Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
- Keller, Mareike
- Brennenstuhl, Heiko
- Hübschmann, Oya Kuseyri
- Manti, Filippo
- Palacios, Natalia Alexandra Julia
- Friedman, Jennifer
- Yıldız, Yılmaz
- Koht, Jeanette Aimee
- Wong, Suet-Na
- Zafeiriou, Dimitrios I.
- López-Laso, Eduardo
- Pons, Roser
- Kulhánek, Jan
- Jeltsch, Kathrin
- Serrano-Lomelin, Jesús
- Garbade, Sven F.
- Opladen, Thomas
- Goez, Helly
- Burlina, Alberto
- Cortès-Saladelafont, Elisenda
- Fernández-Ramos, Joaquín Alejandro
- García-Cazorla, Ángeles
- Hoffmann, Georg F.
- Tay Kiat Hong, Stacey
- Honzík, Tomáš
- Kavecan, Ivana
- Kurian, Manju A.
- Leuzzi, Vincenzo
- Lücke, Thomas
- Manzoni, Francesca
- Mastrangelo, Mario
- Mercimek-Andrews, Saadet
- Mir, Pablo
- Oppebøen, Mari
- Pearson, Toni S.
- Sivri, H. Serap
- Steel, Dora
- Stevanović, Galina
- Fung, Cheuk-Wing
DOIAbstract
Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 ...
Add to ORKG