ABSTRACT
BACKGROUND: The study objective was to develop a profile of characteristics and diagnostic indicators of agenesis of the corpus callosum (ACC) using a large sample of individuals with ACC and their siblings. Very few previous studies have been able to access large populations in order to develop a comprehensive profile. METHODS: Caregivers of 720 individuals with ACC and 219 siblings, the largest sample studied to date, provided surveys with data on diagnoses, physical characteristics, developmental patterns and physical functioning. RESULTS: Compared with siblings, individuals with ACC exhibited a pattern of delayed motor development, difficulty with balance and bimanual movements, large head size, poor muscle tone, poor depth perception, reduced pain perception, sleeping difficulties and an increased proportion of left and mixed handedness. CONCLUSIONS: These results extend previous descriptions but are also consistent with published reports that used small samples and single case studies. The data provide a profile that has implications for early detection and intervention of individuals with ACC as well as for highlighting future research directions to extend knowledge about ACC.
Subject(s)
Acrocallosal Syndrome/physiopathology , Developmental Disabilities/physiopathology , Psychomotor Performance , Sensation Disorders/physiopathology , Acrocallosal Syndrome/diagnosis , Adolescent , Case-Control Studies , Child , Child, Preschool , Female , Functional Laterality , Humans , Male , Sex Factors , SiblingsABSTRACT
OBJECTIVES: To explore and compare the prevalence and expression of specific health-related variables in a large survey sample of persons with agenesis of the corpus callosum (ACC) and their siblings. METHODS: Caregiver surveys of individuals with ACC (n=189) and their siblings (n=189) provided data regarding diagnoses, physical features, neurological and sensory information, feeding, elimination and sleep concerns, and some behavioural features. RESULTS: Compared with their siblings, individuals with ACC had more concurrent conditions and were more likely to have altered pain perception and sensitivity to touch. In addition, individuals with ACC had more sensory deficits and abnormalities as well as altered patterns of feeding/eating, elimination and sleep. CONCLUSIONS: These data raise important questions for future research and suggest the need for increased vigilance by caregivers and health-care professionals of individuals with callosal disorders. Early detection and intervention may help prevent or ameliorate health problems in this population.
Subject(s)
Agenesis of Corpus Callosum , Health Status , Adolescent , Adult , Aggression , Child , Child, Preschool , Developmental Disabilities/complications , Feeding and Eating Disorders/complications , Health Surveys , Hearing Disorders/complications , Humans , Infant , Mood Disorders/complications , Pain/physiopathology , Self-Injurious Behavior/complications , Sensation Disorders/complications , Siblings , Sleep Wake Disorders/complications , Toilet Training , Touch/physiology , Vision Disorders/complicationsABSTRACT
Absence of the corpus callosum is often associated with cognitive deficits, autism, and epilepsy. Using a genomic microarray, the authors analyzed DNA from 25 patients with radiographically confirmed callosal anomalies and identified three patients with de novo copy number changes in chromosome regions 2q37, 6qter, and 8p. Chromosomal deletions and duplications may be a relatively common cause of cerebral malformations.
Subject(s)
Agenesis of Corpus Callosum , DNA/genetics , Genetic Predisposition to Disease/genetics , Mutation/genetics , Nervous System Malformations/genetics , Child , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 2/genetics , Chromosomes, Human, Pair 6/genetics , Chromosomes, Human, Pair 8/genetics , Corpus Callosum/physiopathology , DNA/analysis , DNA Mutational Analysis , Female , Gene Dosage , Gene Duplication , Genetic Testing , Genomic Library , Humans , Male , Nervous System Malformations/complications , Oligonucleotide Array Sequence Analysis , Prospective StudiesABSTRACT
Children were trained on a visual discrimination by stimulus shaping, stimulus fading, or trial-and-error. Those who did not acquire the conditional discrimination received a second, different training. More children initially trained by stimulus shaping acquired the conditional discrimination than did those initially trained with stimulus fading or trial-and-error. After a history of fading or trial-and-error training, children were less likely to acquire the conditional discrimination even after the more successful procedure of shaping was later used.
