on data collected from the adolescents themselves. Further, the 16D is so far the only generic HRQOL measure designed specifically for this purpose. It is capable of differentiating the HRQOL of healthy adolescents as well as patients with various diagnoses. Our experience also indicates that it is easy to use, yet it seems comprehensive, reliable, and valid.

Psychological characteristics of children with Shwachman syndrome.

Twelve children and young adults with Shwachman syndrome were compared with their unaffected siblings and with controls suffering from cystic fibrosis in terms of intellectual ability, motor skills, and behaviour. There were highly significant differences in intelligence quotient between those with Shwachman syndrome and the other two groups. Four of the index subjects but none of the control subjects were below the normal range. The differences between groups on other tests of cognitive and motor skills were not significant, though those with Shwachman syndrome tended to have the lowest scores. There was no evidence that those with Shwachman syndrome had more behavioural difficulties than the control subjects. We suggest that the intellectual difficulties of patients with Shwachman syndrome may be of neurological rather than social origin and that they may originate before birth.