Pyridoxine-Dependent Seizures: A Family Phenotype that Leads to Severe Cognitive Deficits, Regardless of Treatment Regime

Autor/inn/en	Rankin, Peter M; Harrison, Sue; Chong, W. K.; Boyd, Stewart; Aylett, Sarah E.
Titel	Pyridoxine-Dependent Seizures: A Family Phenotype that Leads to Severe Cognitive Deficits, Regardless of Treatment Regime
Quelle	In: Developmental Medicine & Child Neurology, 49 (2007) 4, S.300-305 (6 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0012-1622
DOI	10.1111/j.1469-8749.2007.00300.x
Schlagwörter	Siblings; Learning Disabilities; Seizures; Genetics; Neuropsychology; Males; Drug Therapy; Neurological Impairments; Diagnostic Tests; Cognitive Development + Suchen Sie Ihr Suchwort? Sibling; Geschwister; Learning handicap; Lernbehinderung; Anfallsleiden; Humangenetik; Neuropsychologie; Male; Männliches Geschlecht; Neurodegenerative Erkrankung; Diagnostic test; Diagnostischer Test; Kognitive Entwicklung
Abstract	The neuropsychological and clinical histories of three male siblings affected by pyridoxine-dependent seizures with known homozygous antiquitin mutations are presented. Neuropsychological evaluation is reported from when the siblings were 11, 9, and 7 years of age. Two of the siblings had received early pyridoxine treatment (antenatal, 2-4 wks into pregnancy) and one had received late treatment (2 mo postnatal). However, there was no differential effect on cognitive outcome, with all three siblings having moderate to severe learning disability. Unlike previously reported cases that received early postnatal treatment, none of the siblings had relatively preserved non-verbal cognitive skills. Equally, their intellectual performance over time did not increase above the 1st centile despite high maintenance doses of vitamin B6 (range 16-26 mg/kg/d), and mild sensory neuropathy was reported on nerve conduction studies. The findings in these siblings challenge assumptions that early and high dose pyridoxine treatment can benefit cognition in this population and suggest routine electromyography monitoring may be beneficial. (Contains 2 tables and 2 figures.) (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10