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Detection of phenylketonuria in autistic and psychotic children
Insights
Urinary screening for phenylketonuria (PKU) identified three children with autism. Early diagnosis and low-phenylalanine diets significantly improved their development and functioning.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Autism Spectrum Disorder (ASD) and atypical childhood psychosis are complex developmental disorders.
- Early diagnosis and intervention are crucial for improving outcomes in developmental disturbances.
Observation:
- Standard urinary amino acid screening was performed on 65 children with pervasive developmental disturbances.
- Three children exhibited abnormal screening results suggestive of an underlying metabolic disorder.
Findings:
- Abnormal screening results were confirmed as phenylketonuria (PKU) through repeat urinary testing and blood phenylalanine levels.
- Children diagnosed with PKU showed marked improvements in functioning and developmental level after initiating low-phenylalanine diets.
Implications:
- Urinary genetic screening for metabolic disorders like PKU should be a routine part of the evaluation for children with developmental disturbances.
- Early detection of treatable metabolic conditions can significantly alter the developmental trajectory of affected children.
Abstract:
Sixty-five children with pervasive developmental disturbance (autism and atypical childhood psychosis) were screened by standard urinary amino acid detection testing methods. Three of the children showed abnormalities in these screening tests, leading to the diagnosis of phenylketonuria. This was verified by repeated urinary testing and blood phenylalanine determinations. The children with phenylketonuria were treated with low-phenylalanine diets and have shown improvement in functioning and developmental level since treatment. Urinary genetic screening should be a standard test for all children being evaluated for serious developmental disturbances of childhood.