ABSTRACT
Parents of 85 boys with dystrophinopathies and 51 sibling controls completed the Social Communication Questionnaire, describing child behaviors associated with autism spectrum disorders and a rating of parental stress. Twenty-one boys with dystrophinopathies and no siblings received scores above the cut-point for possible autistic spectrum disorders. Mothers of identified children were given detailed interviews using the Autism Diagnostic Interview-Revised, and 16 boys (about 19% of the sample) met the criteria for autism spectrum disorders. Significant qualitative abnormalities in reciprocal social interactions and communication were evident in all, whereas restricted and repetitive behaviors were generally less pronounced in the group. Moreover, parents of boys with dystrophinopathy and autism spectrum disorders demonstrated significantly higher ratings of stress than parents of boys with dystrophinopathy alone. Increased attention to behavioral concerns associated with dystrophinopathies is necessary to ensure the well-being of the whole family.
Subject(s)
Autistic Disorder , Muscular Dystrophies , Adolescent , Age Factors , Algorithms , Autistic Disorder/diagnosis , Child , Communication Disorders/diagnosis , Humans , Interpersonal Relations , Interviews as Topic , Male , Mothers/psychology , Muscular Dystrophies/diagnosis , Parents/psychology , Stereotyped Behavior , Stress, Psychological , Surveys and QuestionnairesABSTRACT
The goal of the current investigation was to examine adaptive behavior and cognitive skills in young children with Duchenne muscular dystrophy (DMD), a genetic disorder that causes progressive muscular weakness and concomitant cognitive deficits. Previous studies have documented specific language deficits in older children with DMD, but there are limited data on younger children. Twenty children with DMD who were between 3 and 6 years old and 20 unaffected family control children were recruited. Parents completed questionnaires relating to development and adaptive functioning, while children completed neuropsychological testing. Results of paired t tests indicate that children with DMD are rated as delayed relative to familial controls on measures of adaptive functioning, as assessed by the Vineland Adaptive Behavior Scales. Furthermore, children with DMD exhibit impairments on multiple measures of cognition, including measures of receptive language, expressive language, visuo-spatial skills, fine-motor skills, attention, and memory skills. Across all domains examined, the young children with DMD performed more poorly than their familial controls. These deficits appear to be more generalized than those reported in older children with this disorder. Dystrophin, a missing protein product, is hypothesized to be responsible for these cognitive and behavioral impairments.
Subject(s)
Adaptation, Psychological/physiology , Cognition Disorders/etiology , Muscular Dystrophy, Duchenne/complications , Muscular Dystrophy, Duchenne/psychology , Activities of Daily Living , Attention/physiology , Child , Child, Preschool , Communication , Female , Humans , Language Development , Lymphoproliferative Disorders , Male , Memory/physiology , Motor Skills/physiology , Neuropsychological Tests , Parent-Child Relations , Surveys and Questionnaires , Visual Perception/physiologyABSTRACT
Cyrulnik, S.C., and V.J. Hinton. Duchenne muscular dystrophy: A cerebellar disorder? NEUROSCI. BIOBEHAV. REV. Duchenne muscular dystrophy (DMD) is a genetic disorder that is often associated with cognitive deficits. These cognitive deficits have been linked to the absence of dystrophin, a protein product which is normally found in multiple tissues throughout the body. In the current paper, we argue that it is the absence of dystrophin in the cerebellum that is responsible for the cognitive deficits observed. We begin by reviewing data that document structural and functional abnormalities in the brains of individuals with DMD and mdx mice. We briefly review the cognitive deficits associated with DMD, and then present neuroimaging and neuropsychological evidence to indicate that the cerebellum is involved in the same aspects of cognition that are impaired in children with DMD. It is our contention that the development of brain pathways in the cerebellum (e.g., cerebro-cerebellar loops) without dystrophin may result in altered brain function presenting as cognitive deficits in DMD.
