Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study

M. Strijker; L. A. Tseng; L. K. van Avezaath; M. A. M. Oude Luttikhuis; T. Ketelaar; C. R. Coughlin; M. A. Coenen; F. J. van Spronsen; M. Williams; M. C. de Vries; H. E. Westerlaan; L. A. Bok; C. D. M. van Karnebeek; R. J. Lunsing

doi:10.1016/j.ejpn.2021.06.001

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study

M. Strijker
, L. A. Tseng
, L. K. van Avezaath
, M. A. M. Oude Luttikhuis
, T. Ketelaar
, C. R. Coughlin
, M. A. Coenen
, F. J. van Spronsen
, M. Williams
, M. C. de Vries
, H. E. Westerlaan
, L. A. Bok
, C. D. M. van Karnebeek^*
, R. J. Lunsing^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

Background: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort. Methods: Neurological outcome was assessed in 24 patients (age 1-26 years); classified as normal, complex minor neurological dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) was derived from standardized IQ tests with five severity levels of intellectual disability (ID). MRI's and treatments were assessed. Results: Ten patients (42%) showed unremarkable neurological examination, 11 (46%) complex MND, and 3 (12%) cerebral palsy (CP). Minor coordination problems were identified in 17 (71%), fine motor disability in 11 (46%), posture/muscle tone deviancies in 11 (46%) and abnormal reflexes in 8 (33%). Six patients (25%) had an IQ > 85, 7 (29%) borderline, 7 (29%) mild, 3 (13%) moderate, and 1 severe ID. Cerebral ventriculomegaly on MRI was progressive in 11. Three patients showed normal neurologic exam, IQ, and MRI. Eleven patients were treated with pyridoxine only and 13 by additional lysine reduction therapy (LRT). LRT started at age

Original language	English
Pages (from-to)	112-120
Number of pages	9
Journal	European Journal of Paediatric Neurology
Volume	33
DOIs	https://doi.org/10.1016/j.ejpn.2021.06.001
Publication status	Published - Jul-2021

Keywords

Pyridoxine-dependent epilepsy
Vitamin B6
Neurological outcome
Lysine reduction therapies
Intellectual disability
MRI
LYSINE-RESTRICTED DIET
ARGININE SUPPLEMENTATION
SEIZURES
THERAPY
MUTATIONS
ANTIQUITIN
PHENOTYPE
DIAGNOSIS
LEADS

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Strijker, M., Tseng, L. A., van Avezaath, L. K., Luttikhuis, M. A. M. O., Ketelaar, T., Coughlin, C. R., Coenen, M. A., van Spronsen, F. J., Williams, M., de Vries, M. C., Westerlaan, H. E., Bok, L. A., van Karnebeek, C. D. M., & Lunsing, R. J. (2021). Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study. European Journal of Paediatric Neurology, 33, 112-120. https://doi.org/10.1016/j.ejpn.2021.06.001

@article{b0c964d1abaa4bf1ab37cd095d9d4a9b,

title = "Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study",

abstract = "Background: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort. Methods: Neurological outcome was assessed in 24 patients (age 1-26 years); classified as normal, complex minor neurological dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) was derived from standardized IQ tests with five severity levels of intellectual disability (ID). MRI's and treatments were assessed. Results: Ten patients (42\%) showed unremarkable neurological examination, 11 (46\%) complex MND, and 3 (12\%) cerebral palsy (CP). Minor coordination problems were identified in 17 (71\%), fine motor disability in 11 (46\%), posture/muscle tone deviancies in 11 (46\%) and abnormal reflexes in 8 (33\%). Six patients (25\%) had an IQ > 85, 7 (29\%) borderline, 7 (29\%) mild, 3 (13\%) moderate, and 1 severe ID. Cerebral ventriculomegaly on MRI was progressive in 11. Three patients showed normal neurologic exam, IQ, and MRI. Eleven patients were treated with pyridoxine only and 13 by additional lysine reduction therapy (LRT). LRT started at age",

keywords = "Pyridoxine-dependent epilepsy, Vitamin B6, Neurological outcome, Lysine reduction therapies, Intellectual disability, MRI, LYSINE-RESTRICTED DIET, ARGININE SUPPLEMENTATION, SEIZURES, THERAPY, MUTATIONS, ANTIQUITIN, PHENOTYPE, DIAGNOSIS, LEADS",

