Related Experiment Videos
Autistic disorders in children with CHARGE association
E Fernell1, V A Olsson, C Karlgren-Leitner
1Department of Paediatrics, Huddinge University Hospital, Sweden.
Developmental Medicine and Child Neurology
|June 4, 1999
Summary
CHARGE association, a rare disorder, can co-occur with autistic disorder in children. Early recognition and a multidisciplinary approach are crucial for managing these complex cases.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Genetics
Background:
- CHARGE association is a complex genetic disorder with diverse clinical manifestations.
- Autistic disorder is a neurodevelopmental condition characterized by social and communication deficits.
- The co-occurrence of CHARGE association and autistic disorder presents unique diagnostic and management challenges.
Observation:
- Reported are three children with CHARGE association and concomitant autistic disorder.
- Two of these children also presented with mental retardation.
- Cerebral maldevelopment or dysfunction is a known feature in CHARGE association.
Findings:
- Autism in CHARGE association may stem from neuro-endocrine dysfunction.
- The neural crest has been implicated in the etiology of CHARGE association.
- Autistic behaviors can be overlooked in children with CHARGE association due to their numerous medical issues.
Implications:
- A comprehensive, multidisciplinary approach is essential for the assessment, treatment, and habilitation of children with CHARGE association and autism.
- Increased awareness of this comorbidity is vital for timely diagnosis and intervention.
- Further research into the neurobiological underpinnings of autism in CHARGE association is warranted.