Risky self-management behaviors in adolescents with type 1 diabetes: Measurement validation for the Diabetes-Specific Risk-Taking Inventory.

OBJECTIVE: Among persons with type 1 diabetes (T1D), adolescents often experience the greatest challenge achieving optimal treatment engagement and glycemic targets. Risk-taking behaviors often increase during adolescence and may interfere with engagement in T1D care. We developed the Diabetes-Specific Risk-Taking Inventory (DSRI) to assess risky T1D self-management behaviors in adolescents with T1D. In the current study, we aimed to examine the DSRI's psychometric properties. RESEARCH DESIGN AND METHODS: We surveyed a national sample of 224 adolescents from the T1D Exchange registry (M age = 16.9 ± 1.1, 49% female, M A1c = 8.5% ± 1.3, 76.8% on insulin pumps) in a cross-sectional design. Participants completed the DSRI and measures of engagement, general risk-taking, and executive functioning and reported on incidence of severe hypoglycemia and diabetic ketoacidosis over the past year. RESULTS: The DSRI demonstrated reliability (internal consistency: α = 0.89; test-retest reliability: r = 0.86, p < 0.01). Concurrent validity was demonstrated through significant associations between the DSRI and T1D engagement (r = -0.75), general risk-taking (r = 0.57), executive dysfunction (r = 0.34), and report of severe hypoglycemia over the past year (r = 0.22). The DSRI accounted for unique variance in adolescents' most recent glycated hemoglobin, above and beyond other variables, indicating its incremental validity. CONCLUSIONS: Overall, initial psychometrics suggest the DSRI is a reliable and valid measure of risks that adolescents may take with their T1D care. This innovative self-report measure has potential to be an actionable clinical tool to screen for high-risk behaviors not routinely assessed in T1D clinical care.

"Why We Keep Coming Back": Family and Provider Perspectives on Factors Influencing Long-term Follow-up for Pediatric Cancer Survivorship Care.

PURPOSE: The majority of childhood cancer survivors do not follow-up for long-term risk-based screening for recurrent illness and treatment late effects, despite a high prevalence of secondary morbidities. The primary aim of this study was to investigate factors that influence long-term follow-up for survivorship care, from the perspectives of providers, patients, and caregivers. MATERIALS AND METHODS: A semistructured interview was designed to elicit stakeholder perspectives on factors that facilitate or impede routine clinic visits after completion of cancer therapy. Results were analyzed using a qualitative framework method. RESULTS: Providers, patients, and caregivers identified a wide range of factors that might influence long-term follow-up for care. All respondents noted the importance of efficient clinical operations, resources such as parking, provider behaviors, rapport/attachment, and patient/family logistics. Compared with patients/caregivers, providers more frequently mentioned institutional operations, their own education and skills, patient/family understanding and motivation, and interpersonal processes such as communication style. Families more frequently mentioned clinic environment, and patients more frequently noted the importance of having a family member present, something neither providers nor caregivers reported. CONCLUSIONS: Providers, patients, and patient caregivers have different perspectives regarding factors that may influence follow-up for long-term survivorship care. Understanding these differences can help inform efforts to improve follow-up.

An Automated Risk Index for Diabetic Ketoacidosis in Pediatric Patients With Type 1 Diabetes: The RI-DKA.

Identifying patients at high risk for diabetic ketoacidosis (DKA) is crucial for informing efforts at preventive intervention. This study sought to develop and validate an electronic medical record (EMR)-based tool for predicting DKA risk in pediatric patients with type 1 diabetes. Based on analysis of data from 1,864 patients with type 1 diabetes, three factors emerged as significant predictors of DKA: most recent A1C, type of health insurance (public vs. private), and prior DKA. A prediction model was developed based on these factors and tested to identify and categorize patients at low, moderate, and high risk for experiencing DKA within the next year. This work demonstrates that risk for DKA can be predicted using a simple model that can be automatically derived from variables in the EMR.

A Comprehensive System for Identifying Patients With Type 1 Diabetes at Increased Risk for Diabetic Ketoacidosis at Texas Children's Hospital.

Quality Improvement Success Stories are published by the American Diabetes Association in collaboration with the American College of Physicians and the National Diabetes Education Program. This series is intended to highlight best practices and strategies from programs and clinics that have successfully improved the quality of care for people with diabetes or related conditions. Each article in the series is reviewed and follows a standard format developed by the editors of Clinical Diabetes. The following article describes a project at Texas Children's Hospital aimed at improving identification of patients with type 1 diabetes at high risk for diabetic ketoacidosis.

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.