author = "M. Strijker and Tseng, \{L. A.\} and \{van Avezaath\}, \{L. K.\} and Luttikhuis, \{M. A. M. Oude\} and T. Ketelaar and Coughlin, \{C. R.\} and Coenen, \{M. A.\} and \{van Spronsen\}, \{F. J.\} and M. Williams and \{de Vries\}, \{M. C.\} and Westerlaan, \{H. E.\} and Bok, \{L. A.\} and \{van Karnebeek\}, \{C. D. M.\} and Lunsing, \{R. J.\}",

year = "2021",

month = jul,

doi = "10.1016/j.ejpn.2021.06.001",

language = "English",

volume = "33",

pages = "112--120",

journal = "European Journal of Paediatric Neurology",

issn = "1090-3798",

publisher = "ELSEVIER SCI LTD",

}

Strijker, M, Tseng, LA, van Avezaath, LK, Luttikhuis, MAMO, Ketelaar, T, Coughlin, CR, Coenen, MA , van Spronsen, FJ, Williams, M, de Vries, MC, Westerlaan, HE, Bok, LA, van Karnebeek, CDM & Lunsing, RJ 2021, 'Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study', European Journal of Paediatric Neurology, vol. 33, pp. 112-120. https://doi.org/10.1016/j.ejpn.2021.06.001

TY - JOUR

T1 - Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study

AU - Strijker, M.

AU - Tseng, L. A.

AU - van Avezaath, L. K.

AU - Luttikhuis, M. A. M. Oude

AU - Ketelaar, T.

AU - Coughlin, C. R.

AU - Coenen, M. A.

AU - van Spronsen, F. J.

AU - Williams, M.

AU - de Vries, M. C.

AU - Westerlaan, H. E.

AU - Bok, L. A.

AU - van Karnebeek, C. D. M.

AU - Lunsing, R. J.

PY - 2021/7

Y1 - 2021/7

N2 - Background: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort. Methods: Neurological outcome was assessed in 24 patients (age 1-26 years); classified as normal, complex minor neurological dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) was derived from standardized IQ tests with five severity levels of intellectual disability (ID). MRI's and treatments were assessed. Results: Ten patients (42%) showed unremarkable neurological examination, 11 (46%) complex MND, and 3 (12%) cerebral palsy (CP). Minor coordination problems were identified in 17 (71%), fine motor disability in 11 (46%), posture/muscle tone deviancies in 11 (46%) and abnormal reflexes in 8 (33%). Six patients (25%) had an IQ > 85, 7 (29%) borderline, 7 (29%) mild, 3 (13%) moderate, and 1 severe ID. Cerebral ventriculomegaly on MRI was progressive in 11. Three patients showed normal neurologic exam, IQ, and MRI. Eleven patients were treated with pyridoxine only and 13 by additional lysine reduction therapy (LRT). LRT started at age

AB - Background: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort. Methods: Neurological outcome was assessed in 24 patients (age 1-26 years); classified as normal, complex minor neurological dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) was derived from standardized IQ tests with five severity levels of intellectual disability (ID). MRI's and treatments were assessed. Results: Ten patients (42%) showed unremarkable neurological examination, 11 (46%) complex MND, and 3 (12%) cerebral palsy (CP). Minor coordination problems were identified in 17 (71%), fine motor disability in 11 (46%), posture/muscle tone deviancies in 11 (46%) and abnormal reflexes in 8 (33%). Six patients (25%) had an IQ > 85, 7 (29%) borderline, 7 (29%) mild, 3 (13%) moderate, and 1 severe ID. Cerebral ventriculomegaly on MRI was progressive in 11. Three patients showed normal neurologic exam, IQ, and MRI. Eleven patients were treated with pyridoxine only and 13 by additional lysine reduction therapy (LRT). LRT started at age

KW - Pyridoxine-dependent epilepsy

KW - Vitamin B6

KW - Neurological outcome

KW - Lysine reduction therapies

KW - Intellectual disability

KW - MRI

KW - LYSINE-RESTRICTED DIET

KW - ARGININE SUPPLEMENTATION

KW - SEIZURES

KW - THERAPY

KW - MUTATIONS

KW - ANTIQUITIN

KW - PHENOTYPE

KW - DIAGNOSIS

KW - LEADS

U2 - 10.1016/j.ejpn.2021.06.001

DO - 10.1016/j.ejpn.2021.06.001

M3 - Article

SN - 1090-3798

VL - 33

SP - 112

EP - 120

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

ER -

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study

Abstract

Keywords

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