13 research outputs found
Outcome assessment in epilepsy: available rating scales for adults and methodological issues pertaining to the development of scales for childhood epilepsy.
During the past decade, several scales have been developed to improve the assessment of outcome in epilepsy. These scales were developed for adults and their reliability, validity and usefulness have been established. However, there is also a need for alternative measures of outcome in childhood epilepsy, especially a measure of seizure severity (SS) and measures pertaining to quality of life (QoL). Four of these adult scales are reviewed and compared to examine their applicability in childhood epilepsy. Two important methodological differences between them are discussed: (a) patient self-report vs. physician-based scales and (b) generic vs. disease-specific instruments. QoL in epilepsy is briefly reviewed. Severity of seizures and severity of side-effects are relatively neglected areas of importance to QoL in epilepsy. The existing instruments for adults are not appropriate for children in their present form. Some specific methodological issues, which are relevant for the development of scales for children with epilepsy, are subsequently discussed. New scales pertaining to physical and psychosocial aspects of QoL in childhood epilepsy are being developed. In the near future, data on their reliability, validity and usefulness will become available. A combination of scales focusing on specific aspects of QoL, including SS and severity of adverse effects, and more traditional clinical data may provide a more complete assessment of outcome in childhood epilepsy
Parent-completed scales for measuring seizure severity and severity of side-effects of antiepileptic drugs in childhood epilepsy: development and psychometric analysis.
We have developed two outcome measures for childhood epilepsy: a seizure severity (SS) scale and a side-effects (SE) scale. Both scales have been designed for completion by parents. The scales were tested in two pilot phases and the results of this stepwise analysis are described here. The final scales' psychometric properties were assessed in a group of 80 children with active epilepsy, representative of the population at whom the scales were aimed: children with chronic epilepsy, aged 4-16 years, including all seizure types and epilepsies, as well as children with neurological comorbidity. The SS scale and SE scale showed good internal consistency and test-retest stability. Although there was a significant positive correlation between the SS scale and the SE scale, this was low, indicating that the scales measure a different clinical trait. The SE scale consisted of two subscales: a Toxic subscale, measuring the severity of dose-related side-effects, and a Chronic subscale, measuring the severity of long-term behavioural and cognitive side-effects. These subscales for side-effects showed a high correlation and can be used as a joint scale. These scales have the potential to improve outcome assessment in childhood epilepsy and they can be used to assess important aspects of quality of life in this population
Benign familial infantile convulsions: A clinical study of seven Dutch families
Benign familial infantile convulsions (BFIC) is a recently identified partial epilepsy syndrome with onset between 3 and 12 months of age. We describe the clinical characteristics and outcome of 43 patients with BFIC from six Dutch families and one Dutch-Canadian family and the encountered difficulties in classifying the syndrome. Four families had a pure BFIC phenotype; in two families BFIC was accompanied by paroxysmal kinesigenic dyskinesias; in one family BFIC was associated with later onset focal epilepsy in older generations. Onset of seizures was between 6 weeks and 10 months, and seizures remitted before the age of 3 years in all patients with BFIC. In all, 29 (67%) of the 43 patients had been treated with anti-epileptic drugs for a certain period of time. BFIC is often not recognized as (hereditary) epilepsy by the treating physician. Seizures often remit shortly after the start of anti-epileptic drugs but, because of the benign course of the syndrome and the spontaneous remission of seizures, patients with low seizure fr
Mutations in TITF-1 are associated with benign hereditary chorea
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant
movement disorder. The early onset of symptoms (usually before the age of
5 years) and the observation that in some BHC families the symptoms tend
to decrease in adulthood suggests that the disorder results from a
developmental disturbance of the brain. In contrast to Huntington disease
(MIM 143100), BHC is non-progressive and patients have normal or slightly
below normal intelligence. There is considerable inter- and intrafamilial
variability, including dysarthria, axial dystonia and gait disturbances.
Previously, we identified a locus for BHC on chromosome 14 and
subsequently identified additional independent families linked to the same
locus. Recombination analysis of all chromosome 14-linked families
resulted initially in a reduction of the critical interval for the BHC
gene to 8.4 cM between markers D14S49 and D14S278. More detailed analysis
of the critical region in a small BHC family revealed a de novo deletion
of 1.2 Mb harboring the TITF-1 gene, a homeodomain-containing
transcription factor essential for the organogenesis of the lung, thyroid
and the basal ganglia. Here we report evidence that mutations in TITF-1
are associated with BHC
The early prognosis of epilepsy in childhood: The prediction of a poor outcome. The Dutch Study of Epilepsy in Childhood
Epilepsy in childhood: an audit of clinical practice.
