Background Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disorder and determined if abnormalities are indicative of responses to therapeutic intervention. Methods A retrospective, multi-center, case-control study was performed. Patients were required to have subacute onset and the presence of four of five symptom groups present (cognitive decline, expressive language, sleep derangement, loss of ability to perform activities of daily living, and/or a new movement disorder) and no other explanation for symptoms. Results Individuals with Down syndrome regression disorder were comparable to a cohort of individuals with only Down syndrome although had higher rates of autoimmune disease (p = 0.02, 95%CI 1.04–1.75). Neurodiagnostic abnormalities were found on EEG (n = 19, 26%), neuroimaging (n = 16, 22%), and CSF (n = 9, 17%). Pleocytosis was appreciated in five cases, elevated total protein in nine, elevated IgG index in seven, and oligoclonal bands in two. Testing within 2 years of symptom onset was more likely to have neurodiagnostic abnormalities (p = 0.01, 95%CI 1.64–37.06). In individuals with neurodiagnostic abnormalities, immunotherapy was nearly four times more likely to have a therapeutic effect than in those without neurodiagnostic abnormalities (OR 4.11, 95%CI 1.88–9.02). In those with normal neurodiagnostic studies (n = 43), IVIg was effective in 14 of 17 (82%) patients as well although other immunotherapies were uniformly ineffective. Conclusions This study reports the novel presence of neurodiagnostic testing abnormalities in individuals with Down syndrome regression disorder, providing credence to this symptom cluster potentially being of neurologic and/or neuroimmunologic etiology.

The current study evaluates the psychometric properties of the Behavior Rating Inventory of Executive Function (BRIEF) with children with Down syndrome. Caregivers of 84 children with Down syndrome rated their child's behavior with the BRIEF. Teacher ratings were obtained for 57 children. About 40% of children with Down syndrome were reported by parents, and 70% by teachers, to exhibit clinically significant challenges with executive functioning. Distribution of scores was normal, internal consistency for subscales was questionable to primarily excellent, and inter-rater reliability was poor to good. Normative data conversions controlled for age, IQ, and gender differences, with some exceptions. The study findings suggest that the BRIEF and its subscales generally performed in a psychometrically sound manner among children with Down syndrome.

ObjectiveTo develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome.BackgroundThere are no consensus criteria for the evaluation or diagnosis of neurocognitive regression in persons with Down syndrome. As such, previously published data on this condition is relegated to smaller case series with heterogenous data sets. Lack of standardized assessment tools has slowed research in this clinical area.MethodsThe authors performed a two-round traditional Delphi method survey of an international group of clinicians with experience in treating Down syndrome to develop a standardized approach to clinical care and research in this area. Thirty-eight potential panelists who had either previously published on neurocognitive regression in Down syndrome or were involved in national or international working groups on this condition were invited to participate. In total, 27 panelists (71%) represented nine medical specialties and six different countries reached agreement on preliminary standards in this disease area. Moderators developed a proposed nomenclature, diagnostic work up and diagnostic criteria based on previously published reports of regression in persons with Down syndrome.ResultsDuring the first round of survey, agreement on nomenclature for the condition was reached with 78% of panelists agreeing to use the term Down Syndrome Regression Disorder (DSRD). Agreement on diagnostic work up and diagnostic criteria was not reach on the first round due to low agreement amongst panelists with regards to the need for neurodiagnostic testing. Following incorporation of panelist feedback, diagnostic criteria were agreed upon (96% agreement on neuroimaging, 100% agreement on bloodwork, 88% agreement on lumbar puncture, 100% agreement on urine studies, and 96% agreement on “other” studies) as were diagnostic criteria (96% agreement).ConclusionsThe authors present international consensus agreement on the nomenclature, diagnostic work up, and diagnostic criteria for DSRD, providing an initial practical framework that can advance both research and clinical practices for this condition.

Childhood obesity is a major public health problem in the United States and is associated with numerous comorbidities. The relationship of obesity to risk of traumatic injury and recovery has been described, although not in depth. In adults with burns, obesity has been linked to negative impact on functional outcomes as well as increased mortality. Less is known about the impact of obesity on children with burns. The primary objective of this study was to determine the effect of obesity on length of hospital stay (LOS) among admitted pediatric burn patients. A secondary objective was to compare the difference in burn characteristics between obese and nonobese burn patients. To explore these questions, a retrospective cohort study of patients aged 0 to 18 years admitted to a children's hospital burn unit between February 1, 2000, and September 30, 2006 was performed. For the purposes of this study, obesity was defined as weight-for-length (<2 years of age) or body mass index (> or =2 years of age) > or =95th percentile for age and gender. Patients who had concomitant, nonburn injuries were not included in the study. LOS was measured in days, and an initial univariate analysis examined the association of clinical and demographic factors with LOS. To adjust for confounding, those factors that were found to be significantly associated with LOS were entered into a stepwise linear regression. A total of 528 patients were included in the study group, 17.4% of whom were obese. Obese patients were more likely to suffer a burn of a high-risk anatomic area (72.8% vs 60.8%). Median LOS for obese patients was significantly higher than nonobese (9.3 vs 7.1 days, P < .05). In the adjusted model, factors significantly associated with LOS included total body surface area burned, percent full thickness burn, Medicaid insurance status, and obesity. After controlling for these factors, obese children had a 6.5% longer LOS than nonobese children. This interesting finding raises the question of which factors are responsible for the increased length of stay for obese children hospitalized with burns. Investigating factors such as rate of complications, slower healing, or greater functional impairment may shed light on this finding.

Fingertip crush injuries are common hand injuries in children and often are evaluated initially in an emergency department. Nail bed injuries can be classified into subungual hematomas, simple or stellate lacerations, crush injuries, and avulsions. Emergency department physicians with good knowledge of fingertip anatomy can appropriately manage these injuries so as to prevent long-term fingertip deformities and functional deficits. The management of simple nail bed lacerations and subungual hematomas has remained somewhat controversial with much debate surrounding the necessity of removing the nail plate for repair of a nail bed laceration versus trephination alone of a large subungual hematoma. This article will discuss the management and evaluation of simple nail bed injuries by emergency department physicians to prevent chronic nail and fingertip deformities.

The study findings suggest that, among children with DS, some CBCL sub-scales generally performed in a psychometrically sound and theoretically appropriate manner in relation to other measures of behaviour. Caution is warranted when interpreting specific sub-scales (Anxious/Depressed, Somatic Complaints and Thought Problems). The CBCL can continue to be used as a screening measure when evaluating behavioural concerns among children with DS, acknowledging poor discriminant validity and the possibility that key behaviour concerns in DS may not be captured by the CBCL screen.

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Background While delays in cognitive development are detectable during early development in Down syndrome, the neuropsychological and biomedical underpinnings of cognitive skill acquisition in this population remain poorly understood. Method To explore this issue, 38 infants with Down syndrome [mean chronological age = 9.65 months; SD = 3.64] completed the Bayley Scales of Infant Development‐III and a set of laboratory tasks that measured sustained attention (duration of visual attention during a 1‐min object exploration task), attention shifting (mean latency to shift attention on an alternating object presentation task) and visual short‐term memory (dishabituation to a novel object on a change preference task). Results Latency to shift attention was negatively associated with Bayley Cognitive Scale raw scores, even when controlling for the effects of chronological age, r (33) = −.41, P = .02. In addition, prematurity status was associated with latency to shift attention. Conclusions Early attention shifting may be an important factor that facilitates overall cognitive skill acquisition in infants with Down syndrome, and premature birth may be a risk factor for difficulties on this dimension.