Subject(s)
Cerebellum/metabolism , Cognition Disorders/etiology , Dystrophin/metabolism , Muscular Dystrophy, Duchenne/complications , Animals , Cerebellar Diseases/complications , Cerebellar Diseases/metabolism , Cerebellar Diseases/pathology , Cerebellum/pathology , Child , Cognition Disorders/metabolism , Cognition Disorders/pathology , Dystrophin/deficiency , Humans , Memory, Short-Term/physiology , Mice , Mice, Inbred mdx , Muscular Dystrophy, Duchenne/metabolism , Muscular Dystrophy, Duchenne/pathology , Neural Pathways/metabolism , Neural Pathways/pathology , ReadingABSTRACT
OBJECTIVES: To document the attainment of developmental milestones in children with Duchenne's muscular dystrophy (DMD) and to determine whether early delays are associated with later performance on measures of cognition. STUDY DESIGN: Retrospective parental report was utilized to document the acquisition of 10 common developmental milestones in children with DMD (n = 130) and their unaffected siblings (n = 59). Children completed tests of cognitive functioning. RESULTS: Parents rated children with DMD as delayed on achieving both language and motor milestones more frequently than their unaffected siblings. Furthermore, those children with DMD who were rated as late talkers or late walkers performed more poorly on tests of cognitive function than their on-time peers. CONCLUSIONS: In addition to the commonly reported delays in motor milestones, the current study documents delays in the acquisition of language milestones as well. These early delays are associated with significant impairments in later cognitive functioning.
Subject(s)
Language Development Disorders/etiology , Muscular Dystrophy, Duchenne/complications , Adolescent , Child , Child, Preschool , Humans , Infant , Male , Muscular Dystrophy, Duchenne/physiopathology , Retrospective StudiesABSTRACT
Duchenne muscular dystrophy (DMD) is a chronic, progressive pediatric disease that affects both muscle and brain. The objectives of the study were to examine parent reported behavior in children with DMD, investigate the influence of chronic illness, intellectual ability and etiology on behavior, and determine whether a specific behavioral profile is associated with DMD. Parental ratings of boys with DMD (n = 181) on the Child Behavior Checklist behavior scales were examined and compared to reported findings of children with other chronic illnesses, unaffected siblings of boys with DMD (n = 86), and children with cerebral palsy (CP) (n = 42). Increased ratings of general behavior problems were reported, and neither physical progression nor intellectual level contributed to behavioral ratings. Among the children with DMD, the Social Problem behavior scale had the greatest number of "clinically significant" ratings (34%). Between-group comparisons showed significantly more boys with DMD were rated as having social behavior problems than either the sibling or CP comparison groups. In addition to the increase in reported behavioral problems likely related to the effects of chronic illness, boys with DMD may be at heightened risk for specific social behavior problems. The specificity of the findings of the behavior profile in DMD may be partially due to the lack of dystrophin isoforms in the central nervous system, and not solely a reactive response to the illness.
Subject(s)
Muscular Dystrophy, Duchenne/epidemiology , Social Behavior Disorders/epidemiology , Adolescent , Cerebral Palsy/epidemiology , Child , Chronic Disease , Disability Evaluation , Humans , Male , Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/psychology , Observer Variation , Parents , Severity of Illness Index , Social Behavior Disorders/diagnosis , Social Behavior Disorders/psychology , Surveys and QuestionnairesABSTRACT
The authors examined the neuropsychological status of 22 preschoolers at risk for attention-deficit/hyperactivity disorder (ADHD) and 50 matched control children, using measures of nonverbal working memory, perceptual and motor inhibition, and memory for relative time. All tasks included paired control conditions, which allowed for the isolation of discrete executive function constructs. Group differences were evident on several measures of neuropsychological functioning; however, after accounting for nonexecutive abilities, no deficits could be attributed to specific functions targeted by the tasks. Performance on executive measures was not related to objective indices of activity level or ratings of ADHD symptoms. Yet, the fact that at-risk preschoolers were highly symptomatic casts doubt on whether executive function deficits and/or frontostriatal networks contribute etiologically to early behavioral manifestations of ADHD.
