Search

Unlabelled: Do children who remain in remission with epilepsy after withdrawal of anticonvulsive therapy still exhibit a different behaviour and performance-related abilities compared to healthy children? It was the aim of this study to investigate whether these children showed deviating psychiatric behaviour and/or neuropsychological function deficits as compared with a healthy control group and with children following occasional seizures which had never been treated. The study comprised 39 children with epilepsy after withdrawal of anticonvulsive therapy, 37 children with occasional seizures, and 39 matched healthy control children who were tested with regard to psychiatric and neuropsychological criteria. The patients were aged 6-15 years; 28 had a primarily generalised epilepsy, and 11 had a focal epilepsy. The patients remained free from seizures for more than 1 year. Psychiatric testing comprised the Child Behavior Checklist by Achenbach and Edelbrock and the Mannheim Parent Interview. Neuropsychological testing included non-verbal intelligence, visual perception, short-term memory and learning ability, arithmetics, movement coordination and motor skills, fine motor skills and verbal functions. After withdrawal from anticonvulsive therapy, the children with epilepsy did not exhibit any psychiatric disturbances, whereas those with occasional seizures frequently showed behaviour problems. After withdrawal from anticonvulsive therapy, no neuropsychological deficits were found in the children with epilepsy as compared to those with occasional seizures or to healthy children. Risk factors for poorer test results were first seizures occurring before the age of 3 years, delayed development, and neonatal problems.Conclusion: Children with epilepsy who remained without relapse after withdrawal from the anticonvulsive therapy did not show any psychiatric abnormalities and their performance was comparable to that of healthy control children, provided no risk factors were present. [ABSTRACT FROM AUTHOR]

ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. Here, we summarize the clinical, biochemical, and genetic data of four new ALG3-CDG patients, who were identified by a type I pattern of serum transferrin and the accumulation of Man 5 GlcNAc 2 -PP-dolichol in LLO analysis. Additional clinical symptoms observed in our patients comprise sensorineural hearing loss, right-descending aorta, obstructive cardiomyopathy, macroglossia, and muscular hypertonia. We add four new biochemically confirmed variants to the list of ALG3-CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c.1037A>G (p.N346S), and the intron variant c.296+4A>G. Furthermore, in Patient 1 an additional open-reading frame of 141 bp (AAGRP) in the coding region of ALG3 was identified. Additionally, we show that control cells synthesize, to a minor degree, a hybrid protein composed of the polypeptide AAGRP and ALG3 (AAGRP-ALG3), while in Patient 1 expression of this hybrid protein is significantly increased due to the homozygous variant c.160_196del (g.165C>T). By reviewing the literature and combining our findings with previously published data, we further expand the knowledge of this rare glycosylation defect., (© 2019 Wiley Periodicals, Inc.)

Questions: Do children with epilepsy exhibit psychiatric, intellectual or motoric symptoms compared to healthy children? How relevant is the type of epilepsy?., Methods: Children with diagnosed epilepsy aged 6 - 15 years were investigated by means of an established neuropsychological test program. Under anticonvulsive therapy the children were free from epileptic seizures. Exclusion criteria were neurological diseases and mental retardation. A structured interview was performed and psychiatric symptoms were registered. Tests performed included non-verbal intelligence, general motor skills, concentration ability, speech, mathematics, and find motor skills., Results: Altogether 102 children with epilepsy (absences N=27, grand-mal N=31, Rolandi N=17, symptomatic focal N=27) and a control group of healthy children of the same size were investigated. In children with epilepsy no psychiatric symptoms were observed. In all tests applied, children with epilepsy obtained poorer neuropsychological results than the healthy control group. Children with primarily generalised epilepsy exhibited markedly poorer results in data processing, speech, and fine motor skills as compared to the healthy group. Children with symptomatic focal epilepsy showed the poorest results with regard to all parameters tested., Conclusion: In the psychological test performed, children with epilepsy exhibited distinct differences compared to the control group, but no differences in the psychiatric evaluation.

We report on 10 patients between 3 and 18 years of age who had been treated in the neonatal and postneonatal period for hydrocephalus of various causes with a ventriculo-atrial or ventriculo-peritoneal shunt. Between the age of 2 and 17 years these children suffered from recurrent attacks of headache, vomiting bradycardia and lethargy suggesting shunt-obstruction. 8 children showed slowing of electrical activity in their EEG, 4 had papilledema on fundoscopy. Splayed sutures were found in one child by skull x-ray. In all the above cases the CT-headscans assessed by radiologists showed no evidence of shunt-obstruction. Only on direct comparison with previous CT-scans we were able to detect minimally dilated ventricles in 6 children. In all cases conservative treatment failed. Symptoms only ceased after surgical shunt-revision. In all children treated with shunts headache, vomiting and vegetative symptoms must be considered as signs of shunt-obstruction until proved otherwise. A negative CT-scan done while symptoms are present cannot rule out raised intracranial pressure. Only by direct comparison with previous CT-scans carried out during an asymptomatic period a minor dilatation of the ventricles can often be detected. This should be taken as a sign of shunt-obstruction.