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ADHD, autism and neuroradiological complications among phenylketonuric children in Upper Egypt

Khaled Saad1, Yasser Elserogy2, Ahmed A Abdel Rahman2

  • 1Department of Pediatrics, Assiut University, Asyût, 71516, Egypt. ksaad8@yahoo.com.

Acta Neurologica Belgica
|January 11, 2015
PubMed

Insights

Early diagnosis and continuous treatment of phenylketonuria (PKU) in children lead to good outcomes. However, ongoing monitoring for neurological and behavioral issues is crucial for managing this metabolic disorder.

Area of Science:

  • Neuroscience
  • Pediatrics
  • Metabolic Disorders

Background:

  • Phenylketonuria (PKU) is a rare genetic disorder.
  • Early detection and treatment are vital for preventing severe health consequences.
  • Neuropsychological outcomes in treated PKU patients require further investigation.

Purpose of the Study:

  • To assess the neuropsychological status of children with early and continuously treated PKU.
  • To identify potential neurological complications and behavioral problems in this cohort.
  • To evaluate the effectiveness of current management strategies in Assiut, Egypt.

Main Methods:

  • A cohort of 34 children with PKU meeting inclusion criteria were studied.
  • Evaluations included detailed history, neurological examination, and standardized assessments.
  • Neuroimaging (MRI) and electroencephalography (EEG) were utilized.

Main Results:

  • Children with early-diagnosed and treated PKU generally have a good prognosis.
  • Increased risk for neurological complications and behavioral problems persists.
  • Neuropsychological deficits and behavioral issues were observed in some patients.

Conclusions:

  • Neonatal screening for PKU is highly recommended in Egypt for early detection and management.
  • Continuous neuropsychological and MRI assessments are essential for PKU children.
  • Proactive management can mitigate long-term health risks associated with PKU.

Keywords:
ADHDAutismChildrenPhenylketonuria

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