Τίτλος:
Assessment of intellectual impairment, health-related quality of life,
and behavioral phenotype in patients with neurotransmitter related
disorders: Data from the iNTD registry
Περίληψη:
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 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,
self-stimulatory 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
achieved significantly 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.
Συγγραφείς:
Keller, Mareike
Brennenstuhl, Heiko
Huebschmann, Oya Kuseyri and
Manti, Filippo
Julia Palacios, Natalia Alexandra
Friedman,
Jennifer
Yildiz, Yilmaz
Koht, Jeanette Aimee
Wong, Suet-Na
and Zafeiriou, Dimitrios I.
Lopez-Laso, Eduardo
Pons, Roser and
Kulhanek, Jan
Jeltsch, Kathrin
Serrano-Lomelin, Jesus and
Garbade, Sven F.
Opladen, Thomas
Goez, Helly
Burlina,
Alberto
Cortes-Saladelafont, Elisenda
Fernandez Ramos, Joaquin
Alejandro
Garcia-Cazorla, Angeles
Hoffmann, Georg F.
Kiat
Hong, Stacey Tay
Honzik, Tomas
Kavecan, Ivana
Kurian, Manju
A.
Leuzzi, Vincenzo
Luecke, Thomas
Manzoni, Francesca and
Mastrangelo, Mario
Mercimek-Andrews, Saadet
Mir, Pablo and
Oppeboen, Mari
Pearson, Toni S.
Sivri, H. Serap
Steel, Dora
and Stevanovic, Galina
Fung, Cheuk-Wing
Neurotransmitter Related
Disorders
