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Goldenhar syndrome and autistic behaviour
M Landgren1, C Gillberg, K Strömland
1Department of Child Neuropsychiatry, University of Göteborg, Sweden.
Developmental Medicine and Child Neurology
|November 1, 1992
Summary
This study describes two girls with Goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder. The findings suggest that neural damage during the second trimester may contribute to autistic disorder in some cases.
Area of Science:
- Neurodevelopmental disorders
- Genetics and congenital anomalies
Background:
- Goldenhar syndrome, also known as oculo-auriculovertebral spectrum disorder, is a congenital condition characterized by craniofacial and vertebral abnormalities.
- Autistic disorder is a neurodevelopmental condition affecting social interaction and communication.
Observation:
- Two cases of girls with concomitant Goldenhar syndrome and autistic disorder are presented.
- One patient was diagnosed with Goldenhar syndrome early in infancy and autistic disorder later, while the other was diagnosed with Goldenhar syndrome upon referral for evaluation of autistic symptoms.
Findings:
- Physical abnormalities in Goldenhar syndrome suggest neural structure damage during the second or late first trimester of gestation.
- The presented cases indicate a potential link between second-trimester neural damage and the development of autistic disorder.
Implications:
- This research suggests a possible etiological factor for autistic disorder, specifically neural damage during a critical developmental period.
- Understanding the relationship between congenital anomalies like Goldenhar syndrome and neurodevelopmental disorders can inform early diagnosis and intervention strategies.