Volume of white matter hyperintensities is an independent predictor of intelligence quotient and processing speed in children with sickle cell disease.

Sickle cell disease can be complicated by cerebral white matter hyperintensities (WMHs), which are associated with diminished neurocognitive functioning. The influence of the total volume of WMHs on the degree of neurocognitive dysfunction has not yet been characterized. In our study of 38 patients (mean age 12·5 years) we demonstrated that a higher volume of WMHs was associated with lower full-scale intelligence quotient (IQ), verbal IQ, Processing Speed Index and more fatigue. Our results suggest that volume of WMHs is an additional parameter to take into account when planning individual diagnostic and treatment options.

Quality of life and behavioral functioning in Dutch pediatric patients with hereditary spherocytosis.

UNLABELLED: The objective of this study was to evaluate health-related quality of life (HRQoL) and behavioral functioning in pediatric patients with hereditary spherocytosis (HS). A cross-sectional study was conducted in 132 Dutch children and adolescents with HS and aged 8-18 years of whom 48 underwent splenectomy prior to the study. HRQoL was assessed using the KIDSCREEN-27, and behavioral functioning was evaluated using the strength and difficulties questionnaire (SDQ). Scores of pediatric patients with HS were compared to a Dutch norm population. Additionally, the effects of three factors were assessed: fatigue, self-image, and parents' perceived vulnerability (measured with the checklist individual strength, the self-perception profile for children and adolescents, and the child vulnerability scale). Both unsplenectomised and splenectomised pediatric patients reported lower HRQoL on the domain physical well-being (KIDSCREEN-27) compared to Dutch peers. For behavioral functioning, parents of both groups reported more emotional problems (SDQ) compared to the norm population. Pediatric patients with lower scores on physical well-being experienced more fatigue. The patients' perceived social acceptance and parents' perceived vulnerability appeared as determinants of emotional problems. CONCLUSION: Pediatric patients in the current study generally report few complaints, and the results suggest that these patients overall have a strong ability to cope with HS. Despite these few complaints, fatigue and parents' perceived vulnerability seem to be important determinants for lower HRQoL and more emotional problems. Therefore, screening on these factors could serve as an addition to the treatment of HS, to help pediatric patients who are at risk for lower HRQoL or more emotional problems.

Neurocognitive deficits in children with sickle cell disease are associated with the severity of anemia.

BACKGROUND: Although neurocognitive deficits in children with sickle cell disease (SCD) have been well documented, the etiology of these deficits has not been completely clarified. The aim of this study was to investigate the association of laboratory markers of disease severity and radiological parameters with neurocognitive functioning in children with SCD. DESIGN AND METHODS: Participants were 37 children with SCD ((HbSS or HbS-ß(0)-thalassemia) aged 6-18 years. All participants underwent extensive neurocognitive assessment. Further data (TCD values, laboratory test results, and MRI data) were obtained from medical charts. Associations were analyzed by hierarchical regression analysis. RESULTS: Hemoglobin was associated with a decrease in verbal short-term memory. There was no association between TCD velocities and neurocognitive functioning, when controlled for age. Children with silent infarcts did not differ from children with normal MRI in neurocognitive functioning. Children with right-left asymmetries in cerebral blood flow as measured by continuous arterial spin labelling (CASL) MRI had better sustained attention than children without asymmetries. CONCLUSIONS: Neurocognitive deficits are associated with the severity of anemia, indicating reduced oxygen delivery to the brain as an etiological mechanism. This implies that children with SCD and normal MRIs may still suffer from neurocognitive impairments, possibly affecting their academic development and full participation in society.

Neurocognitive deficits in children with sickle cell disease: a comprehensive profile.

