RT Journal Article
T1 Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
A1 Keller, Mareike
A1 Brennenstuhl, Heiko
A1 Kuseyri Hübschmann, Oya
A1 Manti, Filippo
A1 Julia Palacios, Natalia Alexandra
A1 Friedman, Jennifer
A1 Yıldız, Yılmaz
A1 Koht, Jeanette Aimee
A1 Wong, Suet-Na
A1 Zafeiriou, Dimitrios I
A1 Lopez-Laso, Eduardo
A1 Pons, Roser
A1 Kulhanek, Jan
A1 Jeltsch, Kathrin
A1 Serrano-Lomelin, Jesus
A1 Garbade, Sven F
A1 Opladen, Thomas
A1 Goez, Helly
A1 Burlina, Alberto
A1 Cortes-Saladelafont, Elisenda
A1 Fernandez Ramos, Joaquin Alejandro
A1 Garcia-Cazorla, Angeles
A1 Hoffmann, Georg F
A1 Kiat Hong, Stacey Tay
A1 Honzík, Tomaš
A1 Kavecan, Ivana
A1 Kurian, Manju A
A1 Leuzzi, Vincenzo
A1 Lücke, Thomas
A1 Manzoni, Francesca
A1 Mastrangelo, Mario
A1 Mercimek-Andrews, Saadet
A1 Mir, Pablo
A1 Oppebøen, Mari
A1 Pearson, Toni S
A1 Sivri, H Serap
A1 Steel, Dora
A1 Stevanovic, Galina
A1 Fung, Cheuk-Wing
K1 Behavioral phenotype
K1 Cognitive impairment
K1 iNTD
K1 Intelligence
K1 Neurotransmitter deficiencies
K1 Quality of life
AB 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 topatients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, selfstimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achievedsignificantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits.
PB Wiley
YR 2021
FD 2021-07-07
LK http://hdl.handle.net/10668/18182
UL http://hdl.handle.net/10668/18182
LA en
NO Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julia Palacios NA, Friedman J, et al.  Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. J Inherit Metab Dis. 2021 Nov;44(6):1489-1502
DS RISalud
RD Apr 18, 2025