It has been estimated that 10-15% of people with Robinow syndrome (RS) show delayed development, but no studies have formally assessed developmental domains. The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening. Eight had autosomal-dominant RS (DVL1, n = 5; WNT5A, n = 3), four had autosomal-recessive RS (NXN, n = 2; ROR2, n = 2), and one had a mutation on an RS candidate gene (GPC4). Participants completed measures of intellectual, fine-motor, adaptive, executive, and psychological functioning. Findings indicated generally average intellectual functioning and low-average visuomotor skills. Adaptive functioning was average in autosomal-recessive RS (RRS) but low average in autosomal-dominant RS (DRS). Parent-report indicated executive dysfunction and attention problems in 4/8 children, 3/4 of whom had a DVL1 variant; adult self-report did not indicate similar difficulties. Learning disabilities were also reported in 4/8 individuals with DRS, 3/4 of whom had a DVL1 variant. Peer problems were reported for a majority of participants, many of whom also reported emotional concerns. Altogether, the findings indicate average neurocognitive functioning in RRS. In contrast, DRS, especially DVL1 pathogenic alleles, may confer specific risk for neurodevelopmental disability.

The Diabetes-Specific Risk-Taking Inventory: Piloting a New Measure for Adolescents With Type 1 Diabetes.

OBJECTIVE: We sought to develop and pilot a new measure, the Diabetes-Specific Risk-Taking Inventory (DSRI), to assess unhealthy risk-taking behaviors among adolescents with type 1 diabetes. METHODS: Thirteen diabetes health care providers, 30 adolescents with type 1 diabetes (aged 15-19 years, 60% female, mean A1C 8.7% [72 mmol/mol], and 33% on insulin pumps), and the adolescents' caregivers rated the perceived riskiness of each item on the DSRI. Adolescents completed the DSRI, for which they reported how often they engaged in 34 behaviors that could place them at risk for acute complications of type 1 diabetes or out-of-range blood glucose levels. Adolescents also completed the risk-taking subscale from the Risk-Taking and Self-Harm Inventory for Adolescents, and parents completed the parent-proxy Diabetes Management Questionnaire. Mean A1C during the previous year was obtained via medical chart review. RESULTS: Results indicated good content validity and feasibility for using the DSRI in a research context, as 100% of adolescents who consented to the study completed the measure. The DSRI was positively correlated with general risk-taking and negatively correlated with diabetes management, indicating preliminary evidence of convergent validity. The DSRI also correlated with A1C. CONCLUSION: This pilot study extends our previous work in developing a conceptual model for illness-specific risk-taking. The DSRI is a promising new measure to assess illness-specific risk-taking, including unhealthy risk-taking behaviors, for adolescents with type 1 diabetes.

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.

Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was associated with meeting ASD criteria: 5/7 (71.4%) younger children met the ASD cut-off on the MCHAT, compared to 0/7 older children on the SCQ. The following medical and developmental factors were strongly associated with ASD criteria on the M-CHAT: having a gastrostomy tube at time of assessment, not eating solid food, not walking, and not being toilet trained. Two children who met stricter ASD criteria had significantly lower adaptive functioning and were physically much more impaired. Among older participants, SCQ subscale scores in communication, socialization, and repetitive behavior domains were comparable to the typically-developing normative sample. ASD symptoms were highly elevated in younger CS individuals. Older children did not differ from typically developing samples in prevalence of ASD symptoms. CS individuals may appear to fall on the autism spectrum in early childhood due to severe feeding and orthopedic problems that improve by age four, suggesting many of these children may eventually emerge out of an ASD presentation.

Predictors of Suboptimal Follow-up in Pediatric Cancer Survivors.

Attendance to follow-up care after completion of cancer treatment is an understudied area. We examined demographic, clinical, and socioeconomic predictors of follow-up by pediatric cancer patients at a large center in 442 newly diagnosed patients using multivariable logistic regression analyses. Patients who did not return to clinic for at least 1000 days were considered lost to follow-up. Two hundred forty-two (54.8%) patients were lost. In multivariable analyses, the following variables were independent predictors of being lost to follow-up: treatment with surgery alone (odds ratio [OR]=6.7; 95% confidence interval [CI], 3.1-14.9), older age at diagnosis (reference, 0 to 4; ages, 5 to 9: OR=1.8, 95% CI, 1.1-3; ages, 10 to 14: OR=3.3; CI, 1.8-6.1; and ages, 15 and above: OR=4.8; CI, 2.1-11.7), lack of history of stem cell transplantation (OR=2, 95% CI, 1.04-3.7) and lack of insurance (OR=3.4; CI, 1.2-9.2). Hispanic patients had the best follow-up rates (53.7%) compared to whites and blacks (P=0.03). Attendance to long-term follow-up care is suboptimal in childhood cancer survivors. Predictors that were associated with nonattendance can be used to design targeted interventions to improve follow-up care for survivors of pediatric cancer.

Illness-Specific Risk-Taking in Adolescence: A Missing Piece of the Nonadherence Puzzle for Youth With Type 1 Diabetes?

