Clinical Assessment of Autism Spectrum Symptoms in Classical Galactosemia

Overview

This study evaluates autism spectrum disorder (ASD) symptoms in children with classical galactosemia (CG), revealing that 36% of participants met clinical criteria for ASD. Significant correlations were found between IQ and ASD symptom severity, particularly in social communication and emotional reciprocity.

Background

Classical galactosemia is a rare metabolic disorder that can lead to various neurodevelopmental challenges, including difficulties in social communication that may overlap with autism spectrum disorder (ASD). Understanding the prevalence and nature of ASD symptoms in children with CG is crucial for accurate diagnosis and management.

Data Highlights

Key Findings

• 36% of children with CG received a clinical diagnosis of ASD.
• 56% showed ASD symptoms using the MINI-KID assessment.
• 48% exhibited ASD symptoms according to the ADOS-2.
• 30% of participants had ASD symptoms based on ASRS scores.
• Moderate negative correlations were found between IQ and severity of ASD symptoms.
• Long-term manifestations like white matter abnormalities were more frequent in children with ASD symptoms identified by MINI-KID.

Clinical Implications

Standardized assessments are important for identifying ASD symptoms in children with classical galactosemia.

Conclusion

A substantial proportion of children and adolescents with classical galactosemia met criteria for a clinical ASD diagnosis.

Related Resources & Content

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8. Frontiers | Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study
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