It is not known how many children with epilepsy may not need treatment with antiepileptic drugs (AEDs), how many respond unsatisfactorily to subsequent treatment regimens, and how many achieve "acceptable control" despite lack of remission. METHODS: In a prospective multicenter hospital-based study, 494 children with a broad range of seizure types and types of epilepsy were followed up for at least 2 years. There was no standard treatment protocol. We describe the treatment strategies applied to these children by the neurologists in charge and outcome with respect to remission from seizures. RESULTS: Treatment was initially withheld in 29% of the children, and after 2 years 17% still had not received any AEDs. There were no serious complications caused by withholding treatment. Of the children treated with AEDs, 60% were still using the first AED after 2 years; 80% received monotherapy and 20%, polytherapy. Children with severe symptomatic epilepsies, such as the West or Lennox-Gastaut syndrome, received polytherapy early on in the course of treatment. When 3 regimens had failed, the chance of achieving a remission of more than 1 year with subsequent regimens was 10%. Nevertheless, 15 of 50 children receiving AEDs in whom the "longest remission ever" was less than 6 months did achieve acceptable seizure control according to the neurologist in charge of treatment. Hence, of 494 children, only 35 (7%) developed an intractable form of epilepsy, defined as failure to bring seizures under acceptable control. CONCLUSIONS: A substantial percentage of children with new-onset epilepsy did not need treatment with AEDs. Chances of achieving a good outcome declined with subsequent treatment regimens. Not all children with recurrent seizures were suffering from intractable epilepsy; some had achieved acceptable control of seizures
Course and prognosis of childhood epilepsy: 5-year follow-up of the Dutch study of epilepsy in childhood.
Knowing the prognosis of epilepsy will undoubtedly influence the treatment
strategy. This study aimed to define the prospects of newly diagnosed
childhood epilepsy, assess the dynamics of its course, identify relevant
variables and develop models to assess the individual prognosis. Four
hundred and fifty-three children with newly diagnosed epilepsy were
followed for 5 years. Terminal remission at 5 years (TR5) was compared
with terminal remission at 2 years (TR2) and with the longest remission
during follow-up. Variables defined at intake and at 6 months of follow-up
were analysed for their prognostic relevance. In multivariate analyses,
combinations of variables were tested to develop reliable models for the
calculation of the individual prognosis. Data on treatment, course during
follow-up and epilepsy syndromes were also studied. Three hundred and
forty-five children (76%) had a TR5 >1 year, 290 (64%) >2 years and 65
(14%) had not had any seizure during the entire follow-up. Out of 108
children (24%) with TR5 <1 year, 27 were actually intractable at 5 years.
Medication was started in 388 children (86%). In 227 of these (59%),
anti-epileptic drugs (AEDs) could be withdrawn. A TR5 >1 year was attained
by 46% on one AED, on the second AED by 19%, and by 9% on all additional
AED regimes. Almost 60% of the children treated with a second or
additional AED regime had a TR5 >1 year. Variables predicting the outcome
at intake were aetiology, history of febrile seizures and age. For intake
and 6-month variables combined, sex, aetiology, postictal signs, history
of febrile seizures and TR at 6 months were significant. The model derived
from intake variables only predicted TR5 <1 year correctly in 36% and TR5
>1 year in 85% (sensitivity 0.65, specificity 0.64). The corresponding
values for the model derived from intake and 6-month variables were 43 and
88% (sensitivity 0.69, specificity 0.71). The course of the epilepsy was
constantly favourable in 51%, steadily poor in 17%, improving in 25% and
deteriorating in 6%. Intractability was in part only a temporary
phenomenon. The outcome at 5 years in this cohort of children with newly
diagnosed epilepsy was favourable in 76%; 64% were off medication at that
time. Almost a third of the children had a fluctuating course; improvement
was clearly more common than deterioration. After failure of the first
AED, treatment can still be successful. Models predicting the outcome have
fewer misclassifications when predicting a long terminal remission than
when predicting continuing seizures
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
Background: Porencephaly (cystic cavities of the brain) is caused by perinatal vascular accidents from
various causes. Several familial cases have been described and autosomal dominant inheritance linked to
chromosome 13q has been suggested. COL4A1 is an essential component in basal membrane stability.
Mouse mutants bearing an in-frame deletion of exon 40 of Col4a1 either die from haemorrhage in the
perinatal period or have porencephaly in survivors. A report of inherited mutations in COL4A1 in two
families has shown that familial porencephaly may have the same cause in humans.
Objective: To describe three novel COL4A1 mutations.
Results: The three mutations occurred in three unrelated Dutch families. There were two missense mutations
of glycine residues predicted to result in abnormal collagen IV assembly, and one mutation predicted to
abolish the traditional COL4A1 start codon. The last mutation was also present in an asymptomatic
obligate carrier with white matter abnormalities on brain magnetic resonance imaging.
Conclusions: This observation confirms COL4A1 as a major locus for genetic predisposition to perinatal
cerebral haemorrhage and porencephaly and suggests variable expression of COL4A1 mutations
Auditory perceptual styles of process and reactive schizophrenics as measured by The Sound Test
There is no abstract available for this research paper.Thesis (M.A.