Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position

Abstract

Objectives: The aim of this study was to investigate executive skills in children with dystrophinopathy and to examine the association between executive functions and dystrophin gene mutation position. Methods: Fifty boys with dystrophinopathy (mean age, 11 years 0 months; ages range, 5 to 17 years) completed measures of intellectual functioning (IF), working memory and executive functioning [including Digit Span (working memory) and measures from the NIH Toolbox (selective attention/inhibitory control, set shifting, working memory, and processing speed)]. Parents completed the Behavior Rating Inventory of Executive Function (BRIEF). Mutation positions were categorized into three groups (upstream exon 30, 31–62, and downstream exon 63). Paired-samples t tests compared performance on executive measures to IF, and a one-way (three-group) multivariate analysis of covariance compared cognitive performance with mutation location controlling for motor functioning. Results: Mean performance on all executive measures was significantly lower than IF. Parents were also more likely to rate their child with dystrophinopathy as having clinically significant executive difficulties on the Shift, Emotional Control, and Behavior Regulation indices of the BRIEF. Mutation analyses resulted in small groups limiting power to detect subtle differences. Those with a downstream mutation position had significantly poorer performance on IF and Total Digit Span, but not on other measures of executive function including behavior. Conclusions: Individuals with dystrophinopathy have executive skill deficits, but they are not generally associated with more distal mutations. (JINS, 2019, 25, 146–155)

The Hidden Disease: Delayed Diagnosis in Duchenne Muscular Dystrophy and Co-Occurring Conditions

“…The prevalences of each neurocognitive diagnosis in this study, which were found to be similar to previous studies on DMD (Refs. 1, 5, and 6).…”

“…1,3,4 Lack of dystrophin can also affect the brain, with various neurocognitive conditions known to be more prevalent in patients with DMD than in the general population. [5][6][7] These include autism spectrum disorder (.3%), attention-deficit/hyperactivity disorder (ADHD, .12%), intellectual disability (ID, 30%-40%), and speech and language delay (SLD, 61%). 2,8,9 We hypothesize that early motor delay is mistakenly attributed to the underlying co-occurring neurocognitive disorder because some amount of motor delay may be common in children with autism, ADHD, ID, and speech and language delay.…”

Uses of the NIH Toolbox® in Clinical Samples

“…[19][20][21][22][23][24] In addition, 9 records reported using modifications in scoring procedures. [25][26][27][28][29][30][31][32][33] Sample Characteristics Across all publication types, a notable proportion of records limited inclusion to either pediatric (i.e. As Figure 2C shows, the median sample size of female participants across all journal articles reporting this information was 29 (range = 0-594; IQR = 10-55), and the median sample size of male participants was 25 (range = 0-408; IQR = 7-61).…”

Predictors of overload in parents of children with neuromuscular diseases

“…Caring for these patients requires close, continuous third-party attention, which can seriously affect their quality of life (QoL) (7,8). In addition to the severity of the disease and symptoms, there are other comorbidities that are present during the child's development that parents have to address, such as behavioral and emotional disturbances, deficits in social communication and adaptation, and cognitive symptoms (9).…”