Autism‑Associated Symptom Profiles in PKU
Research type
Research Study
Full title
Mapping Autism‑Associated Symptom Profiles in Children with PKU
IRAS ID
369089
Contact name
Anita MacDonald
Contact email
Sponsor organisation
Birmingham Women's and Children's NHS Foundation Trust
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
0 years, 5 months, 31 days
Research summary
Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterised by impaired communication, difficulties in social interaction, and restricted or repetitive behaviours. Their aetiology is multifactorial, involving both genetic and neurological factors. Phenylketonuria (PKU) is a metabolic disorder that, even when treated early, is associated with deficits in executive functions, including inhibition, working memory, planning, attention, and cognitive flexibility. These cognitive features overlap with those observed in ASD, and co-occurrence of ASD and PKU has been documented, suggesting that some individuals with PKU may exhibit autistic-like behaviours, such as rigid routines, sensory sensitivities, social communication difficulties, and emotional dysregulation. Recognition of ASD traits in PKU is important, as they may impact dietary adherence, phenylalanine control, and overall quality of life. This exploratory study aims to investigate ASD in children and adolescents with PKU in the UK by assessing: 1) the prevalence of confirmed ASD diagnoses, 2) the presence of caregiver-reported ASD traits, and 3) the impact of these traits on daily life and PKU management. A cross-sectional online questionnaire will be distributed to caregivers of children and adolescents with PKU (ages 4 - 16 years). The questionnaire includes multiple-choice open-ended questions, and has been developed with input from dietitians, psychologists, survey methodology experts, and a patient/public involvement group to ensure clarity and accessibility.
REC name
South Central - Hampshire B Research Ethics Committee
REC reference
26/SC/0093
Date of REC Opinion
31 Mar 2026
REC opinion
Further Information Favourable Opinion