Automated radiogrammetry is a feasible method for measuring bone quality and bone maturation in severely disabled children.

BACKGROUND: Children with severe neurological impairment and intellectual disability are prone to low bone quality and fractures. OBJECTIVE: We studied the feasibility of automated radiogrammetry in assessing bone quality in this specific group of children. We measured outcome of bone quality and, because these children tend to have altered skeletal maturation, we also studied bone age. MATERIALS AND METHODS: We used hand radiographs obtained in 95 children (mean age 11.4 years) presenting at outpatient paediatric clinics. We used BoneXpert software to determine bone quality, expressed as paediatric bone index and bone age. RESULTS: Regarding feasibility, we successfully obtained a paediatric bone index in 60 children (63.2%). The results on bone quality showed a mean paediatric bone index standard deviation score of -1.85, significantly lower than that of healthy peers (P < 0.0001). Almost 50% of the children had severely diminished bone quality. In 64% of the children bone age diverged more than 1 year from chronological age. This mostly concerned delayed bone maturation. CONCLUSION: Automated radiogrammetry is feasible for evaluating bone quality in children who have disabilities but not severe contractures. Bone quality in these children is severely diminished. Because bone maturation frequently deviated from chronological age, we recommend comparison to bone-age-related reference values.

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.

Klinefelter syndrome is a chromosomal disorder in which one extra X chromosome is present (47,XXY). Several other numeric variants of this syndrome are described that comprise one or more additional sex chromosomes such as 48,XXXY, 48,XXYY and 49,XXXXY. These rare conditions are often associated with increased risk for congenital malformations, additional medical problems, and a more complex psychological phenotype. Since 1963, apart from two infants, only four adult patients with a XXXYY pentasomy have been published as case report. The present paper critically reviews the existing literature and provides detailed assessments of a 25-year-old male with intellectual disability and autism. For the first time, this very rare pentasomy is now recorded using all information about developmental history as well as findings from genetic, somatic, endocrinological and neuropsychological examination. It is concluded that children born with abnormalities of the external genitalia should always be evaluated for genetic abnormalities in order to avoid unwanted delay of appropriately designed multidisciplinary medical and psychological treatment.

Prevalence and incidence of vertebral fractures: a 7-year follow-up study in institutionalized adults with refractory epilepsy and intellectual disability.

OBJECTIVE: The main objective of this cohort study is to determine the prevalence and incidence of morphometric vertebral fractures (VFs) over 7 years follow-up, in institutionalized adults with refractory epilepsy and intellectual disability (ID). METHODS: Dual-energy X-ray Absorptiometry (DXA) and Vertebral Fracture Assessment (VFA) were performed in 2009 and 2016. Vertebrae T4-L4 were assessed using quantitative morphometry. Severity of VFs was graded as 1 (mild; 20-25% reduction in height), 2 (moderate; 25-40% reduction) or 3 (severe; >40% reduction) according to the method described by Genant. Prevalent VFs were analyzed at baseline. VFs (grade 1, 2 or 3) present at follow-up, but not at baseline, were considered new VFs. Worsening VFs were defined as VFs with at least one grade deterioration at follow-up, compared to baseline (grade 1 to 2 or 3, or grade 2 to 3). Patients were treated with anti-osteoporosis treatment according to the Dutch guideline. RESULTS: Baseline and follow-up DXA and VFA could be obtained in 141 patients (87 male) aged between 18-79 years old (mean 44.8 ± 15.7). At baseline, 56 patients had at least one prevalent VF. Patients with a prevalent VF were significantly older than patients without (49.2 ± 13.7 vs 41.9 ± 16.4, p < .01). After 7 years follow-up, 38 new VFs occurred in 27 patients and 15 patients had a worsening VF, leading to an overall cumulative incidence of 27.0%. VF incidence was significantly higher in patients with at least one prevalent VF at baseline (48.2% vs 12.9%, respectively, p < .01) compared to no VF. SIGNIFICANCE: In adults with refractory epilepsy VFA is challenging, due to physical and behavioral aspects, resulting in a substantial proportion of unevaluable vertebrae and scans. Nevertheless, 40% of the patients had a VF at baseline and after 7 years follow-up, 27% had at least one new and/or worsening VF despite adequate anti-osteoporosis treatment.

Epidemiology of low bone mineral density and fractures in children with severe cerebral palsy: a systematic review.

AIM: Children with severe cerebral palsy (CP) are at risk for developing low bone mineral density (BMD) and low-impact fractures. The aim of this study was to provide a systematic literature review of the epidemiology of fractures and low BMD in children with severe CP, with an emphasis on risk factors. Gross Motor Function Classification System (GMFCS) levels IV and V were criteria for severe cerebral palsy. METHOD: The literature (PubMed) was searched and eligible studies were given a level of evidence score using the Scottish Intercollegiate Guidelines Network criteria. RESULTS: Seven studies were found concerning epidemiology of fractures, 11 studies described epidemiology of low BMD, and 14 studies concerned risk factors. The methodological quality of most of these studies was poor. Five studies were considered well-conducted with low risk of confounding and bias. In these studies, the incidence of fractures in children with moderate to severe CP approached 4% per year, whereas the prevalence of low BMD in the femur was 77%. Limited ambulation, feeding difficulties, previous fractures, anticonvulsant use, and lower body fat mass were associated with low BMD z-scores. INTERPRETATION: There is only a limited amount of high-quality evidence on low BMD and fractures in children with severe CP.

Prospective evaluation of clinical assessment in the diagnosis and treatment of clavicle fracture: Are radiographs really necessary?

