Treatment of Angelman Syndrome: An Educational Article and Expert Opinion

Advisor Doctor and Expert Trainer, Baghdad Medical City and Iraqi Ministry of Health Baghdad, Iraq

*Corresponding Author: Aamir Jalal Al-Mosawi, Advisor Doctor and Expert Trainer, Baghdad Medical City and Iraqi Ministry of Health Baghdad, Iraq, Email: [email protected]

Received Date: October 14, 2025

Published Date: November 06, 2025

Citation: Al-Mosawi AJ. (2025). Treatment of Angelman Syndrome: An Educational Article and Expert Opinion. Mathews J Psychiatry Ment Health. 10(2):55.

Copyrights: Al-Mosawi AJ. (2025).

ABSTRACT

Background: Angelman syndrome, historically termed “happy puppet syndrome,” is a rare neurodevelopmental disorder characterized by severe mental retardation, epilepsy, ataxic gait, and a distinctively happy demeanor. Since its first description by Harry Angelman in 1965, the syndrome has been recognized worldwide, though reports from Iraq have been absent due to limited genetic diagnostic infrastructure and awareness. Objective: To present the first documented case of Angelman syndrome in Iraq, detailing its clinical, neuroimaging, and therapeutic features, and to highlight the significance of structured clinical recognition and management of rare genetic disorders in the region. Patients and methods: A 21-year-old Iraqi female with lifelong developmental delay, epilepsy, and characteristic behavioral and craniofacial features was clinically evaluated. Developmental, neurological, and family histories were obtained. MRI of the brain was performed using axial T1, DWI, FLAIR, and T2-weighted sequences. The patient was treated with a multi-modal regimen targeting seizure control, cognitive function, and neuroprotection, including lamotrigine, acetazolamide, citicoline, piracetam, cerebrolysin, and nutritional support. Results: The patient exhibited hallmark features of Angelman syndrome: frequent laughter, moderate mental retardation, severe speech impairment, puppet-like gait, and characteristic craniofacial dysmorphism (long narrow face, flat occiput, wide mouth, irregular teeth, and strabismus). MRI demonstrated high T2/FLAIR signals in periatrial and occipital white matter with parieto-occipital atrophy and mild ventricular dilatation, consistent with demyelinating changes previously described in Angelman syndrome. After switching from valproate to lamotrigine (100 mg twice daily), seizures ceased. Adjunctive therapy with citicoline, piracetam, cerebrolysin, acetazolamide, and nutritional supplementation led to improve speech gains, gait impairment persisted. Conclusion: This case represents the first confirmed report of Angelman syndrome in Iraq. The patient’s clinical and MRI findings align with international descriptions of Angelman syndrome. The observed therapeutic response particularly to lamotrigine and adjunct neurotrophic agents supports their potential benefit in managing epilepsy and cognitive dysfunction in Angelman syndrome. The report underscores the importance of developing clinical genetics capacity in Iraq for improved recognition and management of rare neurodevelopmental disorders.

Keywords: Angelman Syndrome, Treatment, Educational Article, Expert Opinion.