Frontiers in psychiatry · 2026
Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.
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Gozdanek Aleksandra, Krzywdzińska-Rogowska Amanda, Remberk Barbara, Bauer Anna, Sykut-Cegielska Jolanta
Аннотация
BACKGROUND: Classical galactosemia (CG) is a rare inherited metabolic disorder associated with long-term neurodevelopmental, language, cognitive and psychosocial difficulties. Social-communication problems may overlap clinically with autism spectrum disorder (ASD), but paediatric data based on standardised ASD assessment remain limited.
METHODS: The study included 50 children and adolescents aged 6-17 years with confirmed classical galactosemia. Intellectual functioning was assessed using the Stanford-Binet Intelligence Scales, Fifth Edition. Autism spectrum disorder (ASD) symptoms were evaluated using the Mini International Neuropsychiatric Interview for Children and Adolescents (MINI-KID), Autism Spectrum Rating Scales (ASRS, parent version), Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), as well as comprehensive clinical assessment by a child and adolescent psychiatrist.
RESULTS: A clinical diagnosis of ASD was established in 36% of participants. Results indicating ASD symptoms were obtained in 56% of children using MINI-KID, 48% using ADOS-2, and 30% based on overall ASRS scores. Statistically significant moderate negative correlations were found between IQ and ASD symptom severity, particularly in social communication, social-emotional reciprocity, and attention domains. Selected long-term disease-related manifestations (white matter abnormalities and osteopenia/osteoporosis) were more frequent in children with ASD symptoms identified by MINI-KID.
CONCLUSIONS: Children and adolescents with classical galactosemia in this clinical cohort frequently presented ASD-related social-communication difficulties, and a substantial proportion met criteria for a clinical ASD diagnosis.
METHODS: The study included 50 children and adolescents aged 6-17 years with confirmed classical galactosemia. Intellectual functioning was assessed using the Stanford-Binet Intelligence Scales, Fifth Edition. Autism spectrum disorder (ASD) symptoms were evaluated using the Mini International Neuropsychiatric Interview for Children and Adolescents (MINI-KID), Autism Spectrum Rating Scales (ASRS, parent version), Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), as well as comprehensive clinical assessment by a child and adolescent psychiatrist.
RESULTS: A clinical diagnosis of ASD was established in 36% of participants. Results indicating ASD symptoms were obtained in 56% of children using MINI-KID, 48% using ADOS-2, and 30% based on overall ASRS scores. Statistically significant moderate negative correlations were found between IQ and ASD symptom severity, particularly in social communication, social-emotional reciprocity, and attention domains. Selected long-term disease-related manifestations (white matter abnormalities and osteopenia/osteoporosis) were more frequent in children with ASD symptoms identified by MINI-KID.
CONCLUSIONS: Children and adolescents with classical galactosemia in this clinical cohort frequently presented ASD-related social-communication difficulties, and a substantial proportion met criteria for a clinical ASD diagnosis.