BACKGROUND: Sickle cell disease (SCD) can lead to profound cerebral damage, associated with neurocognitive deficits. The aim of the current study was to evaluate a broad range of neurocognitive functions in children with SCD compared to a SES-matched control group, in order to gain more insight into the specific deficits of these patients. METHODS: Forty-one children with homozygous SCD (HbSS or HbS-ß0-thalassemia) and 38 controls were assessed on a comprehensive set of well-defined and validated measures of neurocognitive functioning. Besides general intelligence, we evaluated executive functioning extensively (including response inhibition, sustained attention, planning, visuo-spatial working memory, and verbal working memory) as well as visuo-motor functioning. RESULTS: SCD was clearly associated with lower IQ scores. More than one in three children with SCD had a Full-scale IQ below 75. Furthermore, children with SCD showed deficits in visuo-motor functioning. Some evidence was found for executive dysfunction: Children with SCD displayed poor visuo-spatial working memory, as well as subtle deficits in sustained attention and planning. No significant differences were found between children with SCD and controls in terms of response inhibition and verbal working memory. CONCLUSIONS: Children with SCD are at increased risk of lower intelligence, visuo-motor impairments, and executive dysfunction. These neurocognitive deficits may underlie high rates of scholastic impairments in these children. The present findings further illuminate the importance of regular neurocognitive evaluations and future neurocognitive rehabilitation programs for children with SCD.

Double disadvantage: a case control study on health-related quality of life in children with sickle cell disease.

BACKGROUND: Low health-related quality of life (HRQoL) of children with sickle cell disease (SCD) may be associated with consequences of the disease, or with the low socio-economic status (SES) of this patient population. The aim of this study was to investigate the HRQoL of children with SCD, controlling for SES by comparing them to healthy siblings (matched for age and gender), and to a Dutch norm population. METHODS: The HRQoL of 40 children with homozygous SCD and 36 healthy siblings was evaluated by the KIDSCREEN-52. This self-report questionnaire assesses ten domains of HRQoL. Differences between children with SCD and healthy siblings were analyzed using linear mixed models. One-sample t-tests were used to analyze differences with the Dutch norm population. Furthermore, the proportion of children with SCD with impaired HRQoL was evaluated. RESULTS: In general, the HRQoL of children with SCD appeared comparable to the HRQoL of healthy siblings, while children with SCD had worse HRQoL than the Dutch norm population on five domains (Physical Well-being, Moods & Emotions, Autonomy, Parent Relation, and Financial Resources). Healthy siblings had worse HRQoL than the Dutch norm population on three domains (Moods & Emotions, Parent Relation, and Financial Resources). More than one in three children with SCD and healthy siblings had impaired HRQoL on several domains. CONCLUSION: These findings imply that reduced HRQoL in children with SCD is mainly related to the low SES of this patient population, with the exception of disease specific effects on the physical and autonomy domain. We conclude that children with SCD are especially vulnerable compared to other patient populations, and have special health care needs.

Behavioral and emotional problems in children with sickle cell disease and healthy siblings: Multiple informants, multiple measures.

BACKGROUND: Behavioral and emotional problems in children with sickle cell disease (SCD) may be related to disease factors, or to socio-demographic factors. The aim of this study was to investigate the prevalence of behavioral and emotional problems in children with SCD living in a Western European country, compared to healthy siblings (who were comparable in age, gender, ethnicity, and socio-economic status-SES), and to a Dutch norm population. METHODS: The Child Behavior Checklist (CBCL), Teacher Report Form (TRF) and Disruptive Behavior Disorders rating scale (DBD) were distributed among caregivers and teachers of 119 children with SCD aged 6-18 years and among caregivers and teachers of 38 healthy siblings. RESULTS: Questionnaires were returned by caregivers and/or teachers of 106 children with SCD and 37 healthy siblings. According to caregivers and teachers, children with SCD had more severe internalizing problems than healthy siblings and the norm population. According to teachers, subgroups of both children with SCD and healthy siblings had more severe externalizing problems than the norm population. Children with SCD had more difficulties than healthy siblings in terms of school functioning, showed less competent social behavior and tended to have more attention deficits. CONCLUSIONS: Children with SCD are at increased risk of developing internalizing problems as a result of their disease. Subgroups of children with SCD are at increased risk of developing severe externalizing problems, which may either be related to socio-demographic factors, or to disease factors, such as neurocognitive deficits associated with cerebral infarction.