Risky behavior is often at its lifetime peak in adolescence. Chronic illness creates additional opportunities for risk because nonadherence behaviors can jeopardize adolescents' health. Adolescents with type 1 diabetes could engage in risky behavior around insulin administration that would put them in danger of severe health consequences. It is possible that some nonadherence behaviors observed in adolescents with type 1 diabetes may result from youth taking risks with their medical treatment. Illness-specific risk-taking behaviors are not captured in most assessments of adherence, which primarily focus on frequency of adherence behaviors. This article reviews current models of general risk-taking and their implications for diabetes management. The authors argue that illness-specific risk-taking may be an important, understudied aspect of illness management that can inform future studies and treatment of nonadherence in adolescents with type 1 diabetes.

Seeing the Person, Not the Illness: Promoting Diabetes Medication Adherence Through Patient-Centered Collaboration.

IN BRIEF Nonadherence to diabetes medications is a primary contributor to health complications and avoidable hospitalizations. This article discusses the evidence for taking a person-centered (as opposed to illness-centered) approach to promoting medication adherence among diabetes patients, provides suggestions for ways in which diabetes clinicians can best promote medication adherence, and argues for needed changes in how health care systems support providers in their efforts at adherence promotion.

Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome.

DK phocomelia/von Voss Cherstvoy syndrome is a rare condition characterized by upper limb and urogenital abnormalities and various brain anomalies. Previously reported cases have noted significant developmental delays, although no formal testing of cognitive abilities has been reported. In this paper we describe results from a comprehensive neuropsychological evaluation of a 12-year-old male with DK phocomelia syndrome. Test findings indicated mild impairment in intellectual functioning, with more significant impairment in adaptive skills and academic achievement. The neuropsychological profile converged with neurological findings, showing a distinct pattern of strengths and weaknesses that suggests functional compromise of posterior brain regions with relatively well-preserved functioning of more anterior regions. Specifically, impairments were evident in perceptual reasoning, visual perception, and visuomotor integration, whereas normal or near normal functioning was evident in memory, receptive language, social cognition, attention, and most aspects of executive functioning. To our knowledge this is the first report to describe the neurocognitive profile of an individual with DK phocomelia syndrome.

Practical strategies to enhance executive functioning and strengthen diabetes management across the lifespan.

The complex type 1 diabetes (T1D) management regimen places extra demands on one's ability to plan, organize, and problem-solve, a set of skills described as executive functioning (EF). Research on the relation between EF and T1D management has been mounting and suggest that deficits in EF skills likely interfere with optimal management. However, given the substantial EF demands of T1D management, any person with T1D, including those without clinically significant deficits, could likely benefit from strategies to improve diabetes-related EF skills. The current review outlines typical EF development across the lifespan and suggests behavioral strategies (e.g., environmental modifications) from the EF literature and clinical experience to enhance EF skills at each period of development. When executive dysfunction is suspected, formal neuropsychological assessment is recommended as EF concerns can be a significant problem of their own, or they could be an indicator of another psychological disorder, such as depression or dementia.

Neurocognitive outcomes in pediatric diabetes: a developmental perspective.

The impact of diabetes on the developing brain is well-accepted. Effects on neurocognitive functioning are moderate but have larger functional implications, especially when considered through a developmental lens. Pathophysiological factors such as severe hypoglycemia and chronic hyperglycemia can alter developmental trajectories in early childhood and perhaps at later periods. In this paper, we selectively review neurocognitive outcomes in pediatric diabetes (largely type 1), integrating recent research from developmental neuroscience and neuroimaging. We examine the effects of diabetes at different stages and place findings within a neurodevelopmental diathesis/stress framework. Early-onset diabetes is associated with specific effects on memory and more global cognitive late-effects, but less is known about cognitive outcomes of diabetes in later childhood and in adolescence, a time of increased neurobehavioral vulnerability that has received relatively limited empirical attention. Studies are also needed to better elucidate risk and protective factors that may moderate neurodevelopmental outcomes in youth with diabetes.

A psychosocial risk index for poor glycemic control in children and adolescents with type 1 diabetes.