INTRODUCTION: Current recommended treatment for middle-third clavicle fractures is limited to the use of ice, analgesics, a sling, and rest. Radiography for these fractures would be superfluous if physicians could accurately identify them by clinical examination alone. The primary purpose of this study was to determine whether emergency physicians can accurately diagnose clavicle fractures, and whether they can differentiate middle-third fractures from medial- or lateral-third fractures by clinical assessment alone. METHODS: We enrolled a convenience sample of patients who presented to our rural emergency department with possible clavicle fracture between Nov. 1, 2001, and Apr. 30, 2002. Prior to viewing radiographs, physicians scored their clinical certainty of diagnosis on a 10-cm visual analogue scale. When certain of fracture, physicians determined the location of the fracture, the nature of the fracture and their hypothetical comfort in treating the injury without radiography. RESULTS: In 51 of 77 enrolled patients (66%; 95% confidence interval [CI], 54.6%-76.6%), treating physicians were certain of the diagnosis of clavicle fracture prior to radiography. In these 51 cases, radiography revealed a fracture in 50 cases (98.0%; 95%CI, 89.6%-99.9%). The physicians were 100% accurate for 4 fractures clinically identified as lateral-third fractures (95% CI, 39.7%-100%) and for 41 fractures identified as middle-third fractures (95% CI, 91.4%-100%). They were correct on only 1 of 5 injuries (20%; 95% CI: 1%-72%) they clinically identified as medial-third fractures. Despite high clinical accuracy with middle-third fractures, they stated in 27 of 42 cases (64%; 95%CI, 48.0%-78.5%) that they would have been uncomfortable treating the patient without a radiograph. CONCLUSIONS: This study provides evidence that experienced emergency physicians are highly accurate when they are clinically certain of clavicle fracture. Further, when emergency physicians do clinically diagnose clavicle fracture, they can accurately identify the patient subgroup that will be responsive to conservative treatment. Routine radiography of obvious middle-third clavicle fractures does not appear to improve diagnostic accuracy or treatment decisions.

Focused abdominal ultrasound for blunt trauma in an emergency department without advanced imaging or on-site surgical capability.

OBJECTIVES: To determine whether focused abdominal sonogram for trauma (FAST) in a rural hospital provides information that prompts immediate transfer to a tertiary care facility for patients with blunt abdominal trauma who would otherwise be discharged or held for observation. METHODS: Prior to the study, participating emergency physicians underwent a minimum of 30 hours of ultrasound training. All patients who presented with blunt abdominal trauma to our rural hospital between Mar. 1, 2002, and Apr. 30, 2003, were eligible for study. Following a history and physical examination, the emergency physician documented his or her disposition decision. A FAST was then performed, and the disposition reconsidered in light of the FAST results. RESULTS: Sixty-seven FAST exams were performed on 65 patients. Three examinations (4.5%) were true-positive (95% confidence interval [CI] 0.9%-12.5%); 60 (89.6%) were true-negative (95% CI 79.7%-95.7%), 4 (6%) were false-negative (95% CI 1.7%-14.6%) and none (0%) were false-positive (95% CI 0%-5.4%). These values reflect sensitivity, specificity, negative predictive value and positive predictive values of 43%, 100%, 94% and 100% respectively. FAST results did not alter the decision to transfer any patient (0%: 95% CI 0.0%-5.4%), although one positive FAST may have led to an expedited transfer. One of 38 patients who was discharged after a negative FAST study returned 24 hours later because of worsening symptoms, and was ultimately found to have splenic and pancreatic injuries. CONCLUSIONS: This study failed to demonstrate that FAST improves disposition decisions for patients with blunt abdominal trauma who are evaluated in a hospital without advanced imaging or on-site surgical capability. However, the study is not sufficiently powered to rule out a role for FAST in these circumstances, and our data suggest that up to 5.4% of transfer decisions could be influenced by FAST. Rural emergency physicians should not allow a negative FAST study to override a clinical indication for transfer to a trauma centre; however, positive FAST studies can be used to accelerate transfer for definitive treatment.

[Fragile from an early age: osteoporosis in a child with multiple severe disabilities]. / Breekbaar vanaf jonge leeftijd: osteoporose bij een kind met ernstige meervoudige beperkingen.

BACKGROUND: In the general population osteoporosis and low impact fractures occur mainly in the elderly and in people at increased risk due to disorders. In children with severe intellectual impairment and multiple disabilities severe osteoporosis and fractures of the long bones may be present from an early age. CASE DESCRIPTION: We describe a case of a 14-year-old girl with Dravet syndrome and multiple low impact fractures arising from minimal or unknown trauma. CONCLUSION: In children with severe intellectual impairment and multiple disabilities the optimizing of bone quality and peak bone mass in order to prevent osteoporosis and fractures is recommended.

Bone quality in older adults with intellectual disabilities.

Although osteoporosis is a progressive bone disease leading to increased risk of fracture, it has rarely been investigated on a large scale in older people with intellectual disabilities (ID). In this study, 768 persons with ID (aged ≥ 50 years) were measured with quantitative ultrasound to determine the prevalence of low bone quality. The association of low bone quality with patient characteristics, mobility, physical activity, body mass index (BMI), prior fractures, anticonvulsant drug use, intake of calcium, and vitamin D3 levels was also investigated. The prevalence of low bone quality was 43.9%. Low bone quality was positively associated with female gender, age, more severe level of ID, mobility impairment, and anticonvulsant drug use, and negatively with BMI. In clinical practice, people with ID who are at risk for low bone quality should periodically be screened for osteoporosis and be given advice about nutritional supplements and appropriate lifestyle.