Buchumschlag

AADCdeficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Aromaticl-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, and autonomic symptoms. This retrospective st...

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Hauptverfasser: Pearson, Toni S. (VerfasserIn) , Gilbert, Laura (VerfasserIn) , Opladen, Thomas (VerfasserIn) , Garcia-Cazorla, Angeles (VerfasserIn) , Mastrangelo, Mario (VerfasserIn) , Leuzzi, Vincenzo (VerfasserIn) , Tay, Stacy K. H. (VerfasserIn) , Sykut-Cegielska, Jolanta (VerfasserIn) , Pons, Roser (VerfasserIn) , Mercimek-Andrews, Saadet (VerfasserIn) , Kato, Mitsuhiro (VerfasserIn) , Luecke, Thomas (VerfasserIn) , Oppeboen, Mari (VerfasserIn) , Kurian, Manju A. (VerfasserIn) , Steel, Dora (VerfasserIn) , Manti, Filippo (VerfasserIn) , Meeks, Kathleen D. (VerfasserIn) , Jeltsch, Kathrin (VerfasserIn) , Flint, Lisa (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: Sept 2020
In: Journal of inherited metabolic disease
Year: 2020, Jahrgang: 43, Heft: 5, Pages: 1121-1130
ISSN:1573-2665
DOI:10.1002/jimd.12247
Online-Zugang:Resolving-System, Volltext: https://doi.org/10.1002/jimd.12247
Volltext
Verfasserangaben:Toni S. Pearson, Laura Gilbert, Thomas Opladen, Angeles Garcia-Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, Stacy K.H. Tay, Jolanta Sykut-Cegielska, Roser Pons, Saadet Mercimek-Andrews, Mitsuhiro Kato, Thomas Luecke, Mari Oppeboen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint
Beschreibung
Zusammenfassung:Aromaticl-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurodevelopmental disorder characterized by impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin, leading to a complex syndrome of motor, behavioral, and autonomic symptoms. This retrospective study assessed the symptoms and developmental outcome of a large international cohort of patients with AADCD via physician and/or caregiver responses to a detailed, standardized questionnaire. Sixty-three patients (60% female; ages 6 months-36 years, median 7 years; 58 living) from 23 individual countries participated. Common symptoms at onset (median age 3 months, range 0-12 months) were hypotonia, developmental delay, and/or oculogyric crises. Oculogyric crises were present in 97% of patients aged 2 to 12 years, occurred in the majority of patients in all age groups, and tended to be most severe during early childhood. Prominent non-motor symptoms were sleep disturbance, irritable mood, and feeding difficulties. The majority of subjects (70%) had profound motor impairment characterized by absent head control and minimal voluntary movement, while 17% had mild motor impairment and were able to walk independently. Dopamine agonists were the medications most likely to produce some symptomatic benefit, but were associated with dose-limiting side effects (dyskinesia, insomnia, irritability, vomiting) that led to discontinuation 25% of the time. The age distribution of our cohort (70% of subjects under age 13 years) and the observation of a greater proportion of patients with a more severe disease phenotype in the younger compared to the older patients, both suggest a significant mortality risk during childhood for patients with severe disease.
Beschreibung:Gesehen am 15.01.2021
Beschreibung:Online Resource
ISSN:1573-2665
DOI:10.1002/jimd.12247

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