OBJECTIVE: The aim of this study was to develop and validate a psychosocial screening tool to predict risk for poor glycemic control in children with type 1 diabetes. METHODS: Participants seen for psychological screening were 196 children aged 3-18 yr at diabetes diagnosis. A psychosocial risk index was developed to predict poor glycemic control [mean hemoglobin A1c (HbA1c) ≥ 9.5%; 80 mmol/mol] 1-4 yr post diagnosis. Cutoff scores were derived for multiple levels of risk from receiver operating characteristic (ROC) curves and likelihood ratios (LRs). Discrimination and calibration were examined in the sample, and validated in 1000 bootstrap samples. Ability to predict diabetes-related emergency-room (ER) visits and diabetic ketoacidosis (DKA) was also tested. RESULTS: The risk index accounted for 16.2% of variance in mean HbA1c, discriminated between children with and without poor glycemic control [area under the receiver operating characteristic curve (AUC) = 0.814, 0.713-0.915; p < 0.001], ER visits (AUC = 0.655, 0.561-0.748; p = 0.001), and DKA(AUC = 0.709, 0.588-0.830; p = 0.001), and was well-calibrated. Every one-point increase in score was associated with an absolute increase in risk for poor glycemic control of approximately 10% (LRs = 1.7, 3.2, 5.8, and 9.3). Sensitivity and specificity were 0.68 (0.43-0.86) and 0.79 (0.72-0.84) for detecting patients at moderate risk, and 0.53 (0.29-0.75) and 0.91 (0.85-0.95) for detecting high-risk patients. The index performed equally well in validation samples. CONCLUSIONS: This paper presents the first psychosocial risk index for poor glycemic control in children newly diagnosed with type 1 diabetes. It is brief, easily administered, and provides a single score that translates directly into an estimate of risk that can help guide routine diabetes care.

Verbal memory functioning in adolescents and young adults with Costello syndrome: evidence for relative preservation in recognition memory.

Costello syndrome (CS) is a rare genetic disorder caused by germline mutations in the HRAS proto-oncogene which belongs to the family of syndromes called rasopathies. HRAS plays a key role in synaptic long-term potentiation (LTP) and memory formation. Prior research has found impaired recall memory in CS despite enhancement in LTP that would predict memory preservation. Based on findings in other rasopathies, we hypothesized that the memory deficit in CS would be specific to recall, and that recognition memory would show relative preservation. Memory was tested using word-list learning and story memory tasks with both recall and recognition trials, a design that allowed us to examine these processes separately. Participants were 11 adolescents and young adults with molecularly confirmed CS, all of whom fell in the mild to moderate range of intellectual disability. Results indicated a clear dissociation between verbal recall, which was impaired (M = 69 ± 14), and recognition memory, which was relatively intact (M = 86 ± 14). Story recognition was highly correlated with listening comprehension (r = 0.986), which also fell in the low-average range (M = 80 ± 12.9). Performance on other measures of linguistic ability and academic skills was impaired. The findings suggest relatively preserved recognition memory that also provides some support for verbal comprehension. This is the first report of relatively normal performance in a cognitive domain in CS. Further research is needed to better understand the mechanisms by which altered RAS-MAPK signaling affects neuronal plasticity and memory processes in the brain.

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review.

Costello syndrome is a rare rasopathy resulting from germline mutations of the proto-oncogene HRAS. Its phenotype includes severe failure-to-thrive, cardiac abnormalities, a predisposition to benign and malignant tumors, hypotonia, and developmental delay. Costello syndrome is associated with cognitive impairment, including intellectual functioning generally in the mild to moderate range of disability, commensurate adaptive functioning, and increased anxiety. Relative strengths have been found for nonverbal fluid reasoning (FR). Gender effects have been reported, with females showing better adaptive functioning across domains. Developmentally, nonverbal skills plateau in late childhood/early adolescence, whereas the rate of vocabulary acquisition may increase in adolescence into early adulthood. Here we review the literature assessing cognitive, adaptive, and behavioral functioning in Costello syndrome, and we provide data from an ongoing longitudinal study. Severity of cognitive impairment may depend upon the specific HRAS mutation, as three individuals with the p.G13C change showed average nonverbal FR skills and borderline-to-low average overall nonverbal IQ. Further, separation anxiety is more common in Costello syndrome than in the general population, affecting 39% of this cohort, and males are more often overly anxious than females. Interrelations between anxiety and cognitive and adaptive functioning were found, pointing to functional difficulties as a likely source of stress and anxiety. Taking into account data from animal models, cognitive and behavioral changes likely originate from abnormal differentiation of neuronal precursor cells, which result in structural and functional brain differences.

A pilot study of acute stress symptoms in parents and youth following diagnosis of type I diabetes.

The primary aims of this exploratory study were to determine the rate of occurrence of acute stress disorder (ASD) in children newly diagnosed with Type 1 diabetes and their parents, to examine relationships with demographic and psychosocial factors, and to examine the relationships between ASD symptom clusters and early adherence behavior (clinic attendance). The sample consisted of 102 parents of children ages 0-17 years and 40 youth ages 11-17 who were evaluated within three days of diabetes diagnosis. Eighteen percent of parents and 17% of youth reported subthreshold symptoms of ASD. Acute stress symptoms and demographic variables predicted clinic attendance, with a differential pattern evident in the responses of youth and their parents. These findings reinforce the importance of screening symptoms of ASD in youth with newly diagnosed diabetes and their parents to assist in identifying families who may be in need of additional support.