David D. Schwartz

The Role of Parents

Having a child with a chronic illness places a substantial burden on parents. In early and middle childhood, the parent must shoulder complete responsibility for illness management; as the child enters adolescence, responsibility begins to be shared, and parenting gradually shifts from efforts to gain child compliance to efforts to support the youth’s increasing autonomy. This is a delicate dance, often fraught with the danger of descending into a cycle of parent-child conflict. Yet the research literature is very clear—maintaining positive parent involvement from childhood through even late adolescence is strongly associated with better adherence, better illness control, and better child quality of life. how to maintain involvement in a positive way without devolving into conflict is the focus of this chapter. We discuss important aspects of effective, positive parenting, and the ways parenting can go wrong despite only intending to do well.

Feasibility, Acceptability, and Predictive Validity of a Psychosocial Screening Program for Children and Youth Newly Diagnosed With Type 1 Diabetes

OBJECTIVE Psychosocial screening has been recommended for pediatric patients with newly diagnosed type 1 diabetes and their families. Our objective was to assess a psychosocial screening protocol in its feasibility, acceptability to families, and ability to predict early emerging complications, nonadherent family behavior, and use of preventive psychology services. RESEARCH DESIGN AND METHODS A total of 125 patients and their caregivers were asked to participate in a standardized screening interview after admission at a large urban children’s hospital with a new diagnosis of type 1 diabetes. Medical records were reviewed for subsequent diabetes-related emergency department (ED) admissions, missed diabetes clinic appointments, and psychology follow-up within 9 months of diagnosis. RESULTS Of 125 families, 121 (96.8%) agreed to participate in the screening, and a subsample of 30 surveyed caregivers indicated high levels of satisfaction. Risk factors at diagnosis predicted subsequent ED admissions with a sensitivity of 100% and a specificity of 98.6%. Children from single-parent households with a history of behavior problems were nearly six times more likely to be seen in the ED after diagnosis. Missed appointments were likeliest among African Americans, 65% of whom missed at least one diabetes-related appointment. Psychology services for preventive intervention were underutilized, despite the high acceptability of the psychosocial screening. CONCLUSIONS Psychosocial screening of newly diagnosed patients with type 1 diabetes is feasible, acceptable to families, and able to identify families at risk for early emerging complications and nonadherence. Challenges remain with regards to reimbursement and fostering follow-up for preventive care.

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.

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome†

Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen‐activated protein kinase pathway. In contrast to the more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information is available on standardized cognitive testing in this cohort. Past research indicated a mean average IQ in the mild mental retardation range, with strengths in fluid reasoning (FR) and weakness in expressive language, as well as static skills over time. Here we report on standardized IQ and adaptive functioning in 18 individuals with Costello syndrome, nine males and nine females, and longitudinal development for 11 who had previous testing. The overall IQ, ranging from severe mental retardation to the average range, with a mean in the mildly mentally retarded range, was again found to be stable, but an interesting pattern in the development of nonverbal FR was identified. Participants showed an improvement in nonverbal FR, followed by stable skills thereafter, suggesting a “late bloomer” effect in late childhood/early adolescence. Overall adaptive functioning fell into the range of Intellectual Disability for 70% of subjects, with Socialization as a relative strength and Daily Living Skills an area of relative difficulty. Interestingly, females were found to be higher functioning than males in all domains, including Communication, Daily Living Skills and Socialization. Caregivers reported significantly more behavioral concerns in males, including internalizing, externalizing, and other maladaptive behaviors. In contrast, no gender differences were found in cognitive or visuomotor functioning.

Neurocognitive Functioning in Children and Adolescents at the Time of Type 1 Diabetes Diagnosis: Associations With Glycemic Control 1 Year After Diagnosis

OBJECTIVE To determine whether impairments in neurocognitive functioning are detectable at type 1 diabetes diagnosis and associated with subsequent glycemic control. RESEARCH DESIGN AND METHODS Children/adolescents (N = 147) aged 5–18 years completed neuropsychological testing during their inpatient hospitalization for new-onset type 1 diabetes. Test scores were compared with normative data using one-sample Student t tests. Children with onset before 8 years of age were compared with children aged 9–18 years using ANOVA, and associations between neurocognitive performance at diagnosis and glycemic control 1 year postdiagnosis were examined using regression analyses. RESULTS Children with type 1 diabetes performed significantly below expectations on most neurocognitive measures (P values <0.0001), with large decrements from the normative mean evident in psychomotor speed (>1 SD), visuomotor integration (0.7 SD), and phonemic fluency (0.8 SD). High incidence of impairment (scores less than second percentile) was evident on all tasks except digit span. Dominant-hand psychomotor speed was significantly associated with poor glycemic control (A1C ≥9.5% [80 mmol/mol]; P = 0.032) 1 year postdiagnosis, controlling for race/ethnicity, sex, and reading ability. Impaired psychomotor speed was associated with a 0.77% increase in mean A1C (8.4 mmol/mol). CONCLUSIONS Deficits were evident in neurocognitive functioning within days of diabetes diagnosis that were associated with diabetes outcomes over 1 year postdiagnosis. Impairment was most apparent in psychomotor speed, consistent with research implicating damage to posterior white matter tracts and associated gray matter regions in type 1 diabetes. Psychomotor impairment may be an early marker for a broader neurobehavioral vulnerability that has implications for long-term diabetes management.

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 and executive functioning in adult survivors of congenital heart disease.

OBJECTIVE Congenital heart disease (CHD) can affect the developing central nervous system, resulting in neurocognitive and behavioral deficits. Preoperative neurological abnormalities as well as sequelae of the open heart operations required to correct structural abnormalities of the heart contribute to these deficits. There are few studies examining the neurocognitive functioning of adults with CHD. This study sought to investigate multiple domains of neurocognitive functioning in adult survivors of CHD who had childhood cardiac surgery with either moderate or severe disease complexity. DESIGN A total of 48 adults (18-49 years of age) who had undergone cardiac surgery for CHD prior to five years of age participated in the study. CHD severity was classified as moderate or severe according to the 32nd Bethesda Guidelines. A computerized battery of standardized neurocognitive tests (CNS-Vital Signs), a validated rating scale of executive functioning, and demographic questionnaires were administered. RESULTS There were no significant differences between the moderate CHD group and normative data on any cognitive measure. In contrast, the severe CHD group differed from norms in multiple domains: psychomotor speed, processing speed, complex attention, reaction time, and on the overall neurocognitive index. Number of surgeries was strongly related to worse executive functioning. There was no association between age at first surgery or time since last surgery and neuropsychological functioning. Number of surgeries was also unrelated to neurocognitive test performance. CONCLUSIONS Patients with severe CHD performed significantly worse on measures of processing speed, attention, and executive functioning. These findings may be useful in the long-term care of adults with congenital heart disease.

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

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.

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.

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.