Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study - Takeaways - MDSpire

Clinical Assessment of Autism Spectrum Symptoms and Diagnoses in Children and Adolescents with Classical Galactosemia: A Descriptive Cohort Study

  • By

  • Aleksandra Gozdanek

  • Amanda Krzywdzińska-Rogowska

  • Barbara Remberk

  • Anna Bauer

  • Jolanta Sykut-Cegielska

  • July 21, 2026

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  • 1

    The study assessed 50 children and adolescents with classical galactosemia for autism spectrum disorder (ASD) symptoms using standardized tools.

  • 2

    A clinical diagnosis of ASD was established in 36% of participants, indicating a significant overlap between classical galactosemia and ASD.

  • 3

    ASD symptoms were identified in 56% of children using the MINI-KID, 48% with ADOS-2, and 30% based on ASRS scores.

  • 4

    Moderate negative correlations were found between IQ and ASD symptom severity, particularly in social communication and attention.

  • 5

    Children with ASD symptoms identified by MINI-KID had a higher frequency of long-term complications like white matter abnormalities.

Original Source(s)

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

  • by Aleksandra Gozdanek, Amanda Krzywdzińska-Rogowska, Barbara Remberk, Anna Bauer, Jolanta Sykut-Cegielska

  • July 21, 2026

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